2. Gene
  3. ATXN7L3 - ataxin 7 like 3 Gene

ATXN7L3 - ataxin 7 like 3 Gene

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

中文名称：共济失调蛋白 7 样 3

种属: Homo sapiens

同用名: SGF11

基因 ID: 56970 | 基因类型: protein coding

关于 ATXN7L3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,191,805-44,199,884 (from NCBI)

This gene has 12 transcripts (splice variants), 206 orthologues and 4 paralogues. Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues.

功能概要

启用核受体共激活因子活性。参与组蛋白去泛素化；组蛋白单泛素化；和转录的正调控，DNA 模板。位于核内。 DUBm 复合体和 SAGA 复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables nuclear receptor coactivator activity. Involved in histone deubiquitination; histone monoubiquitination; and positive regulation of transcription, DNA-templated. Located in nucleus. Part of DUBm complex and SAGA complex. [provided by Alliance of Genome Resources, Apr 2022]

ATXN7L3 基因产物(9)

mRNA Protein Name
NM_001382308.1 NP_001369237.1 ataxin-7-like protein 3 isoform a
NM_001382309.1 NP_001369238.1 ataxin-7-like protein 3 isoform b
NM_001382310.1 NP_001369239.1 ataxin-7-like protein 3 isoform a
NM_001382311.1 NP_001369240.1 ataxin-7-like protein 3 isoform b
NM_001382312.1 NP_001369241.1 ataxin-7-like protein 3 isoform b
NM_001382313.1 NP_001369242.1 ataxin-7-like protein 3 isoform b
NM_001382314.1 NP_001369243.1 ataxin-7-like protein 3 isoform c
NM_001382315.1 NP_001369244.1 ataxin-7-like protein 3 isoform c
NM_001382316.1 NP_001369245.1 ataxin-7-like protein 3 isoform d
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 nuclear receptor coactivator activity IDA
IDA: 通过直接分析推断
18206972 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18206972 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
18206972 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
18206972 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
9603525 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DUBm complex IDA
IDA: 通过直接分析推断
27601583 GOA
part of SAGA complex IDA
IDA: 通过直接分析推断
18206972 GOA
located in nucleus IDA
IDA: 通过直接分析推断
27601583 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

ATXN7L3 蛋白结构

Sgf11

Sgf11: Sgf11 (transcriptional regulation protein) (80 - 112)

SCA7

SCA7: SCA7, zinc-binding domain (207 - 237)

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

ataxin-7-like protein 3

ATXN7L3 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
ATXN7L3 Q14CW9 USP22 Homo sapiens Q9UPT9-2
Validated Y2H
32296183
种属内
ATXN7L3 Q14CW9 ENY2 Homo sapiens Q9NPA8
Validated Y2H
32296183
种属内
ATXN7L3 Q14CW9 ENY2 Homo sapiens Q9NPA8
Anti Tag CoIP
33961781
种属内
ATXN7L3 Q14CW9 ENY2 Homo sapiens Q9NPA8
TAP
24981860
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
Non-Syndromic X-Linked Intellectual Disability 99

Mrx99

X-Linked Mental Retardation 99
Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Type 7

SCA7

Opca3

Opca Iii

Olivopontocerebellar Atrophy Iii

Opca With Retinal Degeneration

Opca With Macular Degeneration And External Ophthalmoplegia

Adca, Type Ii

Autosomal Dominant Cerebellar Ataxia Type 2

Olivopontocerebellar Atrophy 3

Autosomal Dominant Cerebellar Ataxia, Type Ii

Autosomal Dominant Cerebellar Ataxia Type Ii

Adca2

Adcaii

Ataxia With Pigmentary Retinopathy

Cerebellar Syndrome-Pigmentary Maculopathy Syndrome

Olivopontocerebellar Atrophy With Retinal Degeneration

Spinocerebellar Ataxia-7

Ataxia, Spinocerebellar, Type 7
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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-RS01262 ATXN7L3 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus ATXN7L3 VGNC VGNC:26345
Macaca mulatta ATXN7L3 VGNC VGNC:70128
Canis familiaris ATXN7L3 VGNC VGNC:38306
Mus musculus ATXN7L3 MGD MGI:3036270
Rattus norvegicus ATXN7L3 RGD RGD:1311493
Felis catus ATXN7L3 VGNC VGNC:60040
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