1. Gene
  2. SFI1 - SFI1 centrin binding protein Gene

SFI1 - SFI1 centrin binding protein Gene

中文名称:SFI1 中心蛋白结合蛋白

种属: Homo sapiens

同用名: PISD; hSfi1p; PPP1R139

基因 ID: 9814 | 基因类型: protein coding

关于 SFI1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,496,139-31,618,588 (from NCBI)

This gene has 29 transcripts (splice variants), 154 orthologues and 1 paralogue. Broad expression in lymph node (RPKM 6.7), spleen (RPKM 6.6) and 25 other tissues.

功能概要

启用磷酸酶结合活性。预测位于胞质溶胶中。 [由基因组资源联盟提供,2022 年 4 月]

Enables Phosphatase binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

SFI1 基因产物(5)

mRNA Protein Name
NM_001007467.3 NP_001007468.1 protein SFI1 homolog isoform a
NM_001258325.1 NP_001245254.1 protein SFI1 homolog isoform c
NM_001258326.2 NP_001245255.1 protein SFI1 homolog isoform d
NM_001258327.2 NP_001245256.1 protein SFI1 homolog isoform e
NM_014775.4 NP_055590.2 protein SFI1 homolog isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatase binding IDA
IDA: 通过直接分析推断
19389623 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16956364 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 SFI1 homolog

Sfi1 homolog, spindle assembly associated

SFI1 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
SFI1 A8K8P3 CETN2 Homo sapiens P41208 16956364
种属内
SFI1 A8K8P3 CETN2 Homo sapiens P41208
NMR
16956364
种属内
SFI1 A8K8P3 PPP1CA Homo sapiens P62136 19389623
种属内
SFI1 A8K8P3 PPP1CA Homo sapiens P62136 19389623
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
Female-Restricted Syndromic X-Linked Intellectual Disability 99

X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability

Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted

Female-Restricted Syndromic X-Linked Mental Retardation 99

Mrxs99f

X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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
Rattus norvegicus SFI1 RGD RGD:1560636
Bos taurus SFI1 VGNC VGNC:34514
Canis familiaris SFI1 VGNC VGNC:46075
Felis catus SFI1 VGNC VGNC:65060
Macaca mulatta SFI1 VGNC VGNC:77328
Mus musculus SFI1 MGD MGI:1926137