SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8IVL5

- P3H2_HUMAN

UniProt

Q8IVL5 - P3H2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Prolyl 3-hydroxylase 2
Gene
LEPREL1, MLAT4, P3H2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.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 bindingi580 – 5801Iron
Metal bindingi582 – 5821Iron
Metal bindingi652 – 6521Iron
Active sitei662 – 6621 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: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. collagen metabolic process Source: UniProtKB
  2. extracellular matrix organization Source: Reactome
  3. negative regulation of cell proliferation Source: UniProtKB
  4. peptidyl-proline hydroxylation Source: UniProtKB
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 2 (EC:1.14.11.7)
Alternative name(s):
Leprecan-like protein 1
Myxoid liposarcoma-associated protein 4
Gene namesi
Name:LEPREL1
Synonyms:MLAT4, P3H2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:19317. LEPREL1.

Subcellular locationi

Endoplasmic reticulum. Golgi apparatus 1 Publication

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB
  2. basement membrane Source: UniProtKB
  3. endoplasmic reticulum Source: UniProtKB
  4. endoplasmic reticulum lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti508 – 5081G → V in MCVD; loss of function. 1 Publication
VAR_066637

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614292. phenotype.
Orphaneti98619. Rare isolated myopia.
PharmGKBiPA134922807.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424 Reviewed prediction
Add
BLAST
Chaini25 – 708684Prolyl 3-hydroxylase 2
PRO_0000240356Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi449 – 4491N-linked (GlcNAc...) Reviewed prediction
Glycosylationi549 – 5491N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8IVL5.
PaxDbiQ8IVL5.
PRIDEiQ8IVL5.

PTM databases

PhosphoSiteiQ8IVL5.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

ArrayExpressiQ8IVL5.
BgeeiQ8IVL5.
CleanExiHS_LEPREL1.
GenevestigatoriQ8IVL5.

Organism-specific databases

HPAiHPA007890.
HPA013355.

Interactioni

Protein-protein interaction databases

BioGridi120510. 1 interaction.
IntActiQ8IVL5. 3 interactions.
STRINGi9606.ENSP00000316881.

Structurei

3D structure databases

ProteinModelPortaliQ8IVL5.
SMRiQ8IVL5. Positions 310-350.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati44 – 7734TPR 1
Add
BLAST
Repeati148 – 18134TPR 2
Add
BLAST
Repeati210 – 24334TPR 3
Add
BLAST
Repeati306 – 33934TPR 4
Add
BLAST
Domaini557 – 671115Fe2OG dioxygenase
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi705 – 7084Prevents secretion from ER Reviewed prediction

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi93 – 997Poly-Pro

Sequence similaritiesi

Belongs to the leprecan family.
Contains 4 TPR repeats.

Keywords - Domaini

Repeat, Signal, TPR repeat

Phylogenomic databases

eggNOGiNOG269251.
HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL5.
OMAiQGKHELN.
OrthoDBiEOG7BZVSS.
PhylomeDBiQ8IVL5.
TreeFamiTF320837.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
[Graphical view]
PfamiPF13640. 2OG-FeII_Oxy_3. 1 hit.
PF07719. TPR_2. 2 hits.
[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: Q8IVL5-1) [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

MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS    50
GAAAYYSGDY ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG 100
EGPGAELPLF RSLLGRARCY RSCETQRLGG PASRHRVSED VRSDFQRRVP 150
YNYLQRAYIK LNQLEKAVEA AHTFFVANPE HMEMQQNIEN YRATAGVEAL 200
QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY FVEDTECRTL 250
CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP 300
IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE 350
SLLDDSIDPA SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI 400
RYGGRQDENR VPSGVNVEGA EVHGFSMGKK LSPKIDRDLR EGGPLLYENI 450
TFVYNSEQLN GTQRVLLDNV LSEEQCRELH SVASGIMLVG DGYRGKTSPH 500
TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR IVESYFMLNS 550
TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY 600
TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN 650
PHGVKAVTKG KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL 700
NINPKDEL 708
Length:708
Mass (Da):80,984
Last modified:March 1, 2003 - v1
Checksum:iB9E680C90D607291
GO
Isoform 2 (identifier: Q8IVL5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-181: Missing.

