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

Gene ID: 1630, updated on 4-Oct-2020

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
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

Genomic context

See DCC in Genome Data Viewer
Location:
18q21.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (52340172..53535899)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (49866542..51062273)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1384 Neighboring gene uncharacterized LOC105372121 Neighboring gene vomeronasal 1 receptor 76 pseudogene Neighboring gene microRNA 4528 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
A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.
GeneReviews: Not available
A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.
GeneReviews: Not available
Colorectal cancer
MedGen: C1527249 OMIM: 114500 GeneReviews: Lynch Syndrome
Compare labs
Gaze palsy, familial horizontal, with progressive scoliosis, 2
MedGen: C4479640 OMIM: 617542 GeneReviews: Not available
Compare labs
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
GeneReviews: Not available
Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
GeneReviews: Not available
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
GeneReviews: Not available
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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
netrin receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anterior/posterior axon guidance IEA
Inferred from Electronic Annotation
more info
 
apoptotic process TAS
Traceable Author Statement
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
axonogenesis TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral axon guidance IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand TAS
Traceable Author Statement
more info
 
negative regulation of collateral sprouting TAS
Traceable Author Statement
more info
PubMed 
negative regulation of dendrite development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of netrin-activated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of neuron projection development TAS
Traceable Author Statement
more info
PubMed 
netrin-activated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
neuron migration IEA
Inferred from Electronic Annotation
more info
 
postsynaptic modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
spinal cord ventral commissure morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
integral component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
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)

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)

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
    UniProtKB/TrEMBL
    Q49AK4
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    52340172..53535899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017025569.1XP_016881058.1  netrin receptor DCC isoform X3

  3. XM_011525843.1XP_011524145.1  netrin receptor DCC isoform X2

    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:11481419
    Neogenin_C; Neogenin C-terminus
    cl11960
    Location:347417
    Ig; Immunoglobulin domain
  4. XM_011525844.2XP_011524146.1  netrin receptor DCC isoform X4

    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
  5. XM_017025570.1XP_016881059.1  netrin receptor DCC isoform X4

    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
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