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

Gene ID: 5033, updated on 13-Jan-2019

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
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

Genomic context

See P4HA1 in Genome Data Viewer
Location:
10q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (73007217..73096974, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (74766975..74856732, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene phospholipase A2 group XIIB Neighboring gene ribosomal protein L17 pseudogene 50 Neighboring gene nudix hydrolase 13 Neighboring gene small nucleolar RNA, H/ACA box 11F Neighboring gene ecdysoneless cell cycle regulator Neighboring gene family with sequence similarity 149 member B1

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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ECD

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
collagen fibril organization IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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)

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_000917.3NP_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/Swiss-Prot
    P13674
    UniProtKB/TrEMBL
    Q5VSQ6
    Related
    ENSP00000263556.3, ENST00000263556.3
    Conserved Domains (2) summary
    smart00702
    Location:345518
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
  2. NM_001017962.2NP_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
    P13674
    Related
    ENSP00000378353.2, ENST00000394890.6
    Conserved Domains (2) summary
    smart00702
    Location:345518
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
  3. NM_001142595.1NP_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
    P13674
    Conserved Domains (2) summary
    smart00702
    Location:345518
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    pfam08336
    Location:24153
    P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
  4. NM_001142596.1NP_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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    73007217..73096974 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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