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Q7Z4N8 (P4HA3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Prolyl 4-hydroxylase subunit alpha-3

Short name=4-PH alpha-3
EC=1.14.11.2
Alternative name(s):
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3
Gene names
Name:P4HA3
ORF Names:UNQ711/PRO1374
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length544 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. Ref.1 Ref.2

Catalytic activity

L-proline-[procollagen] + 2-oxoglutarate + O2 = trans-4-hydroxy-L-proline-[procollagen] + succinate + CO2.

Cofactor

Binds 1 Fe2+ ion per subunit.

Ascorbate.

Subunit structure

Heterotetramer of two alpha-3 chains and two beta chains (the beta chain is the multi-functional PDI). Ref.1 Ref.2

Subcellular location

Endoplasmic reticulum lumen Probable.

Tissue specificity

Highly expressed in placenta, liver and fetal skin. Weakly expressed in fetal epiphyseal cartilage, fetal liver, fibroblast, lung and skeletal muscle. Expressed also in fibrous cap of carotid atherosclerotic lesions. Ref.1 Ref.2

Post-translational modification

N-glycosylation plays no role in the catalytic activity.

Sequence similarities

Belongs to the P4HA family.

Contains 1 Fe2OG dioxygenase domain.

Contains 1 TPR repeat.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7Z4N8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q7Z4N8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     257-257: S → R
     258-544: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q7Z4N8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     490-544: NAALFWWNLH...RRPCSSSPED → HCFGGTCTGV...CYQGTLRMYI
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 544525Prolyl 4-hydroxylase subunit alpha-3
PRO_0000317766

Regions

Repeat227 – 26034TPR
Domain422 – 529108Fe2OG dioxygenase
Coiled coil107 – 13125 Potential

Sites

Metal binding4401Iron By similarity
Metal binding4421Iron By similarity
Metal binding5101Iron By similarity
Binding site52012-oxoglutarate Potential

Amino acid modifications

Glycosylation2421N-linked (GlcNAc...) Potential
Glycosylation4821N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence2571S → R in isoform 2.
VSP_031146
Alternative sequence258 – 544287Missing in isoform 2.
VSP_031147
Alternative sequence490 – 54455NAALF…SSPED → HCFGGTCTGVVKGTVTHFML AVLSWWEISGWPTSGYMSMD RNSADPAAPALKTELLAERS WWSPVAFQRSQEPKAGVGEE KAEQPPGRRPCQLCLCLANQ RQGRGCYQGTLRMYI in isoform 3.
VSP_054131
Natural variant4001D → N. Ref.8
Corresponds to variant rs2282488 [ dbSNP | Ensembl ].
VAR_038675

Experimental info

Sequence conflict2221D → Y in AAH89446. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 1C88C168A268572F

FASTA54461,126
        10         20         30         40         50         60 
MGPGARLAAL LAVLALGTGD PERAAARGDT FSALTSVARA LAPERRLLGL LRRYLRGEEA 

        70         80         90        100        110        120 
RLRDLTRFYD KVLSLHEDST TPVANPLLAF TLIKRLQSDW RNVVHSLEAS ENIRALKDGY 

       130        140        150        160        170        180 
EKVEQDLPAF EDLEGAARAL MRLQDVYMLN VKGLARGVFQ RVTGSAITDL YSPKRLFSLT 

       190        200        210        220        230        240 
GDDCFQVGKV AYDMGDYYHA IPWLEEAVSL FRGSYGEWKT EDEASLEDAL DHLAFAYFRA 

       250        260        270        280        290        300 
GNVSCALSLS REFLLYSPDN KRMARNVLKY ERLLAESPNH VVAEAVIQRP NIPHLQTRDT 

       310        320        330        340        350        360 
YEGLCQTLGS QPTLYQIPSL YCSYETNSNA YLLLQPIRKE VIHLEPYIAL YHDFVSDSEA 

       370        380        390        400        410        420 
QKIRELAEPW LQRSVVASGE KQLQVEYRIS KSAWLKDTVD PKLVTLNHRI AALTGLDVRP 

       430        440        450        460        470        480 
PYAEYLQVVN YGIGGHYEPH FDHATSPSSP LYRMKSGNRV ATFMIYLSSV EAGGATAFIY 

       490        500        510        520        530        540 
ANLSVPVVRN AALFWWNLHR SGEGDSDTLH AGCPVLVGDK WVANKWIHEY GQEFRRPCSS 


SPED 

« Hide

Isoform 2 [UniParc].

