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Q7Z4N8

- P4HA3_HUMAN

UniProt

Q7Z4N8 - P4HA3_HUMAN

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Protein

Prolyl 4-hydroxylase subunit alpha-3

Gene

P4HA3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

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

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi440 – 4401IronPROSITE-ProRule annotation
Metal bindingi442 – 4421IronPROSITE-ProRule annotation
Metal bindingi510 – 5101IronPROSITE-ProRule annotation
Binding sitei520 – 52012-oxoglutaratePROSITE-ProRule annotation

GO - Molecular functioni

  1. iron ion binding Source: InterPro
  2. L-ascorbic acid binding Source: UniProtKB-KW
  3. oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen Source: InterPro
  4. procollagen-proline 4-dioxygenase activity Source: UniProtKB-EC
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Ligandi

Iron, Metal-binding, Vitamin C

Enzyme and pathway databases

BRENDAi1.14.11.2. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Prolyl 4-hydroxylase subunit alpha-3 (EC:1.14.11.2)
Short name:
4-PH alpha-3
Alternative name(s):
Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-3
Gene namesi
Name:P4HA3
ORF Names:UNQ711/PRO1374
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:30135. P4HA3.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134870931.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919Sequence AnalysisAdd
BLAST
Chaini20 – 544525Prolyl 4-hydroxylase subunit alpha-3PRO_0000317766Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi242 – 2421N-linked (GlcNAc...)Sequence Analysis
Glycosylationi482 – 4821N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylation plays no role in the catalytic activity.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ7Z4N8.
PaxDbiQ7Z4N8.
PRIDEiQ7Z4N8.

PTM databases

PhosphoSiteiQ7Z4N8.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiQ7Z4N8.
CleanExiHS_P4HA3.
ExpressionAtlasiQ7Z4N8. baseline and differential.
GenevestigatoriQ7Z4N8.

Organism-specific databases

HPAiHPA007897.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi129495. 2 interactions.
STRINGi9606.ENSP00000332170.

Structurei

3D structure databases

ProteinModelPortaliQ7Z4N8.
SMRiQ7Z4N8. Positions 44-276, 338-528.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati227 – 26034TPRAdd
BLAST
Domaini422 – 529108Fe2OG dioxygenasePROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili107 – 13125Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the P4HA family.Curated
Contains 1 Fe2OG dioxygenase domain.PROSITE-ProRule annotation
Contains 1 TPR repeat.Curated

Keywords - Domaini

Coiled coil, Signal, TPR repeat

Phylogenomic databases

eggNOGiNOG289769.
GeneTreeiENSGT00390000018885.
HOGENOMiHOG000230465.
HOVERGENiHBG006834.
InParanoidiQ7Z4N8.
KOiK00472.
OMAiHLEPYIA.
OrthoDBiEOG7W6WKC.
PhylomeDBiQ7Z4N8.
TreeFamiTF313393.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
InterProiIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR013547. Pro_4_hyd_alph_N.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF03171. 2OG-FeII_Oxy. 1 hit.
PF08336. P4Ha_N. 1 hit.
[Graphical view]
SMARTiSM00702. P4Hc. 1 hit.
[Graphical view]
PROSITEiPS51471. FE2OG_OXY. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7Z4N8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MGPGARLAAL LAVLALGTGD PERAAARGDT FSALTSVARA LAPERRLLGL
60 70 80 90 100
LRRYLRGEEA RLRDLTRFYD KVLSLHEDST TPVANPLLAF TLIKRLQSDW
110 120 130 140 150
RNVVHSLEAS ENIRALKDGY EKVEQDLPAF EDLEGAARAL MRLQDVYMLN
160 170 180 190 200
VKGLARGVFQ RVTGSAITDL YSPKRLFSLT GDDCFQVGKV AYDMGDYYHA
210 220 230 240 250
IPWLEEAVSL FRGSYGEWKT EDEASLEDAL DHLAFAYFRA GNVSCALSLS
260 270 280 290 300
REFLLYSPDN KRMARNVLKY ERLLAESPNH VVAEAVIQRP NIPHLQTRDT
310 320 330 340 350
YEGLCQTLGS QPTLYQIPSL YCSYETNSNA YLLLQPIRKE VIHLEPYIAL
360 370 380 390 400
YHDFVSDSEA QKIRELAEPW LQRSVVASGE KQLQVEYRIS KSAWLKDTVD
410 420 430 440 450
PKLVTLNHRI AALTGLDVRP PYAEYLQVVN YGIGGHYEPH FDHATSPSSP
460 470 480 490 500
LYRMKSGNRV ATFMIYLSSV EAGGATAFIY ANLSVPVVRN AALFWWNLHR
510 520 530 540
SGEGDSDTLH AGCPVLVGDK WVANKWIHEY GQEFRRPCSS SPED
Length:544
Mass (Da):61,126
Last modified:October 1, 2003 - v1
Checksum:i1C88C168A268572F
GO
Isoform 2 (identifier: Q7Z4N8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     257-257: S → R
     258-544: Missing.

