DDB1

GENE INFORMATION

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Gene name

DDB1 (HGNC Symbol)

Synonyms

XPE

Description

Damage-specific DNA binding protein 1, 127kDa (HGNC Symbol)

Entrez gene summary

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]

Chromosome

11

Cytoband

q12.2

Chromosome location (bp)

61299451 - 61342596

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000167986 (version 78.38)

Entrez gene

1642

UniProt

Q16531 (UniProt - Evidence at protein level)

neXtProt

NX_Q16531

Antibodypedia

DDB1 antibodies
 

PROTEIN VIEW

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 « 
 
DDB1-001
 
DDB1-006
 
DDB1-007
 
DDB1-008
 
DDB1-009
 
DDB1-012
 
DDB1-013
 
DDB1-015
 
DDB1-017
 
DDB1-018
 
DDB1-019
 
DDB1-021
 
DDB1-024
 
DDB1-025
 
DDB1-026
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DDB1-001 ENSP00000301764
ENST00000301764
Q16531
Show all »
Show » Show » 1140 127 No 0
DDB1-006 ENSP00000440660
ENST00000543627
F5GYG8
Show all »
Show » 109 12.1 No 0
DDB1-007 ENSP00000441825
ENST00000535283
F5GWI0
Show all »
Show » 139 16 No 0
DDB1-008 ENSP00000444105
ENST00000542337
F5GZY8
Show all »
Show » 146 16.2 No 0
DDB1-009 ENSP00000445554
ENST00000539426
F5H2L3
Show all »
Show » 165 18.9 No 0
DDB1-012 ENSP00000445844
ENST00000543658
F5H198
Show all »
Show » Show » 162 17.9 No 0
DDB1-013 ENSP00000446044
ENST00000535174
F5H4N9
Show all »
Show » 254 27.9 No 0
DDB1-015 ENSP00000442660
ENST00000541513
F5H7A0
Show all »
Show » 182 20 Yes 0
DDB1-017 ENSP00000445563
ENST00000539739
F5H238
Show all »
Show » 303 33.2 Yes 0
DDB1-018 ENSP00000437713
ENST00000535967
F5H6C5
Show all »
Show » 272 29.9 No 0
DDB1-019 ENSP00000442732
ENST00000537877
F5H775
Show all »
Show » 240 26.6 No 0
DDB1-021 ENSP00000444650
ENST00000535147
F5H581
Show all »
Show » 267 29.2 No 0
DDB1-024 ENSP00000439787
ENST00000539332
F5H0Y5
Show all »
Show » Show » 204 23 No 0
DDB1-025 ENSP00000441522
ENST00000538470
F5GZ34
Show all »
Show » Show » 187 20.9 No 0
DDB1-026 ENSP00000399813
ENST00000451943
F8WF81
Show all »
Show » Show » 127 14.3 No 0