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Protein

Prolyl 3-hydroxylase 2

Gene

P3H2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Catalytic activityi

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

Cofactori

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi580Iron1
Metal bindingi582Iron1
Metal bindingi652Iron1
Active sitei662By similarity1

GO - Molecular functioni

GO - Biological processi

  • collagen metabolic process Source: UniProtKB
  • negative regulation of cell proliferation Source: UniProtKB
  • peptidyl-proline hydroxylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Ligandi

Iron, Metal-binding, Vitamin C

Enzyme and pathway databases

BioCyciZFISH:HS01693-MONOMER.
BRENDAi1.14.11.7. 2681.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Prolyl 3-hydroxylase 2Imported (EC:1.14.11.7)
Alternative name(s):
Leprecan-like protein 11 Publication
Myxoid liposarcoma-associated protein 41 Publication
Gene namesi
Name:P3H2Imported
Synonyms:LEPREL11 Publication, MLAT41 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:19317. P3H2.

Subcellular locationi

GO - Cellular componenti

  • basement membrane Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • Golgi apparatus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Myopia, high, with cataract and vitreoretinal degeneration (MCVD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment.
See also OMIM:614292
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066637508G → V in MCVD; loss of function. 1 PublicationCorresponds to variant rs724159988dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi55214.
MIMi614292. phenotype.
OpenTargetsiENSG00000090530.
Orphaneti98619. Rare isolated myopia.
PharmGKBiPA134922807.

Chemistry databases

DrugBankiDB00172. L-Proline.
DB00139. Succinic acid.
DB00126. Vitamin C.

Polymorphism and mutation databases

BioMutaiLEPREL1.
DMDMi74714365.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000024035625 – 708Prolyl 3-hydroxylase 2Add BLAST684

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi449N-linked (GlcNAc...)Sequence analysis1
Glycosylationi549N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8IVL5.
MaxQBiQ8IVL5.
PaxDbiQ8IVL5.
PeptideAtlasiQ8IVL5.
PRIDEiQ8IVL5.

PTM databases

iPTMnetiQ8IVL5.
PhosphoSitePlusiQ8IVL5.

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

BgeeiENSG00000090530.
CleanExiHS_LEPREL1.
ExpressionAtlasiQ8IVL5. baseline and differential.
GenevisibleiQ8IVL5. HS.

Organism-specific databases

HPAiHPA007890.
HPA013355.

Interactioni

Protein-protein interaction databases

BioGridi120510. 13 interactors.
IntActiQ8IVL5. 9 interactors.
STRINGi9606.ENSP00000316881.

Structurei

3D structure databases

ProteinModelPortaliQ8IVL5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati44 – 77TPR 1Add BLAST34
Repeati148 – 181TPR 2Add BLAST34
Repeati210 – 243TPR 3Add BLAST34
Repeati306 – 339TPR 4Add BLAST34
Domaini557 – 671Fe2OG dioxygenasePROSITE-ProRule annotationAdd BLAST115

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi705 – 708Prevents secretion from ERPROSITE-ProRule annotation4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi93 – 99Poly-Pro7

Sequence similaritiesi

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

Keywords - Domaini

Repeat, Signal, TPR repeat

Phylogenomic databases

eggNOGiKOG4459. Eukaryota.
ENOG410XPXF. LUCA.
GeneTreeiENSGT00550000074573.
HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL5.
OMAiCYRSCET.
OrthoDBiEOG091G06WO.
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_dom.
[Graphical view]
PfamiPF13640. 2OG-FeII_Oxy_3. 1 hit.
[Graphical view]
SMARTiSM00702. P4Hc. 1 hit.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 4 hits.
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. AlignAdd to basket

