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    NRG1 neuregulin 1 [ Homo sapiens (human) ]

    Gene ID: 3084, updated on 3-Nov-2024

    Summary

    Official Symbol
    NRG1provided by HGNC
    Official Full Name
    neuregulin 1provided by HGNC
    Primary source
    HGNC:HGNC:7997
    See related
    Ensembl:ENSG00000157168 MIM:142445; AllianceGenome:HGNC:7997
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GGF; HGL; HRG; NDF; ARIA; GGF2; HRG1; HRGA; SMDF; MST131; MSTP131; NRG1-IT2
    Summary
    The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
    Expression
    Broad expression in thyroid (RPKM 1.5), urinary bladder (RPKM 1.0) and 19 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NRG1 in Genome Data Viewer
    Location:
    8p12
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (31639245..32774046)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (31920455..33055399)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (31496761..32631564)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379360 Neighboring gene RNA, 5S ribosomal pseudogene 261 Neighboring gene Sharpr-MPRA regulatory region 7305 Neighboring gene NRG1 intronic transcript 1 Neighboring gene RNA, 5S ribosomal pseudogene 262 Neighboring gene RNA, 5S ribosomal pseudogene 263 Neighboring gene Sharpr-MPRA regulatory region 6165 Neighboring gene NANOG hESC enhancer GRCh37_chr8:32265698-32266280 Neighboring gene uncharacterized LOC105379361 Neighboring gene NRG1 intronic transcript 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:32490269-32491468 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:32500376-32501575 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:32504369-32504970 Neighboring gene uncharacterized LOC128092250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32579026-32579596 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32579597-32580167 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:32617179-32618378 Neighboring gene uncharacterized LOC105379362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27217 Neighboring gene RNA, U6 small nuclear 663, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:32858695-32859305 Neighboring gene MT-ND1 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Schizophrenia 6
    MedGen: C1864275 OMIM: 603013 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
    EBI GWAS Catalog
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
    EBI GWAS Catalog
    Discovery of common variants associated with low TSH levels and thyroid cancer risk.
    EBI GWAS Catalog
    Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network.
    EBI GWAS Catalog
    Genetics of coronary artery calcification among African Americans, a meta-analysis.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS Catalog
    Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
    EBI GWAS Catalog
    Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
    EBI GWAS Catalog
    Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
    EBI GWAS Catalog
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ErbB-3 class receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ErbB-3 class receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chemorepellent activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cytokine activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables growth factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables growth factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables integrin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables receptor tyrosine kinase binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coregulator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activator activity IC
    Inferred by Curator
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase activator activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERBB signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERBB signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ERBB2-ERBB3 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ERBB2-ERBB3 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERBB2-ERBB4 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERBB3 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERBB4 signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ERBB4 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERBB4-ERBB4 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in activation of protein kinase B activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in activation of transmembrane receptor protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cardiac muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cardiac muscle cell myoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell communication TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endocardial cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mammary gland development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cardiac muscle cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neural crest cell development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in peripheral nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of peptidyl-tyrosine autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of striated muscle cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sequestering of metal ion EXP
    Inferred from Experiment
    more info
    PubMed 
    involved_in ventricular cardiac muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ventricular trabecula myocardium morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pro-neuregulin-1, membrane-bound isoform
    Names
    NRG1 class VII isoform alpha 2a
    NRG1 class VII isoform alpha 2b
    NRG1 class VII isoform alpha beta 2a
    NRG1 class VII isoform alpha beta 3
    NRG1 class VII isoform beta 2a
    NRG1 class VII isoform beta 3
    acetylcholine receptor-inducing activity
    glial growth factor 2
    heregulin, alpha (45kD, ERBB2 p185-activator)
    neu differentiation factor
    pro-NRG1
    sensory and motor neuron derived factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012005.3 RefSeqGene

      Range
      914068..1139803
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159995.3NP_001153467.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1c), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1c, also known as type IV fetal C beta 1a or fetal b IV-beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, CA429204, DA805080, EF517297, GQ983557, M94166
      Consensus CDS
      CCDS94272.1
      UniProtKB/TrEMBL
      A0A494C1F8, E3SFM9
      Related
      ENSP00000499008.1, ENST00000652698.1
      Conserved Domains (4) summary
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      pfam00008
      Location:152182
      EGF; EGF-like domain
      pfam02158
      Location:202595
      Neuregulin; Neuregulin family
    2. NM_001159996.3NP_001153468.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43c

