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

PHACTR4 - phosphatase and actin regulator 4 Gene

Homo sapiens

Also known as PPP1R124

Gene ID: 65979 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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.
Protein Preferred Names Protein Names

phosphatase and actin regulator 4

protein phosphatase 1, regulatory subunit 124

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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