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Q32P28

- P3H1_HUMAN

UniProt

Q32P28 - P3H1_HUMAN

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Protein
Prolyl 3-hydroxylase 1
Gene
LEPRE1, GROS1, P3H1, PSEC0109
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 6691 By similarity

GO - Molecular functioni

  1. L-ascorbic acid binding Source: UniProtKB-KW
  2. iron ion binding Source: InterPro
  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
Complete GO annotation...

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

Isoform 1 : Endoplasmic reticulum 1 Publication
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. nucleus Source: Ensembl
  6. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

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.
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 (1 Publication).2 Publications

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 – 2222 Reviewed prediction
Add
BLAST
Chaini23 – 736714Prolyl 3-hydroxylase 1
PRO_0000240352Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi316 – 3161N-linked (GlcNAc...) Reviewed prediction
Glycosylationi467 – 4671N-linked (GlcNAc...) Reviewed prediction
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.

Family & Domainsi

Domains and Repeats

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

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili401 – 43939 Reviewed prediction
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi733 – 7364Prevents secretion from ER Reviewed prediction

Sequence similaritiesi

Belongs to the leprecan family.
Contains 4 TPR repeats.

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.

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.
VSP_019346
Alternative sequencei364 – 736373Missing in isoform 2.
VSP_019347Add
BLAST
Alternative sequencei686 – 73651DRVQA…PKDEL → VRAARAGESSWCCGDPFPER PWFAFLFPKSHCQWLRHERS TWDTSSNALSLWSHCLVLPG PAVNGIQVGKEVKTGSDAEF LVPSLGPTSAVLFQRVGPAG KEMSLGPLRNLPCPLGSSS in isoform 3.
VSP_019348Add
BLAST
Alternative sequencei686 – 73651DRVQA…PKDEL → VRAARAGQGAGR in isoform 4.
VSP_054864Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti102 – 1021A → G in AAG31018. 1 Publication
Sequence conflicti102 – 1021A → G in AAG31019. 1 Publication
Sequence conflicti321 – 3211V → G in AAG31018. 1 Publication
Sequence conflicti321 – 3211V → G in AAG31019. 1 Publication
Sequence conflicti396 – 3961E → G in BAB55264. 1 Publication
Sequence conflicti469 – 4691S → Y in AAG31019. 1 Publication
Sequence conflicti605 – 6051P → L in BAB15256. 1 Publication
Sequence conflicti711 – 7111L → M in BAB55291. 1 Publication

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.
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 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 98 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

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