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    PPP4R4 protein phosphatase 4 regulatory subunit 4 [ Homo sapiens (human) ]

    Gene ID: 57718, updated on 9-Dec-2024

    Summary

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    Official Symbol
    PPP4R4provided by HGNC
    Official Full Name
    protein phosphatase 4 regulatory subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:23788
    See related
    Ensembl:ENSG00000119698 MIM:616790; AllianceGenome:HGNC:23788
    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
    PP4R4; CFAP14; KIAA1622
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 8.5), testis (RPKM 5.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPP4R4 in Genome Data Viewer
    Location:
    14q32.12-q32.13
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94174322..94279734)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88401597..88507017)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94640659..94746071)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94605193-94605692 Neighboring gene interferon alpha inducible protein 27 like 2 Neighboring gene uncharacterized LOC105370634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94639893-94640455 Neighboring gene serpin family A member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94757989-94758488 Neighboring gene serpin family A member 6

    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
    • 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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    Related articles in PubMed

    1. Comparison of ARM and HEAT protein repeats. Andrade MA, et al. J Mol Biol, 2001 May 25. PMID 11491282
    2. The structure of the protein phosphatase 2A PR65/A subunit reveals the conformation of its 15 tandemly repeated HEAT motifs. Groves MR, et al. Cell, 1999 Jan 8. PMID 9989501
    3. Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. Namciu SJ, et al. Mamm Genome, 2004 Mar. PMID 15014966
    4. PP4R4/KIAA1622 forms a novel stable cytosolic complex with phosphoprotein phosphatase 4. Chen GI, et al. J Biol Chem, 2008 Oct 24. PMID 18715871, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Aug 31. PMID 10997877

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1622

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein phosphatase regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine phosphatase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein serine/threonine phosphatase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein serine/threonine phosphatase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein phosphatase 4 regulatory subunit 4
    Names
    HEAT-like repeat-containing protein
    cilia and flagella associated protein 14

    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_001348142.2 → NP_001335071.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL117259, AL121838
      Conserved Domains (1) summary
      sd00044
      Location:54 → 78
      HEAT; HEAT repeat [structural motif]

    2. NM_001348143.2 → NP_001335072.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 5, encodes isoform 4.
      Source sequence(s)
      AL117259, AL121838
      Conserved Domains (1) summary
      sd00044
      Location:28 → 52
      HEAT; HEAT repeat [structural motif]

    3. NM_001348144.2 → NP_001335073.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 4, encodes isoform 4.
      Source sequence(s)
      AL117259, AL121838
      Conserved Domains (1) summary
      sd00044
      Location:28 → 52
      HEAT; HEAT repeat [structural motif]

    4. NM_001348145.2 → NP_001335074.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL117259, AL121838

    5. NM_020958.3 → NP_066009.2  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 2

      See identical proteins and their annotated locations for NP_066009.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1, resulting in a shorter isoform (2) that has a distinct C-terminus lacking HEAT-like repeats.
      Source sequence(s)
      AL117259, BC002650, DB480905
      Consensus CDS
      CCDS9922.1
      UniProtKB/Swiss-Prot
      Q6NUP7
      Related
      ENSP00000330831.3, ENST00000328839.3

    6. NM_058237.2 → NP_478144.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform 1

      See identical proteins and their annotated locations for NP_478144.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB046842, BC068491, DB480905
      Consensus CDS
      CCDS9921.1
      UniProtKB/Swiss-Prot
      Q6NUP7, Q9BUF8, Q9HCF0
      Related
      ENSP00000305924.3, ENST00000304338.8
      Conserved Domains (1) summary
      sd00044
      Location:135 → 159
      HEAT; HEAT repeat [structural motif]

    RNA

    1. NR_145441.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL117259, AL121838

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      94174322..94279734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449672.2 → XP_024305440.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:54 → 78
      HEAT; HEAT repeat [structural motif]

    2. XM_011537039.3 → XP_011535341.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

      See identical proteins and their annotated locations for XP_011535341.1

      Conserved Domains (1) summary
      sd00044
      Location:28 → 52
      HEAT; HEAT repeat [structural motif]

    3. XM_024449673.2 → XP_024305441.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

      Conserved Domains (1) summary
      sd00044
      Location:28 → 52
      HEAT; HEAT repeat [structural motif]

    4. XM_017021528.3 → XP_016877017.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X2

    5. XM_011537040.3 → XP_011535342.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

      See identical proteins and their annotated locations for XP_011535342.1

      Conserved Domains (1) summary
      sd00044
      Location:28 → 52
      HEAT; HEAT repeat [structural motif]

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1288884..1394296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329023.1 → XP_054184998.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X1

    2. XM_054329025.1 → XP_054185000.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    3. XM_054329026.1 → XP_054185001.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    4. XM_054329024.1 → XP_054184999.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X2

    5. XM_054329027.1 → XP_054185002.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88401597..88507017
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376504.1 → XP_054232479.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X1

    2. XM_054376506.1 → XP_054232481.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    3. XM_054376507.1 → XP_054232482.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    4. XM_054376505.1 → XP_054232480.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X2

    5. XM_054376508.1 → XP_054232483.1  serine/threonine-protein phosphatase 4 regulatory subunit 4 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6NUP7.1 GenPept UniProtKB/Swiss-Prot:Q6NUP7

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