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P4HA3 (prolyl 4-hydroxylase subunit alpha 3)

Identity

Alias_namesprocollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III
prolyl 4-hydroxylase, alpha polypeptide III
Alias_symbol (synonym)C-P4Halpha(III)
Other alias-
HGNC (Hugo) P4HA3
LocusID (NCBI) 283208
Atlas_Id 71610
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 74266649 and ends at 74311676 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ASAP1 (8q24.21) / P4HA3 (11q13.4)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)P4HA3   30135
Cards
Entrez_Gene (NCBI)P4HA3  283208  prolyl 4-hydroxylase subunit alpha 3
Aliases
GeneCards (Weizmann)P4HA3
Ensembl hg19 (Hinxton)ENSG00000149380 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149380 [Gene_View]  chr11:74266649-74311676 [Contig_View]  P4HA3 [Vega]
ICGC DataPortalENSG00000149380
TCGA cBioPortalP4HA3
AceView (NCBI)P4HA3
Genatlas (Paris)P4HA3
WikiGenes283208
SOURCE (Princeton)P4HA3
Genetics Home Reference (NIH)P4HA3
Genomic and cartography
GoldenPath hg38 (UCSC)P4HA3  -     chr11:74266649-74311676 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P4HA3  -     11q13.4   [Description]    (hg19-Feb_2009)
EnsemblP4HA3 - 11q13.4 [CytoView hg19]  P4HA3 - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIP4HA3 [Mapview hg19]  P4HA3 [Mapview hg38]
OMIM608987   
Gene and transcription
Genbank (Entrez)AK300598 AL833965 AY313448 AY327887 AY358521
RefSeq transcript (Entrez)NM_001288748 NM_182904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P4HA3
Cluster EST : UnigeneHs.660541 [ NCBI ]
CGAP (NCI)Hs.660541
Alternative Splicing GalleryENSG00000149380
Gene ExpressionP4HA3 [ NCBI-GEO ]   P4HA3 [ EBI - ARRAY_EXPRESS ]   P4HA3 [ SEEK ]   P4HA3 [ MEM ]
Gene Expression Viewer (FireBrowse)P4HA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)283208
GTEX Portal (Tissue expression)P4HA3
Human Protein AtlasENSG00000149380-P4HA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z4N8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z4N8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z4N8
Splice isoforms : SwissVarQ7Z4N8
Catalytic activity : Enzyme1.14.11.2 [ Enzyme-Expasy ]   1.14.11.21.14.11.2 [ IntEnz-EBI ]   1.14.11.2 [ BRENDA ]   1.14.11.2 [ KEGG ]   
PhosPhoSitePlusQ7Z4N8
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    Pro_4_hyd_alph_N    TPR-like_helical_dom   
Domain families : Pfam (Sanger)2OG-FeII_Oxy_3 (PF13640)    P4Ha_N (PF08336)   
Domain families : Pfam (NCBI)pfam13640    pfam08336   
Domain families : Smart (EMBL)P4Hc (SM00702)  
Conserved Domain (NCBI)P4HA3
DMDM Disease mutations283208
Blocks (Seattle)P4HA3
SuperfamilyQ7Z4N8
Human Protein Atlas [tissue]ENSG00000149380-P4HA3 [tissue]
Peptide AtlasQ7Z4N8
HPRD16413
IPIIPI00337414   IPI00885158   IPI00978379   IPI00976683   IPI00908609   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z4N8
IntAct (EBI)Q7Z4N8
FunCoupENSG00000149380
BioGRIDP4HA3
STRING (EMBL)P4HA3
ZODIACP4HA3
Ontologies - Pathways
QuickGOQ7Z4N8
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  endoplasmic reticulum lumen  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation  L-ascorbic acid binding  oxidation-reduction process  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  endoplasmic reticulum lumen  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation  L-ascorbic acid binding  oxidation-reduction process  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkP4HA3
Atlas of Cancer Signalling NetworkP4HA3
Wikipedia pathwaysP4HA3
Orthology - Evolution
OrthoDB283208
GeneTree (enSembl)ENSG00000149380
Phylogenetic Trees/Animal Genes : TreeFamP4HA3
HOVERGENQ7Z4N8
HOGENOMQ7Z4N8
Homologs : HomoloGeneP4HA3
Homology/Alignments : Family Browser (UCSC)P4HA3
Gene fusions - Rearrangements
Tumor Fusion PortalP4HA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HA3
dbVarP4HA3
ClinVarP4HA3
1000_GenomesP4HA3 
Exome Variant ServerP4HA3
ExAC (Exome Aggregation Consortium)ENSG00000149380
GNOMAD BrowserENSG00000149380
Genetic variants : HAPMAP283208
Genomic Variants (DGV)P4HA3 [DGVbeta]
DECIPHERP4HA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP4HA3 
Mutations
ICGC Data PortalP4HA3 
TCGA Data PortalP4HA3 
Broad Tumor PortalP4HA3
OASIS PortalP4HA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP4HA3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P4HA3
DgiDB (Drug Gene Interaction Database)P4HA3
DoCM (Curated mutations)P4HA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P4HA3 (select a term)
intoGenP4HA3
Cancer3DP4HA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608987   
Orphanet
DisGeNETP4HA3
MedgenP4HA3
Genetic Testing Registry P4HA3
NextProtQ7Z4N8 [Medical]
TSGene283208
GENETestsP4HA3
Target ValidationP4HA3
Huge Navigator P4HA3 [HugePedia]
snp3D : Map Gene to Disease283208
BioCentury BCIQP4HA3
ClinGenP4HA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD283208
Chemical/Pharm GKB GenePA134870931
Clinical trialP4HA3
Miscellaneous
canSAR (ICR)P4HA3 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP4HA3
EVEXP4HA3
GoPubMedP4HA3
iHOPP4HA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Nov 21 13:24:58 CET 2017

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