DDB1 - damage specific DNA binding protein 1 Gene

中文名称：损伤特异性 DNA 结合蛋白 1

种属: Homo sapiens

同用名: XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1; WHIKERS

基因 ID: 1642 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是异二聚体 DNA 损伤结合 (DDB) 复合物的大亚基 (p127) ，而另一种蛋白质 (p48) 形成小亚基。这种蛋白质复合物在核苷酸切除修复中起作用，并在紫外线损伤后与 DNA 结合。这种复合物的活性缺陷导致着色性干皮病互补组 E (XPE) 患者的修复缺陷 - 一种常染色体隐性遗传病，其特征是光敏性和癌症早发。然而，仍有待突变分析来证明 XPE 患者的缺陷是在该基因中还是在编码小亚基的基因中。此外，Best vitelliform mascular dystrophy 在 11q 上被映射到与该基因相同的区域，但在 Best 疾病患者中没有证明该基因的序列改变。由该基因编码的蛋白质还通过促进底物与该复合物的结合和蛋白质的泛素化，作为 cullin 4 (CUL4) 泛素 E3 连接酶复合物的衔接分子发挥作用。[RefSeq 提供，2012 年 5 月]

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 基因产物(1)

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

DDB1 蛋白结构

MMS1_N

CPSF_A

0
200
400
600
800
1000
1140 a.a.

蛋白主名

其他名称

DNA damage-binding protein 1

DDB p127 subunit

DDB1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
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

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	是否罕见病
HY-14658	Thalidomide	Inducer	99.92%	是

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-144981	HQ461	Inhibitor	98.10%	否
HY-122653A	CCT367766 formic		98.02%	否
HY-163944	LL-K12-18		98.42%	否
HY-161633	PROTAC EGFR degrader 11	Degrader	/	否
HY-122653	CCT367766		/	否
HY-14658S	Thalidomide-d4	Inducer	98.03%	否
HY-150641	CDK-IN-9		/	否
HY-161166	MM-02-57		/	否
HY-161167	MM-02-08	Degrader	/	否
HY-161632	PROTAC EGFR degrader 10	Degrader	/	否
HY-RS03606	DDB1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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