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    P4HA1 prolyl 4-hydroxylase subunit alpha 1 [ Homo sapiens (human) ]

    Gene ID: 5033, updated on 9-Dec-2024

    Summary

    Official Symbol
    P4HA1provided by HGNC
    Official Full Name
    prolyl 4-hydroxylase subunit alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:8546
    See related
    Ensembl:ENSG00000122884 MIM:176710; AllianceGenome:HGNC:8546
    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
    P4HA
    Summary
    This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 35.1), liver (RPKM 30.4) and 24 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See P4HA1 in Genome Data Viewer
    Location:
    10q22.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73007217..73096866, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (73878593..73968258, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74766975..74856624, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902451 Neighboring gene phospholipase A2 group XIIB Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74741016-74741516 Neighboring gene ribosomal protein L17 pseudogene 50 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:74778077-74778636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3554 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:74856005-74856760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3555 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:74866945-74867185 Neighboring gene nudix hydrolase 13 Neighboring gene small nucleolar RNA, H/ACA box 11F Neighboring gene uncharacterized LOC124902452 Neighboring gene ecdysoneless cell cycle regulator

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with P4HA1; predicted interaction to be within the endoplasmic reticulum PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: ECD

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables procollagen-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables procollagen-proline 4-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in collagen fibril organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    part_of procollagen-proline 4-dioxygenase complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    prolyl 4-hydroxylase subunit alpha-1
    Names
    C-P4Halpha(I)
    collagen prolyl 4-hydroxylase alpha(I)
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
    procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1
    prolyl 4-hydroxylase, alpha polypeptide I
    NP_000908.2
    NP_001017962.1
    NP_001136067.1
    NP_001136068.1

    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_000917.4NP_000908.2  prolyl 4-hydroxylase subunit alpha-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000908.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI061083, AK312593, CD013930, DB030709
      Consensus CDS
      CCDS7320.1
      UniProtKB/TrEMBL
      Q5VSQ6
      Related
      ENSP00000263556.3, ENST00000263556.3
      Conserved Domains (2) summary
      smart00702
      Location:345518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    2. NM_001017962.3NP_001017962.1  prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001017962.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon, compared to variant 1. It encodes isoform 2, which is the same length as isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AI061083, BC034998, DB030709
      Consensus CDS
      CCDS41537.1
      UniProtKB/Swiss-Prot
      C9JL12, P13674, Q15082, Q15083, Q5VSQ5
      Related
      ENSP00000378353.2, ENST00000394890.7
      Conserved Domains (2) summary
      smart00702
      Location:345518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    3. NM_001142595.2NP_001136067.1  prolyl 4-hydroxylase subunit alpha-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001136067.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame exon, compared to variant 1. It encodes isoform 2, which is the same length as isoform 1. Variants 2 and 3 both encode isoform 2.
      Source sequence(s)
      AI061083, CD013930, DB030709
      Consensus CDS
      CCDS41537.1
      UniProtKB/Swiss-Prot
      C9JL12, P13674, Q15082, Q15083, Q5VSQ5
      Conserved Domains (2) summary
      smart00702
      Location:345518
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:25112
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    4. NM_001142596.2NP_001136068.1  prolyl 4-hydroxylase subunit alpha-1 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AI061083, CD013929, DB030709
      Consensus CDS
      CCDS44432.1
      UniProtKB/Swiss-Prot
      P13674
      Related
      ENSP00000414464.1, ENST00000440381.5
      Conserved Domains (2) summary
      smart00702
      Location:345500
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:24153
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73007217..73096866 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      73878593..73968258 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)