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

Gene ID: 283208, updated on 27-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
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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
  • 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. P4HA3 promotes clear cell renal cell carcinoma progression via the PI3K/AKT/GSK3β pathway. Zhang Z, et al. Med Oncol, 2023 Jan 2. PMID 36588128
  2. Prolyl 4-hydroxylase subunit alpha 3 facilitates human colon cancer growth and metastasis through the TGF-β/Smad signaling pathway. Zhou H, et al. Pathol Res Pract, 2022 Feb. PMID 34959098
  3. Prolyl 4-hydroxylase subunit alpha 3 presents a cancer promotive function in head and neck squamous cell carcinoma via regulating epithelial-mesenchymal transition. Wang T, et al. Arch Oral Biol, 2020 May. PMID 32220804
  4. Cloning of a novel prolyl 4-hydroxylase subunit expressed in the fibrous cap of human atherosclerotic plaque. Van Den Diepstraten C, et al. Circulation, 2003 Aug 5. PMID 12874193
  5. miR-1266-3p Suppresses Epithelial-Mesenchymal Transition in Colon Cancer by Targeting P4HA3. Zhou H, et al. Anal Cell Pathol (Amst), 2022. PMID 35433237, Free PMC Article

See all (25) citations in PubMed

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

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