Gene Gene information from NCBI Gene database.
Entrez ID 1642
Gene name Damage specific DNA binding protein 1
Gene symbol DDB1
Synonyms (NCBI Gene)
DDBAUV-DDB1WHIKERSXAP1XPCEXPEXPE-BF
Chromosome 11
Chromosome location 11q12.2
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
miRNA miRNA information provided by mirtarbase database.
542
miRTarBase ID miRNA Experiments Reference
MIRT016411 hsa-miR-193b-3p Proteomics 21512034
MIRT050184 hsa-miR-26a-5p CLASH 23622248
MIRT047942 hsa-miR-30c-5p CLASH 23622248
MIRT045485 hsa-miR-149-5p CLASH 23622248
MIRT045270 hsa-miR-186-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
MYCN Unknown 12527763
NF1 Unknown 12527763
SP1 Unknown 12527763
TP53 Activation 16357511
TP53 Repression 19382146
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82
GO ID Ontology Definition Evidence Reference
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0003676 Function Nucleic acid binding IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 8798680
GO:0003684 Function Damaged DNA binding IDA 22334663
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600045 2717 ENSG00000167986
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16531
Protein name DNA damage-binding protein 1 (DDB p127 subunit) (DNA damage-binding protein a) (DDBa) (Damage-specific DNA-binding protein 1) (HBV X-associated protein 1) (XAP-1) (UV-damaged DNA-binding factor) (UV-damaged DNA-binding protein 1) (UV-DDB 1) (XPE-binding f
Protein function 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 (PubMed:14739464, PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16407252, PubMe
PDB 2B5L , 2B5M , 2B5N , 2HYE , 3E0C , 3EI1 , 3EI2 , 3EI3 , 3EI4 , 3I7H , 3I7K , 3I7L , 3I7N , 3I7O , 3I7P , 3I89 , 3I8C , 3I8E , 4A08 , 4A09 , 4A0A , 4A0B , 4A0K , 4A0L , 4A11 , 4CI1 , 4CI2 , 4CI3 , 4E54 , 4E5Z , 4TZ4 , 5FQD , 5HXB , 5JK7 , 5V3O , 6BN7 , 6BN8 , 6BN9 , 6BNB , 6BOY , 6DSZ , 6FCV , 6H0F , 6H0G , 6PAI , 6Q0R , 6Q0V , 6Q0W , 6R8Y , 6R8Z , 6R90
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10433 MMS1_N 75 543 Domain
PF03178 CPSF_A 788 1099 CPSF A subunit region Family
Sequence
MSYNYVVTAQKPTAVNGCVTGHFTSAEDLNLLIAKNTRLEIYVVTAEGLRPVKEVGMYGK
IAVMELFRPKGESKDLLFILTAKYNACILEYKQSGESIDIITRAHGNVQDRIGRPSETGI
IGIIDPECRMIGLRLYDGLFKVIPLDRDNKELKAFNIRLEELHVIDVKFLYGCQAPTICF
VYQDPQGRHVKTYEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIGQESITYH
NGDKYLAIAPPIIKQSTIVCHNRVDPNGSRYLLGDMEGRLFMLLLEKEEQMDGTVTLKDL
RVELLGETSIAECLTYLDNGVVFVGSRLGDSQLVKLNVDSNEQGSYVVAMETFTNLGPIV
DMCVVDLERQGQGQLVTCSGAFKEGSLRIIRNGIGIHEHASIDLPGIKGLWPLRSDPNRE
TDDTLVLSFVGQTRVLMLNGEEVEETELMGFVDDQQTFFCGNVAHQQLIQITSASVRLVS
QEPKALVSEWKEPQAKNISVASCNSSQVVVAVGRALYYLQIHPQELRQISHTEMEHEVAC
LDI
TPLGDSNGLSPLCAIGLWTDISARILKLPSFELLHKEMLGGEIIPRSILMTTFESSH
YLLCALGDGALFYFGLNIETGLLSDRKKVTLGTQPTVLRTFRSLSTTNVFACSDRPTVIY
SSNHKLVFSNVNLKEVNYMCPLNSDGYPDSLALANNSTLTIGTIDEIQKLHIRTVPLYES
PRKICYQEVSQCFGVLSSRIEVQDTSGGTTALRPSASTQALSSSVSSSKLFSSSTAPHET
SFGEEVEVHNLLIIDQHTFEVLHAHQFLQNEYALSLVSCKLGKDPNTYFIVGTAMVYPEE
AEPKQGRIVVFQYSDGKLQTVAEKEVKGAVYSMVEFNGKLLASINSTVRLYEWTTEKELR
TECNHYNNIMALYLKTKGDFILVGDLMRSVLLLAYKPMEGNFEEIARDFNPNWMSAVEIL
DDDNFLGAENAFNLFVCQKDSAATTDEERQHLQEVGLFHLGEFVNVFCHGSLVMQNLGET
STPTQGSVLFGTVNGMIGLVTSLSESWYNLLLDMQNRLNKVIKSVGKIEHSFWRSFHTER
KTEPATGFIDGDLIESFLD
ISRPKMQEVVANLQYDDGSGMKREATADDLIKVVEELTRIH
Sequence length 1140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nucleotide excision repair
Ubiquitin mediated proteolysis
Hepatitis B
Human immunodeficiency virus 1 infection
Viral carcinogenesis
  Recognition of DNA damage by PCNA-containing replication complex
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Formation of TC-NER Pre-Incision Complex
Transcription-Coupled Nucleotide Excision Repair (TC-NER)
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Neddylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
19
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Likely pathogenic rs1231861984 RCV002274331
White-Kernohan syndrome Pathogenic; Likely pathogenic rs2134935097, rs2134934938, rs2134916397 RCV001541892
RCV001541893
RCV001541894
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DDB1-related disorder Uncertain significance; Likely benign rs2539658977, rs1358257831, rs2539668514, rs368309331, rs35597036, rs371466859 RCV003397495
RCV003405864
RCV003391459
RCV003921700
RCV003963858
RCV003962241
Heart, malformation of Uncertain significance rs769032698 RCV001007947
Syndromic intellectual disability Uncertain significance rs757118401 RCV002273333
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28336923
Adrenocortical Carcinoma Associate 20231622
Brachydactyly Associate 33743206
Carcinoma Non Small Cell Lung Associate 24082123
Carcinoma Ovarian Epithelial Associate 36934683
Carcinoma Renal Cell Associate 36934683
Colorectal Neoplasms Associate 34720086
Coronary Restenosis Associate 35968900
Death Associate 23407396
DNA Repair Deficiency Disorders Associate 33743206