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P4HA1 (prolyl 4-hydroxylase subunit alpha 1)

Identity

Alias (NCBI)P4HA
HGNC (Hugo) P4HA1
HGNC Alias symbC-P4Halpha(I)
HGNC Alias namecollagen prolyl 4-hydroxylase alpha(I)
HGNC Previous nameP4HA
HGNC Previous nameprocollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I
 prolyl 4-hydroxylase, alpha polypeptide I
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



External links

 

Nomenclature
HGNC (Hugo)P4HA1   8546
Cards
Entrez_Gene (NCBI)P4HA1    prolyl 4-hydroxylase subunit alpha 1
AliasesP4HA
GeneCards (Weizmann)P4HA1
Ensembl hg19 (Hinxton)ENSG00000122884 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122884 [Gene_View]  ENSG00000122884 [Sequence]  chr10:73007222-73096974 [Contig_View]  P4HA1 [Vega]
ICGC DataPortalENSG00000122884
TCGA cBioPortalP4HA1
AceView (NCBI)P4HA1
Genatlas (Paris)P4HA1
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)
GoldenPathP4HA1 - 10q22.1 [CytoView hg19]  P4HA1 - 10q22.1 [CytoView hg38]
ImmunoBaseENSG00000122884
Genome Data Viewer NCBIP4HA1 [Mapview hg19]  
OMIM176710   
Gene and transcription
Genbank (Entrez)AA780802 AI061083 AK222960 AK312593 AL702003
RefSeq transcript (Entrez)NM_000917 NM_001017962 NM_001142595 NM_001142596
Consensus coding sequences : CCDS (NCBI)P4HA1
Gene ExpressionP4HA1 [ NCBI-GEO ]   P4HA1 [ EBI - ARRAY_EXPRESS ]   P4HA1 [ SEEK ]   P4HA1 [ MEM ]
Gene Expression Viewer (FireBrowse)P4HA1 [ Firebrowse - Broad ]
GenevisibleExpression of P4HA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5033
GTEX Portal (Tissue expression)P4HA1
Human Protein AtlasENSG00000122884-P4HA1 [pathology]   [cell]   [tissue]
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
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 ]   [ MEROPS ]
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_sf    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
PDB (RSDB)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB Europe1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB (PDBSum)1TJC    2V5F    2YQ8    4BT8    4BT9    4BTA    4BTB   
PDB (IMB)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
AlphaFold pdb e-kbP13674   
Human Protein Atlas [tissue]ENSG00000122884-P4HA1 [tissue]
HPRD08901
Protein Interaction databases
DIP (DOE-UCLA)P13674
IntAct (EBI)P13674
BioGRIDP4HA1
STRING (EMBL)P4HA1
ZODIACP4HA1
Ontologies - Pathways
QuickGOP13674
Ontology : AmiGOprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  membrane  procollagen-proline 4-dioxygenase complex  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  collagen fibril organization  L-ascorbic acid binding  identical protein binding  intracellular membrane-bounded organelle  
Ontology : EGO-EBIprocollagen-proline 4-dioxygenase activity  iron ion binding  protein binding  mitochondrion  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum lumen  membrane  procollagen-proline 4-dioxygenase complex  peptidyl-proline hydroxylation to 4-hydroxy-L-proline  collagen fibril organization  L-ascorbic acid binding  identical protein binding  intracellular membrane-bounded organelle  
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
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]  
Fusion : QuiverP4HA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerP4HA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)P4HA1
dbVarP4HA1
ClinVarP4HA1
MonarchP4HA1
1000_GenomesP4HA1 
Exome Variant ServerP4HA1
GNOMAD BrowserENSG00000122884
Varsome BrowserP4HA1
ACMGP4HA1 variants
VarityP13674
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]  
Somatic Mutations in Cancer : COSMIC3DP4HA1
Mutations and Diseases : HGMDP4HA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaP4HA1
DgiDB (Drug Gene Interaction Database)P4HA1
DoCM (Curated mutations)P4HA1
CIViC (Clinical Interpretations of Variants in Cancer)P4HA1
Cancer3DP4HA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM176710   
Orphanet
DisGeNETP4HA1
MedgenP4HA1
Genetic Testing Registry P4HA1
NextProtP13674 [Medical]
GENETestsP4HA1
Target ValidationP4HA1
Huge Navigator P4HA1 [HugePedia]
ClinGenP4HA1
Clinical trials, drugs, therapy
MyCancerGenomeP4HA1
Protein Interactions : CTDP4HA1
Pharm GKB GenePA32874
PharosP13674
Clinical trialP4HA1
Miscellaneous
canSAR (ICR)P4HA1
HarmonizomeP4HA1
DataMed IndexP4HA1
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXP4HA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:05 CEST 2021

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