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Q7Z4N8

- P4HA3_HUMAN

UniProt

Q7Z4N8 - P4HA3_HUMAN

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
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      Previous versions | rss
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    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

    Binds 1 Fe2+ ion per subunit.
    Ascorbate.

    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

    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 lumen Source: UniProtKB-SubCell

    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

    ArrayExpressiQ7Z4N8.
    BgeeiQ7Z4N8.
    CleanExiHS_P4HA3.
    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. 1 interaction.
    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.
    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.
    [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

    MGPGARLAAL LAVLALGTGD PERAAARGDT FSALTSVARA LAPERRLLGL    50
    LRRYLRGEEA RLRDLTRFYD KVLSLHEDST TPVANPLLAF TLIKRLQSDW 100
    RNVVHSLEAS ENIRALKDGY EKVEQDLPAF EDLEGAARAL MRLQDVYMLN 150
    VKGLARGVFQ RVTGSAITDL YSPKRLFSLT GDDCFQVGKV AYDMGDYYHA 200
    IPWLEEAVSL FRGSYGEWKT EDEASLEDAL DHLAFAYFRA GNVSCALSLS 250
    REFLLYSPDN KRMARNVLKY ERLLAESPNH VVAEAVIQRP NIPHLQTRDT 300
    YEGLCQTLGS QPTLYQIPSL YCSYETNSNA YLLLQPIRKE VIHLEPYIAL 350
    YHDFVSDSEA QKIRELAEPW LQRSVVASGE KQLQVEYRIS KSAWLKDTVD 400
    PKLVTLNHRI AALTGLDVRP PYAEYLQVVN YGIGGHYEPH FDHATSPSSP 450
    LYRMKSGNRV ATFMIYLSSV EAGGATAFIY ANLSVPVVRN AALFWWNLHR 500
    SGEGDSDTLH AGCPVLVGDK WVANKWIHEY GQEFRRPCSS SPED 544
    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:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSiCCDS8230.1. [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:
    EMBL
    GenBank
    DDBJ
    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 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. 1 interaction.
    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.
    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

    ArrayExpressi Q7Z4N8.
    Bgeei Q7Z4N8.
    CleanExi HS_P4HA3.
    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.
    [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

    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: October 1, 2014
    This is version 105 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