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UniProtKB/Swiss-Prot entry P13674


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name P4HA1_HUMAN
Primary accession number P13674
Secondary accession numbers Q15082 Q15083 Q5VSQ5
Integrated into Swiss-Prot on January 1, 1990
Sequence was last modified on November 1, 1997 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 103)
Name and origin of the protein
Protein name Prolyl 4-hydroxylase subunit alpha-1 [Precursor]
Synonyms EC 1.14.11.2
4-PH alpha-1
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-1
Gene name
Name: P4HA1
Synonyms: P4HA
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
PubMed=2543975 [NCBI, ExPASy, EBI, Israel, Japan]
Helaakoski T., Vuori K., Myllylae R., Kivirikko K.I., Pihlajaniemi T.;
"Molecular cloning of the alpha-subunit of human prolyl 4-hydroxylase: the complete cDNA-derived amino acid sequence and evidence for alternative splicing of RNA transcripts.";
Proc. Natl. Acad. Sci. U.S.A. 86:4392-4396(1989).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING.
PubMed=7961714 [NCBI, ExPASy, EBI, Israel, Japan]
Helaakoski T., Veijola J., Vuori K., Rehn M., Chow L.T., Taillon-Miller P., Kivirikko K.I., Pihlajaniemi T.;
"Structure and expression of the human gene for the alpha subunit of prolyl 4-hydroxylase. The two alternatively spliced types of mRNA correspond to two homologous exons the sequences of which are expressed in a variety of tissues.";
J. Biol. Chem. 269:27847-27854(1994).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
M24486; AAA36534.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
M24487; AAA36535.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14620; AAA59068.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14607; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14605; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14608; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14609; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14611; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14610; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14612; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14614; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14615; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14616; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14617; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14618; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14619; AAA59068.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14620; AAA59069.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14607; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14605; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14608; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14609; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14611; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14610; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14612; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14613; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14615; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14616; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14617; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14618; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U14619; AAA59069.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL731563; CAH72754.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC034998; AAH34998.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR A33919; DAHUA1.
I37173; DAHUA2.
RefSeq NP_000908.2; -.
NP_001017962.1; -.
UniGene Hs.500047
3D structure databases
PDB
1TJC; X-ray; 2.30 A; A/B=161-261.[ExPASy / RCSB / EBI]
PDBsum 1TJC; -.
ModBase P13674.
Protein-protein interaction databases
IntAct P13674; -.
Organism-specific databases
H-InvDB HIX0025926; -.
HGNC HGNC:8546; P4HA1.
GenAtlas P4HA1.
HPA HPA007599; -.
MIM 176710; gene. [NCBI / EBI]
PharmGKB PA32874; -.
GeneCards P13674.
Gene expression databases
ArrayExpress P13674; -.
CleanEx HS_P4HA1; -.
GermOnline ENSG00000122884; Homo sapiens.
Ontologies
GO
GO:0005783; Cellular component: endoplasmic reticulum (traceable author statement from ProtInc).
GO:0004656; Molecular function: procollagen-proline 4-dioxygenase activity (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR005123; 2OG-FeII_Oase.
IPR006620; Pro_4_hyd_alph.
IPR013547; Pro_4_hyd_alph_N.
IPR011990; TPR-like_helical.
IPR013105; TPR_2.
IPR013026; TPR_region.
Graphical view of domain structure.
Gene3D G3DSA:1.25.40.10; TPR-like_helical; 1.
Pfam PF03171; 2OG-FeII_Oxy; 1.
PF08336; P4Ha_N; 1.
PF07719; TPR_2; 1.
Pfam graphical view of domain structure.
SMART SM00702; P4Hc; 1.
SMART graphical view of domain structure.
PROSITE PS50005; TPR; 1.
PS50293; TPR_REGION; 1.
PROSITE graphical view of domain structure (profiles).
BLOCKS P13674.
Genome annotation databases
Ensembl ENSG00000122884; Homo sapiens. [Contig view]
GeneID 5033; -.
KEGG hsa:5033; -.
Phylogenomic databases
HOVERGEN P13674; -.
Other
DrugBank DB01275; Hydralazine.
DB00172; L-Proline.
DB00139; Succinic acid.
DB00126; Vitamin C.
LinkHub P13674; -.
SOURCE P4HA1; Homo sapiens.
ProtoNet P13674.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; Dioxygenase; Endoplasmic reticulum; Glycoprotein; Iron; Metal-binding; Oxidoreductase; Signal; TPR repeat; Vitamin C.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
SIGNAL   1    17  17      
CHAIN   18   534  517     Prolyl 4-hydroxylase subunit alpha-1. PRO_0000022723
REPEAT   205   238  34     TPR. 
DOMAIN   335   518  184     PKHD. 
ACT_SITE   510   510        Potential. 
METAL   429   429        Iron (By similarity). 
METAL   431   431        Iron (By similarity). 
METAL   500   500        Iron (By similarity). 
CARBOHYD   113   113        N-linked (GlcNAc...). 
CARBOHYD   259   259        N-linked (GlcNAc...). 
VAR_SEQ   361   380        RRATISNPITGDLETVHYRI -> SRATVHDPETGKLTTAQYRV (in isoform 2). VSP_004504
CONFLICT   119   122        QYFP -> PVLS (in Ref. 1; AAA36534/AAA36535). 
HELIX   164   176  13      
HELIX   180   195  16      
HELIX   204   217  14      
HELIX   221   234  14      
HELIX   239   253  15      
Sequence information
Length: 534 AA [This is the length of the unprocessed precursor] Molecular weight: 61049 Da [This is the MW of the unprocessed precursor] CRC64: EBAFA8CCF09A1DDB [This is a checksum on the sequence]
        10         20         30         40         50         60 
MIWYILIIGI LLPQSLAHPG FFTSIGQMTD LIHTEKDLVT SLKDYIKAEE DKLEQIKKWA 

        70         80         90        100        110        120 
EKLDRLTSTA TKDPEGFVGH PVNAFKLMKR LNTEWSELEN LVLKDMSDGF ISNLTIQRQY 

       130        140        150        160        170        180 
FPNDEDQVGA AKALLRLQDT YNLDTDTISK GNLPGVKHKS FLTAEDCFEL GKVAYTEADY 

       190        200        210        220        230        240 
YHTELWMEQA LRQLDEGEIS TIDKVSVLDY LSYAVYQQGD LDKALLLTKK LLELDPEHQR 

       250        260        270        280        290        300 
ANGNLKYFEY IMAKEKDVNK SASDDQSDQK TTPKKKGVAV DYLPERQKYE MLCRGEGIKM 

       310        320        330        340        350        360 
TPRRQKKLFC RYHDGNRNPK FILAPAKQED EWDKPRIIRF HDIISDAEIE IVKDLAKPRL 

       370        380        390        400        410        420 
RRATISNPIT GDLETVHYRI SKSAWLSGYE NPVVSRINMR IQDLTGLDVS TAEELQVANY 

       430        440        450        460        470        480 
GVGGQYEPHF DFARKDEPDA FKELGTGNRI ATWLFYMSDV SAGGATVFPE VGASVWPKKG 

       490        500        510        520        530 
TAVFWYNLFA SGEGDYSTRH AACPVLVGNK WVSNKWLHER GQEFRRPCTL SELE 

P13674 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
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