      See identical proteins and their annotated locations for NP_001153468.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43c), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon, and it also lacks two in-frame exons in the central coding region and includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43c, also known as ndf43) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK293240, BC144446, CA429204, DA805080, DC425692
      Consensus CDS
      CCDS75727.1
      UniProtKB/TrEMBL
      B7Z1D7, E5RHP6
      Related
      ENSP00000430862.2, ENST00000522402.6
      Conserved Domains (3) summary
      PHA03099
      Location:28120
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
      cd00054
      Location:3668
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam02158
      Location:113270
      Neuregulin; Neuregulin family
    3. NM_001159999.3NP_001153471.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1b), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1b, also known as type IV fetal B beta 1a) has a distinct N-terminus and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, CA429204, CN603652, DA805080, EF517296, GQ983557, M94165, U02328
      Consensus CDS
      CCDS94271.1
      UniProtKB/TrEMBL
      A0A494C1F5, E3SFM9
      Related
      ENSP00000499045.1, ENST00000650866.1
      Conserved Domains (4) summary
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      pfam00008
      Location:169199
      EGF; EGF-like domain
      pfam02158
      Location:219612
      Neuregulin; Neuregulin family
    4. NM_001160001.3NP_001153473.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1d), which uses the type IV promoter, contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks two in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-beta1d, also known as IV-beta 1a or type IV fetal A beta 1a) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, CA429204, CN603654, DA805080, EF372273, GQ983557, M94165
      Consensus CDS
      CCDS55218.1
      UniProtKB/TrEMBL
      E3SFM9
      Related
      ENSP00000429582.1, ENST00000519301.6
      Conserved Domains (4) summary
      cd05895
      Location:32106
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:22108
      IG_like; Immunoglobulin like
      pfam00008
      Location:135165
      EGF; EGF-like domain
      pfam02158
      Location:185578
      Neuregulin; Neuregulin family
    5. NM_001160002.2NP_001153474.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma2), which uses the type I promoter, lacks an internal in-frame exon and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma2, also known as gamma protein isoform 1) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, EU363508
      UniProtKB/TrEMBL
      B0FYA7
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    6. NM_001160004.3NP_001153476.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43b

      See identical proteins and their annotated locations for NP_001153476.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43b), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43b, also known as ndf43-beta2) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC113209, BC144446, CA429204, DA805080, EU363510
      Consensus CDS
      CCDS94273.1
      UniProtKB/TrEMBL
      A0A494C0K4, B0FYA9
      Related
      ENSP00000498583.1, ENST00000650980.1
      Conserved Domains (3) summary
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      pfam02158
      Location:232421
      Neuregulin; Neuregulin family
      cl28647
      Location:182271
      PHA02887; EGF-like protein; Provisional
    7. NM_001160005.2NP_001153477.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3b

