2. Gene
  3. RAD23A - RAD23 homolog A, nucleotide excision repair protein Gene

RAD23A - RAD23 homolog A, nucleotide excision repair protein Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RAD23 同系物 A，核苷酸切除修复蛋白

种属: Homo sapiens

同用名: HR23A; HHR23A

基因 ID: 5886 | 基因类型: protein coding

关于 RAD23A

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:12,945,862-12,953,642 (from NCBI)

This gene has 11 transcripts (splice variants), 198 orthologues and 1 paralogue. Ubiquitous expression in fat (RPKM 50.3), heart (RPKM 47.4) 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的蛋白质。该家族中的蛋白质具有模块化结构域结构，由泛素样结构域 (UbL) 、泛素相关结构域 1 (UbA1) 、XPC 结合结构域和 UbA2 组成。由该基因编码的蛋白质在核苷酸切除修复以及将多泛素化蛋白质递送至蛋白酶体中起着重要作用。可变剪接导致编码多个亚型的多个转录本变体。[RefSeq 提供，2012 年 6 月]

The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the Proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]

RAD23A 基因产物(3)

mRNA Protein Name
NM_001270362.2 NP_001257291.1 UV excision repair protein RAD23 homolog A isoform 2
NM_001270363.2 NP_001257292.1 UV excision repair protein RAD23 homolog A isoform 3
NM_005053.4 NP_005044.1 UV excision repair protein RAD23 homolog A isoform 1

RAD23A 蛋白结构

ubiquitin

ubiquitin: Ubiquitin family (8 - 79)

UBA

UBA: UBA/TS-N domain (163 - 198)

XPC-binding

XPC-binding: XPC-binding domain (232 - 288)

UBA

UBA: UBA/TS-N domain (321 - 355)

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

UV excision repair protein RAD23 homolog A

RAD23, yeast homolog, A

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
Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome
Brain Sarcoma

Sarcoma Of The Brain
Hyperinsulinemic Hypoglycemia, Familial, 2

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

Familial Hyperinsulinism

Congenital Hyperinsulinism

HHF2

Nesidioblastosis

Hyperinsulinemic Hypoglycemia Due To Focal Adenomatous Hyperplasia

Familial Hyperinsulinemic Hypoglycemia 2

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

Chi

Congenital Isolated Hyperinsulinism

Hyperinsulinemic Hypoglycemia, Persistent

Hyperinsulinism, Neonatal

Hyperinsulinism, Congenital

Hyperinsulinism, Familial

Hyperinsulinemic Hypoglycemia Familial

Hyperinsulinism Congenital

Hyperinsulinism Familial With Pancreatic Nesidioblastosis

Hypoglycemia Hyperinsulinemic Of Infancy

Nesidioblastosis Of Pancreas

Hyperinsulinemic Hypoglycemia Familial 2

Hyperinsulinemia Hypoglycemia Of Infancy

Infancy Hyperinsulinemia Hypoglycemia

Neonatal Hyperinsulinism

Persistent Hyperinsulinemia Hypoglycemia Of Infancy

Persistent Hyperinsulinemic Hypoglycemia

Phhi Hypoglycemia

Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency

Autosomal Dominant Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency

Dominant Katp Hyperinsulinism Due To Kir6.2 Deficiency

Diazoxide-Resistant Focal Hyperinsulinism Due To Kir6.2 Deficiency

Hyperinsulinemic Hypoglycemia Due To Kir6.2 Deficiency, Diazoxide-Resistant Focal Form

Fhi

Familial Hyperinsulinemic Hypoglycemia

Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency

Hypoglycemia, Hyperinsulinemic, Familial, Type 2

Hi-C
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11600 RAD23A 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 RAD23A VGNC VGNC:76643
Felis catus RAD23A VGNC VGNC:69213
Mus musculus RAD23A MGD MGI:105126
Rattus norvegicus RAD23A RGD RGD:1309899
Canis familiaris RAD23A VGNC VGNC:45315
Bos taurus RAD23A VGNC VGNC:33682
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