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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

LEPREL1 Gene

protein-coding GIFtS: 54
GCID: GC03M189674

leprecan-like 1

Explore 20 diseases affiliated with
LEPREL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Leprecan-Like 1¹ ²		FLJ10718¹
MLAT4¹ ² ³		MCVD²
P3H2¹ ² ³		Prolyl 3-Hydroxylase 2²
Myxoid Liposarcoma-Associated Protein 4² ³		Prolyl 3-Hydroxylase 3²
EC 1.14.11.7³ ⁸		Leprecan-Like Protein 1³

External Ids:	HGNC: 19317¹	Entrez Gene: 55214²	Ensembl: ENSG00000090530⁷	OMIM: 610341⁵	UniProtKB: Q8IVL5³

Export aliases for LEPREL1 gene to outside databases

Previous GC identifers: GC03M190996 GC03M191157 GC03M187072

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for LEPREL1:

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These

enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational

3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with

cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer.

Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by

RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5

Function: 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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the LEPREL1 gene promoter:
E2F-3a E2F-1 E2F FOXD3 E2F-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: LEPREL1 promoter sequence

Search SABiosciences Chromatin IP Primers for LEPREL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LEPREL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q28 Ensembl cytogenetic band: 3q28 HGNC cytogenetic band: 3q29

LEPREL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEPREL1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M189674: view genomic region (about GC identifiers)

Start:	189,674,517 bp from pter	End:	189,840,226 bp from pter
Size:	165,710 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5 (See protein sequence)

Recommended Name: Prolyl 3-hydroxylase 2 precursor

Size: 708 amino acids; 80984 Da

Cofactor: Iron (By similarity)

Cofactor: Ascorbate (By similarity)

Subcellular location: Endoplasmic reticulum. Golgi apparatus

Sequence caution: Sequence=BAA91769.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: B3KWI9 Q9NVI2

Explore the universe of human proteins at neXtProt for LEPREL1: NX_Q8IVL5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IVL5

4/6 DME Specific Peptides for LEPREL1 (Q8IVL5) (see all 6)

ALWFTLDP

CEGPQRFEE

VRSDFQRRVPY

QLNGTQRVLLDNV

LEPREL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001127890.1 NP_060662.2

ENSEMBL proteins:

ENSP00000316881 ENSP00000408947 ENSP00000391374 ENSP00000394326

Reactome Protein details: Q8IVL5
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for LEPREL1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005604	basement membrane	ISS	--
GO:0005783	endoplasmic reticulum	IDA	15063763
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005794	Golgi apparatus	IDA	15063763

LEPREL1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for LEPREL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

LEPREL1 for domains About GeneDecksing

4 InterPro domains/families:

IPR006620 Pro_4_hyd_alph

IPR011990 TPR-like_helical

IPR005123 Oxoglu/Fe-dep_dioxygenase

IPR013105 TPR_2

Graphical View of Domain Structure for InterPro Entry Q8IVL5

ProtoNet protein and cluster: Q8IVL5

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5

Similarity: Belongs to the leprecan family

Similarity: Contains 1 Fe2OG dioxygenase domain

Similarity: Contains 4 TPR repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5

Function: 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 activity: L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] +

succinate + CO(2)

Enzyme Number (IUBMB): EC 1.14.11.7¹ ²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LEPREL1
		8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate LEPREL1 (see all 22):
		hsa-miR-15a hsa-miR-103a hsa-miR-424 hsa-miR-649 hsa-miR-204 hsa-miR-2115 hsa-miR-199b-5p hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: LEPREL1 3' UTR sequence

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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for LEPREL1

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		Search LifeMap BioReagents cell lines for LEPREL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPREL1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005506	iron ion binding	IEA	--
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	--
GO:0016706	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	--	--
GO:0019797	procollagen-proline 3-dioxygenase activity	IDA	18487197
GO:0031418	L-ascorbic acid binding	IEA	--

LEPREL1 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Collagen formation

	Collagen formation	1.00			Extracellular matrix organization	0.54
	Collagen biosynthesis and modifying enzymes	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for LEPREL1

	Extracellular matrix organization
	Collagen biosynthesis and modifying enzymes
	Collagen formation

