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P4HTM prolyl 4-hydroxylase, transmembrane [ Homo sapiens (human) ]

Gene ID: 54681, updated on 12-Oct-2019

Summary

Official Symbol
P4HTMprovided by HGNC
Official Full Name
prolyl 4-hydroxylase, transmembraneprovided by HGNC
Primary source
HGNC:HGNC:28858
See related
Ensembl:ENSG00000178467 MIM:614584
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
PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM
Summary
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 16.9), adrenal (RPKM 14.4) and 25 other tissues See more
Orthologs

Genomic context

See P4HTM in Genome Data Viewer
Location:
3p21.31; 3p21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48989908..49007153)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49027304..49044582)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 20 Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 opposite strand Neighboring gene ariadne RBR E3 ubiquitin protein ligase 2 Neighboring gene WD repeat domain 6 Neighboring gene DALR anticodon binding domain containing 3 Neighboring gene microRNA 425

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef nef The yeast two-hybrid screen and the coimmunoprecipitation analysis identify the HIV-1 Nef interacting human protein prolyl 4-hydroxylase (PH4) in cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
regulation of erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane prolyl 4-hydroxylase
Names
HIF-PH4
HIF-prolyl hydroxylase 4
HPH-4
P4H with transmembrane domain
Prolyl hydroxlase domain-containing 4
hypoxia-inducible factor prolyl 4-hydroxylase
hypoxia-inducible factor prolyl hydroxylase 4
proline 4-hydroxylase
prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)
NP_808807.2
NP_808808.1

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_177938.2NP_808807.2  transmembrane prolyl 4-hydroxylase isoform c

    See identical proteins and their annotated locations for NP_808807.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains two additional segments in the coding region, compared to variant 1. The resulting isoform (c) is longer, compared to isoform a.
    Source sequence(s)
    AW072069, BC000580, BC011710, BC047566
    Consensus CDS
    CCDS2781.2
    UniProtKB/Swiss-Prot
    Q9NXG6
    Related
    ENSP00000341422.4, ENST00000343546.8
    Conserved Domains (3) summary
    smart00702
    Location:246519
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    cd00051
    Location:194252
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:192252
    EF-hand_7; EF-hand domain pair
  2. NM_177939.3NP_808808.1  transmembrane prolyl 4-hydroxylase isoform a

    See identical proteins and their annotated locations for NP_808808.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript.
    Source sequence(s)
    AC137630, AW072069, BC000580, BC011710, BC047566
    Consensus CDS
    CCDS43089.1
    UniProtKB/Swiss-Prot
    Q9NXG6
    Related
    ENSP00000373235.4, ENST00000383729.9
    Conserved Domains (3) summary
    smart00702
    Location:246458
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    cd00051
    Location:194252
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:192252
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48989908..49007153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_017732.3: Suppressed sequence

    Description
    NM_017732.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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