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Aliases for P4HTM Gene

Aliases for P4HTM Gene

  • Prolyl 4-Hydroxylase, Transmembrane (Endoplasmic Reticulum) 2 3
  • 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
  • PH4 3 4
  • Hypoxia-Inducible Factor 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
  • GC03P048991

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 and farber lipogranulomatosis. GO annotations related to this gene include calcium ion binding and iron ion 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

Chromosome:
3
Start:
48,989,100 bp from pter
End:
49,007,154 bp from pter
Size:
18,055 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

Antibody Products

No data available for DME Specific Peptides for P4HTM Gene

Domains & Families 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 :
  • Contains 2 EF-hand domains.
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 --
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

Phenotypes for P4HTM Gene

genes like me logo Genes that share phenotypes 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 Animal Models , miRNA , Transcription Factor Targets 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 3
cytosol 2
lysosome 2
vacuole 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for P4HTM Gene

GO ID Qualified GO term Evidence PubMed IDs
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 & Interactions 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:0045646 regulation of erythrocyte differentiation IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with P4HTM: view

No data available for Pathways by source and SIGNOR curated interactions for P4HTM Gene

Drugs & Compounds for P4HTM Gene

(7) Drugs for P4HTM Gene - From: HMDB, ApexBio, DrugBank, and NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vitamin C Approved Nutra Target 398,398
hydroxyproline Approved, Experimental Pharma 0
L-Proline Approved Nutra 0
Succinic acid Approved Nutra Full agonist, Agonist 0
DMOG Pharma Competitive HIF-PH inhibitor, cell-permeable 0

(4) Additional Compounds for P4HTM Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
Oxoglutaric acid
  • 2-Ketoglutarate
  • 2-Ketoglutaric acid
  • 2-Oxo-1,5-pentanedioate
  • 2-Oxo-1,5-pentanedioic acid
  • 2-Oxoglutarate
328-50-7
ODDD
Procollagen
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

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

Protein differential expression in normal tissues from HIPED for P4HTM Gene

This gene is overexpressed in Testis (37.8) and Retina (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with P4HTM: view

Protein tissue co-expression partners for P4HTM Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia P4HTM 35
  • 99.67 (n)
  • 99.6 (a)
P4HTM 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia P4htm 35
  • 86.52 (n)
  • 90.64 (a)
oppossum
(Monodelphis domestica)
Mammalia P4HTM 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia P4HTM 36
  • 74 (a)
OneToOne
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
rs4974080 -- 48,993,395(+) AACTA(A/C)TACTC intron-variant
rs6772452 -- 49,003,029(+) GTGAG(A/G)TCTCC intron-variant, utr-variant-3-prime
rs11312212 -- 48,993,302(+) AAAAA(-/A)TCTGA intron-variant
rs11713750 -- 49,002,299(+) CGCCT(C/T)TTGAC intron-variant, upstream-variant-2KB
rs12633899 -- 48,989,239(+) TCTTA(A/C)CCAGG upstream-variant-2KB, utr-variant-5-prime, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv876764 CNV Loss 21882294

Variation tolerance for P4HTM Gene

Residual Variation Intolerance Score: 28.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.79% of all genes are more intolerant (likely to be disease-causing)

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

(2) MalaCards diseases for P4HTM Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypoxia
farber lipogranulomatosis
  • acid ceramidase deficiency
- elite association
Search P4HTM in MalaCards View complete list of genes associated with diseases

Relevant External Links for P4HTM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
P4HTM
genes like me logo Genes that share disorders with P4HTM: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 23 67
  2. The biphasic role of the hypoxia-inducible factor prolyl-4-hydroxylase, PHD2, in modulating tumor-forming potential. (PMID: 18505927) Lee K. .A. … LaPres J.J. (Mol. Cancer Res. 2008) 23 67
  3. 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 67
  4. Identification of a region on hypoxia-inducible-factor prolyl 4-hydroxylases that determines their specificity for the oxygen degradation domains. (PMID: 17725546) Villar D. … Del Peso L. (Biochem. J. 2007) 23 67
  5. The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases. (PMID: 16885164) Koivunen P. … Myllyharju J. (J. Biol. Chem. 2006) 23 67

Products for P4HTM Gene

Sources for P4HTM Gene

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