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

Gene ID: 283208, updated on 18-Aug-2020

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
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

Genomic context

See P4HA3 in Genome Data Viewer
Location:
11q13.4
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (74259923..74311654, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73958532..74022699, 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 P4HA3 antisense RNA 1 Neighboring gene uncharacterized LOC112268078 Neighboring gene phosphoglucomutase 2 like 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 40 Neighboring gene microRNA 548al

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
Inferred from Electronic Annotation
more info
 
contributes_to procollagen-proline 4-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    74259923..74311654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001747837.1 RNA Sequence

  2. XR_001747840.1 RNA Sequence

  3. XR_001747838.1 RNA Sequence

  4. XR_001747836.1 RNA Sequence

  5. XR_001747839.1 RNA Sequence

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