DDB1 - damage specific DNA binding protein 1 Gene

Also Known as XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1; WHIKERS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1642

About DDB1

Cytogenetic location: 11q12.2 Genomic coordinates (GRCh38): 11:61,299,451-61,333,105 (from NCBI)

This gene has 45 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 89.2), placenta (RPKM 76.1) and 25 other tissues.

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]

DDB1 Products (1)

mRNA	Protein	Name
NM_001923.5	NP_001914.3	DNA damage-binding protein 1

DDB1 Protein Structure

MMS1_N

CPSF_A

0
200
400
600
800
1000
1140 a.a.

Protein Preferred Names	Protein Names
DNA damage-binding protein 1	DDB p127 subunit

DDB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DDB1	Q16531	TLE2	Homo sapiens	Q04725	Anti Bait CoIP	17041588
Intra	DDB1	Q16531	DTL	Homo sapiens	Q9NZJ0	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Anti Tag CoIP	17360488
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Anti Tag CoIP	22822215
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Anti Tag CoIP	9418871
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	AFM	22822215
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Anti Bait CoIP	16473935
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Pull Down	22822215
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	DLS	22822215
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	TEM	22822215
Intra	DDB1	Q16531	DDB2	Homo sapiens	Q92466	X-Ray Diffraction	22822215
Cross	DDB1	Q16531	X	Woodchuck hepatitis virus	Q89246	X-Ray Diffraction	19966799
Cross	DDB1	Q16531	X	Woodchuck hepatitis virus	Q89246	Y2H	19966799
Intra	DDB1	Q16531	WDTC1	Homo sapiens	Q8N5D0-4	Pull Down	19966799
Intra	DDB1	Q16531	WDTC1	Homo sapiens	Q8N5D0-4	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	DCAF1	Homo sapiens	Q9Y4B6	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DCAF1	Homo sapiens	Q9Y4B6	Anti Tag CoIP	22157821
Intra	DDB1	Q16531	DCAF11	Homo sapiens	Q8TEB1	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DDA1	Homo sapiens	Q9BW61	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	CRBN	Homo sapiens	Q96SW2	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DCAF6	Homo sapiens	Q58WW2	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	DCAF6	Homo sapiens	Q58WW2	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DCAF12	Homo sapiens	Q5T6F0	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	DCAF12	Homo sapiens	Q5T6F0	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DCAF4	Homo sapiens	Q8WV16	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	L3MBTL3	Homo sapiens	Q96JM7	Anti Bait CoIP	29691401
Intra	DDB1	Q16531	DCAF5	Homo sapiens	Q96JK2	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	DCAF5	Homo sapiens	Q96JK2	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	COPS3	Homo sapiens	Q9UNS2	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	CUL4B	Homo sapiens	Q13620	Anti Bait CoIP	19651607
Intra	DDB1	Q16531	CUL4B	Homo sapiens	Q13620	CH-IP	23238014
Intra	DDB1	Q16531	CUL4A	Homo sapiens	Q13619	Anti Bait CoIP	16473935
Intra	DDB1	Q16531	CUL4A	Homo sapiens	Q13619	Anti Bait CoIP	21113133
Intra	DDB1	Q16531	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	19966799
Intra	DDB1	Q16531	CUL4A	Homo sapiens	Q13619	Anti Tag CoIP	30945288
Intra	DDB1	Q16531	DCAF8	Homo sapiens	Q5TAQ9	Anti Tag CoIP	24500646
Intra	DDB1	Q16531	DCAF8	Homo sapiens	Q5TAQ9	Anti Tag CoIP	31391242
Intra	DDB1	Q16531	DCAF8	Homo sapiens	Q5TAQ9	X-Ray Diffraction	19966799
Intra	DDB1	Q16531	DCAF8	Homo sapiens	Q5TAQ9	Anti Tag CoIP	35271311
Intra	DDB1	Q16531	INO80	Homo sapiens	Q9ULG1	Pull Down	20855601
Intra	DDB1	Q16531	INO80	Homo sapiens	Q9ULG1	Anti Bait CoIP	20855601
Intra	DDB1	Q16531	INO80	Homo sapiens	Q9ULG1	Anti Tag CoIP	20855601
Intra	DDB1	Q16531	ACTR5	Homo sapiens	Q9H9F9	Anti Bait CoIP	20855601
Intra	DDB1	Q16531	EED	Homo sapiens	O75530	Anti Bait CoIP	23238014
Intra	DDB1	Q16531	DCAF1	Homo sapiens	Q9Y4B6-3	Anti Tag CoIP	17314515
Cross	DDB1	Q16531	x	Hepatitis B virus	Q9QMH9	X-Ray Diffraction	19966799
Cross	DDB1	Q16531	x	Hepatitis B virus	Q9QMH9	Y2H	19966799
Cross	DDB1	Q16531	P/V	Simian virus 5	P11207	Y2H	19966799
Cross	DDB1	Q16531	vpx	Human immunodeficiency virus	P18045	Anti Tag CoIP	19264781