      See identical proteins and their annotated locations for NP_001153477.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta3b), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta3b, also known as HRG-beta 3 protein isoform) lacks an internal segment, has a distinct C-terminus, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC083977, EU359055, M94168
      Consensus CDS
      CCDS94275.1
      UniProtKB/TrEMBL
      A0A494C114, B0FWZ3
      Related
      ENSP00000498833.1, ENST00000650967.1
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    8. NM_001160007.2NP_001153479.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma3), which uses the type I promoter, lacks two internal in-frame exons and multiple 3' exons, but contains an alternate 3' terminal exon that results in an early stop codon and an alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-gamma3, also known as gamma protein isoform 2) lacks an internal segment and is shorter at the C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, EU363509
      UniProtKB/TrEMBL
      B0FYA8
      Conserved Domains (2) summary
      cd00096
      Location:3743
      Ig; putative Ig strand A [structural motif]
      cl11960
      Location:37129
      Ig; Immunoglobulin domain
    9. NM_001160008.2NP_001153480.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta2b), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, and it also contains alternate 3' exon structure resulting an in early stop codon and alternate 3' UTR, compared to variant HRG-beta1. The resulting isoform (HRG-beta2b) lacks an internal segment and is shorter at the C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK097005, AK298132, BC006492, BQ018711
      Consensus CDS
      CCDS55219.1
      UniProtKB/TrEMBL
      B0FYA9
      Related
      ENSP00000430120.1, ENST00000523079.5
      Conserved Domains (3) summary
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      pfam02158
      Location:232420
      Neuregulin; Neuregulin family
      cl28647
      Location:182271
      PHA02887; EGF-like protein; Provisional
    10. NM_001322197.2NP_001309126.1  pro-neuregulin-1, membrane-bound isoform isoform VI-1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (VI-1), which uses the type VI promoter, lacks multiple 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also lacks an in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (VI-1) has a distinct N-terminus, lacks an internal segment, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK293270, CA429204, CN603661
      UniProtKB/TrEMBL
      B7Z1E3, E3SFM9
      Conserved Domains (2) summary
      PHA03099
      Location:28117
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
      pfam02158
      Location:78471
      Neuregulin; Neuregulin family
    11. NM_001322201.2NP_001309130.1  pro-neuregulin-1, membrane-bound isoform isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (fetal-a-IV-1), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks three internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant HRG-beta1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a.
      Source sequence(s)
      AC083977, AC103675, AC113209, CA429204, EF372275, GQ983557
      UniProtKB/TrEMBL
      A5YAK6, E3SFM9
      Conserved Domains (1) summary
      pfam02158
      Location:1370
      Neuregulin; Neuregulin family
    12. NM_001322202.2NP_001309131.1  pro-neuregulin-1, membrane-bound isoform isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (fetal-c-IV-2), which uses the type IV promoter, contains an alternate 5' terminal exon and lacks four internal exons, and it thus differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The resulting isoform (a) is shorter at the N-terminus, compared to isoform HRG-beta1. Both variants fetal-a-IV-1 and fetal-c-IV-2 encode isoform a.
      Source sequence(s)
      AC103675, AC113209, CA429204, EF372277, GQ983557
      UniProtKB/TrEMBL
      A5YAK8, E3SFM9
      Conserved Domains (1) summary
      pfam02158
      Location:1370
      Neuregulin; Neuregulin family
    13. NM_001322205.2NP_001309134.1  pro-neuregulin-1, membrane-bound isoform isoform NRG-III-beta1a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (NRG-III-beta1a), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and 5' coding region, compared to variant HRG-beta1. The resulting isoform (NRG-III-beta1a, also known as nARIAbeta1a or CRD-NRGbeta1a) has a distinct N-terminus and is longer than isoform HRG-beta1.
      Source sequence(s)
      AC103675, AC113209, AK289927, CA429204, EF517295
      Consensus CDS
      CCDS94277.1
      UniProtKB/TrEMBL
      A0A494C0Q4
      Related
      ENSP00000498646.1, ENST00000652592.1
      Conserved Domains (2) summary
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
      pfam02158
      Location:295688
      Neuregulin; Neuregulin family
    14. NM_001322206.2NP_001309135.1  pro-neuregulin-1, membrane-bound isoform isoform III-2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (III-2), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also includes an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (III-2) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK289927, BC144446, CA429204, M94166
      Consensus CDS
      CCDS94276.1
      UniProtKB/TrEMBL
      A0A494C0L9
      Related
      ENSP00000498590.1, ENST00000651333.2
      Conserved Domains (2) summary
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
      pfam02158
      Location:295484
      Neuregulin; Neuregulin family
    15. NM_001322207.2NP_001309136.1  pro-neuregulin-1, membrane-bound isoform isoform III-3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (III-3), which uses the type III promoter, lacks several 5' exons but contains an alternate 5' terminal exon and thus differs in the 5' UTR and 5' coding region, and it also contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (III-3) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK289927, AK298132, BC144446, BQ018711, M94166
      Consensus CDS
      CCDS94278.1
      UniProtKB/TrEMBL
      A0A494C1B5
      Related
      ENSP00000498946.1, ENST00000650819.1
      Conserved Domains (2) summary
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
      pfam02158
      Location:295483
      Neuregulin; Neuregulin family
    16. NM_004495.4NP_004486.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-gamma

