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Protein

Prolyl 3-hydroxylase 3

Gene

LEPREL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi584 – 5841Iron
Metal bindingi586 – 5861Iron
Metal bindingi656 – 6561Iron
Active sitei666 – 6661By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Dioxygenase, Oxidoreductase

Keywords - Ligandi

Iron, Metal-binding, Vitamin C

Enzyme and pathway databases

BRENDAi1.14.11.28. 2681.
1.14.11.7. 2681.
ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

Names & Taxonomyi

Protein namesi
Recommended name:
Prolyl 3-hydroxylase 3 (EC:1.14.11.7)
Alternative name(s):
Leprecan-like protein 2
Protein B
Gene namesi
Name:LEPREL2
Synonyms:P3H3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:19318. LEPREL2.

Subcellular locationi

  • Endoplasmic reticulum PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134890414.

Chemistry

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

Polymorphism and mutation databases

BioMutaiLEPREL2.
DMDMi74714366.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 736716Prolyl 3-hydroxylase 3PRO_0000240360Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi331 – 3311N-linked (GlcNAc...)Sequence Analysis
Glycosylationi462 – 4621N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8IVL6.
PRIDEiQ8IVL6.

PTM databases

PhosphoSiteiQ8IVL6.

Expressioni

Tissue specificityi

Weak expression in heart, lung, ovary and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ8IVL6.
CleanExiHS_LEPREL2.
GenevisibleiQ8IVL6. HS.

Interactioni

Protein-protein interaction databases

BioGridi115790. 10 interactions.
STRINGi9606.ENSP00000379951.

Structurei

3D structure databases

ProteinModelPortaliQ8IVL6.
SMRiQ8IVL6. Positions 218-244, 322-358.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati37 – 7034TPR 1Add
BLAST
Repeati154 – 18734TPR 2Add
BLAST
Repeati216 – 24934TPR 3Add
BLAST
Repeati316 – 34934TPR 4Add
BLAST
Domaini561 – 675115Fe2OG dioxygenasePROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili681 – 70929Sequence AnalysisAdd
BLAST

Motif

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

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi173 – 1775Poly-Ala
Compositional biasi267 – 2704Poly-Glu
Compositional biasi696 – 7049Poly-Glu

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

GeneTreeiENSGT00550000074573.
HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL6.
OMAiRAYYQLK.
PhylomeDBiQ8IVL6.

Family and domain databases

Gene3Di1.25.40.10. 3 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]
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: Q8IVL6-1) [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
MLRLLRPLLL LLLLPPPGSP EPPGLTQLSP GAPPQAPDLL YADGLRAYAA
60 70 80 90 100
GAWAPAVALL REALRSQAAL GRVRLDCGAS CAADPGAALP AVLLGAPEPD
110 120 130 140 150
SGPGPTQGSW ERQLLRAALR RADCLTQCAA RRLGPGGAAR LRVGSALRDA
160 170 180 190 200
FRRREPYNYL QRAYYQLKKL DLAAAAAHTF FVANPMHLQM REDMAKYRRM
210 220 230 240 250
SGVRPQSFRD LETPPHWAAY DTGLELLGRQ EAGLALPRLE EALQGSLAQM
260 270 280 290 300
ESCRADCEGP EEQQGAEEEE DGAASQGGLY EAIAGHWIQV LQCRQRCVGE
310 320 330 340 350
TATRPGRSFP VPDFLPNQLR RLHEAHAQVG NLSQAIENVL SVLLFYPEDE
360 370 380 390 400
AAKRALNQYQ AQLGEPRPGL GPREDIQRFI LRSLGEKRQL YYAMEHLGTS
410 420 430 440 450
FKDPDPWTPA ALIPEALREK LREDQEKRPW DHEPVKPKPL TYWKDVLLLE
460 470 480 490 500
GVTLTQDSRQ LNGSERAVLD GLLTPAECGV LLQLAKDAAG AGARSGYRGR
510 520 530 540 550
RSPHTPHERF EGLTVLKAAQ LARAGTVGSQ GAKLLLEVSE RVRTLTQAYF
560 570 580 590 600
SPERPLHLSF THLVCRSAIE GEQEQRMDLS HPVHADNCVL DPDTGECWRE
610 620 630 640 650
PPAYTYRDYS GLLYLNDDFQ GGDLFFTEPN ALTVTARVRP RCGRLVAFSS
660 670 680 690 700
GVENPHGVWA VTRGRRCALA LWHTWAPEHR EQEWIEAKEL LQESQEEEEE
710 720 730
EEEEMPSKDP SPEPPSRRHQ RVQDKTGRAP RVREEL
Length:736
Mass (Da):81,837
Last modified:March 1, 2003 - v1
Checksum:i82526D30C9788369
GO
Isoform 2 (identifier: Q8IVL6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.

