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Q32P28

- P3H1_HUMAN

UniProt

Q32P28 - P3H1_HUMAN

Protein

Prolyl 3-hydroxylase 1

Gene

LEPRE1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 2 (27 Jun 2006)
      Previous versions | rss
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    Functioni

    Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). 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. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.1 Publication

    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 bindingi587 – 5871Iron
    Metal bindingi589 – 5891Iron
    Metal bindingi659 – 6591Iron
    Active sitei669 – 6691By 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: UniProt
    4. protein complex binding Source: UniProt

    GO - Biological processi

    1. bone development Source: UniProt
    2. cell growth Source: Ensembl
    3. chaperone-mediated protein folding Source: UniProt
    4. collagen fibril organization Source: Ensembl
    5. collagen metabolic process Source: UniProt
    6. extracellular matrix organization Source: Reactome
    7. negative regulation of cell proliferation Source: UniProtKB
    8. negative regulation of post-translational protein modification Source: UniProt
    9. peptidyl-proline hydroxylation Source: GOC
    10. protein folding Source: UniProt
    11. protein hydroxylation Source: UniProt
    12. protein stabilization Source: UniProt
    13. regulation of ossification Source: Ensembl
    14. regulation of protein secretion Source: UniProt

    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 1 (EC:1.14.11.7)
    Alternative name(s):
    Growth suppressor 1
    Leucine- and proline-enriched proteoglycan 1
    Short name:
    Leprecan-1
    Gene namesi
    Name:LEPRE1
    Synonyms:GROS1, P3H1
    ORF Names:PSEC0109
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:19316. LEPRE1.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix By similarity
    Note: Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG).1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProt
    2. endoplasmic reticulum lumen Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. macromolecular complex Source: UniProt
    5. membrane Source: UniProtKB
    6. nucleus Source: Ensembl
    7. proteinaceous extracellular matrix Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endoplasmic reticulum, Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120).1 Publication

    Keywords - Diseasei

    Dwarfism, Osteogenesis imperfecta

    Organism-specific databases

    MIMi610915. phenotype.
    Orphaneti216804. Osteogenesis imperfecta type 2.
    216812. Osteogenesis imperfecta type 3.
    PharmGKBiPA134930599.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2222Sequence AnalysisAdd
    BLAST
    Chaini23 – 736714Prolyl 3-hydroxylase 1PRO_0000240352Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi316 – 3161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi467 – 4671N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi540 – 5401N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    O-glycosylated; chondroitin sulfate.By similarity

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ32P28.
    PaxDbiQ32P28.
    PRIDEiQ32P28.

    PTM databases

    PhosphoSiteiQ32P28.

    Expressioni

    Gene expression databases

    ArrayExpressiQ32P28.
    BgeeiQ32P28.
    GenevestigatoriQ32P28.

    Organism-specific databases

    HPAiHPA012113.
    HPA016980.

    Interactioni

    Protein-protein interaction databases

    BioGridi122098. 50 interactions.
    IntActiQ32P28. 7 interactions.
    MINTiMINT-4537432.

    Structurei

    3D structure databases

    ProteinModelPortaliQ32P28.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati35 – 6834TPR 1Add
    BLAST
    Repeati143 – 17634TPR 2Add
    BLAST
    Repeati205 – 23834TPR 3Add
    BLAST
    Repeati301 – 33434TPR 4Add
    BLAST
    Domaini564 – 678115Fe2OG dioxygenasePROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili401 – 43939Sequence AnalysisAdd
    BLAST

    Motif

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

    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

    eggNOGiNOG269251.
    HOVERGENiHBG053224.
    KOiK08134.
    OMAiFNYLQFS.
    OrthoDBiEOG7BZVSS.
    PhylomeDBiQ32P28.
    TreeFamiTF320837.

    Family and domain databases

    Gene3Di1.25.40.10. 2 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 (4)i

    Sequence statusi: Complete.

