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

    Gene ID: 65979, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:25793
    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
    mouse all
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    Genomic context

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    See PHACTR4 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28369740..28500364)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28211573..28342320)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28696251..28826876)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28585772-28586620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 537 Neighboring gene sestrin 2 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:28616419-28617413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28640148-28640648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28655585-28656092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28656093-28656600 Neighboring gene mediator complex subunit 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28695423-28696378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 538 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:28726665-28726882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 539 Neighboring gene Sharpr-MPRA regulatory region 2241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 540 Neighboring gene RNA, U6atac small nuclear 27, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7965 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28833855-28834620 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration.
      Title: Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration.
    2. Data indicate that Phactr4 acts as a tumor suppressor that is deleted and mutant in several cancers.
      Title: STOP gene Phactr4 is a tumor suppressor.
    3. The authors show that rat Phactr1 inhibits PP1 activity in vitro, and mouse Phactr4 coimmunoprecipitates with actin and PP1 in human cells.
      Title: Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13171, MGC20618, MGC34186, DKFZp686L07205

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_001048183.3 → NP_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
      A2APK6, B9ZVW0, D3DPM3, Q68DD4, Q6NUN6, Q8IZ21, Q8N384, Q9H395, Q9H6X0, Q9H8W6
      Related
      ENSP00000362945.3, ENST00000373839.8
      Conserved Domains (2) summary
      smart00707
      Location:584 → 608
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:64 → 86
      RPEL; RPEL repeat

    2. NM_001350158.2 → NP_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:592 → 616
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:72 → 94
      RPEL; RPEL repeat

    3. NM_001350159.2 → NP_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:592 → 616
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:72 → 94
      RPEL; RPEL repeat

    4. NM_001350160.2 → NP_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
      UniProtKB/Swiss-Prot
      A2APK6, B9ZVW0, D3DPM3, Q68DD4, Q6NUN6, Q8IZ21, Q8N384, Q9H395, Q9H6X0, Q9H8W6
      Conserved Domains (2) summary
      smart00707
      Location:584 → 608
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:64 → 86
      RPEL; RPEL repeat

    5. NM_001350161.2 → NP_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:568 → 592
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:48 → 70
      RPEL; RPEL repeat

    6. NM_023923.4 → NP_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:594 → 618
      RPEL; Repeat in Drosophila CG10860, human KIAA0680 and C. elegans F26H9.2
      pfam02755
      Location:74 → 96
      RPEL; RPEL repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28211573..28342320
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZ21.1 GenPept UniProtKB/Swiss-Prot:Q8IZ21

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