      See identical proteins and their annotated locations for NP_004486.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-gamma), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-gamma) is shorter at the C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AC083977, AC103675, BC144446
      UniProtKB/TrEMBL
      B5BU95, Q7RTW5
      Related
      ENST00000651807.1
      Conserved Domains (2) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    17. NM_013956.5NP_039250.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta1

      See identical proteins and their annotated locations for NP_039250.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta1), which uses the type I promoter, encodes isoform HRG-beta1 (also known as NDF-beta1a or HRG-beta1a).
      Source sequence(s)
      AC113209, AK097005, AK298132, BC006492, BC144446, CA429204, DA805080, M94166
      Consensus CDS
      CCDS6083.1
      UniProtKB/TrEMBL
      Q7RTW4
      Related
      ENSP00000287842.4, ENST00000287842.7
      Conserved Domains (4) summary
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      pfam00008
      Location:190220
      EGF; EGF-like domain
      pfam02158
      Location:240633
      Neuregulin; Neuregulin family
    18. NM_013957.5NP_039251.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta2

      See identical proteins and their annotated locations for NP_039251.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta2), which uses the type I promoter, lacks an alternate in-frame exon in the central coding region, compared to variant HRG-beta1, resulting in an isoform (HRG-beta2) that is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK097005, AK290730, AK298132, BC006492, CA429204, DA805080, M94165
      Consensus CDS
      CCDS6084.1
      UniProtKB/TrEMBL
      Q7RTW3
      Related
      ENSP00000349275.6, ENST00000356819.7
      Conserved Domains (3) summary
      PHA03099
      Location:182271
      PHA03099; epidermal growth factor-like protein (EGF-like protein); Provisional
      smart00409
      Location:43129
      IG; Immunoglobulin
      cd00054
      Location:190222
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    19. NM_013958.4NP_039252.2  pro-neuregulin-1, membrane-bound isoform isoform HRG-beta3

      See identical proteins and their annotated locations for NP_039252.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-beta3), which uses the type I promoter, lacks multiple 3' exons but contains an alternate 3' terminal exon that results in an early stop codon, compared to variant HRG-beta1. The resulting isoform (HRG-beta3, also known as GGF or GGFHFB1) is shorter at the C-terminus, compared to isoform HRG-beta1.
      Source sequence(s)
      AK097005, AK298132, M94165, M94168
      Consensus CDS
      CCDS94274.1
      UniProtKB/TrEMBL
      A0A024QY88, Q6PK61
      Related
      ENSP00000498811.1, ENST00000650919.1
      Conserved Domains (3) summary
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      pfam00008
      Location:190220
      EGF; EGF-like domain
      cl11960
      Location:53127
      Ig; Immunoglobulin domain
    20. NM_013959.4NP_039253.1  pro-neuregulin-1, membrane-bound isoform isoform SMDF

      See identical proteins and their annotated locations for NP_039253.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (SMDF), which uses the type III promoter, is expressed mainly in the nervous system. It lacks multiple 5' and 3' exons but has alternate 5' and 3' terminal exons, and it thus differs in the 5' and 3' coding regions and in both UTRs, compared to variant HRG-beta1. The resulting isoform (SMDF, also known as NRG-III-beta3) has distinct N- and C-termini and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AK289927, M94168
      Consensus CDS
      CCDS6087.1
      UniProtKB/TrEMBL
      Q53F54, Q6ICV5, Q96IB3
      Related
      ENSP00000433289.1, ENST00000520502.7
      Conserved Domains (1) summary
      PHA02887
      Location:236279
      PHA02887; EGF-like protein; Provisional
    21. NM_013960.5NP_039254.1  pro-neuregulin-1, membrane-bound isoform isoform ndf43 proprotein

      See identical proteins and their annotated locations for NP_039254.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (ndf43), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, and it also contains an additional exon that results in an alternate 3' coding region, compared to variant HRG-beta1. The resulting isoform (ndf43) has an alternate internal segment and a distinct C-terminus, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK097005, AK298132, BC006492, CA429204, DA805080, M94165, U02326
      Consensus CDS
      CCDS6086.1
      UniProtKB/TrEMBL
      B0FYA9
      Related
      ENSP00000428828.1, ENST00000521670.5
      Conserved Domains (3) summary
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      pfam00008
      Location:190220
      EGF; EGF-like domain
      pfam02158
      Location:235424
      Neuregulin; Neuregulin family
    22. NM_013962.3NP_039256.2  pro-neuregulin-1, membrane-bound isoform isoform GGF2 precursor

