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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.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
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
11
Cytoband
q12.2
Chromosome location (bp)
61299451 - 61342596
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively 1,2,3,4,5,6,7,8. Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair 9,10,11,12. The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches 13,14,15,16. Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins 17,18,19,20,21,22,23,24,25,26,27. The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 28,29,30,31,32,33,34,35,36,37. DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage 38,39,40,41. The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair 42,43,44,45. DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER 46. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication 47. DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) 48. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 49. DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity). By acting on TET dioxygenses, essential for oocyte maintenance at the primordial follicle stage, hence essential for female fertility (By similarity). Maternal factor required for proper zygotic genome activation and genome reprogramming (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Biological rhythms, DNA damage, DNA repair, Host-virus interaction, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]...show less
PROTEIN INFORMATIONi
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.
Q16531 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations 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:0000781[chromosome, telomeric region] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006915[apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0010498[proteasomal protein catabolic process] GO:0016055[Wnt signaling pathway] GO:0016567[protein ubiquitination] GO:0019076[viral release from host cell] GO:0030674[protein-macromolecule adaptor activity] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0035234[ectopic germ cell programmed cell death] GO:0035518[histone H2A monoubiquitination] GO:0035861[site of double-strand break] GO:0042752[regulation of circadian rhythm] GO:0043066[negative regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044877[protein-containing complex binding] GO:0045070[positive regulation of viral genome replication] GO:0045722[positive regulation of gluconeogenesis] GO:0045732[positive regulation of protein catabolic process] GO:0046726[positive regulation by virus of viral protein levels in host cell] GO:0048511[rhythmic process] GO:0051093[negative regulation of developmental process] GO:0051702[biological process involved in interaction with symbiont] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0071987[WD40-repeat domain binding] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0097602[cullin family protein binding] GO:1901990[regulation of mitotic cell cycle phase transition] GO:2000242[negative regulation of reproductive process]
F5H2L3 [Direct mapping] DNA damage-binding protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
F5GZY8 [Direct mapping] DNA damage-binding protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
F5H198 [Direct mapping] DNA damage-binding protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A7P0TAK7 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A7P0Z3Z5 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A7P0T870 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Q16531 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000781[chromosome, telomeric region] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0019076[viral release from host cell] GO:0030674[protein-macromolecule adaptor activity] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0035861[site of double-strand break] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044877[protein-containing complex binding] GO:0045070[positive regulation of viral genome replication] GO:0045722[positive regulation of gluconeogenesis] GO:0045732[positive regulation of protein catabolic process] GO:0046726[positive regulation by virus of viral protein levels in host cell] GO:0048511[rhythmic process] GO:0051702[biological process involved in interaction with symbiont] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0071987[WD40-repeat domain binding] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0097602[cullin family protein binding] GO:1901990[regulation of mitotic cell cycle phase transition]
A0A7P0T965 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
A0A7P0TB30 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Q16531 [Direct mapping] DNA damage-binding protein 1
Show all
MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000781[chromosome, telomeric region] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0019076[viral release from host cell] GO:0030674[protein-macromolecule adaptor activity] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0032991[protein-containing complex] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0035861[site of double-strand break] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0044877[protein-containing complex binding] GO:0045070[positive regulation of viral genome replication] GO:0045722[positive regulation of gluconeogenesis] GO:0045732[positive regulation of protein catabolic process] GO:0046726[positive regulation by virus of viral protein levels in host cell] GO:0048511[rhythmic process] GO:0051702[biological process involved in interaction with symbiont] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0071987[WD40-repeat domain binding] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:0097602[cullin family protein binding] GO:1901990[regulation of mitotic cell cycle phase transition]
A0A7P0Z4B9 [Direct mapping] DNA damage-binding protein 1
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MEMSAT3 predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
