Description: Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. RefSeq Summary (NM_005215): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr18:49,866,542-51,062,273 Size: 1,195,732 Total Exon Count: 29 Strand: + Coding Region Position: hg19 chr18:49,867,158-51,057,023 Size: 1,189,866 Coding Exon Count: 29
ID:DCC_HUMAN DESCRIPTION: RecName: Full=Netrin receptor DCC; AltName: Full=Colorectal cancer suppressor; AltName: Full=Immunoglobulin superfamily DCC subclass member 1; AltName: Full=Tumor suppressor protein DCC; Flags: Precursor; FUNCTION: Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene. SUBUNIT: Interacts with the cytoplasmic part of UNC5A, UNC5B, UNC5C and probably UNC5D. Interacts with DSCAM. Interacts with PTK2/FAK1 and MAPK1. Interacts with NTN1 (By similarity). Interacts with MYO10. INTERACTION: P56270:MAZ; NbExp=4; IntAct=EBI-1222919, EBI-1809742; P46779:RPL28; NbExp=3; IntAct=EBI-1222919, EBI-366357; P46777:RPL5; NbExp=7; IntAct=EBI-1222919, EBI-358018; P62266:RPS23; NbExp=2; IntAct=EBI-1222919, EBI-353072; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Found in axons of the central and peripheral nervous system and in differentiated cell types of the intestine. Not expressed in colorectal tumor cells that lost their capacity to differentiate into mucus producing cells. PTM: Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation (Probable). DISEASE: Defects in DCC are the cause of mirror movements type 1 (MRMV1) [MIM:157600]. A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MISCELLANEOUS: Inactivation of DCC due to allelic deletion and/or point mutations is related to lymphatic and hematogenous metastatic tumor dissemination. SIMILARITY: Belongs to the immunoglobulin superfamily. DCC family. SIMILARITY: Contains 6 fibronectin type-III domains. SIMILARITY: Contains 4 Ig-like C2-type (immunoglobulin-like) domains. SEQUENCE CAUTION: Sequence=AAA52175.1; Type=Erroneous gene model prediction; Sequence=AAA52177.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA52179.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA52180.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Alcoholism Andrew C Heath et al. Biological psychiatry 2011, A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications., Biological psychiatry.
[PubMed 21529783]
We conclude that 1) meta-analyses of consumption data may contribute usefully to gene discovery; 2) translation of human alcoholism GWAS results to drug discovery or clinically useful prediction of risk will be challenging; and 3) through accumulation across studies, GWAS data may become valuable for improved genetic risk differentiation in research in biological psychiatry (e.g., prospective high-risk or resilience studies).
Body Weight Changes Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
[PubMed 17903300]
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P43146
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
