• Gene id: 1642

Gene Summary

• Gene Symbol: DDB1   Gene   UCSC   Ensembl
• Aliases: DDBA, UV-DDB1, XAP1, XPCE, XPE, XPE-BF
• Gene name: damage specific DNA binding protein 1
• Alternate names: DNA damage-binding protein 1, DDB p127 subunit, DNA damage-binding protein a, HBV X-associated protein 1, UV-DDB 1, UV-damaged DNA-binding factor, UV-damaged DNA-binding protein 1, XAP-1, XPE-binding factor, damage-specific DNA binding protein 1, 127kDa, xeroderma ,
• Gene location: 11q12.2 (61333104: 61299450)     Exons: 27     NC_000011.10
• Gene summary(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
• OMIM: 217030

Protein Summary

• Protein general information: Q16531  
  • 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
  • Length: 1140  
  • Mass: 126968
• Sequence:

  MSYNYVVTAQKPTAVNGCVTGHFTSAEDLNLLIAKNTRLEIYVVTAEGLRPVKEVGMYGKIAVMELFRPKGESKD
  LLFILTAKYNACILEYKQSGESIDIITRAHGNVQDRIGRPSETGIIGIIDPECRMIGLRLYDGLFKVIPLDRDNK
  ELKAFNIRLEELHVIDVKFLYGCQAPTICFVYQDPQGRHVKTYEVSLREKEFNKGPWKQENVEAEASMVIAVPEP
  FGGAIIIGQESITYHNGDKYLAIAPPIIKQSTIVCHNRVDPNGSRYLLGDMEGRLFMLLLEKEEQMDGTVTLKDL
  RVELLGETSIAECLTYLDNGVVFVGSRLGDSQLVKLNVDSNEQGSYVVAMETFTNLGPIVDMCVVDLERQGQGQL
  VTCSGAFKEGSLRIIRNGIGIHEHASIDLPGIKGLWPLRSDPNRETDDTLVLSFVGQTRVLMLNGEEVEETELMG
  FVDDQQTFFCGNVAHQQLIQITSASVRLVSQEPKALVSEWKEPQAKNISVASCNSSQVVVAVGRALYYLQIHPQE
  LRQISHTEMEHEVACLDITPLGDSNGLSPLCAIGLWTDISARILKLPSFELLHKEMLGGEIIPRSILMTTFESSH
  YLLCALGDGALFYFGLNIETGLLSDRKKVTLGTQPTVLRTFRSLSTTNVFACSDRPTVIYSSNHKLVFSNVNLKE
  VNYMCPLNSDGYPDSLALANNSTLTIGTIDEIQKLHIRTVPLYESPRKICYQEVSQCFGVLSSRIEVQDTSGGTT
  ALRPSASTQALSSSVSSSKLFSSSTAPHETSFGEEVEVHNLLIIDQHTFEVLHAHQFLQNEYALSLVSCKLGKDP
  NTYFIVGTAMVYPEEAEPKQGRIVVFQYSDGKLQTVAEKEVKGAVYSMVEFNGKLLASINSTVRLYEWTTEKELR
  TECNHYNNIMALYLKTKGDFILVGDLMRSVLLLAYKPMEGNFEEIARDFNPNWMSAVEILDDDNFLGAENAFNLF
  VCQKDSAATTDEERQHLQEVGLFHLGEFVNVFCHGSLVMQNLGETSTPTQGSVLFGTVNGMIGLVTSLSESWYNL
  LLDMQNRLNKVIKSVGKIEHSFWRSFHTERKTEPATGFIDGDLIESFLDISRPKMQEVVANLQYDDGSGMKREAT
  ADDLIKVVEELTRIH

• Structural information:
  • Interpro: IPR004871  IPR031297  IPR015943  IPR036322  
  • 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 6R91 6R92 6SJ7 6UD7 6UE5
  • PDBsum: 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 6R91 6R92 6SJ7 6UD7 6UE5
  • DIP: 430
  • STRING: ENSP00000301764
• Other Databases: GeneCards:  DDB1  Malacards:  DDB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031461	cullin-RING ubiquitin ligase complex	IBA	cellular component
GO:0006289	nucleotide-excision repair	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031465	Cul4B-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0045722	positive regulation of gluconeogenesis	ISS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003684	damaged DNA binding	TAS	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0006289	nucleotide-excision repair	TAS	biological process
GO:0031465	Cul4B-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0010498	proteasomal protein catabolic process	IMP	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0051702	interaction with symbiont	IDA	biological process
GO:1902188	positive regulation of viral release from host cell	IMP	biological process
GO:0046726	positive regulation by virus of viral protein levels in host cell	IMP	biological process
GO:0045070	positive regulation of viral genome replication	IMP	biological process
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0042769	DNA damage response, detection of DNA damage	TAS	biological process
GO:0043687	post-translational protein modification	TAS	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0000715	nucleotide-excision repair, DNA damage recognition	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0045722	positive regulation of gluconeogenesis	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0031465	Cul4B-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0070914	UV-damage excision repair	IDA	biological process
GO:0003684	damaged DNA binding	IDA	contributes to
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0035518	histone H2A monoubiquitination	IDA	biological process
GO:0031464	Cul4A-RING E3 ubiquitin ligase complex	IDA	cellular component
GO:1901990	regulation of mitotic cell cycle phase transition	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045732	positive regulation of protein catabolic process	IMP	biological process
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:0016567	protein ubiquitination	IMP	biological process
GO:0080008	Cul4-RING E3 ubiquitin ligase complex	IMP	cellular component
GO:0030674	protein-macromolecule adaptor activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032991	protein-containing complex	IMP	cellular component
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0071987	WD40-repeat domain binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097602	cullin family protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05170	Human immunodeficiency virus 1 infection
hsa05203	Viral carcinogenesis
hsa04120	Ubiquitin mediated proteolysis
hsa05161	Hepatitis B
hsa03420	Nucleotide excision repair

Diseases

Associated diseases	References
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Disorders of nucleotide excision repair	KEGG:H00403
Xeroderma pigmentosum	KEGG:H01428
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R