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

Gene ID: 57718, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (94174322..94279734)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88401597..88507017)
105.20220307 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 (21) 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)

Genotypes

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 regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein phosphatase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in blastocyst hatching IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of phosphoprotein phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of phosphoprotein phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within regulation of protein serine/threonine phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
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_2023_10

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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