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    NELL1 neural EGFL like 1 [ Homo sapiens (human) ]

    Gene ID: 4745, updated on 5-Mar-2024

    Summary

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    Official Symbol
    NELL1provided by HGNC
    Official Full Name
    neural EGFL like 1provided by HGNC
    Primary source
    HGNC:HGNC:7750
    See related
    Ensembl:ENSG00000165973 MIM:602319; AllianceGenome:HGNC:7750
    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
    NRP1; IDH3GL
    Summary
    This gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats. The encoded heterotrimeric protein may be involved in cell growth regulation and differentiation. A similar protein in rodents is involved in craniosynostosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Biased expression in brain (RPKM 7.1), kidney (RPKM 6.6) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p15.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (20669551..21575686)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (20790315..21696309)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (20691097..21597232)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20054 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20084 Neighboring gene Sharpr-MPRA regulatory region 9738 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20631780-20631977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:20643011-20643512 Neighboring gene high mobility group box 1 pseudogene 40 Neighboring gene solute carrier family 6 member 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:20787638-20787848 Neighboring gene uncharacterized LOC105376585 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:20902693-20903205 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:20987919-20988485 Neighboring gene RNA, 5S ribosomal pseudogene 336 Neighboring gene uncharacterized LOC124902809 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:21311115-21311614 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20242 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20249 Neighboring gene RNA, 5S ribosomal pseudogene 337 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20387 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20421 Neighboring gene uncharacterized LOC102723370 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20487 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20507 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20562 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:21831599-21832798 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:21882755-21883281 Neighboring gene uncharacterized LOC105376587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:22042648-22043247 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20715 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22086967-22087603 Neighboring gene uncharacterized LOC124902645

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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

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    Related articles in PubMed

    1. NELL-1 in Genome-Wide Association Studies across Human Diseases. Cheng X, et al. Am J Pathol, 2022 Mar. PMID 34890556, Free PMC Article
    2. NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9. Wang L, et al. J Periodontol, 2022 Jul. PMID 34647317
    3. NELL-1 Increased the Osteogenic Differentiation and mRNA Expression of Spheroids Composed of Stem Cells. Lee JH, et al. Medicina (Kaunas), 2021 Jun 8. PMID 34201046, Free PMC Article
    4. NELL1 is a target antigen in malignancy-associated membranous nephropathy. Caza TN, et al. Kidney Int, 2021 Apr. PMID 32828756, Free PMC Article
    5. Neural epidermal growth factor-like 1 protein (NELL-1) associated membranous nephropathy. Sethi S, et al. Kidney Int, 2020 Jan. PMID 31901340

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
      Title: [Clinical Significance of Thrombospondin Type 1 Domain-Containing 7A and Neural Epidermal Growth Factor-Like 1 Protein in M-Type Phospholipase A2 Receptor-Negative Membranous Nephropathy].
    2. Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.
      Title: Runx2 and Nell-1 in dental follicle progenitor cells regulate bone remodeling and tooth eruption.
    3. Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
      Title: Conformational Change of the Hairpin-like-structured Robo2 Ectodomain Allows NELL1/2 Binding.
    4. NELL1 Regulates the Matrisome to Promote Osteosarcoma Progression.
      Title: NELL1 Regulates the Matrisome to Promote Osteosarcoma Progression.
    5. NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9.
      Title: NELL1 augments osteogenesis and inhibits inflammation of human periodontal ligament stem cells induced by BMP9.
    6. NELL-1 in Genome-Wide Association Studies across Human Diseases.
      Title: NELL-1 in Genome-Wide Association Studies across Human Diseases.
    7. METTL3-Mediated lncRNA m(6)A Modification in the Osteogenic Differentiation of Human Adipose-Derived Stem Cells Induced by NEL-Like 1 Protein.
      Title: METTL3-Mediated lncRNA m(6)A Modification in the Osteogenic Differentiation of Human Adipose-Derived Stem Cells Induced by NEL-Like 1 Protein.
    8. Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
      Title: Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
    9. NELL1 is a target antigen in malignancy-associated membranous nephropathy.
      Title: NELL1 is a target antigen in malignancy-associated membranous nephropathy.
    10. Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
      Title: Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog
    Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Systematic association mapping identifies NELL1 as a novel IBD disease gene.
    EBI GWAS Catalog
    The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45906

