1. Gene
  2. SPIRE1 - spire type actin nucleation factor 1 Gene

SPIRE1 - spire type actin nucleation factor 1 Gene

中文名称:螺旋型肌动蛋白成核因子 1

种属: Homo sapiens

同用名: Spir-1

基因 ID: 56907 | 基因类型: protein coding

关于 SPIRE1

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,446,512-12,662,091 (from NCBI)

This gene has 13 transcripts (splice variants), 291 orthologues and 1 paralogue. Broad expression in brain (RPKM 20.7), testis (RPKM 14.2) and 22 other tissues.

功能概要

Spire 蛋白,如 SPIRE1,在物种间高度保守。它们属于 Wiskott-Aldrich 同源区域 2 (WH2) 蛋白家族,参与肌动蛋白组织 (Kerkhoff 等人,2001 [PubMed 11747823]) 。[OMIM 提供,2008 年 3 月]

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]

SPIRE1 基因产物(6)

mRNA Protein Name
NM_001128626.2 NP_001122098.1 protein spire homolog 1 isoform a
NM_001128627.1 NP_001122099.1 protein spire homolog 1 isoform c
NM_001394323.1 NP_001381252.1 protein spire homolog 1 isoform d
NM_001394324.1 NP_001381253.1 protein spire homolog 1 isoform e
NM_001394325.1 NP_001381254.1 protein spire homolog 1 isoform f
NM_020148.3 NP_064533.3 protein spire homolog 1 isoform b
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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
21620703 GOA
involved in establishment of meiotic spindle localization IMP
IMP: 通过突变表型推断
21620703 GOA
involved in formin-nucleated actin cable assembly IMP
IMP: 通过突变表型推断
26287480 GOA
involved in positive regulation of double-strand break repair IMP
IMP: 通过突变表型推断
26287480 GOA
involved in positive regulation of mitochondrial fission IMP
IMP: 通过突变表型推断
26305500 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial outer membrane IDA
IDA: 通过直接分析推断
26305500 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

protein spire homolog 1

spire actin nucleation factor 1

SPIRE1 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
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4 32296183
种属内
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4 32296183
种属内
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4 32296183
种属内
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284 32814053
种属内
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284 32814053
种属内
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284 32814053
种属内
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637 32814053
种属内
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637 32814053
种属内
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637 32814053
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
Smallpox

Variola

Ordinary Smallpox

Alastrim

Amaas

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia

Familial Hyperbetalipoproteinaemia

Familial Hypercholesteremia

Fredrickson Type Iia Hyperlipoproteinemia

Fredrickson Type Iia Lipidaemia

Hyperbetalipoproteinemia

Type Ii Hyperlipidemia

Familial Hypercholesterolæmia

Familial Hypercholesterolaemia

Fh

Hypercholesterolemia Familial

Hyperlipoproteinemia Type Ii

Hypercholesterolemia, Familial

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 SPIRE1 VGNC VGNC:46748
Bos taurus SPIRE1 VGNC VGNC:35222
Felis catus SPIRE1 VGNC VGNC:80492
Mus musculus SPIRE1 MGD MGI:1915416
Macaca mulatta SPIRE1 VGNC VGNC:104250
Rattus norvegicus SPIRE1 RGD RGD:1305892