1. Gene
  2. AKIRIN1 - akirin 1 Gene

AKIRIN1 - akirin 1 Gene

中文名称:阿基林 1

种属: Homo sapiens

同用名: STRF2; C1orf108

基因 ID: 79647 | 基因类型: protein coding

关于 AKIRIN1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:38,991,276-39,006,059 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues and 1 paralogue. Ubiquitous expression in testis (RPKM 41.1), bone marrow (RPKM 25.3) and 25 other tissues.

功能概要

预测启用转录共调节因子活动。预计参与多个过程,包括参与骨骼肌再生的成肌细胞迁移;卫星细胞分化的负调控;和 lamellipodium 组件的正向调节。位于核膜和核质中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable transcription coregulator activity. Predicted to be involved in several processes, including myoblast migration involved in skeletal muscle regeneration; negative regulation of satellite cell differentiation; and positive regulation of lamellipodium assembly. Located in nuclear membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

AKIRIN1 基因产物(2)

mRNA Protein Name
NM_001136275.2 NP_001129747.1 akirin-1 isoform 2
NM_024595.3 NP_078871.1 akirin-1 isoform 1
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
18066067 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
蛋白主名 其他名称

akirin-1

AKIRIN1 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
AKIRIN1 Q9H9L7 GOPC Homo sapiens Q9HD26
Y2H Array
25416956
种属内
AKIRIN1 Q9H9L7 GOPC Homo sapiens Q9HD26
Y2H Prey Pooling
25416956
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
Metacarpal 4-5 Fusion

Syndactyly Type 8

MF4

Fusion Of Metacarpals 4 And 5

Metacarpals 4 And 5 Fusion

Metacarpal 4 5 Fusion

Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1

Neuronopathy, Distal Hereditary Motor, Type Iia

HMN2A

Hmn Iia

Neuropathy, Distal Hereditary Motor, Type Iia

Dhmn2a

Distal Hereditary Motor Neuronopathy Type 2a

Distal Hereditary Motor Neuropathy Type Iia

Neuronopathy, Distal Hereditary Motor, Type 2a

Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia

Charcot-Marie-Tooth Disease, Spinal, Iia

Autosomal Dominant Adult Spinal Muscular Atrophy Iia

Spinal Charcot-Marie-Tooth Disease Iia

Neuronopathy, Distal Hereditary Motor, 2a

Charcot-Marie-Tooth Disease Spinal Iia

Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia

Neuropathy, Motor, Distal, Hereditary, Type 2a

Syndactyly, Type Iii

Syndactyly Type 3

SDTY3

Ring And Little Finger Syndactyly

Syndactyly Of Fingers Iv And V

Syndactyly Of Fingers 4 And 5

Ringand Little Finger Syndactyly

Syndactyly Of Fingers Four And Five

Syndactyly Of The Ring And Little Finger

Sd3

Syndactyly 3

Syndactyly Type Iii

4-5 Finger Syndactyly

Syndactyly, Type 3

Brachydactyly, Type B2

Brachydactyly Type B2

BDB2

Brachydactyly B2

Nemaline Myopathy 11, Autosomal Recessive

NEM11

Nemaline Myopathy 11

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
Bos taurus AKIRIN1 VGNC VGNC:25793
Canis familiaris AKIRIN1 VGNC VGNC:37765
Felis catus AKIRIN1 VGNC VGNC:80132
Rattus norvegicus AKIRIN1 RGD RGD:1585989
Macaca mulatta AKIRIN1 VGNC VGNC:99841
Mus musculus AKIRIN1 MGD MGI:1915300