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Q8IVL6

- P3H3_HUMAN

UniProt

Q8IVL6 - P3H3_HUMAN

Protein

Prolyl 3-hydroxylase 3

Gene

LEPREL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types IV and V.By similarity

    Catalytic activityi

    L-proline-[procollagen] + 2-oxoglutarate + O2 = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO2.

    Cofactori

    Iron.By similarity
    Ascorbate.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi584 – 5841Iron
    Metal bindingi586 – 5861Iron
    Metal bindingi656 – 6561Iron
    Active sitei666 – 6661By similarity

    GO - Molecular functioni

    1. iron ion binding Source: InterPro
    2. L-ascorbic acid binding Source: UniProtKB-KW
    3. procollagen-proline 3-dioxygenase activity Source: UniProtKB-EC

    GO - Biological processi

    1. extracellular matrix organization Source: Reactome
    2. negative regulation of cell proliferation Source: UniProtKB

    Keywords - Molecular functioni

    Dioxygenase, Oxidoreductase

    Keywords - Ligandi

    Iron, Metal-binding, Vitamin C

    Enzyme and pathway databases

    ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Prolyl 3-hydroxylase 3 (EC:1.14.11.7)
    Alternative name(s):
    Leprecan-like protein 2
    Protein B
    Gene namesi
    Name:LEPREL2
    Synonyms:P3H3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:19318. LEPREL2.

    Subcellular locationi

    Endoplasmic reticulum PROSITE-ProRule annotation

    GO - Cellular componenti

    1. endoplasmic reticulum lumen Source: Reactome

    Keywords - Cellular componenti

    Endoplasmic reticulum

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134890414.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2020Sequence AnalysisAdd
    BLAST
    Chaini21 – 736716Prolyl 3-hydroxylase 3PRO_0000240360Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi331 – 3311N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi462 – 4621N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8IVL6.
    PRIDEiQ8IVL6.

    PTM databases

    PhosphoSiteiQ8IVL6.

    Expressioni

    Tissue specificityi

    Weak expression in heart, lung, ovary and skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiQ8IVL6.
    BgeeiQ8IVL6.
    CleanExiHS_LEPREL2.
    GenevestigatoriQ8IVL6.

    Interactioni

    Protein-protein interaction databases

    BioGridi115790. 1 interaction.
    STRINGi9606.ENSP00000311528.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8IVL6.
    SMRiQ8IVL6. Positions 37-65.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati37 – 7034TPR 1Add
    BLAST
    Repeati154 – 18734TPR 2Add
    BLAST
    Repeati216 – 24934TPR 3Add
    BLAST
    Repeati316 – 34934TPR 4Add
    BLAST
    Domaini561 – 675115Fe2OG dioxygenasePROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili681 – 70929Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi733 – 7364Prevents secretion from ERPROSITE-ProRule annotation

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi173 – 1775Poly-Ala
    Compositional biasi267 – 2704Poly-Glu
    Compositional biasi696 – 7049Poly-Glu

    Sequence similaritiesi

    Belongs to the leprecan family.Curated
    Contains 1 Fe2OG dioxygenase domain.PROSITE-ProRule annotation
    Contains 4 TPR repeats.Curated

    Keywords - Domaini

    Coiled coil, Repeat, Signal, TPR repeat

    Phylogenomic databases

    HOGENOMiHOG000231087.
    HOVERGENiHBG053224.
    InParanoidiQ8IVL6.
    PhylomeDBiQ8IVL6.

