1. Gene
  2. PPEF1 - protein phosphatase with EF-hand domain 1 Gene

PPEF1 - protein phosphatase with EF-hand domain 1 Gene

中文名称:具有 EF 手域 1 的蛋白磷酸酶

种属: Homo sapiens

同用名: PP7; PPEF; PPP7C; PPP7CA

基因 ID: 5475 | 基因类型: protein coding

关于 PPEF1

Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:18,675,067-18,827,917 (from NCBI)

This gene has 10 transcripts (splice variants), 228 orthologues and 12 paralogues. Biased expression in testis (RPKM 8.3) and brain (RPKM 1.3).

功能概要

该基因编码具有 EF 手基序家族的丝氨酸/苏氨酸蛋白磷酸酶成员。该蛋白质包含一个蛋白磷酸酶催化结构域,并且在其 C 末端至少包含两个 EF 手钙结合基序。尽管其底物未知,但已表明编码的蛋白质在特定感觉神经元功能和/或发育中发挥作用。该基因与果蝇视网膜变性 C (rdgC) 基因具有高度序列相似性。已经描述了几种可变剪接的转录本变体,每个变体编码不同的同种型。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the serine/threonine protein Phosphatase with EF-hand motif family. The protein contains a protein Phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]

PPEF1 基因产物(14)

mRNA Protein Name
NM_001377986.2 NP_001364915.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001377993.1 NP_001364922.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001377994.1 NP_001364923.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 2
NM_001377995.1 NP_001364924.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 4
NM_001377996.1 NP_001364925.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001378381.1 NP_001365310.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001378382.1 NP_001365311.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 5
NM_001389620.1 NP_001376549.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001389621.1 NP_001376550.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_001389623.1 NP_001376552.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 3
NM_001389624.1 NP_001376553.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 4
NM_006240.4 NP_006231.2 serine/threonine-protein phosphatase with EF-hands 1 isoform 1
NM_152224.2 NP_689410.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 1b
NM_152226.2 NP_689412.1 serine/threonine-protein phosphatase with EF-hands 1 isoform 3
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 protein binding IPI
IPI: 通过物理相互作用推断
12051765 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

PPEF1 蛋白结构

IQ

IQ: IQ calmodulin-binding motif (18 - 35)

PPP5

PPP5: PPP5 TPR repeat region (92 - 158)

Metallophos

Metallophos: Calcineurin-like phosphoesterase (167 - 407)

EF-hand_7

EF-hand_7: EF-hand domain pair (574 - 635)

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  • 653 a.a.
蛋白主名 其他名称

serine/threonine-protein phosphatase with EF-hands 1

protein phosphatase 7, catalytic subunit, alpha isozyme

PPEF1 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
PPEF1 O14829 NEK7 Homo sapiens Q8TDX7 32814053
种属内
PPEF1 O14829 NEK7 Homo sapiens Q8TDX7 32814053
种属内
PPEF1 O14829 NEK7 Homo sapiens Q8TDX7 32814053
种属内
PPEF1 O14829 AHCYL1 Homo sapiens O43865 32814053
种属内
PPEF1 O14829 AHCYL1 Homo sapiens O43865 32814053
种属内
PPEF1 O14829 AHCYL1 Homo sapiens O43865 32814053
种属内
PPEF1 O14829 DLST Homo sapiens P36957 32814053
种属内
PPEF1 O14829 DLST Homo sapiens P36957 32814053
种属内
PPEF1 O14829 DLST Homo sapiens P36957 32814053
种属间
PPEF1 O14829 Calm1 Mus musculus P0DP27
Y2H
12051765
种属间
PPEF1 O14829 Calm1 Mus musculus P0DP27
SPR
12051765
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
Retinal Degeneration

Degeneration Of Retina

Retinitis Pigmentosa 4

RP4

Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive

Retinitis Pigmentosa, Rhodopsin-Related

Retinitis Pigmentosa, Type 4

Pineal Parenchymal Tumor Of Intermediate Differentiation

Pineal Parenchymal Tumour Of Intermediate Differentiation

Pineal Parenchymal Tumors Of Intermediate Differentiation

Pptid

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 PPEF1 MGD MGI:1097157
Felis catus PPEF1 VGNC VGNC:68981
Rattus norvegicus PPEF1 RGD RGD:1562772
Canis familiaris PPEF1 VGNC VGNC:44842
Macaca mulatta PPEF1 VGNC VGNC:76232
Bos taurus PPEF1 VGNC VGNC:33190