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

    Gene ID: 283208, updated on 2-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. P4HA3 promotes clear cell renal cell carcinoma progression via the PI3K/AKT/GSK3beta pathway.
      Title: P4HA3 promotes clear cell renal cell carcinoma progression via the PI3K/AKT/GSK3β pathway.
    2. miR-1266-3p Suppresses Epithelial-Mesenchymal Transition in Colon Cancer by Targeting P4HA3.
      Title: miR-1266-3p Suppresses Epithelial-Mesenchymal Transition in Colon Cancer by Targeting P4HA3.
    3. Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit alpha members in breast cancer.
      Title: Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit α members in breast cancer.
    4. Prolyl 4-hydroxylase subunit alpha 3 facilitates human colon cancer growth and metastasis through the TGF-beta/Smad signaling pathway.
      Title: Prolyl 4-hydroxylase subunit alpha 3 facilitates human colon cancer growth and metastasis through the TGF-β/Smad signaling pathway.
    5. Age-associated genes in human mammary gland drive human breast cancer progression.
      Title: Age-associated genes in human mammary gland drive human breast cancer progression.
    6. Prolyl 4-hydroxylase subunit alpha 3 presents a cancer promotive function in head and neck squamous cell carcinoma via regulating epithelial-mesenchymal transition.
      Title: Prolyl 4-hydroxylase subunit alpha 3 presents a cancer promotive function in head and neck squamous cell carcinoma via regulating epithelial-mesenchymal transition.
    7. Based on findings above, we infer that P4HA3 is epigenetically activated by Slug, and its deregulation is associated with enhanced metastasis and poor survival of gastric cancer.
      Title: P4HA3 is Epigenetically Activated by Slug in Gastric Cancer and its Deregulation is Associated With Enhanced Metastasis and Poor Survival.
    8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    9. HIF-P4H, HIF-1alpha and HIF-2alpha are effective oxygen sensors
      Title: The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases.
    10. analysis of collagen prolyl 4-hydroxylase isoenzyme 3, its expression and catalytic properties
      Title: Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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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    Homology

    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

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    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)

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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_001288748.2 → NP_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:356 → 478
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:58 → 159
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
      pfam13424
      Location:186 → 252
      TPR_12; Tetratricopeptide repeat

    2. NM_182904.5 → NP_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:356 → 528
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:58 → 159
      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_047426802.1 → XP_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_054368479.1 → XP_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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4N8.1 GenPept UniProtKB/Swiss-Prot:Q7Z4N8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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