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Aliases for P4HTM Gene

Aliases for P4HTM Gene

  • Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum) 2 3
  • PH4 3 4 6
  • Hypoxia Inducible Factor Prolyl 4 Hydroxylase 2 3
  • Hypoxia-Inducible Factor Prolyl Hydroxylase 4 3 4
  • Prolyl Hydroxlase Domain-Containing 4 2 3
  • HIF-Prolyl Hydroxylase 4 3 4
  • HIF-PH4 3 4
  • P4H-TM 3 4
  • HPH-4 3 4
  • Hypoxia-Inducible Factor Prolyl 4-Hydroxylase 3
  • Transmembrane Prolyl 4-Hydroxylase 3
  • P4H With Transmembrane Domain 3
  • Proline 4-Hydroxylase 3
  • EC 1.14.11.- 4
  • HIFPH4 3
  • EGLN4 3
  • PH-4 3
  • PHD4 3

External Ids for P4HTM Gene

Previous GeneCards Identifiers for P4HTM Gene

  • GC03P049004
  • GC03P049027

Summaries for P4HTM Gene

Entrez Gene Summary for P4HTM Gene

  • 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]

GeneCards Summary for P4HTM Gene

P4HTM (Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum)) is a Protein Coding gene. Diseases associated with P4HTM include hypoxia. GO annotations related to this gene include calcium ion binding and L-ascorbic acid binding.

UniProtKB/Swiss-Prot for P4HTM Gene

  • Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at Pro-402 and Pro-564. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for P4HTM Gene

Genomics for P4HTM Gene

Regulatory Elements for P4HTM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for P4HTM Gene

Start:
48,989,871 bp from pter
End:
49,007,154 bp from pter
Size:
17,284 bases
Orientation:
Plus strand

Genomic View for P4HTM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for P4HTM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for P4HTM Gene

Proteins for P4HTM Gene

  • Protein details for P4HTM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXG6-P4HTM_HUMAN
    Recommended name:
    Transmembrane prolyl 4-hydroxylase
    Protein Accession:
    Q9NXG6
    Secondary Accessions:
    • Q6PAG6
    • Q8TCJ9
    • Q8WV55
    • Q96F22
    • Q9BW77

    Protein attributes for P4HTM Gene

    Size:
    502 amino acids
    Molecular mass:
    56661 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Cofactor:
    Name=L-ascorbate; Xref=ChEBI:CHEBI:38290;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH60321.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAA91045.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD28518.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for P4HTM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for P4HTM Gene

Proteomics data for P4HTM Gene at MOPED

Post-translational modifications for P4HTM Gene

Other Protein References for P4HTM Gene

No data available for DME Specific Peptides for P4HTM Gene

Domains for P4HTM Gene

Protein Domains for P4HTM Gene

Suggested Antigen Peptide Sequences for P4HTM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXG6

UniProtKB/Swiss-Prot:

P4HTM_HUMAN :
  • Q9NXG6
Domain:
  • Contains 2 EF-hand domains.
  • Contains 1 Fe2OG dioxygenase domain.
genes like me logo Genes that share domains with P4HTM: view

No data available for Gene Families for P4HTM Gene

Function for P4HTM Gene

Molecular function for P4HTM Gene

UniProtKB/Swiss-Prot CatalyticActivity: An HIF alpha chain L-proline + 2-oxoglutarate + O(2) = An HIF alpha chain trans-4-hydroxy-L-proline + succinate + CO(2)
UniProtKB/Swiss-Prot Function: Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at Pro-402 and Pro-564. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex.
UniProtKB/Swiss-Prot Induction: By hypoxia in many cultured cell lines.

Enzyme Numbers (IUBMB) for P4HTM Gene

Gene Ontology (GO) - Molecular Function for P4HTM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0016491 oxidoreductase activity --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen --
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors IDA 22955912
genes like me logo Genes that share ontologies with P4HTM: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P4HTM

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for P4HTM Gene

Localization for P4HTM Gene

Subcellular locations from UniProtKB/Swiss-Prot for P4HTM Gene

Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for P4HTM Gene COMPARTMENTS Subcellular localization image for P4HTM gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for P4HTM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with P4HTM: view

Pathways for P4HTM Gene

SuperPathways for P4HTM Gene

No Data Available

Interacting Proteins for P4HTM Gene

Gene Ontology (GO) - Biological Process for P4HTM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P4HTM: view

