Prolyl 3-hydroxylase 2 precursor - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Prolyl 3-hydroxylase 2
    EC=1.14.11.7
Alternative name(s):
    Leprecan-like protein 1
    Myxoid liposarcoma-associated protein 4

Gene names

Name:	LEPREL1
Synonyms:	MLAT4, P3H2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	708 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at transcript level.

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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	Procollagen L-proline + 2-oxoglutarate + O₂ = procollagen trans-3-hydroxy-L-proline + succinate + CO₂.
Cofactor	Iron By similarity. Ascorbate By similarity.
Subcellular location	Endoplasmic reticulum. Golgi apparatus. Ref.2
Tissue specificity	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. Ref.2
Sequence similarities	Belongs to the leprecan family. Contains 1 PKHD (prolyl/lysyl hydroxylase) domain. Contains 4 TPR repeats.

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Ontologies

Keywords
Cellular component	Endoplasmic reticulum Golgi apparatus
Coding sequence diversity	Polymorphism
Domain	Repeat Signal TPR repeat
Ligand	Iron Metal-binding Vitamin C
Molecular function	Dioxygenase Oxidoreductase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	Golgi apparatus Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	L-ascorbic acid binding Inferred from electronic annotation. Source: UniProtKB-KW iron ion binding Inferred from electronic annotation. Source: UniProtKB-KW oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen Inferred from electronic annotation. Source: UniProtKB-KW procollagen-proline 3-dioxygenase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 24

24

Potential

Chain

25 – 708

684

Prolyl 3-hydroxylase 2

PRO_0000240356

Regions

Repeat

44 – 77

34

TPR 1

Repeat

148 – 181

34

TPR 2

Repeat

210 – 243

34

TPR 3

Repeat

306 – 339

34

TPR 4

Domain

462 – 670

209

PKHD

Motif

705 – 708

4

Prevents secretion from ER Potential

Compositional bias

93 – 99

7

Poly-Pro

Sites

Active site

662

1

By similarity

Metal binding

580

1

Iron

Metal binding

582

1

Iron

Metal binding

652

1

Iron

Amino acid modifications

Glycosylation

449

1

N-linked (GlcNAc...) Potential

Glycosylation

549

1

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

613

1

D → N in a breast cancer sample; somatic mutation. Ref.5

VAR_036123

Experimental info

Sequence conflict

477

1

R → Q Ref.2

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Sequences

Sequence

Length

Mass (Da)

Tools

Q8IVL5-1 [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: B9E680C90D607291
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FASTA

708

80,984

        10         20         30         40         50         60 
MRERIWAPPL LLLLPLLLPP PLWGGPPDSP RRELELEPGP LQPFDLLYAS GAAAYYSGDY 

        70         80         90        100        110        120 
ERAVRDLEAA LRSHRRLREI RTRCARHCAA RHPLPPPPPG EGPGAELPLF RSLLGRARCY 

       130        140        150        160        170        180 
RSCETQRLGG PASRHRVSED VRSDFQRRVP YNYLQRAYIK LNQLEKAVEA AHTFFVANPE 

       190        200        210        220        230        240 
HMEMQQNIEN YRATAGVEAL QLVDREAKPH MESYNAGVKH YEADDFEMAI RHFEQALREY 

       250        260        270        280        290        300 
FVEDTECRTL CEGPQRFEEY EYLGYKAGLY EAIADHYMQV LVCQHECVRE LATRPGRLSP 

       310        320        330        340        350        360 
IENFLPLHYD YLQFAYYRVG EYVKALECAK AYLLCHPDDE DVLDNVDYYE SLLDDSIDPA 

       370        380        390        400        410        420 
SIEAREDLTM FVKRHKLESE LIKSAAEGLG FSYTEPNYWI RYGGRQDENR VPSGVNVEGA 

       430        440        450        460        470        480 
EVHGFSMGKK LSPKIDRDLR EGGPLLYENI TFVYNSEQLN GTQRVLLDNV LSEEQCRELH 

       490        500        510        520        530        540 
SVASGIMLVG DGYRGKTSPH TPNEKFEGAT VLKALKSGYE GRVPLKSARL FYDISEKARR 

       550        560        570        580        590        600 
IVESYFMLNS TLYFSYTHMV CRTALSGQQD RRNDLSHPIH ADNCLLDPEA NECWKEPPAY 

       610        620        630        640        650        660 
TFRDYSALLY MNDDFEGGEF IFTEMDAKTV TASIKPKCGR MISFSSGGEN PHGVKAVTKG 

       670        680        690        700 
KRCAVALWFT LDPLYRELER IQADEVIAIL DQEQQGKHEL NINPKDEL

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 10449603] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. 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: 15063763] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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. Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Teratocarcinoma.
[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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 161-708. Tissue: Lung.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ASN-613.
+	Additional computationally mapped references.

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Cross-references

Sequence databases
	AJ430351 mRNA. Translation: CAD23039.2. AK001580 mRNA. Translation: BAA91769.1. Different initiation. AK056447 mRNA. No translation available. BC005029 mRNA. Translation: AAH05029.1.
IPI	IPI00217055.
RefSeq	NP_001127890.1. NP_060662.2.
UniGene	Hs.374191 Hs.620002
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q8IVL5.
Genome annotation databases
Ensembl	ENSG00000090530. Homo sapiens. [Contig view]
GeneID	55214.
KEGG	hsa:55214.
Organism-specific databases
GeneCards	GC03M191157.
HGNC	HGNC:19317. LEPREL1.
HPA	HPA007890. HPA013355.
MIM	610341. gene.
PharmGKB	PA134922807.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q8IVL5.
HOVERGEN	Q8IVL5.
OMA	Q8IVL5. LECAKAY.
Enzyme and pathway databases
BRENDA	1.14.11.7. 247.
Gene expression databases
ArrayExpress	Q8IVL5.
Bgee	Q8IVL5.
CleanEx	HS_LEPREL1.
GermOnline	ENSG00000090530. Homo sapiens.
Family and domain databases
InterPro	IPR000886. ER_targeting_sequence. IPR005123. Oxoglutarate/Fe-dep_Oase. IPR006620. Pro_4_hyd_alph. [Graphical view]
Pfam	PF03171. 2OG-FeII_Oxy. 1 hit. [Graphical view]
SMART	SM00702. P4Hc. 1 hit. [Graphical view]
PROSITE	PS00014. ER_TARGET. 1 hit. PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00172. L-Proline. DB00139. Succinic acid. DB00126. Vitamin C.
NextBio	59168.
SOURCE	Search...

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Entry information

Entry name

P3H2_HUMAN

Accession

Primary (citable) accession number: Q8IVL5
Secondary accession number(s): Q9NVI2

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 27, 2006
Last sequence update:	March 1, 2003
Last modified:	June 16, 2009
This is version 49 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents