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Q8IVL6

- P3H3_HUMAN

UniProt

Q8IVL6 - P3H3_HUMAN

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Protein

Prolyl 3-hydroxylase 3

Gene
LEPREL2, P3H3
Organism
Homo sapiens (Human)
Status
Reviewed - 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

Iron By similarity.
Ascorbate By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi584 – 5841Iron
Metal bindingi586 – 5861Iron
Metal bindingi656 – 6561Iron
Active sitei666 – 6661 By similarity

GO - Molecular functioni

  1. iron ion binding Source: InterPro
  2. L-ascorbic acid binding Source: UniProtKB-KW
  3. procollagen-proline 3-dioxygenase activity Source: UniProtKB-EC

GO - Biological processi

  1. extracellular matrix organization Source: Reactome
  2. negative regulation of cell proliferation 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 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: Chromosome 12

Organism-specific databases

HGNCiHGNC:19318. LEPREL2.

Subcellular locationi

Endoplasmic reticulum By similarity

GO - Cellular componenti

  1. endoplasmic reticulum lumen Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134890414.

PTM / Processingi

Molecule processing

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

Amino acid modifications

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

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

ArrayExpressiQ8IVL6.
BgeeiQ8IVL6.
CleanExiHS_LEPREL2.
GenevestigatoriQ8IVL6.

Interactioni

Protein-protein interaction databases

BioGridi115790. 1 interaction.
STRINGi9606.ENSP00000311528.

Structurei

3D structure databases

ProteinModelPortaliQ8IVL6.
SMRiQ8IVL6. Positions 37-65.

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 dioxygenaseAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili681 – 70929 Reviewed predictionAdd
BLAST

Motif

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

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.
Contains 4 TPR repeats.

Keywords - Domaini

Coiled coil, Repeat, Signal, TPR repeat

Phylogenomic databases

HOGENOMiHOG000231087.
HOVERGENiHBG053224.
InParanoidiQ8IVL6.
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.
[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. Align

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

MLRLLRPLLL LLLLPPPGSP EPPGLTQLSP GAPPQAPDLL YADGLRAYAA    50
GAWAPAVALL REALRSQAAL GRVRLDCGAS CAADPGAALP AVLLGAPEPD 100
SGPGPTQGSW ERQLLRAALR RADCLTQCAA RRLGPGGAAR LRVGSALRDA 150
FRRREPYNYL QRAYYQLKKL DLAAAAAHTF FVANPMHLQM REDMAKYRRM 200
SGVRPQSFRD LETPPHWAAY DTGLELLGRQ EAGLALPRLE EALQGSLAQM 250
ESCRADCEGP EEQQGAEEEE DGAASQGGLY EAIAGHWIQV LQCRQRCVGE 300
TATRPGRSFP VPDFLPNQLR RLHEAHAQVG NLSQAIENVL SVLLFYPEDE 350
AAKRALNQYQ AQLGEPRPGL GPREDIQRFI LRSLGEKRQL YYAMEHLGTS 400
FKDPDPWTPA ALIPEALREK LREDQEKRPW DHEPVKPKPL TYWKDVLLLE 450
GVTLTQDSRQ LNGSERAVLD GLLTPAECGV LLQLAKDAAG AGARSGYRGR 500
RSPHTPHERF EGLTVLKAAQ LARAGTVGSQ GAKLLLEVSE RVRTLTQAYF 550
SPERPLHLSF THLVCRSAIE GEQEQRMDLS HPVHADNCVL DPDTGECWRE 600
PPAYTYRDYS GLLYLNDDFQ GGDLFFTEPN ALTVTARVRP RCGRLVAFSS 650
GVENPHGVWA VTRGRRCALA LWHTWAPEHR EQEWIEAKEL LQESQEEEEE 700
EEEEMPSKDP SPEPPSRRHQ RVQDKTGRAP RVREEL 736
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

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. VSP_019352Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti79 – 824ASCA → RTRG in AAH67251. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000251761; ENSP00000475896; ENSG00000110811. [Q8IVL6-2]
ENST00000598308; ENSP00000476121; ENSG00000268828. [Q8IVL6-2]
GeneIDi10536.
KEGGihsa:10536.
UCSCiuc001qra.1. human. [Q8IVL6-1]

Polymorphism databases

DMDMi74714366.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS61027.1. [Q8IVL6-1 ]
RefSeqi NP_055077.2. NM_014262.4. [Q8IVL6-1 ]
UniGenei Hs.631655.

3D structure databases

ProteinModelPortali Q8IVL6.
SMRi Q8IVL6. Positions 37-65.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115790. 1 interaction.
STRINGi 9606.ENSP00000311528.

Chemistry

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

PTM databases

PhosphoSitei Q8IVL6.

Polymorphism databases

DMDMi 74714366.

Proteomic databases

MaxQBi Q8IVL6.
PRIDEi Q8IVL6.

Protocols and materials databases

DNASUi 10536.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000251761 ; ENSP00000475896 ; ENSG00000110811 . [Q8IVL6-2 ]
ENST00000598308 ; ENSP00000476121 ; ENSG00000268828 . [Q8IVL6-2 ]
GeneIDi 10536.
KEGGi hsa:10536.
UCSCi uc001qra.1. human. [Q8IVL6-1 ]

Organism-specific databases

CTDi 10536.
GeneCardsi GC12P007107.
HGNCi HGNC:19318. LEPREL2.
MIMi 610342. gene.
neXtProti NX_Q8IVL6.
PharmGKBi PA134890414.
GenAtlasi Search...

Phylogenomic databases

HOGENOMi HOG000231087.
HOVERGENi HBG053224.
InParanoidi Q8IVL6.
PhylomeDBi Q8IVL6.

Enzyme and pathway databases

Reactomei REACT_121139. Collagen biosynthesis and modifying enzymes.

Miscellaneous databases

GeneWikii LEPREL2.
GenomeRNAii 10536.
NextBioi 39973.
PROi Q8IVL6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8IVL6.
Bgeei Q8IVL6.
CleanExi HS_LEPREL2.
Genevestigatori Q8IVL6.

Family and domain databases

Gene3Di 1.25.40.10. 3 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. "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: September 3, 2014
This is version 100 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

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