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    PHPT1 phosphohistidine phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 29085, updated on 18-Sep-2024

    Summary

    Official Symbol
    PHPT1provided by HGNC
    Official Full Name
    phosphohistidine phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:30033
    See related
    Ensembl:ENSG00000054148 MIM:610167; AllianceGenome:HGNC:30033
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PHP; PHP14; CGI-202; HSPC141; HEL-S-132P
    Summary
    This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in heart (RPKM 26.6), prostate (RPKM 24.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PHPT1 in Genome Data Viewer
    Location:
    9q34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (136849409..136851024)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (149083591..149085206)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139743861..139745476)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RAB, member RAS oncogene family like 6 Neighboring gene microRNA 4292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139732768-139733649 Neighboring gene Sharpr-MPRA regulatory region 5679 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:139736293-139737174 and GRCh37_chr9:139737175-139738055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139738056-139738936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20551 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20552 Neighboring gene apical junction component 1 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20554 Neighboring gene MAM domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:139752096-139752733 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20556 Neighboring gene endothelial differentiation related factor 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: MAMDC4

    Clone Names

    • bA216L13.10, DKFZp564M173, 1700008C22Rik, RP11-216L13.10

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein histidine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein histidine phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein histidine phosphatase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transmembrane transporter binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in leading edge of lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    14 kDa phosphohistidine phosphatase
    Names
    epididymis secretory sperm binding protein Li 132P
    protein histidine phosphatase
    protein janus-A homolog
    sex-regulated protein janus-a
    NP_001129333.1
    NP_001274271.1
    NP_001274272.1
    NP_054891.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001135861.3NP_001129333.1  14 kDa phosphohistidine phosphatase isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL355987
      Consensus CDS
      CCDS48060.1
      UniProtKB/Swiss-Prot
      Q9NRX4
      Related
      ENSP00000360724.1, ENST00000371661.5
      Conserved Domains (1) summary
      pfam05005
      Location:995
      Ocnus; Janus/Ocnus family (Ocnus)
    2. NM_001287342.2NP_001274271.1  14 kDa phosphohistidine phosphatase isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL355987
      UniProtKB/TrEMBL
      Q6FIE5
      Conserved Domains (1) summary
      pfam05005
      Location:6119
      Ocnus; Janus/Ocnus family (Ocnus)
    3. NM_001287343.2NP_001274272.1  14 kDa phosphohistidine phosphatase isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL355987
      Related
      ENST00000462205.5
      Conserved Domains (1) summary
      pfam05005
      Location:696
      Ocnus; Janus/Ocnus family (Ocnus)
    4. NM_014172.6NP_054891.2  14 kDa phosphohistidine phosphatase isoform 3

      See identical proteins and their annotated locations for NP_054891.2

      Status: VALIDATED

      Source sequence(s)
      AL355987
      Consensus CDS
      CCDS7009.1
      UniProtKB/Swiss-Prot
      B1AMX0, B1AMX1, Q9H0Y3, Q9NRX4
      UniProtKB/TrEMBL
      Q6FIE5, V9HWC4
      Related
      ENSP00000247665.10, ENST00000247665.12
      Conserved Domains (1) summary
      pfam05005
      Location:9114
      Ocnus; Janus/Ocnus family (Ocnus)

    RNA

    1. NR_109807.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355987
    2. NR_109808.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355987

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      136849409..136851024
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      149083591..149085206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001135860.1: Suppressed sequence

      Description
      NM_001135860.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.