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  2. ANLN - anillin, actin binding protein Gene

ANLN - anillin, actin binding protein Gene

中文名称:anillin, 肌动蛋白结合蛋白

种属: Homo sapiens

同用名: scra; FSGS8; Scraps

基因 ID: 54443 | 基因类型: protein coding

关于 ANLN

Cytogenetic location: 7p14.2 Genomic coordinates (GRCh38): 7:36,389,862-36,453,791 (from NCBI)

This gene has 13 transcripts (splice variants), 209 orthologues, 2 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 30.2), bone marrow (RPKM 11.3) and 11 other tissues.

功能概要

该基因编码一种肌动蛋白结合蛋白,在细胞生长和迁移以及胞质分裂中发挥作用。编码的蛋白质被认为可以调节足细胞 (肾小球的组成部分) 中的肌动蛋白细胞骨架动力学。该基因的突变与局灶性节段性肾小球硬化症 8 相关。可变剪接导致编码不同异构体的多个转录物变体。[RefSeq 提供,2014 年 10 月]

This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

ANLN 基因产物(3)

mRNA Protein Name
NM_001284301.3 NP_001271230.1 anillin isoform 2
NM_001284302.3 NP_001271231.1 anillin isoform 3
NM_018685.5 NP_061155.2 anillin isoform 1
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 actin binding IDA
IDA: 通过直接分析推断
10931866 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within mitotic cytokinesis IDA
IDA: 通过直接分析推断
10931866 GOA
involved in podocyte cell migration IMP
IMP: 通过突变表型推断
24676636 GOA
involved in positive regulation of bleb assembly IMP
IMP: 通过突变表型推断
23870127 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in actin cytoskeleton IDA
IDA: 通过直接分析推断
10931866 GOA
located in actomyosin contractile ring IDA
IDA: 通过直接分析推断
10931866 GOA
located in bleb IDA
IDA: 通过直接分析推断
23870127 GOA
located in cell cortex IDA
IDA: 通过直接分析推断
23870127 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

ANLN 蛋白结构

Anillin

Anillin: Cell division protein anillin (799 - 953)

PH

PH: PH domain (987 - 1105)

  • 0
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  • 1000
  • 1124 a.a.
蛋白主名 其他名称

anillin

关联疾病

疾病名称 别名
Focal Segmental Glomerulosclerosis 8

FSGS8

Glomerulosclerosis, Focal Segmental, 8

Glomerulosclerosis, Focal Segmental, Type 8

Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Spinocerebellar Ataxia 44

SCA44

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

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
Canis familiaris ANLN VGNC VGNC:37922
Felis catus ANLN VGNC VGNC:59826
Bos taurus ANLN VGNC VGNC:25950
Rattus norvegicus ANLN RGD RGD:1561367
Mus musculus ANLN MGD MGI:1920174
Macaca mulatta ANLN VGNC VGNC:69610