      See identical proteins and their annotated locations for NP_039256.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (GGF2), which uses the type II promoter, is expressed in the nervous system and functions as a neuronal signal that promotes the proliferation and survival of the oligodendrocyte and the myelinating cell. This variant contains alternate 5' and 3' terminal exons and thus differs in the 5' and 3' coding regions and in both UTRs, and it also lacks two alternate in-frame exons in the central coding region, compared to variant HRG-beta1. The resulting isoform (GGF2, also known as GGFHBS5) has distinct N- and C-termini, lacks an internal segment, and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC104000, L12260, M94165, M94168
      Consensus CDS
      CCDS47836.1
      UniProtKB/Swiss-Prot
      Q02297
      Related
      ENSP00000434640.1, ENST00000520407.5
      Conserved Domains (2) summary
      cd05895
      Location:268342
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      cl28647
      Location:362405
      PHA02887; EGF-like protein; Provisional
    23. NM_013964.5NP_039258.1  pro-neuregulin-1, membrane-bound isoform isoform HRG-alpha proprotein

      See identical proteins and their annotated locations for NP_039258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (HRG-alpha), which uses the type I promoter, lacks two in-frame exons but contains a different in-frame exon in the central coding region, compared to variant HRG-beta1. The resulting isoform (HRG-alpha, also known as erbB2 or gp30/alpha 1) contains an alternate internal segment and is shorter than isoform HRG-beta1.
      Source sequence(s)
      AC113209, AK097005, AK298132, BC006492, CA429204, DA805080, M94165
      Consensus CDS
      CCDS6085.1
      UniProtKB/Swiss-Prot
      A5YAK4, A5YAK5, A8K1L2, B7Z4Z3, E9PHH4, O14667, P98202, Q02297, Q02298, Q02299, Q07110, Q07111, Q12779, Q12780, Q12781, Q12782, Q12783, Q12784, Q15491, Q7RTV9, Q7RTW0, Q7RTW1, Q7RTW2, Q8NFN1, Q8NFN2, Q8NFN3, Q9UPE3
      UniProtKB/TrEMBL
      Q7RTV8
      Related
      ENSP00000384620.2, ENST00000405005.8
      Conserved Domains (4) summary
      cd05895
      Location:53127
      Ig_Pro_neuregulin-1; Immunoglobulin (Ig)-like domain found in neuregulin (NRG)-1
      smart00410
      Location:43129
      IG_like; Immunoglobulin like
      pfam00008
      Location:190220
      EGF; EGF-like domain
      pfam02158
      Location:235628
      Neuregulin; Neuregulin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      31639245..32774046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544512.3XP_011542814.2  pro-neuregulin-1, membrane-bound isoform isoform X1

      Related
      ENSP00000429067.1, ENST00000523534.5
    2. XM_017013367.2XP_016868856.2  pro-neuregulin-1, membrane-bound isoform isoform X2

    3. XM_017013371.3XP_016868860.2  pro-neuregulin-1, membrane-bound isoform isoform X4

    4. XM_017013372.3XP_016868861.2  pro-neuregulin-1, membrane-bound isoform isoform X5

    5. XM_017013368.3XP_016868857.1  pro-neuregulin-1, membrane-bound isoform isoform X3

      UniProtKB/TrEMBL
      Q7RTW4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      31920455..33055399
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360388.1XP_054216363.1  pro-neuregulin-1, membrane-bound isoform isoform X1

    2. XM_054360389.1XP_054216364.1  pro-neuregulin-1, membrane-bound isoform isoform X2

    3. XM_054360391.1XP_054216366.1  pro-neuregulin-1, membrane-bound isoform isoform X4

    4. XM_054360392.1XP_054216367.1  pro-neuregulin-1, membrane-bound isoform isoform X5

    5. XM_054360390.1XP_054216365.1  pro-neuregulin-1, membrane-bound isoform isoform X3