Note: No experimental confirmation available.
Show »
Length:551
Mass (Da):62,295
Checksum:i1CAA483E15659886
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 824ASCA → RTRG in AAH67251 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti301 – 3011T → A.1 Publication
Corresponds to variant rs10744716 [ dbSNP | Ensembl ].
VAR_050443
Natural varianti304 – 3041R → C.
Corresponds to variant rs35359746 [ dbSNP | Ensembl ].
VAR_050444
Natural varianti385 – 3851G → E.
Corresponds to variant rs1047771 [ dbSNP | Ensembl ].
VAR_050445
Natural varianti685 – 6851I → T.1 Publication
Corresponds to variant rs1129649 [ dbSNP | Ensembl ].
VAR_050446
Natural varianti705 – 7051M → T.
Corresponds to variant rs3213431 [ dbSNP | Ensembl ].
VAR_050447

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 185185Missing in isoform 2. 1 PublicationVSP_019352Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51312.1.
U47926 mRNA. Translation: AAC50464.1.
AJ430349 mRNA. Translation: CAD23037.1.
BC017217 mRNA. Translation: AAH17217.2.
BC067251 mRNA. Translation: AAH67251.1.
BC080630 mRNA. Translation: AAH80630.1.
CCDSiCCDS61027.1. [Q8IVL6-1]
RefSeqiNP_055077.2. NM_014262.4. [Q8IVL6-1]
UniGeneiHs.631655.

Genome annotation databases

EnsembliENST00000290510; ENSP00000478600; ENSG00000110811.
GeneIDi10536.
KEGGihsa:10536.
UCSCiuc001qra.1. human. [Q8IVL6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U47924 Genomic DNA. Translation: AAB51312.1.
U47926 mRNA. Translation: AAC50464.1.
AJ430349 mRNA. Translation: CAD23037.1.
BC017217 mRNA. Translation: AAH17217.2.
BC067251 mRNA. Translation: AAH67251.1.
BC080630 mRNA. Translation: AAH80630.1.
CCDSiCCDS61027.1. [Q8IVL6-1]
RefSeqiNP_055077.2. NM_014262.4. [Q8IVL6-1]
UniGeneiHs.631655.

3D structure databases

ProteinModelPortaliQ8IVL6.
SMRiQ8IVL6. Positions 218-244, 322-358.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115790. 10 interactions.
STRINGi9606.ENSP00000379951.

Chemistry

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

PTM databases

PhosphoSiteiQ8IVL6.

Polymorphism and mutation databases

BioMutaiLEPREL2.
DMDMi74714366.

Proteomic databases

MaxQBiQ8IVL6.
PRIDEiQ8IVL6.

Protocols and materials databases

DNASUi10536.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290510; ENSP00000478600; ENSG00000110811.
GeneIDi10536.
KEGGihsa:10536.
UCSCiuc001qra.1. human. [Q8IVL6-1]

Organism-specific databases

CTDi10536.
GeneCardsiGC12P007134.
HGNCiHGNC:19318. LEPREL2.
MIMi610342. gene.
neXtProtiNX_Q8IVL6.
PharmGKBiPA134890414.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00550000074573.
HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL6.
OMAiRAYYQLK.
PhylomeDBiQ8IVL6.

Enzyme and pathway databases

BRENDAi1.14.11.28. 2681.
1.14.11.7. 2681.
ReactomeiREACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

ChiTaRSiLEPREL2. human.
GeneWikiiLEPREL2.
GenomeRNAii10536.
NextBioi39973.
PROiQ8IVL6.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVL6.
CleanExiHS_LEPREL2.
GenevisibleiQ8IVL6. HS.

Family and domain databases

Gene3Di1.25.40.10. 3 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]
PROSITEiPS00014. ER_TARGET. 1 hit.
PS51471. FE2OG_OXY. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A gene-rich cluster between the CD4 and triosephosphate isomerase genes at human chromosome 12p13."
    Ansari-Lari M.A., Muzny D.M., Lu J., Lu F., Lilley C.E., Spanos S., Malley T., Gibbs R.A.
    Genome Res. 6:314-326(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), TISSUE SPECIFICITY, VARIANT ALA-301.
    Tissue: Fibrosarcoma.
  2. "Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination."
    Ansari-Lari M.A., Shen Y., Muzny D.M., Lee W., Gibbs R.A.
    Genome Res. 7:268-280(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "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).
  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] OF 54-736 (ISOFORM 1), VARIANT THR-685.
    Tissue: Eye and Uterus.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiP3H3_HUMAN
AccessioniPrimary (citable) accession number: Q8IVL6
Secondary accession number(s): Q13512
, Q15740, Q66K32, Q6NX61, Q7L2T1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: March 1, 2003
Last modified: July 22, 2015
This is version 110 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 12
    Human chromosome 12: 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

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 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.