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Q8IVL5 (P3H2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Prolyl 3-hydroxylase 2

EC=1.14.11.7
Alternative name(s):
Leprecan-like protein 1
Myxoid liposarcoma-associated protein 4
Gene names
Name:LEPREL1
Synonyms:MLAT4, P3H2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length708 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Shows prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types II, IV and V By similarity. Ref.2

Catalytic activity

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

Cofactor

Iron By similarity.

Ascorbate By similarity.

Subcellular location

Endoplasmic reticulum. Golgi apparatus Ref.2.

Tissue specificity

Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells. Ref.2

Involvement in disease

Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence similarities

Belongs to the leprecan family.

Contains 1 Fe2OG dioxygenase domain.

Contains 4 TPR repeats.

Sequence caution

The sequence BAA91769.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Golgi apparatus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainRepeat
Signal
TPR repeat
   LigandIron
Metal-binding
Vitamin C
   Molecular functionDioxygenase
Oxidoreductase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcollagen metabolic process

Inferred from direct assay PubMed 18487197. Source: UniProtKB

extracellular matrix organization

Traceable author statement. Source: Reactome

negative regulation of cell proliferation

Inferred from direct assay PubMed 19436308. Source: UniProtKB

peptidyl-proline hydroxylation

Inferred from direct assay PubMed 18487197. Source: UniProtKB

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.2. Source: UniProtKB

basement membrane

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum

Inferred from direct assay Ref.2. Source: UniProtKB

endoplasmic reticulum lumen

Traceable author statement. Source: Reactome

   Molecular_functionL-ascorbic acid binding

Inferred from electronic annotation. Source: InterPro

iron ion binding

Inferred from electronic annotation. Source: InterPro

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors

Inferred from electronic annotation. Source: InterPro

procollagen-proline 3-dioxygenase activity

Inferred from direct assay PubMed 18487197. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IVL5-1)

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.
Isoform 2 (identifier: Q8IVL5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-181: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 708684Prolyl 3-hydroxylase 2
PRO_0000240356

Regions

Repeat44 – 7734TPR 1
Repeat148 – 18134TPR 2
Repeat210 – 24334TPR 3
Repeat306 – 33934TPR 4
Domain557 – 671115Fe2OG dioxygenase
Motif705 – 7084Prevents secretion from ER Potential
Compositional bias93 – 997Poly-Pro

Sites

Active site6621 By similarity
Metal binding5801Iron
Metal binding5821Iron
Metal binding6521Iron

Amino acid modifications

Glycosylation4491N-linked (GlcNAc...) Potential
Glycosylation5491N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 181181Missing in isoform 2.
VSP_053814
Natural variant5081G → V in MCVD; loss of function. Ref.8
VAR_066637
Natural variant6131D → N in a breast cancer sample; somatic mutation. Ref.7
VAR_036123

Experimental info

Sequence conflict4771R → Q in BAG51712. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: B9E680C90D607291

FASTA70880,984
        10         20         30         40         50         60 
MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS GAAAYYSGDY 

        70         80         90        100        110        120 
ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG EGPGAELPLF RSLLGRARCY 

       130        140        150        160        170        180 
RSCETQRLGG PASRHRVSED VRSDFQRRVP YNYLQRAYIK LNQLEKAVEA AHTFFVANPE 

       190        200        210        220        230        240 
HMEMQQNIEN YRATAGVEAL QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY 

       250        260        270        280        290        300 
FVEDTECRTL CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP 

       310        320        330        340        350        360 
IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE SLLDDSIDPA 

       370        380        390        400        410        420 
SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI RYGGRQDENR VPSGVNVEGA 

       430        440        450        460        470        480 
EVHGFSMGKK LSPKIDRDLR EGGPLLYENI TFVYNSEQLN GTQRVLLDNV LSEEQCRELH 

       490        500        510        520        530        540 
SVASGIMLVG DGYRGKTSPH TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR 

       550        560        570        580        590        600 
IVESYFMLNS TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY 

       610        620        630        640        650        660 
TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN PHGVKAVTKG 

       670        680        690        700 
KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL NINPKDEL 

« Hide

Isoform 2 [UniParc].

