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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
p15
Chromosome location (bp)
61888724 - 62147247
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Proposed scaffold protein that is implicated in diverse physiological processes and whose function may be in part linked to its ability to regulate ubiquitination of specific cellular proteins. Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 1. Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity 2,3,4. Involved in the regulation of membrane expression and ubiquitination of SLC12A2 5. Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes 6,7,8. Promotes CFTR cell surface expression through regulation of its ubiquitination 9. Down-regulates SOD1 activity by interfering with its homodimerization 10. Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes 11. Can bind one copper ion per monomer 12. May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) 13. Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 14. Negatively regulates neuroblastoma G1/S phase cell cycle progression and cell proliferation by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a FAM107A- and actin-dependent manner 15....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Protein transport, Transcription, Transcription regulation, Transport, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q8N668 [Direct mapping] COMM domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005507[copper ion binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005547[phosphatidylinositol-3,4,5-trisphosphate binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005829[cytosol] GO:0006289[nucleotide-excision repair] GO:0006893[Golgi to plasma membrane transport] GO:0008289[lipid binding] GO:0010008[endosome membrane] GO:0015031[protein transport] GO:0016020[membrane] GO:0019871[sodium channel inhibitor activity] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031462[Cul2-RING ubiquitin ligase complex] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032434[regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043325[phosphatidylinositol-3,4-bisphosphate binding] GO:0046872[metal ion binding] GO:0048227[plasma membrane to endosome transport] GO:0055037[recycling endosome] GO:0055070[copper ion homeostasis] GO:0070300[phosphatidic acid binding] GO:0080025[phosphatidylinositol-3,5-bisphosphate binding] GO:1902306[negative regulation of sodium ion transmembrane transport] GO:2000009[negative regulation of protein localization to cell surface]
The Human Protein Atlas project is funded
