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    P4HA3 prolyl 4-hydroxylase subunit alpha 3 [ Homo sapiens (human) ]

    Gene ID: 283208, updated on 18-Sep-2024

    Summary

    Official Symbol
    P4HA3provided by HGNC
    Official Full Name
    prolyl 4-hydroxylase subunit alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:30135
    See related
    Ensembl:ENSG00000149380 MIM:608987; AllianceGenome:HGNC:30135
    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
    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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in urinary bladder (RPKM 3.9), gall bladder (RPKM 3.2) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See P4HA3 in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (74250146..74311640, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (74189267..74240983, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73977702..74022685, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase methylesterase 1 Neighboring gene RNA, 5S ribosomal pseudogene 343 Neighboring gene uncharacterized LOC105369383 Neighboring gene Sharpr-MPRA regulatory region 15540 Neighboring gene small nucleolar RNA SNORA7 Neighboring gene P4HA3 antisense RNA 1 Neighboring gene uncharacterized LOC112268078 Neighboring gene phosphoglucomutase 2 like 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107127-74107628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:74107629-74108128 Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:74109220-74109841 and GRCh37_chr11:74109842-74110462 Neighboring gene microRNA 548al

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 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 lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    prolyl 4-hydroxylase subunit alpha-3
    Names
    4-PH alpha-3
    C-P4H alpha III
    collagen prolyl 4-hydroxylase alpha(III)
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III
    prolyl 4-hydroxylase, alpha polypeptide III
    NP_001275677.1
    NP_878907.1
    XP_047282758.1
    XP_054224454.1

    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_001288748.2NP_001275677.1  prolyl 4-hydroxylase subunit alpha-3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001275677.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK300598, HY188166
      Consensus CDS
      CCDS73347.1
      UniProtKB/Swiss-Prot
      Q7Z4N8
      Related
      ENSP00000401749.2, ENST00000427714.2
      Conserved Domains (3) summary
      smart00702
      Location:356478
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:58159
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
      pfam13424
      Location:186252
      TPR_12; Tetratricopeptide repeat
    2. NM_182904.5NP_878907.1  prolyl 4-hydroxylase subunit alpha-3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_878907.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AY358521, HY004548
      Consensus CDS
      CCDS8230.1
      UniProtKB/Swiss-Prot
      A0AV13, B4DUD3, Q5EBL3, Q5JPA9, Q7Z4N8
      Related
      ENSP00000332170.4, ENST00000331597.9
      Conserved Domains (2) summary
      smart00702
      Location:356528
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:58159
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    RNA

    1. NR_110031.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon and uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AY358521, BC040582, HY004548
      Related
      ENST00000525968.1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      74250146..74311640 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426802.1XP_047282758.1  prolyl 4-hydroxylase subunit alpha-3 isoform X1

    RNA

    1. XR_007062475.1 RNA Sequence

    2. XR_001747837.2 RNA Sequence

    3. XR_001747838.2 RNA Sequence

    4. XR_001747836.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      74189267..74240983 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368479.1XP_054224454.1  prolyl 4-hydroxylase subunit alpha-3 isoform X1

    RNA

    1. XR_008488384.1 RNA Sequence

    2. XR_008488385.1 RNA Sequence

    3. XR_008488383.1 RNA Sequence