LEPREL1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for LEPREL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/7 Interacting proteins for LEPREL1 (ENSP00000316881⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
COL3A1	ENSP00000304408⁴	STRING: ENSP00000304408
GPR162	ENSP00000311528⁴	STRING: ENSP00000311528
LEPRE1	ENSP00000296388⁴	STRING: ENSP00000296388
P4HB	ENSP00000327801⁴	STRING: ENSP00000327801
COL10A1	ENSP00000243222⁴	STRING: ENSP00000243222

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008285	negative regulation of cell proliferation	IDA	19436308
GO:0019511	peptidyl-proline hydroxylation	IDA	18487197
GO:0030198	extracellular matrix organization	TAS	--
GO:0032963	collagen metabolic process	IDA	18487197

LEPREL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for LEPREL1

5 HMDB Compounds for LEPREL1 About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Hydroxy-L-proline	Procollagen trans-3-hydroxy-L-proline	4298-08-2	--
Ascorbic acid	(+)-ascorbate (see all 140)	50-81-7	--
Iron	Armco iron (see all 19)	7439-89-6	--
L-Proline	(-)-(S)-Proline (see all 16)	147-85-3	--
Succinic acid	1,2-Ethanedicarboxylate (see all 11)	110-15-6	--

3 DrugBank Compounds for LEPREL1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Proline	(-)-2-Pyrrolidinecarboxylic acid (see all 6)	147-85-3	target	--	17139284 17016423
Succinic acid	1,2-Ethanedicarboxylic acid (see all 8)	110-15-6	target	--	17139284 17016423
Vitamin C	Ascorbate (see all 6)	50-81-7	target	--	17139284 17016423

Search CenterWatch for drugs/clinical trials and news about LEPREL1 / P3H2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for LEPREL1 gene (2 alternative transcripts):

NM_001134418.1 NM_018192.3

Unigene Cluster for LEPREL1:

Leprecan-like 1

Hs.374191 [show with all ESTs]

Unigene Representative Sequence: NM_018192

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000319332(uc011bsk.2) ENST00000427335(uc003fsg.3) ENST00000490940

ENST00000463171 ENST00000467131 ENST00000482780 ENST00000470925 ENST00000475095

ENST00000444866 ENST00000426003

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		8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate LEPREL1 (see all 22):
		hsa-miR-15a hsa-miR-103a hsa-miR-424 hsa-miR-649 hsa-miR-204 hsa-miR-2115 hsa-miR-199b-5p hsa-miR-195

		SwitchGear 3'UTR luciferase reporter plasmid: LEPREL1 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LEPREL1

Additional cDNA sequence:

AJ430351.2 AK001580.1 AK056447.1 AK125134.1 BC005029.1

12 DOTS entries:

DT.100773289 DT.213835 DT.95162783 DT.100773292 DT.120851735 DT.120851770 DT.120851793 DT.75182751

DT.91755115 DT.91919633 DT.95162781 DT.91769263

24/142 AceView cDNA sequences (see all 142):

CN481742 BM700085 AI682643 CA489854 AI969804 BE350132 CA448351 BF434223

CA429435 AA565111 CA433550 R27530 AU123843 BU540640 AK125134 BU737886

BM990732 AW298039 AI343916 AI802673 AW135812 CD671820 BM806128 BU621129

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

LEPREL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCAGGTTGC

About this image

LEPREL1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Respiratory Bronchioles

Lung

Lung

Neural Ectoderm

Heart

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Primitive streak-like cells (Generation of endode...)

Definitive endoderm-like cells (A scalable, suspensi...)

See LEPREL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for LEPREL1

SOURCE GeneReport for Unigene cluster: Hs.374191

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5

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

SABiosciences Custom PCR Arrays for LEPREL1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LEPREL1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEPREL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for LEPREL1 gene from 3/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LEPREL1¹	leprecan-like 1	73.43(n) 75.94(a)		414143 NM_001001530.1 NP_001001530.1
lizard (Anolis carolinensis)	Reptilia	LEPREL1⁶	--	69(a)	1 ↔ 1	GL343386.1(126045-154027)
zebrafish (Danio rerio)	Actinopterygii	LOC566697¹	novel protein similar to vertebrate leprecan-like 1 more	60.77(n) 59.46(a)		566697 XM_003201065.1 XP_003201113.1

ENSEMBL Gene Tree for LEPREL1 (if available)
TreeFam Gene Tree for LEPREL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for LEPREL1 gene

