PPP4R4 - protein phosphatase 4 regulatory subunit 4 Gene

中文名称：蛋白磷酸酶 4 调节亚基 4

种属: Homo sapiens

同用名: PP4R4; CFAP14; KIAA1622

基因 ID: 57718 | 基因类型: protein coding

关于 PPP4R4

Cytogenetic location: 14q32.12-q32.13 Genomic coordinates (GRCh38): 14:94,174,322-94,279,734 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele and 199 orthologues. Biased expression in brain (RPKM 8.5), testis (RPKM 5.4) and 3 other tissues.

功能概要

该基因编码的蛋白质是一种含有 HEAT 样重复序列的蛋白质。 HEAT 重复序列是串联重复的 37-47 个氨基酸长的模块，出现在许多细胞质蛋白中。 HEAT 重复阵列形成棒状螺旋结构，似乎起到蛋白质-蛋白质相互作用表面的作用。该蛋白的重复区域与蛋白磷酸酶 2A PR65/A 亚基的恒定调节域有一些相似之处。编码的蛋白质结合细胞质中的蛋白质丝氨酸/苏氨酸磷酸酶 4c。[RefSeq 提供，2017 年 1 月]

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein Phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine Phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]

PPP4R4 基因产物(6)

mRNA	Protein	Name
NM_001348142.2	NP_001335071.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 3
NM_001348143.2	NP_001335072.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348144.2	NP_001335073.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4
NM_001348145.2	NP_001335074.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 5
NM_020958.3	NP_066009.2	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 2
NM_058237.2	NP_478144.1	serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 1

基因本体论

分子功能
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	18715871	GOA
enables protein phosphatase regulator activity	IDA IDA: 通过直接分析推断	18715871	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	18715871	GOA
part of protein serine/threonine phosphatase complex	IDA IDA: 通过直接分析推断	18715871	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

serine/threonine-protein phosphatase 4 regulatory subunit 4

HEAT-like repeat-containing protein

关联疾病

疾病名称

别名

Spondylocarpotarsal Synostosis Syndrome

SCT	Spondylocarpotarsal Syndrome
Vertebral Fusion With Carpal Coalition	Congenital Scoliosis With Unilateral Unsegmented Bar
Congenital Synspondylism	Spondylocarpotarsal Synostosis
Synspondylism, Congenital	Scoliosis, Congenital, With Unilateral Unsegmented Bar
Scoliosis, Congenital With Unilateral Unsegmented Bar	Synspondylism Congenital
Sct Syndrome	Synspondylism

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11031	PPP4R4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	PPP4R4	MGD	MGI:1921771
Felis catus	PPP4R4	VGNC	VGNC:64331
Bos taurus	PPP4R4	VGNC	VGNC:53947
Canis familiaris	PPP4R4	VGNC	VGNC:44924
Macaca mulatta	PPP4R4	VGNC	VGNC:76306
Rattus norvegicus	PPP4R4	RGD	RGD:1560932

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