2. Gene
  3. UVSSA - UV stimulated scaffold protein A Gene

UVSSA - UV stimulated scaffold protein A Gene

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

中文名称：紫外线刺激的支架蛋白 A

种属: Homo sapiens

同用名: UVSS3; KIAA1530

基因 ID: 57654 | 基因类型: protein coding

关于 UVSSA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:1,342,011-1,395,989 (from NCBI)

This gene has 13 transcripts (splice variants), 85 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质似乎参与了 RNA 聚合酶 II 亚基的泛素化和去磷酸化，这些亚基在紫外线照射后停止。编码的蛋白质与核苷酸切除修复复合体的几个成员相互作用，并被认为参与转录偶联核苷酸切除修复 (TC-NER) 通路，以帮助去除 DNA 中阻碍转录的损伤。该基因的缺陷可导致紫外线敏感综合症 3。可变剪接导致多种转录物变异。[RefSeq 提供，2015 年 12 月]

The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

UVSSA 基因产物(3)

mRNA Protein Name
NM_001317934.2 NP_001304863.1 UV-stimulated scaffold protein A
NM_001317935.2 NP_001304864.1 UV-stimulated scaffold protein A
NM_020894.4 NP_065945.2 UV-stimulated scaffold protein A
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables RNA polymerase II complex binding IDA
IDA: 通过直接分析推断
22466611 GOA
enables RNA polymerase II complex binding IMP
IMP: 通过突变表型推断
22466610 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
22466611 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein ubiquitination IMP
IMP: 通过突变表型推断
22466610 GOA
involved in response to UV IMP
IMP: 通过突变表型推断
22466610 GOA
involved in transcription-coupled nucleotide-excision repair IMP
IMP: 通过突变表型推断
22466610 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromosome IDA
IDA: 通过直接分析推断
22466611 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

UVSSA 蛋白结构

DUF2043

DUF2043: Uncharacterized conserved protein (DUF2043) (496 - 605)

  • 0
  • 200
  • 400
  • 600
  • 709 a.a.
蛋白主名 其他名称

UV-stimulated scaffold protein A

UVSSA 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
种属内
UVSSA Q2YD98 KPNA3 Homo sapiens O00505
Y2H Array
32296183
种属内
UVSSA Q2YD98 KPNA3 Homo sapiens O00505
Y2H Prey Pooling
32296183
种属内
UVSSA Q2YD98 MAGEA4 Homo sapiens P43358
Y2H Array
32296183
种属内
UVSSA Q2YD98 MAGEA4 Homo sapiens P43358
Y2H Prey Pooling
32296183
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
Uv-Sensitive Syndrome 3

UVSS3
Uv-Sensitive Syndrome

Uvss

Uv Sensitive Syndrome

Ultraviolet Sensitive Syndrome
Cockayne Syndrome

Cockayne'S Syndrome

Dwarfism-Retinal Atrophy-Deafness Syndrome

Neill-Dingwall Syndrome

Progeria-Like Syndrome

Progeroid Nanism

Cs
De Sanctis-Cacchione Syndrome

Xerodermic Idiocy

Xeroderma Pigmentosum With Neurologic Manifestation

DSC

Xerodermic Idiocy Of De Sanctis And Cacchione
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
Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome

Cofs Syndrome

Pena-Shokeir Syndrome Type 2

Pena Shokeir Syndrome Type 2
Xfe Progeroid Syndrome

Xpf-Ercc1 Progeroid Syndrome

XFEPS
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
Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2
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
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

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-RS15589 UVSSA 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 UVSSA VGNC VGNC:107209
Bos taurus UVSSA VGNC VGNC:36752
Mus musculus UVSSA MGD MGI:1918351
Canis familiaris UVSSA VGNC VGNC:48219
Felis catus UVSSA VGNC VGNC:80116
Rattus norvegicus UVSSA RGD RGD:1306371
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