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    UNC5C unc-5 netrin receptor C [ Homo sapiens (human) ]

    Gene ID: 8633, updated on 10-Dec-2024

    Summary

    Official Symbol
    UNC5Cprovided by HGNC
    Official Full Name
    unc-5 netrin receptor Cprovided by HGNC
    Primary source
    HGNC:HGNC:12569
    See related
    Ensembl:ENSG00000182168 MIM:603610; AllianceGenome:HGNC:12569
    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
    UNC5H3
    Summary
    This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in thyroid (RPKM 2.7), adrenal (RPKM 2.7) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UNC5C in Genome Data Viewer
    Location:
    4q22.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (95162504..95548973, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (98477165..98864110, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (96083655..96470124, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene BMPR1B divergent transcript Neighboring gene bone morphogenetic protein receptor type 1B Neighboring gene NANOG hESC enhancer GRCh37_chr4:95837674-95838175 Neighboring gene uncharacterized LOC124900735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:96140095-96141294 Neighboring gene Sharpr-MPRA regulatory region 12130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96321208-96321708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:96321709-96322209 Neighboring gene uncharacterized LOC124900736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21730 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:96506064-96507263 Neighboring gene UNC5C antisense RNA 1 Neighboring gene ribosomal protein L30 pseudogene 6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    EBI GWAS Catalog
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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 netrin receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables netrin receptor activity involved in chemorepulsion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterior/posterior axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemorepulsion of axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in dorsal root ganglion development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in netrin-activated signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of developmental process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of reproductive process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    located_in filopodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lamellipodium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    netrin receptor UNC5C
    Names
    protein unc-5 homolog 3
    protein unc-5 homolog C
    unc-5 homolog 3
    unc-5 homolog C
    unc5 (C.elegans homolog) c

    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.

    mRNA and Protein(s)

    1. NM_003728.4NP_003719.3  netrin receptor UNC5C precursor

      See identical proteins and their annotated locations for NP_003719.3

      Status: REVIEWED

      Source sequence(s)
      AC098584, AC105395, AC106881
      Consensus CDS
      CCDS3643.1
      UniProtKB/Swiss-Prot
      O95185, Q8IUT0
      UniProtKB/TrEMBL
      A8K385
      Related
      ENSP00000406022.1, ENST00000453304.6
      Conserved Domains (5) summary
      smart00218
      Location:528631
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00209
      Location:263314
      TSP1; Thrombospondin type 1 repeats
      cd08799
      Location:844926
      Death_UNC5C; Death domain found in Uncoordinated-5C
      pfam17217
      Location:678817
      UPA; UPA domain
      cl11960
      Location:171257
      Ig; Immunoglobulin domain

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      95162504..95548973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263321.4XP_005263378.1  netrin receptor UNC5C isoform X1

      See identical proteins and their annotated locations for XP_005263378.1

      UniProtKB/TrEMBL
      A8K385
      Conserved Domains (5) summary
      smart00218
      Location:547650
      ZU5; Domain present in ZO-1 and Unc5-like netrin receptors
      smart00209
      Location:263314
      TSP1; Thrombospondin type 1 repeats
      pfam07679
      Location:169257
      I-set; Immunoglobulin I-set domain
      cd08799
      Location:863945
      Death_UNC5C; Death domain found in Uncoordinated-5C
      cl11960
      Location:171257
      Ig; Immunoglobulin domain
    2. XM_047416346.1XP_047272302.1  netrin receptor UNC5C isoform X2

    3. XM_047416345.1XP_047272301.1  netrin receptor UNC5C isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      98477165..98864110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351147.1XP_054207122.1  netrin receptor UNC5C isoform X1

      UniProtKB/TrEMBL
      A8K385
    2. XM_054351149.1XP_054207124.1  netrin receptor UNC5C isoform X2

    3. XM_054351148.1XP_054207123.1  netrin receptor UNC5C isoform X2