1. Gene
  2. PHACTR4 - phosphatase and actin regulator 4 Gene

PHACTR4 - phosphatase and actin regulator 4 Gene

中文名称:磷酸酶和肌动蛋白调节因子 4

种属: Homo sapiens

同用名: PPP1R124

基因 ID: 65979 | 基因类型: protein coding

关于 PHACTR4

Cytogenetic location: 1p35.3 Genomic coordinates (GRCh38): 1:28,369,740-28,500,364 (from NCBI)

This gene has 9 transcripts (splice variants), 291 orthologues and 3 paralogues. Ubiquitous expression in esophagus (RPKM 8.8), thyroid (RPKM 5.5) and 25 other tissues.

功能概要

该基因编码磷酸酶和肌动蛋白调节剂 (PHACTR) 家族的成员。其他 PHACTR 家族成员已被证明可抑制蛋白磷酸酶 1 (PP1) 活性,并且该基因在小鼠中的同系物已被证明与肌动蛋白和 PP1 相互作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the Phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein Phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PHACTR4 基因产物(6)

mRNA Protein Name
NM_001048183.3 NP_001041648.1 phosphatase and actin regulator 4 isoform 1
NM_001350158.2 NP_001337087.1 phosphatase and actin regulator 4 isoform 3
NM_001350159.2 NP_001337088.1 phosphatase and actin regulator 4 isoform 3
NM_001350160.2 NP_001337089.1 phosphatase and actin regulator 4 isoform 1
NM_001350161.2 NP_001337090.1 phosphatase and actin regulator 4 isoform 4
NM_023923.4 NP_076412.3 phosphatase and actin regulator 4 isoform 2

PHACTR4 蛋白结构

RPEL

RPEL: RPEL repeat (64 - 88)

RPEL

RPEL: RPEL repeat (584 - 607)

RPEL

RPEL: RPEL repeat (622 - 645)

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

phosphatase and actin regulator 4

protein phosphatase 1, regulatory subunit 124

关联疾病

疾病名称 别名
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

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
Bos taurus PHACTR4 VGNC VGNC:32806
Canis familiaris PHACTR4 VGNC VGNC:44475
Mus musculus PHACTR4 MGD MGI:2140327
Macaca mulatta PHACTR4 VGNC VGNC:75864
Felis catus PHACTR4 VGNC VGNC:107598
Rattus norvegicus PHACTR4 RGD RGD:1592823