P4HA1 Gene
protein-coding GIFtS : 60
GC10M074436
prolyl 4-hydroxylase, alpha polypeptide I (Previous names: procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: P4HA )
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Aliases & Descriptions for P4HA1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases C-P4Halpha(I) 1 , 2 EC 1.14.11.2 3 P4HA 2 , 3 , 5
Descriptions 4-PH alpha-1 3 Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1 3 collagen prolyl 4-hydroxylase alpha(I) 2 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I 1 , 2 prolyl 4-hydroxylase, alpha I subunit 2 prolyl 4-hydroxylase, alpha polypeptide I 2
Search outside databases for aliases for P4HA1 genePrevious GC identifers: GC10M073545 GC10M073870 GC10M074660 GC10M074111
Summaries for P4HA1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for P4HA1 : This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composedof two identical alpha subunits and two beta subunits. The encoded protein is one of severaldifferent types of alpha subunits and provides the major part of the catalytic site of the activeenzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesizedprocollagen chains. Alternatively spliced transcript variants encoding different isoforms havebeen described. [provided by RefSeq] UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674 Function : Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequencesin collagens and other proteins
Gene Wiki entry for P4HA1
Genomic Location for P4HA1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the P4HA1 gene Entrez Gene cytogenetic band: 10q21.3-q23.1 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q21.3-q23.1 P4HA1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M074436:
(about GC identifiers )
Start:
74,436,981 bp from pter
End:
74,526,630 bp from pter
Size:
89,650 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000010.9 NT_008583.16 Proteins for P4HA1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674 (See
protein sequence )Recommended Name: Prolyl 4-hydroxylase subunit alpha-1 precursor Size : 534 amino acids; 61049 Da
Cofactor : Binds 1 Fe(2+) ion per subunit
Cofactor : Ascorbate
Subunit : Heterotetramer of two alpha-1 chains and two beta chains (the beta chain is themulti-functional PDI)
Subcellular location : Endoplasmic reticulum lumen
PDB structures from and Proteopedia : 1TJC (3D)
 
Secondary accessions : Q15082 Q15083 Q5VSQ5Alternative splicing : 2 isoforms : P13674-1 P13674-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (4 alternative transcripts):
NP_000908.2 NP_001017962.1 NP_001136067.1 NP_001136068.1 ENSEMBL proteins: ENSP00000378353 ENSP00000307318 ENSP00000362099 ENSP00000263556 Human Recombinant Proteins                OriGene Purified Recombinant Human Proteins (see all 2 ): P4HA1 3 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for P4HA1: Assays for P4HA1:
Protein
Domains/ Families for P4HA1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P13674 ProtoNet protein and cluster: P13674
2 Blocks protein families : IPB006620 Prolyl 4-hydroxylase IPB013547 Prolyl 4-hydroxylase alpha-subunit UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674 Similarity : Belongs to the P4HA familySimilarity : Contains 1 PKHD (prolyl/lysyl hydroxylase) domainSimilarity : Contains 1 TPR repeat
Gene Function for P4HA1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000917 Applied Biosystems Silencer ® siRNAs for P4HA1 Sigma-Aldrich siRNA and siRNA Panels for P4HA1 Sigma-Aldrich shRNA for P4HA1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000917                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000917                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_000917  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001017962 UniProtKB/Swiss-Prot: P4HA1_HUMAN, P13674 Function : Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequencesin collagens and other proteins Catalytic activity : Procollagen L-proline + 2-oxoglutarate + O(2) = procollagentrans-4-hydroxy-L-proline + succinate + CO(2) Enzyme Number (IUBMB): EC 1.14.11.2
Genatlas biochemistry entry for P4HA1 :procollagen-proline,2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase),alpha polypeptide,isoform1,component of the heterodimer (alpha 1) 2,beta 2,type I,enzyme inhibited by poly (L-proline)
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for P4ha1) :5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
GO ID Qualified GO term Evidence PubMed IDs GO:0004656 procollagen-proline 4-dioxygenase activity
TAS 2543975 GO:0005488 binding
IEA -- GO:0005506 iron ion binding
IEA -- GO:0016491 oxidoreductase activity
IEA -- GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
IEA --
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Pathways & Interactions for P4HA1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for P4HA1 (Your Favorite Gene powered by Ingenuity) 5/14 Interacting proteins for P4HA1 (ENSP00000362099 3 ) via UniProtKB, MINT, and/or STRING (see all 14
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0019538 protein metabolic process
IEA -- GO:0055114 oxidation reduction
IEA --
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Drugs & Compounds for P4HA1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for P4HA1
Transcripts for P4HA1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_000917 Sigma-Aldrich siRNA and siRNA Panels for P4HA1 Sigma-Aldrich shRNA for P4HA1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000917 NM_001017962 NM_001142595 NM_001142596
REFSEQ mRNAs for P4HA1 gene (4 alternative transcripts): NM_000917.3 NM_001017962.2 NM_001142595.1 NM_001142596.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000917 NM_001017962 NM_001142595 NM_001142596
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4 ): NM_000917                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 4 ): NM_000917                                  untagged cDNA clones in CMV expression vector (see all 5 ): NM_000917  
Additional cDNA sequence: AK123653.1 AK222960.1 AK312593.1 BC034998.1 BX648829.1 CR590114.1 M24486.1 M24487.1
17 DOTS entries : DT.101983410 DT.99944438 DT.100793094 DT.452516 DT.91867531 DT.97793771 DT.121301381 DT.100782196 DT.100793096 DT.121301410 DT.121301432 DT.121301453 DT.40226814 DT.97803495 DT.121301418 DT.95171545 DT.92432123
24/230 AceView cDNA sequences (see all 230
):AI128777 BX489858 AI858630 AU121350 AL701971 AL701340 BU743221 BU167243 BM710650 AU279754 BG230763 CD013930 CD013931 AL550156 BP337008 BM930020 CB156311 N88160 AI139319 AA336955 CD013928 AI061083 BQ217818 BM691656
highest scoring ESTs for P4HA1 :M24486 AA279041 AL598620 AL701971 AL702003 AL702270 BQ421908 BX496553 AA083833 AA165549
Unigene Cluster for P4HA1: Prolyl 4-hydroxylase, alpha polypeptide I Hs.500047 [show with all ESTs ] Unigene Representative Sequence: BX648829 GeneLoc Exon Structure 4 Ensembl transcripts including schematic representations : ENST00000394890
ENST00000307116
ENST00000373008
ENST00000263556
Expression for P4HA1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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P4HA1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for P4HA1 1 / 2 / 3
6 probe-sets matching P4HA1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGACATTAGTSOURCE GeneReport for Unigene cluster: Hs.500047 Expression variation in blood from EXPOLDB for P4HA1
Orthologs for P4HA1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for P4HA1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for P4HA1 ENSEMBL Gene Tree for P4HA1 Paralogs for P4HA1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for P4HA1 gene P4HA3 2 P4HA2 2
SNPs/Variants for P4HA1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for P4HA1 (up to first 250kb)
Disorders & Mutations for P4HA1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 176710
Medical News for P4HA1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for P4HA1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/22 PubMed articles for P4HA1 gene (see all 22
):
Search for P4HA1
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing P4HA1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing P4HA1
(According to HUGE )
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--
Specialized Databases showing P4HA1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for P4HA1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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