Cross: Cross-species interaction Intra: Intraspecies interaction

DDB1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80641	DDB1 Antibody (YA785)	WB	Human, Mouse, Rat, Monkey
HY-P80641A	DDB1 Antibody (YA785)(PBS only)	WB	Human, Mouse, Rat, Monkey
HY-P85582	DDB1 Antibody (YA5274)	WB, IHC-P, ICC/IF, IP, FC, IF-Tissue	Human, Mouse, Rat

Related Diseases

Diseases	Alias
White-Kernohan Syndrome	WHIKERS Global Developmental Delay, Hypotonia, And Characteristic Facial Features
Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum V Xp5 Xeroderma Pigmentosum, Group E, Ddb-Negative Subtype Xpe Xp, Group E Xeroderma Pigmentosum, Type 5 Xeroderma Pigmentosum Complementation Group E XP-E Xp Group E
Xeroderma Pigmentosum Group E	Xeroderma Pigmentosum, Group E Xeroderma Pigmentosum V Xp Group E Xp5 Xpe Xeroderma Pigmentosum, Complementation Group E
Hepatitis B	Chronic Hepatitis B Hepatitis B Infection Serum Hepatitis HBV Hepatitis B Chronic Hbv, Susceptibility To Hepatitis B, Chronic Chronic Hepatitis B Without Delta Agent Chronic Hbv - [Hepatitis B Virus] Infection Hepatitis B Nos Chronic Type B Viral Hepatitis Hep B Nos
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Hepatitis	Chronic Hepatitis Chronic Persistent Hepatitis Acute Hepatitis Hepatitis, Chronic Acute And Subacute Liver Necrosis Acute/Subac. Necrosis Of Liver Animal Hepatitis Hepatitis Chronic Hepatitis A Hepatitis, Animal Hepatitis Due To Toxoplasmosis Hepatitis In Toxoplasmosis Toxoplasmal Hepatitis Chronic Hepatitis, Unspecified Chronic Active Hepatitis Nec Other Specified Chronic Hepatitis Chronic Persistent Hepatitis Nec Chronic Lobular Hepatitis Nec
Cockayne Syndrome	Cockayne'S Syndrome Dwarfism-Retinal Atrophy-Deafness Syndrome Neill-Dingwall Syndrome Progeria-Like Syndrome Progeroid Nanism Cs
Xeroderma Pigmentosum, Complementation Group C	Xeroderma Pigmentosum, Group C XPC Xpcc Xeroderma Pigmentosum Iii Xp3 Xeroderma Pigmentosum Group C Xp Group C Xp, Group C Xeroderma Pigmentosum, Type 3 Xeroderma Pigmentosum Complementation Group C XP-C
Cockayne Syndrome A	Cockayne Syndrome Type 1 Cockayne Syndrome, Type A Cockayne Syndrome Type I CSA Cockayne Syndrome Classic Form Cockayne Syndrome Classical Cockayne Syndrome Type A Ckn1
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Uv-Sensitive Syndrome	Uvss Uv Sensitive Syndrome Ultraviolet Sensitive Syndrome
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Autosomal Dominant Intellectual Developmental Disorder 19	Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Mental Retardation 19 Mrd19
Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Group F Xeroderma Pigmentosum Vi Xp6 Xeroderma Pigmentosum, Type F/Cockayne Syndrome XPF Xp, Group F Xeroderma Pigmentosum Group F Xp Group F Xeroderma Pigmentosum, Type 6 Xeroderma Pigmentosum Complementation Group F XP-F Xeroderma Pigmentosum Type F/Cockayne Syndrome XPF/CS
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-175890	DDB1 ligand-2		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DDB1	VGNC	VGNC:71754
Bos taurus	DDB1	VGNC	VGNC:27941
Mus musculus	DDB1	MGD	MGI:1202384
Canis familiaris	DDB1	VGNC	VGNC:39829
Felis catus	DDB1	VGNC	VGNC:61386
Rattus norvegicus	DDB1	RGD	RGD:621889
Others	DDB1	NCBI