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

        10         20         30         40         50
MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS
60 70 80 90 100
GAAAYYSGDY ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG
110 120 130 140 150
EGPGAELPLF RSLLGRARCY RSCETQRLGG PASRHRVSED VRSDFQRRVP
160 170 180 190 200
YNYLQRAYIK LNQLEKAVEA AHTFFVANPE HMEMQQNIEN YRATAGVEAL
210 220 230 240 250
QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY FVEDTECRTL
260 270 280 290 300
CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP
310 320 330 340 350
IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE
360 370 380 390 400
SLLDDSIDPA SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI
410 420 430 440 450
RYGGRQDENR VPSGVNVEGA EVHGFSMGKK LSPKIDRDLR EGGPLLYENI
460 470 480 490 500
TFVYNSEQLN GTQRVLLDNV LSEEQCRELH SVASGIMLVG DGYRGKTSPH
510 520 530 540 550
TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR IVESYFMLNS
560 570 580 590 600
TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY
610 620 630 640 650
TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN
660 670 680 690 700
PHGVKAVTKG KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL

NINPKDEL
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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti477R → Q in BAG51712 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066637508G → V in MCVD; loss of function. 1 PublicationCorresponds to variant rs724159988dbSNPEnsembl.1
Natural variantiVAR_036123613D → N in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538141 – 181Missing in isoform 2. CuratedAdd BLAST181

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011511257.1. XM_011512955.1. [Q8IVL5-2]
UniGeneiHs.374191.

Genome annotation databases

EnsembliENST00000319332; ENSP00000316881; ENSG00000090530. [Q8IVL5-1]
ENST00000427335; ENSP00000408947; ENSG00000090530. [Q8IVL5-2]
GeneIDi55214.
KEGGihsa:55214.
UCSCiuc003fsg.4. human. [Q8IVL5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011511257.1. XM_011512955.1. [Q8IVL5-2]
UniGeneiHs.374191.

3D structure databases

ProteinModelPortaliQ8IVL5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120510. 13 interactors.
IntActiQ8IVL5. 9 interactors.
STRINGi9606.ENSP00000316881.

Chemistry databases

DrugBankiDB00172. L-Proline.
DB00139. Succinic acid.
DB00126. Vitamin C.

PTM databases

iPTMnetiQ8IVL5.
PhosphoSitePlusiQ8IVL5.

Polymorphism and mutation databases

BioMutaiLEPREL1.
DMDMi74714365.

Proteomic databases

EPDiQ8IVL5.
MaxQBiQ8IVL5.
PaxDbiQ8IVL5.
PeptideAtlasiQ8IVL5.
PRIDEiQ8IVL5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319332; ENSP00000316881; ENSG00000090530. [Q8IVL5-1]
ENST00000427335; ENSP00000408947; ENSG00000090530. [Q8IVL5-2]
GeneIDi55214.
KEGGihsa:55214.
UCSCiuc003fsg.4. human. [Q8IVL5-1]

Organism-specific databases

CTDi55214.
DisGeNETi55214.
GeneCardsiP3H2.
HGNCiHGNC:19317. P3H2.
HPAiHPA007890.
HPA013355.
MIMi610341. gene.
614292. phenotype.
neXtProtiNX_Q8IVL5.
OpenTargetsiENSG00000090530.
Orphaneti98619. Rare isolated myopia.
PharmGKBiPA134922807.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4459. Eukaryota.
ENOG410XPXF. LUCA.
GeneTreeiENSGT00550000074573.
HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL5.
OMAiCYRSCET.
OrthoDBiEOG091G06WO.
PhylomeDBiQ8IVL5.
TreeFamiTF320837.

Enzyme and pathway databases

BioCyciZFISH:HS01693-MONOMER.
BRENDAi1.14.11.7. 2681.
ReactomeiR-HSA-1650814. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSiLEPREL1. human.
GenomeRNAii55214.
PROiQ8IVL5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000090530.
CleanExiHS_LEPREL1.
ExpressionAtlasiQ8IVL5. baseline and differential.
GenevisibleiQ8IVL5. HS.

Family and domain databases

Gene3Di1.25.40.10. 4 hits.
InterProiIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF13640. 2OG-FeII_Oxy_3. 1 hit.
[Graphical view]
SMARTiSM00702. P4Hc. 1 hit.
[Graphical view]
SUPFAMiSSF48452. SSF48452. 4 hits.
PROSITEiPS00014. ER_TARGET. 1 hit.
PS51471. FE2OG_OXY. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 123 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.