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

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q32P28-1) [UniParc]FASTAAdd to Basket

    Also known as: GROS1-L, LEPREa, P3H1a

    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

    MAVRALKLLT TLLAVVAAAS QAEVESEAGW GMVTPDLLFA EGTAAYARGD    50
    WPGVVLSMER ALRSRAALRA LRLRCRTQCA ADFPWELDPD WSPSPAQASG 100
    AAALRDLSFF GGLLRRAACL RRCLGPPAAH SLSEEMELEF RKRSPYNYLQ 150
    VAYFKINKLE KAVAAAHTFF VGNPEHMEMQ QNLDYYQTMS GVKEADFKDL 200
    ETQPHMQEFR LGVRLYSEEQ PQEAVPHLEA ALQEYFVAYE ECRALCEGPY 250
    DYDGYNYLEY NADLFQAITD HYIQVLNCKQ NCVTELASHP SREKPFEDFL 300
    PSHYNYLQFA YYNIGNYTQA VECAKTYLLF FPNDEVMNQN LAYYAAMLGE 350
    EHTRSIGPRE SAKEYRQRSL LEKELLFFAY DVFGIPFVDP DSWTPEEVIP 400
    KRLQEKQKSE RETAVRISQE IGNLMKEIET LVEEKTKESL DVSRLTREGG 450
    PLLYEGISLT MNSKLLNGSQ RVVMDGVISD HECQELQRLT NVAATSGDGY 500
    RGQTSPHTPN EKFYGVTVFK ALKLGQEGKV PLQSAHLYYN VTEKVRRIME 550
    SYFRLDTPLY FSYSHLVCRT AIEEVQAERK DDSHPVHVDN CILNAETLVC 600
    VKEPPAYTFR DYSAILYLNG DFDGGNFYFT ELDAKTVTAE VQPQCGRAVG 650
    FSSGTENPHG VKAVTRGQRC AIALWFTLDP RHSERDRVQA DDLVKMLFSP 700
    EEMDLSQEQP LDAQQGPPEP AQESLSGSES KPKDEL 736
    Length:736
    Mass (Da):83,394
    Last modified:June 27, 2006 - v2
    Checksum:iEA1909828FAE685E
    GO
    Isoform 2 (identifier: Q32P28-2) [UniParc]FASTAAdd to Basket

    Also known as: GROS1-S

    The sequence of this isoform differs from the canonical sequence as follows:
         361-363: SAK → QGT
         364-736: Missing.

    Show »
    Length:363
    Mass (Da):41,215
    Checksum:i5B1837D6923D9C4A
    GO
    Isoform 3 (identifier: Q32P28-3) [UniParc]FASTAAdd to Basket

    Also known as: LEPREc

    The sequence of this isoform differs from the canonical sequence as follows:
         686-736: DRVQADDLVK...GSESKPKDEL → VRAARAGESS...NLPCPLGSSS

    Note: No experimental confirmation available.

    Show »
    Length:804
    Mass (Da):90,616
    Checksum:iDF635702F430A113
    GO
    Isoform 4 (identifier: Q32P28-4) [UniParc]FASTAAdd to Basket

    Also known as: LEPREb, P3H1b

    The sequence of this isoform differs from the canonical sequence as follows:
         686-736: DRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL → VRAARAGQGAGR

    Show »
    Length:697
    Mass (Da):78,922
    Checksum:iDF642E0B7E26E7F3
    GO

    Sequence cautioni

    The sequence AAH15309.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAB15256.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti102 – 1021A → G in AAG31018. (PubMed:10951563)Curated
    Sequence conflicti102 – 1021A → G in AAG31019. (PubMed:10951563)Curated
    Sequence conflicti321 – 3211V → G in AAG31018. (PubMed:10951563)Curated
    Sequence conflicti321 – 3211V → G in AAG31019. (PubMed:10951563)Curated
    Sequence conflicti396 – 3961E → G in BAB55264. (PubMed:14702039)Curated
    Sequence conflicti469 – 4691S → Y in AAG31019. (PubMed:10951563)Curated
    Sequence conflicti605 – 6051P → L in BAB15256. (PubMed:14702039)Curated
    Sequence conflicti711 – 7111L → M in BAB55291. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti349 – 3491G → R.
    Corresponds to variant rs6700677 [ dbSNP | Ensembl ].
    VAR_033252
    Natural varianti506 – 5061P → R.
    Corresponds to variant rs3738501 [ dbSNP | Ensembl ].
    VAR_033253
    Natural varianti549 – 5491M → I.
    Corresponds to variant rs11581921 [ dbSNP | Ensembl ].
    VAR_033254
    Natural varianti644 – 6441Q → K.
    Corresponds to variant rs3738497 [ dbSNP | Ensembl ].
    VAR_050442