Note: No experimental confirmation available.

Show »
Length:527
Mass (Da):60,387
Checksum:iD3B80AE780F6D8DD
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti508 – 5081G → V in MCVD; loss of function. 1 Publication
VAR_066637
Natural varianti613 – 6131D → N in a breast cancer sample; somatic mutation. 1 Publication
VAR_036123

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 181181Missing in isoform 2.
VSP_053814Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti477 – 4771R → Q in BAG51712. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3294.1. [Q8IVL5-1]
CCDS46981.1. [Q8IVL5-2]
RefSeqiNP_001127890.1. NM_001134418.1. [Q8IVL5-2]
NP_060662.2. NM_018192.3. [Q8IVL5-1]
UniGeneiHs.374191.

Genome annotation databases

EnsembliENST00000319332; ENSP00000316881; ENSG00000090530.
ENST00000427335; ENSP00000408947; ENSG00000090530.
GeneIDi55214.
KEGGihsa:55214.
UCSCiuc003fsg.3. human. [Q8IVL5-1]

Polymorphism databases

DMDMi74714365.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3294.1. [Q8IVL5-1 ]
CCDS46981.1. [Q8IVL5-2 ]
RefSeqi NP_001127890.1. NM_001134418.1. [Q8IVL5-2 ]
NP_060662.2. NM_018192.3. [Q8IVL5-1 ]
UniGenei Hs.374191.

3D structure databases

ProteinModelPortali Q8IVL5.
SMRi Q8IVL5. Positions 310-350.
ModBasei Search...

Protein-protein interaction databases

BioGridi 120510. 1 interaction.
IntActi Q8IVL5. 3 interactions.
STRINGi 9606.ENSP00000316881.

Chemistry

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

PTM databases

PhosphoSitei Q8IVL5.

Polymorphism databases

DMDMi 74714365.

Proteomic databases

MaxQBi Q8IVL5.
PaxDbi Q8IVL5.
PRIDEi Q8IVL5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319332 ; ENSP00000316881 ; ENSG00000090530 .
ENST00000427335 ; ENSP00000408947 ; ENSG00000090530 .
GeneIDi 55214.
KEGGi hsa:55214.
UCSCi uc003fsg.3. human. [Q8IVL5-1 ]

Organism-specific databases

CTDi 55214.
GeneCardsi GC03M189674.
HGNCi HGNC:19317. LEPREL1.
HPAi HPA007890.
HPA013355.
MIMi 610341. gene.
614292. phenotype.
neXtProti NX_Q8IVL5.
Orphaneti 98619. Rare isolated myopia.
PharmGKBi PA134922807.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269251.
HOGENOMi HOG000231087.
HOVERGENi HBG053224.
InParanoidi Q8IVL5.
OMAi QGKHELN.
OrthoDBi EOG7BZVSS.
PhylomeDBi Q8IVL5.
TreeFami TF320837.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

GenomeRNAii 55214.
NextBioi 35469224.
PROi Q8IVL5.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IVL5.
Bgeei Q8IVL5.
CleanExi HS_LEPREL1.
Genevestigatori Q8IVL5.

Family and domain databases

Gene3Di 1.25.40.10. 4 hits.
InterProi IPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR011990. TPR-like_helical.
IPR013105. TPR_2.
[Graphical view ]
Pfami PF13640. 2OG-FeII_Oxy_3. 1 hit.
PF07719. TPR_2. 2 hits.
[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. "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.
    , 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.
    , 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-613.
  8. Cited for: VARIANT MCVD VAL-508, CHARACTERIZATION OF VARIANT MCVD VAL-508.

Entry informationi

Entry nameiP3H2_HUMAN
AccessioniPrimary (citable) accession number: Q8IVL5
Secondary accession number(s): B3KPK0
, B3KWI9, D3DNV8, Q9NVI2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: March 1, 2003
Last modified: September 3, 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 3
    Human chromosome 3: 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

Similar proteinsi