DDB1 - damage specific DNA binding protein 1 Gene

Homo sapiens

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

Gene ID: 1642 | Gene type: protein coding

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

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

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14658	Thalidomide	Inducer	99.92%	Unkown

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-144981	HQ461	Inhibitor	98.07%	Unkown
HY-122653A	CCT367766 formic		98.02%	Unkown
HY-122653	CCT367766		/	Unkown
HY-14658S	Thalidomide-d4	Inducer	98.03%	Unkown
HY-150641	CDK-IN-9		/	Unkown
HY-161166	MM-02-57		/	Unkown
HY-161167	MM-02-08	Degrader	/	Unkown
HY-RS03606	DDB1 Human Pre-designed siRNA Set A		/	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

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