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei361 – 3633SAK → QGT in isoform 2. 1 PublicationVSP_019346
    Alternative sequencei364 – 736373Missing in isoform 2. 1 PublicationVSP_019347Add
    BLAST
    Alternative sequencei686 – 73651DRVQA…PKDEL → VRAARAGESSWCCGDPFPER PWFAFLFPKSHCQWLRHERS TWDTSSNALSLWSHCLVLPG PAVNGIQVGKEVKTGSDAEF LVPSLGPTSAVLFQRVGPAG KEMSLGPLRNLPCPLGSSS in isoform 3. 1 PublicationVSP_019348Add
    BLAST
    Alternative sequencei686 – 73651DRVQA…PKDEL → VRAARAGQGAGR in isoform 4. 1 PublicationVSP_054864Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF097431 mRNA. Translation: AAG31018.1.
    AF097432 mRNA. Translation: AAG31019.1.
    AK025841 mRNA. Translation: BAB15256.1. Different initiation.
    AK027648 mRNA. Translation: BAB55264.1.
    AK027680 mRNA. Translation: BAB55291.1.
    AK027697 mRNA. Translation: BAB55305.1.
    AK075418 mRNA. Translation: BAC11608.1.
    BC015309 mRNA. Translation: AAH15309.2. Different initiation.
    BC108311 mRNA. Translation: AAI08312.1.
    BT007039 mRNA. Translation: AAP35688.1.
    CCDSiCCDS472.2. [Q32P28-1]
    CCDS53307.1. [Q32P28-4]
    CCDS57986.1. [Q32P28-3]
    RefSeqiNP_001139761.1. NM_001146289.1. [Q32P28-4]
    NP_001230175.1. NM_001243246.1. [Q32P28-3]
    NP_071751.3. NM_022356.3. [Q32P28-1]
    UniGeneiHs.720014.

    Genome annotation databases

    EnsembliENST00000236040; ENSP00000236040; ENSG00000117385. [Q32P28-3]
    ENST00000296388; ENSP00000296388; ENSG00000117385. [Q32P28-1]
    ENST00000397054; ENSP00000380245; ENSG00000117385. [Q32P28-4]
    GeneIDi64175.
    KEGGihsa:64175.
    UCSCiuc001chv.2. human. [Q32P28-1]
    uc001chw.2. human. [Q32P28-3]
    uc001chy.4. human. [Q32P28-2]

    Polymorphism databases

    DMDMi109892809.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Osteogenesis imperfecta variant database

    Prolyl 3-hydroxylase 1 (LEPRE1)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF097431 mRNA. Translation: AAG31018.1 .
    AF097432 mRNA. Translation: AAG31019.1 .
    AK025841 mRNA. Translation: BAB15256.1 . Different initiation.
    AK027648 mRNA. Translation: BAB55264.1 .
    AK027680 mRNA. Translation: BAB55291.1 .
    AK027697 mRNA. Translation: BAB55305.1 .
    AK075418 mRNA. Translation: BAC11608.1 .
    BC015309 mRNA. Translation: AAH15309.2 . Different initiation.
    BC108311 mRNA. Translation: AAI08312.1 .
    BT007039 mRNA. Translation: AAP35688.1 .
    CCDSi CCDS472.2. [Q32P28-1 ]
    CCDS53307.1. [Q32P28-4 ]
    CCDS57986.1. [Q32P28-3 ]
    RefSeqi NP_001139761.1. NM_001146289.1. [Q32P28-4 ]
    NP_001230175.1. NM_001243246.1. [Q32P28-3 ]
    NP_071751.3. NM_022356.3. [Q32P28-1 ]
    UniGenei Hs.720014.

