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Q8IVL6 (P3H3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 99. 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 3

EC=1.14.11.7
Alternative name(s):
Leprecan-like protein 2
Protein B
Gene names
Name:LEPREL2
Synonyms:P3H3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length736 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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 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 By similarity.

Tissue specificity

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

Sequence similarities

Belongs to the leprecan family.

Contains 1 Fe2OG dioxygenase domain.

Contains 4 TPR repeats.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IVL6-1)

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: Q8IVL6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-185: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 736716Prolyl 3-hydroxylase 3
PRO_0000240360

Regions

Repeat37 – 7034TPR 1
Repeat154 – 18734TPR 2
Repeat216 – 24934TPR 3
Repeat316 – 34934TPR 4
Domain561 – 675115Fe2OG dioxygenase
Coiled coil681 – 70929 Potential
Motif733 – 7364Prevents secretion from ER Potential
Compositional bias173 – 1775Poly-Ala
Compositional bias267 – 2704Poly-Glu
Compositional bias696 – 7049Poly-Glu

Sites

Active site6661 By similarity
Metal binding5841Iron
Metal binding5861Iron
Metal binding6561Iron

Amino acid modifications

Glycosylation3311N-linked (GlcNAc...) Potential
Glycosylation4621N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 185185Missing in isoform 2.
VSP_019352
Natural variant3011T → A. Ref.1
Corresponds to variant rs10744716 [ dbSNP | Ensembl ].
VAR_050443
Natural variant3041R → C.
Corresponds to variant rs35359746 [ dbSNP | Ensembl ].
VAR_050444
Natural variant3851G → E.
Corresponds to variant rs1047771 [ dbSNP | Ensembl ].
VAR_050445
Natural variant6851I → T. Ref.4
Corresponds to variant rs1129649 [ dbSNP | Ensembl ].
VAR_050446
Natural variant7051M → T.
Corresponds to variant rs3213431 [ dbSNP | Ensembl ].
VAR_050447

Experimental info

Sequence conflict79 – 824ASCA → RTRG in AAH67251. Ref.4

Sequences

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

Last modified March 1, 2003. Version 1.
Checksum: 82526D30C9788369

FASTA73681,837
        10         20         30         40         50         60 
MLRLLRPLLL LLLLPPPGSP EPPGLTQLSP GAPPQAPDLL YADGLRAYAA GAWAPAVALL 

        70         80         90        100        110        120 
REALRSQAAL GRVRLDCGAS CAADPGAALP AVLLGAPEPD SGPGPTQGSW ERQLLRAALR 

       130        140        150        160        170        180 
RADCLTQCAA RRLGPGGAAR LRVGSALRDA FRRREPYNYL QRAYYQLKKL DLAAAAAHTF 

       190        200        210        220        230        240 
FVANPMHLQM REDMAKYRRM SGVRPQSFRD LETPPHWAAY DTGLELLGRQ EAGLALPRLE 

       250        260        270        280        290        300 
EALQGSLAQM ESCRADCEGP EEQQGAEEEE DGAASQGGLY EAIAGHWIQV LQCRQRCVGE 

       310        320        330        340        350        360 
TATRPGRSFP VPDFLPNQLR RLHEAHAQVG NLSQAIENVL SVLLFYPEDE AAKRALNQYQ 

       370        380        390        400        410        420 
AQLGEPRPGL GPREDIQRFI LRSLGEKRQL YYAMEHLGTS FKDPDPWTPA ALIPEALREK 

       430        440        450        460        470        480 
LREDQEKRPW DHEPVKPKPL TYWKDVLLLE GVTLTQDSRQ LNGSERAVLD GLLTPAECGV 

       490        500        510        520        530        540 
LLQLAKDAAG AGARSGYRGR RSPHTPHERF EGLTVLKAAQ LARAGTVGSQ GAKLLLEVSE 

       550        560        570        580        590        600 
RVRTLTQAYF SPERPLHLSF THLVCRSAIE GEQEQRMDLS HPVHADNCVL DPDTGECWRE 

       610        620        630        640        650        660 
PPAYTYRDYS GLLYLNDDFQ GGDLFFTEPN ALTVTARVRP RCGRLVAFSS GVENPHGVWA 

       670        680        690        700        710        720 
VTRGRRCALA LWHTWAPEHR EQEWIEAKEL LQESQEEEEE EEEEMPSKDP SPEPPSRRHQ 

       730 
RVQDKTGRAP RVREEL 

« Hide

Isoform 2 [UniParc].

Checksum: 1CAA483E15659886
Show »

FASTA55162,295

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS61027.1. [Q8IVL6-1]
RefSeqNP_055077.2. NM_014262.4. [Q8IVL6-1]
UniGeneHs.631655.

3D structure databases

ProteinModelPortalQ8IVL6.
SMRQ8IVL6. Positions 37-65.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115790. 1 interaction.
STRING9606.ENSP00000311528.

Chemistry

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

PTM databases

PhosphoSiteQ8IVL6.

Polymorphism databases

DMDM74714366.

Proteomic databases

MaxQBQ8IVL6.
PRIDEQ8IVL6.

Protocols and materials databases

DNASU10536.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251761; ENSP00000475896; ENSG00000110811. [Q8IVL6-2]
ENST00000598308; ENSP00000476121; ENSG00000268828. [Q8IVL6-2]
GeneID10536.
KEGGhsa:10536.
UCSCuc001qra.1. human. [Q8IVL6-1]

Organism-specific databases

CTD10536.
GeneCardsGC12P007107.
HGNCHGNC:19318. LEPREL2.
MIM610342. gene.
neXtProtNX_Q8IVL6.
PharmGKBPA134890414.
GenAtlasSearch...

Phylogenomic databases

HOGENOMHOG000231087.
HOVERGENHBG053224.
InParanoidQ8IVL6.
PhylomeDBQ8IVL6.

Enzyme and pathway databases

ReactomeREACT_118779. Extracellular matrix organization.

Gene expression databases

ArrayExpressQ8IVL6.
BgeeQ8IVL6.
CleanExHS_LEPREL2.
GenevestigatorQ8IVL6.

Family and domain databases

Gene3D1.25.40.10. 3 hits.
InterProIPR005123. Oxoglu/Fe-dep_dioxygenase.
IPR006620. Pro_4_hyd_alph.
IPR011990. TPR-like_helical.
[Graphical view]
PfamPF13640. 2OG-FeII_Oxy_3. 1 hit.
[Graphical view]
SMARTSM00702. P4Hc. 1 hit.
[Graphical view]
PROSITEPS00014. ER_TARGET. 1 hit.
PS51471. FE2OG_OXY. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiLEPREL2.
GenomeRNAi10536.
NextBio39973.
PROQ8IVL6.
SOURCESearch...

Entry information

Entry nameP3H3_HUMAN
AccessionPrimary (citable) accession number: Q8IVL6
Secondary accession number(s): Q13512 expand/collapse secondary AC list , Q15740, Q66K32, Q6NX61, Q7L2T1
Entry history
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 99 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 12

Human chromosome 12: entries, gene names and cross-references to MIM