Atlas of Genetics and Cytogenetics in Oncology and Haematology


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P4HA1 (prolyl 4-hydroxylase subunit alpha 1)

Identity

Alias_namesP4HA
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
prolyl 4-hydroxylase, alpha polypeptide I
Alias_symbol (synonym)C-P4Halpha(I)
Other alias
HGNC (Hugo) P4HA1
LocusID (NCBI) 5033
Atlas_Id 46330
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 73007222 and ends at 73096974 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
P4HA1 (10q22.1) / CTNNA3 (10q21.3)P4HA1 (10q22.1) / TRIM77 (11q14.3)P4HA1 10q22.1 / CTNNA3 10q21.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)P4HA1   8546
Cards
Entrez_Gene (NCBI)P4HA1  5033  prolyl 4-hydroxylase subunit alpha 1
AliasesP4HA
GeneCards (Weizmann)P4HA1
Ensembl hg19 (Hinxton)ENSG00000122884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122884 [Gene_View]  chr10:73007222-73096974 [Contig_View]  P4HA1 [Vega]
ICGC DataPortalENSG00000122884
TCGA cBioPortalP4HA1
AceView (NCBI)P4HA1
Genatlas (Paris)P4HA1
WikiGenes5033
SOURCE (Princeton)P4HA1
Genetics Home Reference (NIH)P4HA1
Genomic and cartography
GoldenPath hg38 (UCSC)P4HA1  -     chr10:73007222-73096974 -  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)P4HA1  -     10q22.1   [Description]    (hg19-Feb_2009)
EnsemblP4HA1 - 10q22.1 [CytoView hg19]  P4HA1 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIP4HA1 [Mapview hg19]  P4HA1 [Mapview hg38]
OMIM176710   
Gene and transcription
Genbank (Entrez)AA780802 AI061083 AK222960 AK312593 AL702003
RefSeq transcript (Entrez)NM_000917 NM_001017962 NM_001142595 NM_001142596
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)P4HA1
Cluster EST : UnigeneHs.593005 [ NCBI ]
CGAP (NCI)Hs.593005
Alternative Splicing GalleryENSG00000122884
Gene ExpressionP4HA1 [ NCBI-GEO ]   P4HA1 [ EBI - ARRAY_EXPRESS ]   P4HA1 [ SEEK ]   P4HA1 [ MEM ]
Gene Expression Viewer (FireBrowse)P4HA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5033
GTEX Portal (Tissue expression)P4HA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13674   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13674  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13674
Splice isoforms : SwissVarP13674
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 ]   
PhosPhoSitePlusP13674
Domaine pattern : Prosite (Expaxy)FE2OG_OXY (PS51471)    TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)Oxoglu/Fe-dep_dioxygenase    Pro_4_hyd_alph    Pro_4_hyd_alph_N    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
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)P4HA1
DMDM Disease mutations5033
Blocks (Seattle)P4HA1
PDB (SRS)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB (PDBSum)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB (IMB)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB (RSDB)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
Structural Biology KnowledgeBase1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
SCOP (Structural Classification of Proteins)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
CATH (Classification of proteins structures)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
SuperfamilyP13674
Human Protein AtlasENSG00000122884
Peptide AtlasP13674
HPRD08901
IPIIPI00009923   IPI00218682   IPI00916535   
Protein Interaction databases
DIP (DOE-UCLA)P13674
IntAct (EBI)P13674
FunCoupENSG00000122884
BioGRIDP4HA1
STRING (EMBL)P4HA1
ZODIACP4HA1
Ontologies - Pathways
QuickGOP13674
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum lumen  membrane  procollagen-proline 4-dioxygenase complex  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  collagen fibril organization  L-ascorbic acid binding  intracellular membrane-bounded organelle  oxidation-reduction process  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum lumen  membrane  procollagen-proline 4-dioxygenase complex  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  collagen fibril organization  L-ascorbic acid binding  intracellular membrane-bounded organelle  oxidation-reduction process  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkP4HA1
Atlas of Cancer Signalling NetworkP4HA1
Wikipedia pathwaysP4HA1
Orthology - Evolution
OrthoDB5033
GeneTree (enSembl)ENSG00000122884
Phylogenetic Trees/Animal Genes : TreeFamP4HA1
HOVERGENP13674
HOGENOMP13674
Homologs : HomoloGeneP4HA1
Homology/Alignments : Family Browser (UCSC)P4HA1
Gene fusions - Rearrangements
Fusion : MitelmanP4HA1/CTNNA3 [10q22.1/10q21.3]  
Fusion : MitelmanP4HA1/TRIM77 [10q22.1/11q14.3]  [t(10;11)(q22;q14)]  
Fusion: TCGAP4HA1 10q22.1 CTNNA3 10q21.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HA1
dbVarP4HA1
ClinVarP4HA1
1000_GenomesP4HA1 
Exome Variant ServerP4HA1
ExAC (Exome Aggregation Consortium)P4HA1 (select the gene name)
Genetic variants : HAPMAP5033
Genomic Variants (DGV)P4HA1 [DGVbeta]
DECIPHERP4HA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisP4HA1 
Mutations
ICGC Data PortalP4HA1 
TCGA Data PortalP4HA1 
Broad Tumor PortalP4HA1
OASIS PortalP4HA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICP4HA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDP4HA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch P4HA1
DgiDB (Drug Gene Interaction Database)P4HA1
DoCM (Curated mutations)P4HA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)P4HA1 (select a term)
intoGenP4HA1
Cancer3DP4HA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176710   
Orphanet
MedgenP4HA1
Genetic Testing Registry P4HA1
NextProtP13674 [Medical]
TSGene5033
GENETestsP4HA1
Target ValidationP4HA1
Huge Navigator P4HA1 [HugePedia]
snp3D : Map Gene to Disease5033
BioCentury BCIQP4HA1
ClinGenP4HA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5033
Chemical/Pharm GKB GenePA32874
Clinical trialP4HA1
Miscellaneous
canSAR (ICR)P4HA1 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineP4HA1
EVEXP4HA1
GoPubMedP4HA1
iHOPP4HA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:48:16 CEST 2017

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