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    DCC DCC netrin 1 receptor [ Homo sapiens (human) ]

    Gene ID: 1630, updated on 17-Jun-2024

    Summary

    Official Symbol
    DCCprovided by HGNC
    Official Full Name
    DCC netrin 1 receptorprovided by HGNC
    Primary source
    HGNC:HGNC:2701
    See related
    Ensembl:ENSG00000187323 MIM:120470; AllianceGenome:HGNC:2701
    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
    CRC18; CRCR1; MRMV1; HGPPS2; IGDCC1; NTN1R1
    Summary
    This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in testis (RPKM 2.4), brain (RPKM 1.4) and 2 other tissues See more
    Orthologs
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    Genomic context

    See DCC in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (52340197..53535899)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (52543078..53739020)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (49866567..51062269)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr18:49472122-49472636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13336 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13337 Neighboring gene NANOG hESC enhancer GRCh37_chr18:49514627-49515128 Neighboring gene ribosomal protein S8 pseudogene 3 Neighboring gene VISTA enhancer hs1384 Neighboring gene uncharacterized LOC105372121 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49595452-49596115 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49754501-49755047 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:49850127-49850638 Neighboring gene vomeronasal 1 receptor 76 pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:50162292-50163491 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47967 Neighboring gene NANOG hESC enhancer GRCh37_chr18:50208549-50209050 Neighboring gene NANOG hESC enhancer GRCh37_chr18:50334126-50334627 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:50582336-50582939 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:50780507-50781098 Neighboring gene microRNA 4528 Neighboring gene uncharacterized LOC124904305 Neighboring gene uncharacterized LOC124904304 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:51037281-51038480 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:51093005-51093861 Neighboring gene long intergenic non-protein coding RNA 1919 Neighboring gene long intergenic non-protein coding RNA 1917 Neighboring gene ribosomal protein L29 pseudogene 32

    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

    Associated conditions

    Description Tests
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    Compare labs
    Gaze palsy, familial horizontal, with progressive scoliosis, 2
    MedGen: C4479640 OMIM: 617542 GeneReviews: Not available
    Compare labs
    Malignant tumor of esophagus
    MedGen: C0546837 OMIM: 133239 GeneReviews: Not available
    Compare labs
    Mirror movements 1
    MedGen: C1834870 OMIM: 157600 GeneReviews: Congenital Mirror Movements
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.
    EBI GWAS Catalog
    A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
    EBI GWAS Catalog
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    EBI GWAS Catalog
    Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane signaling receptor activity TAS
    Traceable Author Statement
    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 axonogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dorsal/ventral axon guidance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of collateral sprouting TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of dendrite development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of neuron projection development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spinal cord ventral commissure morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axonal growth cone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    netrin receptor DCC
    Names
    colorectal cancer suppressor
    deleted in colorectal carcinoma
    immunoglobulin superfamily DCC subclass member 1
    putative colorectal tumor suppressor
    tumor suppressor protein DCC

    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_013341.2 RefSeqGene

      Range
      5026..1200728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1107

    mRNA and Protein(s)

    1. NM_005215.4NP_005206.2  netrin receptor DCC

      See identical proteins and their annotated locations for NP_005206.2

      Status: REVIEWED

      Source sequence(s)
      AC011155, AC103949, BC036524, X76132
      Consensus CDS
      CCDS11952.1
      UniProtKB/Swiss-Prot
      P43146
      Related
      ENSP00000389140.2, ENST00000442544.7
      Conserved Domains (8) summary
      cd05722
      Location:41136
      Ig1_Neogenin; First immunoglobulin (Ig)-like domain in neogenin and similar proteins
      smart00408
      Location:153219
      IGc2; Immunoglobulin C-2 Type
      smart00060
      Location:726805
      FN3; Fibronectin type 3 domain
      smart00410
      Location:147224
      IG_like; Immunoglobulin like
      cd00063
      Location:528617
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:331417
      I-set; Immunoglobulin I-set domain
      pfam06583
      Location:11481445
      Neogenin_C; Neogenin C-terminus
      cl11960
      Location:347417
      Ig; Immunoglobulin 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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      52340197..53535899
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025568.2XP_016881057.1  netrin receptor DCC isoform X1

    2. XM_017025569.2XP_016881058.1  netrin receptor DCC isoform X2

    3. XM_047437311.1XP_047293267.1  netrin receptor DCC isoform X3

    4. XM_011525844.3XP_011524146.1  netrin receptor DCC isoform X4

      UniProtKB/TrEMBL
      J3QS93
      Related
      ENSP00000464582.1, ENST00000581580.5
      Conserved Domains (5) summary
      smart00060
      Location:381460
      FN3; Fibronectin type 3 domain
      cd00063
      Location:183272
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:272
      I-set; Immunoglobulin I-set domain
      pfam06583
      Location:8031100
      Neogenin_C; Neogenin C-terminus
      cl11960
      Location:272
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      52543078..53739020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318227.1XP_054174202.1  netrin receptor DCC isoform X1

    2. XM_054318228.1XP_054174203.1  netrin receptor DCC isoform X2

    3. XM_054318229.1XP_054174204.1  netrin receptor DCC isoform X3

    4. XM_054318230.1XP_054174205.1  netrin receptor DCC isoform X4

      UniProtKB/TrEMBL
      J3QS93