No data available for Pathways by source for P4HTM Gene

Compounds for P4HTM Gene

(3) HMDB Compounds for P4HTM Gene

Compound Synonyms Cas Number PubMed IDs
Ascorbic acid
  • (+)-ascorbate
50-81-7
Hydroxyproline
  • (2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid
51-35-4
L-Proline
  • (-)-(S)-Proline
147-85-3

(1) Drugbank Compounds for P4HTM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Vitamin C
  • Ascorbate
50-81-7 target

(5) Novoseek inferred chemical compound relationships for P4HTM Gene

Compound -log(P) Hits PubMed IDs
oddd 89.2 1
proline 67.9 14
procollagen 56.6 2
hydroxyproline 44.8 1
oxygen 2.55 2
genes like me logo Genes that share compounds with P4HTM: view

Transcripts for P4HTM Gene

Unigene Clusters for P4HTM Gene

Prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for P4HTM

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for P4HTM Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP5:
SP6:

Relevant External Links for P4HTM Gene

GeneLoc Exon Structure for
P4HTM
ECgene alternative splicing isoforms for
P4HTM

Expression for P4HTM Gene

mRNA expression in normal human tissues for P4HTM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for P4HTM Gene

SOURCE GeneReport for Unigene cluster for P4HTM Gene Hs.654944

mRNA Expression by UniProt/SwissProt for P4HTM Gene

Q9NXG6-P4HTM_HUMAN
Tissue specificity: Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain, placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts.
genes like me logo Genes that share expressions with P4HTM: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for P4HTM Gene

Orthologs for P4HTM Gene

This gene was present in the common ancestor of chordates.

Orthologs for P4HTM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia P4HTM 35
  • 99.67 (n)
  • 99.6 (a)
P4HTM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia P4HTM 35
  • 90.49 (n)
  • 92.71 (a)
P4HTM 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia P4HTM 35
  • 91.75 (n)
  • 94.85 (a)
P4HTM 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia P4htm 35
  • 86.32 (n)
  • 91.24 (a)
P4htm 16
P4htm 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia P4HTM 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P4HTM 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4htm 35
  • 86.52 (n)
  • 90.64 (a)
chicken
(Gallus gallus)
Aves P4HTM 35
  • 75.87 (n)
  • 76.52 (a)
P4HTM 36
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia P4HTM 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia p4htm 35
  • 67.23 (n)
  • 67.94 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC799930 35
  • 60.43 (n)
  • 57.49 (a)
P4HTM 36
  • 51 (a)
OneToOne
Species with no ortholog for P4HTM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for P4HTM Gene

ENSEMBL:
Gene Tree for P4HTM (if available)
TreeFam:
Gene Tree for P4HTM (if available)

Paralogs for P4HTM Gene

No data available for Paralogs for P4HTM Gene

Variants for P4HTM Gene

Sequence variations from dbSNP and Humsavar for P4HTM Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs4072859 -- 48,994,772(+) CTCAT(C/G)GCTCT intron-variant
rs4974080 -- 48,993,395(+) AACTA(A/C)TACTC intron-variant
rs6772452 -- 49,003,029(+) GTGAG(A/G)TCTCC intron-variant
rs7434187 -- 48,995,534(+) GAGGA(C/T)TGATT intron-variant
rs9838123 -- 48,994,933(+) cagcc(A/G)gaact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for P4HTM Gene

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294

Relevant External Links for P4HTM Gene

HapMap Linkage Disequilibrium report
P4HTM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for P4HTM Gene

Disorders for P4HTM Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for P4HTM Gene including...

Search for P4HTM Gene in MalaCards »
genes like me logo Genes that share disorders with P4HTM: view

No data available for UniProtKB/Swiss-Prot for P4HTM Gene

Publications for P4HTM Gene

  1. Overexpression of PH-4, a novel putative proline 4-hydroxylase, modulates activity of hypoxia-inducible transcription factors. (PMID: 12163023) Oehme F. … Flamme I. (Biochem. Biophys. Res. Commun. 2002) 2 3 4 23
  2. An endoplasmic reticulum transmembrane prolyl 4-hydroxylase is induced by hypoxia and acts on hypoxia-inducible factor alpha. (PMID: 17726031) Koivunen P. … Myllyharju J. (J. Biol. Chem. 2007) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases. (PMID: 16154531) Hirota K. … Semenza G.L. (Biochem. Biophys. Res. Commun. 2005) 3

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