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    NXPE3 neurexophilin and PC-esterase domain family member 3 [ Homo sapiens (human) ]

    Gene ID: 91775, updated on 2-Nov-2024

    Summary

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    Official Symbol
    NXPE3provided by HGNC
    Official Full Name
    neurexophilin and PC-esterase domain family member 3provided by HGNC
    Primary source
    HGNC:HGNC:28238
    See related
    Ensembl:ENSG00000144815 AllianceGenome:HGNC:28238
    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
    FAM55C; MST115; MSTP115
    Summary
    This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
    Expression
    Ubiquitous expression in brain (RPKM 6.4), lymph node (RPKM 5.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NXPE3 in Genome Data Viewer
    Location:
    3q12.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (101779211..101828231)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (104492001..104541024)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (101498055..101547075)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:101444325-101444936 Neighboring gene PDCL3 pseudogene 4 Neighboring gene centrosomal protein 97 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20179 Neighboring gene Sharpr-MPRA regulatory region 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14578 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20184 Neighboring gene Sharpr-MPRA regulatory region 1067 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20185 Neighboring gene Sharpr-MPRA regulatory region 7874 Neighboring gene NFKB inhibitor zeta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20186 Neighboring gene MPRA-validated peak4754 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20187 Neighboring gene RIG-I dependent antiviral response regulator RNA Neighboring gene uncharacterized LOC101929411

    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 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. Genome-wide DNA methylation analysis in hepatocellular carcinoma. Yamada N, et al. Oncol Rep, 2016 Apr. PMID 26883180
    2. Neurexophilins form a conserved family of neuropeptide-like glycoproteins. Missler M, et al. J Neurosci, 1998 May 15. PMID 9570794, Free PMC Article
    3. Structure and evolution of neurexophilin. Petrenko AG, et al. J Neurosci, 1996 Jul 15. PMID 8699246, Free PMC Article
    4. Neurexophilin binding to alpha-neurexins. A single LNS domain functions as an independently folding ligand-binding unit. Missler M, et al. J Biol Chem, 1998 Dec 25. PMID 9856994
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • FLJ30102, MGC15606

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    NXPE family member 3
    Names
    family with sequence similarity 55, member C

    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_053180.2 RefSeqGene

      Range
      5027..54047
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134456.2 → NP_001127928.1  NXPE family member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001127928.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000417485.1, ENST00000491511.6
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    2. NM_001348990.2 → NP_001335919.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    3. NM_001348991.2 → NP_001335920.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000515931.1, ENST00000487830.2
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    4. NM_001348992.2 → NP_001335921.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000515920.1, ENST00000704532.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    5. NM_001348993.2 → NP_001335922.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000418381.2, ENST00000495842.6
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    6. NM_001348994.2 → NP_001335923.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000515927.1, ENST00000704539.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    7. NM_001348995.2 → NP_001335924.1  NXPE family member 3 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000515919.1, ENST00000704530.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    8. NM_001348996.2 → NP_001335925.1  NXPE family member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS93338.1
      UniProtKB/TrEMBL
      A0A994J553, A0A994J739
      Related
      ENSP00000515936.1, ENST00000704548.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    9. NM_001348997.2 → NP_001335926.1  NXPE family member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS93338.1
      UniProtKB/TrEMBL
      A0A994J553, A0A994J739
      Related
      ENSP00000515917.1, ENST00000704528.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    10. NM_001348998.2 → NP_001335927.1  NXPE family member 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 9-11 encode the same isoform (2).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS93338.1
      UniProtKB/TrEMBL
      A0A994J553, A0A994J739
      Related
      ENSP00000515937.1, ENST00000704549.1
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    11. NM_145037.4 → NP_659474.1  NXPE family member 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_659474.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-8 encode the same isoform (1).
      Source sequence(s)
      AC020651, AC084198
      Consensus CDS
      CCDS2945.1
      UniProtKB/Swiss-Prot
      A8K0X4, D3DN53, Q7Z2S8, Q969Y0
      UniProtKB/TrEMBL
      A0A994J553
      Related
      ENSP00000273347.5, ENST00000273347.10
      Conserved Domains (1) summary
      pfam06312
      Location:75 → 284
      Neurexophilin

    RNA

    1. NR_145993.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) uses an alternate 5' exon structure and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC020651, AC084198

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      101779211..101828231
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      104492001..104541024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969Y0.1 GenPept UniProtKB/Swiss-Prot:Q969Y0

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