    3D structure databases

    ProteinModelPortali Q32P28.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122098. 50 interactions.
    IntActi Q32P28. 7 interactions.
    MINTi MINT-4537432.

    Chemistry

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

    PTM databases

    PhosphoSitei Q32P28.

    Polymorphism databases

    DMDMi 109892809.

    Proteomic databases

    MaxQBi Q32P28.
    PaxDbi Q32P28.
    PRIDEi Q32P28.

    Protocols and materials databases

    DNASUi 64175.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000236040 ; ENSP00000236040 ; ENSG00000117385 . [Q32P28-3 ]
    ENST00000296388 ; ENSP00000296388 ; ENSG00000117385 . [Q32P28-1 ]
    ENST00000397054 ; ENSP00000380245 ; ENSG00000117385 . [Q32P28-4 ]
    GeneIDi 64175.
    KEGGi hsa:64175.
    UCSCi uc001chv.2. human. [Q32P28-1 ]
    uc001chw.2. human. [Q32P28-3 ]
    uc001chy.4. human. [Q32P28-2 ]

    Organism-specific databases

    CTDi 64175.
    GeneCardsi GC01M043185.
    HGNCi HGNC:19316. LEPRE1.
    HPAi HPA012113.
    HPA016980.
    MIMi 610339. gene.
    610915. phenotype.
    neXtProti NX_Q32P28.
    Orphaneti 216804. Osteogenesis imperfecta type 2.
    216812. Osteogenesis imperfecta type 3.
    PharmGKBi PA134930599.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG269251.
    HOVERGENi HBG053224.
    KOi K08134.
    OMAi FNYLQFS.
    OrthoDBi EOG7BZVSS.
    PhylomeDBi Q32P28.
    TreeFami TF320837.

    Enzyme and pathway databases

    Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

    Miscellaneous databases

    ChiTaRSi LEPRE1. human.
    GenomeRNAii 64175.
    NextBioi 66095.
    PROi Q32P28.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q32P28.
    Bgeei Q32P28.
    Genevestigatori Q32P28.

    Family and domain databases

    Gene3Di 1.25.40.10. 2 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. "Gros1, a potential growth suppressor on chromosome 1: its identity to basement membrane-associated proteoglycan, leprecan."
      Kaul S.C., Sugihara T., Yoshida A., Nomura H., Wadhwa R.
      Oncogene 19:3576-3583(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION.
      Tissue: Testis.
    2. "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] (ISOFORMS 1 AND 3).
      Tissue: Epithelium and Teratocarcinoma.
    3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Teratocarcinoma.
    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] (ISOFORMS 1 AND 4).
      Tissue: Duodenum and Testis.
    5. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 347-736 (ISOFORM 1).
    6. "Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta."
      Cabral W.A., Chang W., Barnes A.M., Weis M., Scott M.A., Leikin S., Makareeva E., Kuznetsova N.V., Rosenbaum K.N., Tifft C.J., Bulas D.I., Kozma C., Smith P.A., Eyre D.R., Marini J.C.
      Nat. Genet. 39:359-365(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN OI8.
    7. "Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation."
      Willaert A., Malfait F., Symoens S., Gevaert K., Kayserili H., Megarbane A., Mortier G., Leroy J.G., Coucke P.J., De Paepe A.
      J. Med. Genet. 46:233-241(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN OI8, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING (ISOFORMS 1; 3 AND 4).
    8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
      J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-540.
      Tissue: Liver.
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiP3H1_HUMAN
    AccessioniPrimary (citable) accession number: Q32P28
    Secondary accession number(s): Q7KZR4
    , Q96BR8, Q96SK8, Q96SL5, Q96SN3, Q9H6K3, Q9HC86, Q9HC87
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 27, 2006
    Last sequence update: June 27, 2006
    Last modified: October 1, 2014
    This is version 99 of the entry and version 2 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 1
      Human chromosome 1: 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