Note: No experimental confirmation available.

Show »
Length:257
Mass (Da):28,701
Checksum:iA610B9B8CF4E4238
GO
Isoform 3 (identifier: Q7Z4N8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     490-544: NAALFWWNLH...RRPCSSSPED → HCFGGTCTGV...CYQGTLRMYI

Note: No experimental confirmation available.

Show »
Length:604
Mass (Da):67,591
Checksum:iE2A37A126C60A2A0
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti222 – 2221D → Y in AAH89446. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti400 – 4001D → N.1 Publication
Corresponds to variant rs2282488 [ dbSNP | Ensembl ].
VAR_038675

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei257 – 2571S → R in isoform 2. 1 PublicationVSP_031146
Alternative sequencei258 – 544287Missing in isoform 2. 1 PublicationVSP_031147Add
BLAST
Alternative sequencei490 – 54455NAALF…SSPED → HCFGGTCTGVVKGTVTHFML AVLSWWEISGWPTSGYMSMD RNSADPAAPALKTELLAERS WWSPVAFQRSQEPKAGVGEE KAEQPPGRRPCQLCLCLANQ RQGRGCYQGTLRMYI in isoform 3. 1 PublicationVSP_054131Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS73347.1. [Q7Z4N8-3]
CCDS8230.1. [Q7Z4N8-1]
RefSeqiNP_001275677.1. NM_001288748.1. [Q7Z4N8-3]
NP_878907.1. NM_182904.4. [Q7Z4N8-1]
UniGeneiHs.660541.

Genome annotation databases

EnsembliENST00000331597; ENSP00000332170; ENSG00000149380. [Q7Z4N8-1]
ENST00000427714; ENSP00000401749; ENSG00000149380. [Q7Z4N8-3]
ENST00000524388; ENSP00000433860; ENSG00000149380. [Q7Z4N8-2]
GeneIDi283208.
KEGGihsa:283208.
UCSCiuc001ouz.3. human. [Q7Z4N8-1]

Polymorphism databases

DMDMi74738714.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS73347.1. [Q7Z4N8-3 ]
CCDS8230.1. [Q7Z4N8-1 ]
RefSeqi NP_001275677.1. NM_001288748.1. [Q7Z4N8-3 ]
NP_878907.1. NM_182904.4. [Q7Z4N8-1 ]
UniGenei Hs.660541.

3D structure databases

ProteinModelPortali Q7Z4N8.
SMRi Q7Z4N8. Positions 44-276, 338-528.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129495. 2 interactions.
STRINGi 9606.ENSP00000332170.

PTM databases

PhosphoSitei Q7Z4N8.

Polymorphism databases

DMDMi 74738714.

Proteomic databases

MaxQBi Q7Z4N8.
PaxDbi Q7Z4N8.
PRIDEi Q7Z4N8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000331597 ; ENSP00000332170 ; ENSG00000149380 . [Q7Z4N8-1 ]
ENST00000427714 ; ENSP00000401749 ; ENSG00000149380 . [Q7Z4N8-3 ]
ENST00000524388 ; ENSP00000433860 ; ENSG00000149380 . [Q7Z4N8-2 ]
GeneIDi 283208.
KEGGi hsa:283208.
UCSCi uc001ouz.3. human. [Q7Z4N8-1 ]

Organism-specific databases

CTDi 283208.
GeneCardsi GC11M073947.
HGNCi HGNC:30135. P4HA3.
HPAi HPA007897.
MIMi 608987. gene.
neXtProti NX_Q7Z4N8.
PharmGKBi PA134870931.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289769.
GeneTreei ENSGT00390000018885.
HOGENOMi HOG000230465.
HOVERGENi HBG006834.
InParanoidi Q7Z4N8.
KOi K00472.
OMAi HLEPYIA.
OrthoDBi EOG7W6WKC.
PhylomeDBi Q7Z4N8.
TreeFami TF313393.

Enzyme and pathway databases

BRENDAi 1.14.11.2. 2681.

Miscellaneous databases

ChiTaRSi P4HA3. human.
GenomeRNAii 283208.
NextBioi 35475155.
PROi Q7Z4N8.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z4N8.
CleanExi HS_P4HA3.
ExpressionAtlasi Q7Z4N8. baseline and differential.
Genevestigatori Q7Z4N8.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
InterProi IPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR013547. Pro_4_hyd_alph_N.
IPR011990. TPR-like_helical_dom.
[Graphical view ]
Pfami PF03171. 2OG-FeII_Oxy. 1 hit.
PF08336. P4Ha_N. 1 hit.
[Graphical view ]
SMARTi SM00702. P4Hc. 1 hit.
[Graphical view ]
PROSITEi PS51471. FE2OG_OXY. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. 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.

Entry informationi

Entry nameiP4HA3_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4N8
Secondary accession number(s): A0AV13
, B4DUD3, Q5EBL3, Q5JPA9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: October 1, 2003
Last modified: November 26, 2014
This is version 107 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3