LEPRE1² CRTAP² LEPREL2² LEPREL4²

4 SIMAP similar genes for LEPREL1 using alignment to 5 protein entries: P3H2_HUMAN (see all proteins):

DKFZp547C166 LEPRE1 LEPREL2 CRTAP

LEPREL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs17456243^1,2	C,F,	--	187072202(+)	`CCCACG/AGGCGA`	2	--	ds500¹		4		NA	262
rs73890121^1,2	C,F,	--	187072441(+)	`TGTAAT/CTACAA`	2	--	ds500¹		3		WA CSA	122
rs9290911^1,2	C,F,H,	--	187072469(+)	`AAAGCA/GAACAT`	2	--	ds500¹		27		EA NS NA CSA WA	2406
rs79728655^1,2	F,	--	187072553(+)	`ATCTGT/CGTGCT`	2	--	ut3¹		1		WA	118
rs1807799^1,2	H,	--	187073003(+)	`ACTCTG/ACCAGG`	2	--	ut3¹		5		MN EA NS NA	602
rs113055994^1,2		--	187073062(+)	`GGCCGC/TTAGCA`	2	--	ut3¹		1		CSA	2
rs12494299^1,2	C,F,H	--	187073151(+)	`CACGTG/AAGAGT`	2	--	ut3¹ ese³		4		EA NS NA	304
rs10524880^1,2	C	--	187074471(+)	`CCCTC-/TTTTT TTTTTTTTTTTT`	2	--	int¹		0	--	--	--	--
rs111907824^1,2		--	187074728(+)	`CAGGAG/CTGAGC`	2	--	int¹		1		CSA	2
rs7653161^1,2	A	--	187075022(+)	`tatttA/Tttatt`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for LEPREL1 (189674517 - 189840226 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 20 variations for LEPREL1
13 CNVs: 7393 59118 32542 44098 31131 63684 98569 80048 91769 59117 80047 62137 1658
7 Indels: 51040 51039 91770 11220 63685 80050 80049
Human Gene Mutation Database (HGMD): LEPREL1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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LEPREL1 for disorders About GeneDecksing

OMIM gene information: 610341 OMIM disorders: --

UniProtKB/Swiss-Prot: P3H2_HUMAN, Q8IVL5

Defects in LEPREL1 are the cause of myopia high with cataract and vitreoretinal degeneration (MCVD)

[MIM:614292]. A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal

degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment

20 diseases for LEPREL1: About MalaCards

vitreoretinal degeneration myxoid liposarcoma myopia liposarcoma

breast cancer lens subluxation cataract pleural empyema

scarlet fever otitis media pyelonephritis retinal detachment

acute pyelonephritis lymphadenitis cellulitis bronchitis

tonsillitis meningitis retinitis pneumonia

Human Genome Epidemiology (HuGE) Navigator: LEPREL1 (2 documents)

Export disorders for LEPREL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for LEPREL1 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with LEPREL1)

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High myopia caused by a mutation in LEPREL1, encoding prolyl 3- hydroxylase 2. (PubMed id 21885030)^{1, 2, 3} Mordechai S.... Birk O.S. (2011)
LEPREL1, a novel ER and Golgi resident member of the Leprecan family. (PubMed id 15063763)^{1, 2, 3} Jaernum S....Aaman P. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Identification of genes differentially expressed in TLS-CHOP carrying myxoid liposarcomas. (PubMed id 10449603)^{1, 2} Thelin-Jaernum S.... Aaman P. (1999)
The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer. (PubMed id 19436308)^{1, 9} Shah R....Crook T. (2009)
A role for prolyl 3-hydroxylase 2 in post-translation al modification of fibril-forming collagens. (PubMed id 21757687)¹ Fernandes R.J....Eyre D.R. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV. (PubMed id 18487197)¹ Tiainen P....Myllyharju J. (2008)
Molecular genetics of successful smoking cessation: convergent genome-wide association study results. (PubMed id 18519826)¹ Uhl G.R....Lerman C. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55214	HGNC: 19317	AceView: LEPREL1	Ensembl:ENSG00000090530	euGenes: HUgn55214
ECgene: LEPREL1	H-InvDB: LEPREL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for LEPREL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for LEPREL1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for LEPREL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for LEPREL1 gene:
Search GeneIP for patents involving LEPREL1

GeneCards and IP:
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