1. Gene
  2. FIGNL1 - fidgetin like 1 Gene

FIGNL1 - fidgetin like 1 Gene

中文名称:坐立不安样 1

种属: Homo sapiens

基因 ID: 63979 | 基因类型: protein coding

关于 FIGNL1

Cytogenetic location: 7p12.2 Genomic coordinates (GRCh38): 7:50,444,133-50,450,350 (from NCBI)

This gene has 14 transcripts (splice variants), 182 orthologues and 9 paralogues. Ubiquitous expression in lymph node (RPKM 1.9), appendix (RPKM 1.8) and 24 other tissues.

功能概要

该基因编码 AAA ATPase 蛋白质家族的成员。编码的蛋白质被募集到 DNA 损伤位点,在那里它通过同源重组在 DNA 双链断裂修复中发挥作用。这种蛋白质也被证明定位于中心体并抑制纤毛发生,并可能调节成骨细胞的增殖和分化。[RefSeq 提供,2016 年 10 月]

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein is recruited to sites of DNA damage where it plays a role in DNA double-strand break repair via homologous recombination. This protein has also been shown to localize to the centrosome and inhibit ciliogenesis, and may regulate the proliferation and differentiation of osteoblasts. [provided by RefSeq, Oct 2016]

FIGNL1 基因产物(15)

mRNA Protein Name
NM_001042762.5 NP_001036227.1 fidgetin-like protein 1 isoform 1
NM_001287492.4 NP_001274421.1 fidgetin-like protein 1 isoform 1
NM_001287493.3 NP_001274422.1 fidgetin-like protein 1 isoform 1
NM_001287494.4 NP_001274423.1 fidgetin-like protein 1 isoform 1
NM_001287495.3 NP_001274424.1 fidgetin-like protein 1 isoform 1
NM_001287496.4 NP_001274425.1 fidgetin-like protein 1 isoform 2
NM_001346558.3 NP_001333487.1 fidgetin-like protein 1 isoform 2
NM_001346559.3 NP_001333488.1 fidgetin-like protein 1 isoform 2
NM_001346560.3 NP_001333489.1 fidgetin-like protein 1 isoform 1
NM_001346561.3 NP_001333490.1 fidgetin-like protein 1 isoform 1
NM_001346562.3 NP_001333491.1 fidgetin-like protein 1 isoform 1
NM_001346563.3 NP_001333492.1 fidgetin-like protein 1 isoform 1
NM_001346564.3 NP_001333493.1 fidgetin-like protein 1 isoform 1
NM_001346565.3 NP_001333494.1 fidgetin-like protein 1 isoform 1
NM_022116.7 NP_071399.2 fidgetin-like protein 1 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 protein binding IPI
IPI: 通过物理相互作用推断
23754376 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to ionizing radiation IDA
IDA: 通过直接分析推断
23754376 GOA
involved in regulation of double-strand break repair via homologous recombination IDA
IDA: 通过直接分析推断
23754376 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear chromosome IDA
IDA: 通过直接分析推断
23754376 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

FIGNL1 蛋白结构

AAA

AAA: ATPase family associated with various cellular activities (AAA) (437 - 566)

Vps4_C

Vps4_C: Vps4 C terminal oligomerisation domain (638 - 671)

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

fidgetin-like protein 1

FIGNL1 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
FIGNL1 Q6PIW4 ITGB1BP1 Homo sapiens O14713 25416956
种属内
FIGNL1 Q6PIW4 GCC1 Homo sapiens Q96CN9 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
Hermansky-Pudlak Syndrome 3

HPS3

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial

Delta Storage Pool Disease

Hermansky-Pudlak Syndrome, Type 3

Platelet Storage Pool Deficiency

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Third Cranial Nerve Disease

Disorder Of Oculomotor Nerve

Oculomotor Nerve Disorder

Oculomotor Nerve Paralysis

Third Cranial Nerve Disorder

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
Mus musculus FIGNL1 MGD MGI:1890648
Canis familiaris FIGNL1 VGNC VGNC:40880
Bos taurus FIGNL1 VGNC VGNC:29011
Rattus norvegicus FIGNL1 RGD RGD:1307112
Macaca mulatta FIGNL1 VGNC VGNC:72483