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables heparin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of osteoblast proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ossification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein kinase C-binding protein NELL1
    Names
    nel-related protein 1
    neural epidermal growth factor-like 1

    NCBI Reference Sequences (RefSeq)

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    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_047064.1 RefSeqGene

      Range
      5036..911136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288713.1 → NP_001275642.1  protein kinase C-binding protein NELL1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001275642.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (3) is longer, compared to isoform 1.
      Source sequence(s)
      AC090707, AK127805, AK313445, BC069674, BX112939, DB327365, JX565026
      Consensus CDS
      CCDS73267.1
      UniProtKB/TrEMBL
      B3KXR2, J3KNC5
      Related
      ENSP00000298925.5, ENST00000298925.9
      Conserved Domains (6) summary
      smart00179
      Location:577 → 614
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:57 → 241
      TSPN; Thrombospondin N-terminal -like domains
      pfam00093
      Location:301 → 359
      VWC; von Willebrand factor type C domain
      pfam07645
      Location:624 → 655
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:508 → 543
      EGF_3; EGF domain
      cl17735
      Location:729 → 777
      VWC; von Willebrand factor type C domain

    2. NM_001288714.1 → NP_001275643.1  protein kinase C-binding protein NELL1 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AC090707, AK313445, BC069674, BX112939, DB327365, JX565026
      Consensus CDS
      CCDS73268.1
      UniProtKB/TrEMBL
      B4E197, F5H6I3
      Related
      ENSP00000317837.5, ENST00000325319.9
      Conserved Domains (6) summary
      smart00179
      Location:492 → 529
      EGF_CA; Calcium-binding EGF-like domain
      pfam00093
      Location:216 → 274
      VWC; von Willebrand factor type C domain
      pfam12947
      Location:423 → 458
      EGF_3; EGF domain
      cl17735
      Location:644 → 692
      VWC; von Willebrand factor type C domain
      cl21504
      Location:539 → 570
      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 ...
      cl22861
      Location:29 → 156
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    3. NM_006157.5 → NP_006148.2  protein kinase C-binding protein NELL1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006148.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AK313445, BC069674, BX112939, DB327365, JX565026
      Consensus CDS
      CCDS7855.1
      UniProtKB/Swiss-Prot
      B2CKC1, Q4VB90, Q4VB91, Q6NSY8, Q92832, Q9Y472
      UniProtKB/TrEMBL
      B3KXR2
      Related
      ENSP00000349654.5, ENST00000357134.10
      Conserved Domains (6) summary
      smart00179
      Location:549 → 586
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:29 → 213
      TSPN; Thrombospondin N-terminal -like domains
      pfam00093
      Location:273 → 331
      VWC; von Willebrand factor type C domain
      pfam07645
      Location:596 → 627
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:480 → 515
      EGF_3; EGF domain
      cl17735
      Location:701 → 749
      VWC; von Willebrand factor type C domain

    4. NM_201551.2 → NP_963845.1  protein kinase C-binding protein NELL1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_963845.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090707, AK313445, BC069674, BX112939, DB327365, JX565026
      Consensus CDS
      CCDS44555.1
      UniProtKB/TrEMBL
      Q4VB88
      Related
      ENSP00000437170.1, ENST00000532434.5
      Conserved Domains (6) summary
      smart00179
      Location:434 → 466
      EGF_CA; Calcium-binding EGF-like domain
      smart00210
      Location:29 → 213
      TSPN; Thrombospondin N-terminal -like domains
      pfam00093
      Location:273 → 331
      VWC; von Willebrand factor type C domain
      pfam07645
      Location:549 → 580
      EGF_CA; Calcium-binding EGF domain
      pfam12947
      Location:480 → 515
      EGF_3; EGF domain
      cl17735
      Location:654 → 702
      VWC; von Willebrand factor type C domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      20669551..21575686
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      20790315..21696309
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92832.4 GenPept UniProtKB/Swiss-Prot:Q92832

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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