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  2. RAD23B - RAD23 homolog B, nucleotide excision repair protein Gene

RAD23B - RAD23 homolog B, nucleotide excision repair protein Gene

中文名称:RAD23 同系物 B,核苷酸切除修复蛋白

种属: Homo sapiens

同用名: P58; HR23B; HHR23B

基因 ID: 5887 | 基因类型: protein coding

关于 RAD23B

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:107,283,279-107,332,194 (from NCBI)

This gene has 5 transcripts (splice variants), 232 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 44.7), fat (RPKM 43.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质是酿酒酵母 Rad23 的两个人类同系物之一,这是一种参与核苷酸切除修复 (NER) 的蛋白质。发现该蛋白质是蛋白质复合物的一个组分,该蛋白质复合物在体外特异性补充着色性干皮病 C 组 (XP-c) 细胞提取物的 NER 缺陷。该蛋白质还显示与 3-甲基腺嘌呤-DNA 糖基化酶 (MPG) 相互作用并提高其核苷酸切除活性,这表明在碱基切除修复中的 DNA 损伤识别中发挥作用。该蛋白含有一个 N 端泛素样结构域,据报道该结构域与 26S 蛋白酶体相互作用,因此该蛋白可能参与细胞中泛素介导的蛋白水解途径。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2011 年 9 月]

The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S Proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]

RAD23B 基因产物(3)

mRNA Protein Name
NM_001244713.1 NP_001231642.1 UV excision repair protein RAD23 homolog B isoform 2
NM_001244724.2 NP_001231653.1 UV excision repair protein RAD23 homolog B isoform 3
NM_002874.5 NP_002865.1 UV excision repair protein RAD23 homolog B isoform 1

RAD23B 蛋白结构

ubiquitin

ubiquitin: Ubiquitin family (6 - 77)

UBA

UBA: UBA/TS-N domain (190 - 225)

XPC-binding

XPC-binding: XPC-binding domain (276 - 333)

UBA

UBA: UBA/TS-N domain (367 - 401)

  • 0
  • 100
  • 200
  • 300
  • 409 a.a.
蛋白主名 其他名称

UV excision repair protein RAD23 homolog B

RAD23, yeast homolog of, B

关联疾病

疾病名称 别名
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

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

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

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

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

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

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

De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione

Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus RAD23B MGD MGI:105128
Bos taurus RAD23B VGNC VGNC:33683
Macaca mulatta RAD23B VGNC VGNC:76644
Rattus norvegicus RAD23B RGD RGD:1562958
Canis familiaris RAD23B VGNC VGNC:45316
Felis catus RAD23B VGNC VGNC:69214