    Family and domain databases

    Gene3Di1.25.40.10. 3 hits.
    InterProiIPR005123. Oxoglu/Fe-dep_dioxygenase.
    IPR006620. Pro_4_hyd_alph.
    IPR011990. TPR-like_helical.
    [Graphical view]
    PfamiPF13640. 2OG-FeII_Oxy_3. 1 hit.
    [Graphical view]
    SMARTiSM00702. P4Hc. 1 hit.
    [Graphical view]
    PROSITEiPS00014. ER_TARGET. 1 hit.
    PS51471. FE2OG_OXY. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8IVL6-1) [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

    MLRLLRPLLL LLLLPPPGSP EPPGLTQLSP GAPPQAPDLL YADGLRAYAA    50
    GAWAPAVALL REALRSQAAL GRVRLDCGAS CAADPGAALP AVLLGAPEPD 100
    SGPGPTQGSW ERQLLRAALR RADCLTQCAA RRLGPGGAAR LRVGSALRDA 150
    FRRREPYNYL QRAYYQLKKL DLAAAAAHTF FVANPMHLQM REDMAKYRRM 200
    SGVRPQSFRD LETPPHWAAY DTGLELLGRQ EAGLALPRLE EALQGSLAQM 250
    ESCRADCEGP EEQQGAEEEE DGAASQGGLY EAIAGHWIQV LQCRQRCVGE 300
    TATRPGRSFP VPDFLPNQLR RLHEAHAQVG NLSQAIENVL SVLLFYPEDE 350
    AAKRALNQYQ AQLGEPRPGL GPREDIQRFI LRSLGEKRQL YYAMEHLGTS 400
    FKDPDPWTPA ALIPEALREK LREDQEKRPW DHEPVKPKPL TYWKDVLLLE 450
    GVTLTQDSRQ LNGSERAVLD GLLTPAECGV LLQLAKDAAG AGARSGYRGR 500
    RSPHTPHERF EGLTVLKAAQ LARAGTVGSQ GAKLLLEVSE RVRTLTQAYF 550
    SPERPLHLSF THLVCRSAIE GEQEQRMDLS HPVHADNCVL DPDTGECWRE 600
    PPAYTYRDYS GLLYLNDDFQ GGDLFFTEPN ALTVTARVRP RCGRLVAFSS 650
    GVENPHGVWA VTRGRRCALA LWHTWAPEHR EQEWIEAKEL LQESQEEEEE 700
    EEEEMPSKDP SPEPPSRRHQ RVQDKTGRAP RVREEL 736
    Length:736
    Mass (Da):81,837
    Last modified:March 1, 2003 - v1
    Checksum:i82526D30C9788369
    GO
    Isoform 2 (identifier: Q8IVL6-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-185: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:551
    Mass (Da):62,295
    Checksum:i1CAA483E15659886
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti79 – 824ASCA → RTRG in AAH67251. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti301 – 3011T → A.1 Publication
    Corresponds to variant rs10744716 [ dbSNP | Ensembl ].
    VAR_050443
    Natural varianti304 – 3041R → C.
    Corresponds to variant rs35359746 [ dbSNP | Ensembl ].
    VAR_050444
    Natural varianti385 – 3851G → E.
    Corresponds to variant rs1047771 [ dbSNP | Ensembl ].
    VAR_050445
    Natural varianti685 – 6851I → T.1 Publication
    Corresponds to variant rs1129649 [ dbSNP | Ensembl ].
    VAR_050446
    Natural varianti705 – 7051M → T.
    Corresponds to variant rs3213431 [ dbSNP | Ensembl ].
    VAR_050447

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 185185Missing in isoform 2. 1 PublicationVSP_019352Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U47924 Genomic DNA. Translation: AAB51312.1.
    U47926 mRNA. Translation: AAC50464.1.
    AJ430349 mRNA. Translation: CAD23037.1.
    BC017217 mRNA. Translation: AAH17217.2.
    BC067251 mRNA. Translation: AAH67251.1.
    BC080630 mRNA. Translation: AAH80630.1.
    CCDSiCCDS61027.1. [Q8IVL6-1]
    RefSeqiNP_055077.2. NM_014262.4. [Q8IVL6-1]
    UniGeneiHs.631655.