Checksum: A610B9B8CF4E4238
Show »

FASTA25728,701
Isoform 3 [UniParc].

Checksum: E2A37A126C60A2A0
Show »

FASTA60467,591

References

« Hide 'large scale' references
[1]"Identification and characterization of a third human, rat, and mouse collagen prolyl 4-hydroxylase isoenzyme."
Kukkola L., Hieta R., Kivirikko K.I., Myllyharju J.
J. Biol. Chem. 278:47685-47693(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, TISSUE SPECIFICITY.
Tissue: Umbilical vein endothelial cell.
[2]"Cloning of a novel prolyl 4-hydroxylase subunit expressed in the fibrous cap of human atherosclerotic plaque."
Van Den Diepstraten C., Papay K., Bolender Z., Brown A., Pickering J.G.
Circulation 108:508-511(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, TISSUE SPECIFICITY.
Tissue: Vascular smooth muscle.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[6]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-400.
Tissue: Colon.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY313448 mRNA. Translation: AAQ87603.1.
AY327887 mRNA. Translation: AAP97874.1.
AY358521 mRNA. Translation: AAQ88885.1.
AK300598 mRNA. Translation: BAG62295.1.
AP000577 Genomic DNA. No translation available.
AP001085 Genomic DNA. No translation available.
AL833965 mRNA. Translation: CAI46215.1.
CH471076 Genomic DNA. Translation: EAW74935.1.
BC089446 mRNA. Translation: AAH89446.1.
BC117333 mRNA. Translation: AAI17334.1.
BC126170 mRNA. Translation: AAI26171.1.
RefSeqNP_878907.1. NM_182904.4.
UniGeneHs.660541.

3D structure databases

ProteinModelPortalQ7Z4N8.
SMRQ7Z4N8. Positions 44-276, 338-528.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129495. 1 interaction.
STRING9606.ENSP00000332170.

PTM databases

PhosphoSiteQ7Z4N8.

Polymorphism databases

DMDM74738714.

Proteomic databases

PaxDbQ7Z4N8.
PRIDEQ7Z4N8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000331597; ENSP00000332170; ENSG00000149380. [Q7Z4N8-1]
ENST00000427714; ENSP00000401749; ENSG00000149380.
ENST00000524388; ENSP00000433860; ENSG00000149380. [Q7Z4N8-2]
GeneID283208.
KEGGhsa:283208.
UCSCuc001ouz.3. human. [Q7Z4N8-1]

Organism-specific databases

CTD283208.
GeneCardsGC11M073947.
HGNCHGNC:30135. P4HA3.
HPAHPA007897.
MIM608987. gene.
neXtProtNX_Q7Z4N8.
PharmGKBPA134870931.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289769.
HOGENOMHOG000230465.
HOVERGENHBG006834.
InParanoidQ7Z4N8.
KOK00472.
OrthoDBEOG7W6WKC.
PhylomeDBQ7Z4N8.
TreeFamTF313393.

Enzyme and pathway databases

BRENDA1.14.11.2. 2681.

Gene expression databases

ArrayExpressQ7Z4N8.
BgeeQ7Z4N8.
CleanExHS_P4HA3.
GenevestigatorQ7Z4N8.

Family and domain databases

Gene3D1.25.40.10. 1 hit.
InterProIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR013547. Pro_4_hyd_alph_N.
IPR011990. TPR-like_helical.
[Graphical view]
PfamPF03171. 2OG-FeII_Oxy. 1 hit.
PF08336. P4Ha_N. 1 hit.
[Graphical view]
SMARTSM00702. P4Hc. 1 hit.
[Graphical view]
PROSITEPS51471. FE2OG_OXY. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSP4HA3. human.
GenomeRNAi283208.
NextBio93714.
PROQ7Z4N8.
SOURCESearch...

Entry information

Entry nameP4HA3_HUMAN
AccessionPrimary (citable) accession number: Q7Z4N8
Secondary accession number(s): A0AV13 expand/collapse secondary AC list , B4DUD3, Q5EBL3, Q5JPA9
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: October 1, 2003
Last modified: April 16, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM