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PHACTR4 phosphatase and actin regulator 4 [ Homo sapiens (human) ]

Gene ID: 65979, updated on 24-Nov-2020

Summary

Official Symbol
PHACTR4provided by HGNC
Official Full Name
phosphatase and actin regulator 4provided by HGNC
Primary source
HGNC:HGNC:25793
See related
Ensembl:ENSG00000204138 MIM:608726
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPP1R124
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]
Expression
Ubiquitous expression in esophagus (RPKM 8.8), thyroid (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See PHACTR4 in Genome Data Viewer
Location:
1p35.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (28369740..28500364)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28696093..28826881)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sestrin 2 Neighboring gene mediator complex subunit 18 Neighboring gene Sharpr-MPRA regulatory region 70 Neighboring gene RNA, U6atac small nuclear 27, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 73A Neighboring gene small nucleolar RNA, H/ACA box 73B Neighboring gene small nucleolar RNA host gene 3 Neighboring gene regulator of chromosome condensation 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13171, MGC20618, MGC34186, DKFZp686L07205

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphatase 1 binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein phosphatase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Rho protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
closure of optic fissure ISS
Inferred from Sequence or Structural Similarity
more info
 
enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of integrin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of catalytic activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
lamellipodium ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
phosphatase and actin regulator 4
Names
protein phosphatase 1, regulatory subunit 124

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001048183.3NP_001041648.1  phosphatase and actin regulator 4 isoform 1

    See identical proteins and their annotated locations for NP_001041648.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.Variants 1 and 5 encode the same protein (isoform 1).
    Source sequence(s)
    AL670471, CR391992
    Consensus CDS
    CCDS41293.1
    UniProtKB/Swiss-Prot
    Q8IZ21
    Related
    ENSP00000362945.3, ENST00000373839.8
    Conserved Domains (2) summary
    smart00707
    Location:584608
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:6486
    RPEL; RPEL repeat
  2. NM_001350158.2NP_001337087.1  phosphatase and actin regulator 4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini, but contains an additional internal segment when compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:592616
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:7294
    RPEL; RPEL repeat
  3. NM_001350159.2NP_001337088.1  phosphatase and actin regulator 4 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR and contains an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) has the same N- and C-termini, but contains an additional internal segment when compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:592616
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:7294
    RPEL; RPEL repeat
  4. NM_001350160.2NP_001337089.1  phosphatase and actin regulator 4 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1 and 5 encode the same protein (isoform 1).
    Source sequence(s)
    AL670471, CR391992
    Consensus CDS
    CCDS41293.1
    Conserved Domains (2) summary
    smart00707
    Location:584608
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:6486
    RPEL; RPEL repeat
  5. NM_001350161.2NP_001337090.1  phosphatase and actin regulator 4 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' region, resulting in the use of a downstream start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus when compared to isoform 1.
    Source sequence(s)
    AL670471, CR391992
    Conserved Domains (2) summary
    smart00707
    Location:568592
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:4870
    RPEL; RPEL repeat
  6. NM_023923.4NP_076412.3  phosphatase and actin regulator 4 isoform 2

    See identical proteins and their annotated locations for NP_076412.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and initiates translation at an alternative AUG, compared to variant 1. The resulting isoform (2) has a distinct and longer N-terminus when compared to isoform 1.
    Source sequence(s)
    CR391992, CR589951
    Consensus CDS
    CCDS41294.1
    UniProtKB/Swiss-Prot
    Q8IZ21
    Related
    ENSP00000362942.3, ENST00000373836.4
    Conserved Domains (2) summary
    smart00707
    Location:594618
    RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
    pfam02755
    Location:7496
    RPEL; RPEL repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    28369740..28500364
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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