    Genome annotation databases

    EnsembliENST00000251761; ENSP00000475896; ENSG00000110811. [Q8IVL6-2]
    GeneIDi10536.
    KEGGihsa:10536.
    UCSCiuc001qra.1. human. [Q8IVL6-1]

    Polymorphism databases

    DMDMi74714366.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U47924 Genomic DNA. Translation: AAB51312.1 .
    U47926 mRNA. Translation: AAC50464.1 .
    AJ430349 mRNA. Translation: CAD23037.1 .
    BC017217 mRNA. Translation: AAH17217.2 .
    BC067251 mRNA. Translation: AAH67251.1 .
    BC080630 mRNA. Translation: AAH80630.1 .
    CCDSi CCDS61027.1. [Q8IVL6-1 ]
    RefSeqi NP_055077.2. NM_014262.4. [Q8IVL6-1 ]
    UniGenei Hs.631655.

    3D structure databases

    ProteinModelPortali Q8IVL6.
    SMRi Q8IVL6. Positions 37-65.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115790. 1 interaction.
    STRINGi 9606.ENSP00000311528.

    Chemistry

    DrugBanki DB00172. L-Proline.
    DB00139. Succinic acid.
    DB00126. Vitamin C.

    PTM databases

    PhosphoSitei Q8IVL6.

    Polymorphism databases

    DMDMi 74714366.

    Proteomic databases

    MaxQBi Q8IVL6.
    PRIDEi Q8IVL6.

    Protocols and materials databases

    DNASUi 10536.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000251761 ; ENSP00000475896 ; ENSG00000110811 . [Q8IVL6-2 ]
    GeneIDi 10536.
    KEGGi hsa:10536.
    UCSCi uc001qra.1. human. [Q8IVL6-1 ]

    Organism-specific databases

    CTDi 10536.
    GeneCardsi GC12P007107.
    HGNCi HGNC:19318. LEPREL2.
    MIMi 610342. gene.
    neXtProti NX_Q8IVL6.
    PharmGKBi PA134890414.
    GenAtlasi Search...

    Phylogenomic databases

    HOGENOMi HOG000231087.
    HOVERGENi HBG053224.
    InParanoidi Q8IVL6.
    PhylomeDBi Q8IVL6.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

    Miscellaneous databases

    GeneWikii LEPREL2.
    GenomeRNAii 10536.
    NextBioi 39973.
    PROi Q8IVL6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8IVL6.
    Bgeei Q8IVL6.
    CleanExi HS_LEPREL2.
    Genevestigatori Q8IVL6.

    Family and domain databases

    Gene3Di 1.25.40.10. 3 hits.
    InterProi IPR005123. Oxoglu/Fe-dep_dioxygenase.
    IPR006620. Pro_4_hyd_alph.
    IPR011990. TPR-like_helical.
    [Graphical view ]
    Pfami PF13640. 2OG-FeII_Oxy_3. 1 hit.
    [Graphical view ]
    SMARTi SM00702. P4Hc. 1 hit.
    [Graphical view ]
    PROSITEi PS00014. ER_TARGET. 1 hit.
    PS51471. FE2OG_OXY. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13."
      Ansari-Lari M.A., Muzny D.M., Lu J., Lu F., Lilley C.E., Spanos S., Malley T., Gibbs R.A.
      Genome Res. 6:314-326(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ALA-301.
      Tissue: Fibrosarcoma.
    2. "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination."
      Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.
      Genome Res. 7:268-280(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "LEPREL1, a novel ER and Golgi resident member of the Leprecan family."
      Jaernum S., Kjellman C., Darabi A., Nilsson I., Edvardsen K., Aaman P.
      Biochem. Biophys. Res. Commun. 317:342-351(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. "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] OF 54-736 (ISOFORM 1), VARIANT THR-685.
      Tissue: Eye and Uterus.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiP3H3_HUMAN
    AccessioniPrimary (citable) accession number: Q8IVL6
    Secondary accession number(s): Q13512
    , Q15740, Q66K32, Q6NX61, Q7L2T1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 101 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 12
      Human chromosome 12: 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