Checksum: D3B80AE780F6D8DD
Show »

FASTA52760,387

References

« Hide 'large scale' references
[1]"Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas."
Thelin-Jaernum S., Lassen C., Panagopoulos I., Mandahl N., Aaman P.
Int. J. Cancer 83:30-33(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Liposarcoma.
[2]"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), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, POSSIBLE FUNCTION.
Tissue: Liposarcoma.
[3]"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. expand/collapse author list , 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 1).
Tissue: Teratocarcinoma and Tongue.
[4]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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 161-708 (ISOFORM 1).
Tissue: Lung.
[7]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-613.
[8]"High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2."
Mordechai S., Gradstein L., Pasanen A., Ofir R., El Amour K., Levy J., Belfair N., Lifshitz T., Joshua S., Narkis G., Elbedour K., Myllyharju J., Birk O.S.
Am. J. Hum. Genet. 89:438-445(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCVD VAL-508, CHARACTERIZATION OF VARIANT MCVD VAL-508.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ430351 mRNA. Translation: CAD23039.2.
AK001580 mRNA. Translation: BAA91769.1. Different initiation.
AK056447 mRNA. Translation: BAG51712.1.
AK125134 mRNA. Translation: BAG54151.1.
AC016966 Genomic DNA. No translation available.
AC063939 Genomic DNA. No translation available.
AC099660 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW78109.1.
CH471052 Genomic DNA. Translation: EAW78110.1.
CH471052 Genomic DNA. Translation: EAW78111.1.
BC005029 mRNA. Translation: AAH05029.1.
RefSeqNP_001127890.1. NM_001134418.1.
NP_060662.2. NM_018192.3.
UniGeneHs.374191.

3D structure databases

ProteinModelPortalQ8IVL5.
SMRQ8IVL5. Positions 149-195, 211-239.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120510. 1 interaction.
IntActQ8IVL5. 3 interactions.
STRING9606.ENSP00000316881.

Chemistry

DrugBankDB00172. L-Proline.
DB00139. Succinic acid.
DB00126. Vitamin C.

PTM databases

PhosphoSiteQ8IVL5.

Polymorphism databases

DMDM74714365.

Proteomic databases

PaxDbQ8IVL5.
PRIDEQ8IVL5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319332; ENSP00000316881; ENSG00000090530.
ENST00000427335; ENSP00000408947; ENSG00000090530.
GeneID55214.
KEGGhsa:55214.
UCSCuc003fsg.3. human. [Q8IVL5-1]

Organism-specific databases

CTD55214.
GeneCardsGC03M189674.
HGNCHGNC:19317. LEPREL1.
HPAHPA007890.
HPA013355.
MIM610341. gene.
614292. phenotype.
neXtProtNX_Q8IVL5.
Orphanet98619. Rare isolated myopia.
PharmGKBPA134922807.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG269251.
HOGENOMHOG000231087.
HOVERGENHBG053224.
InParanoidQ8IVL5.
OMAQGKHELN.
OrthoDBEOG7BZVSS.
PhylomeDBQ8IVL5.
TreeFamTF320837.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ8IVL5.
BgeeQ8IVL5.
CleanExHS_LEPREL1.
GenevestigatorQ8IVL5.

Family and domain databases

Gene3D1.25.40.10. 4 hits.
InterProIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
[Graphical view]
PfamPF13640. 2OG-FeII_Oxy_3. 1 hit.
PF07719. TPR_2. 2 hits.
[Graphical view]
SMARTSM00702. P4Hc. 1 hit.
[Graphical view]
PROSITEPS00014. ER_TARGET. 1 hit.
PS51471. FE2OG_OXY. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55214.
NextBio35469224.
PROQ8IVL5.
SOURCESearch...

Entry information

Entry nameP3H2_HUMAN
AccessionPrimary (citable) accession number: Q8IVL5
Secondary accession number(s): B3KPK0 expand/collapse secondary AC list , B3KWI9, D3DNV8, Q9NVI2
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: March 1, 2003
Last modified: April 16, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM