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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MPPE1 Gene

protein-coding GIFtS: 49
GCID: GC18M012550

metallophosphoesterase 1

Explore 1 disease affiliated with
MPPE1 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
Metallophosphoesterase 1¹ ²
Post-GPI Attachment To Proteins Factor 5² ³
PGAP5² ³
Metallo Phosphoesterase²
EC 3.1.-.-³

External Ids:	HGNC: 15988¹	Entrez Gene: 65258²	Ensembl: ENSG00000154889⁷	OMIM: 611900⁵	UniProtKB: Q53F39³

Export aliases for MPPE1 gene to outside databases

Previous GC identifers: GC18P012145 GC18M011940 GC18M011873 GC18M011883

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

UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39

Function: Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the

Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain

ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient

transport of GPI-anchor proteins

(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_000018.9 NC_018929.1 NT_010859.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MPPE1 gene promoter:
TBP HNF-1 TFIID Bach2 HOXA5 c-Myb HNF-1A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MPPE1 promoter sequence

Search SABiosciences Chromatin IP Primers for MPPE1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPPE1

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

Entrez Gene cytogenetic band: 18p11.21 Ensembl cytogenetic band: 18p11.21 HGNC cytogenetic band: 18p11.21

MPPE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPPE1 gene location

GeneLoc information about chromosome 18 GeneLoc Exon Structure

GeneLoc location for GC18M012550: view genomic region (about GC identifiers)

Start:	11,882,621 bp from pter	End:	11,909,222 bp from pter
Size:	26,602 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: MPPE1_HUMAN, Q53F39 (See protein sequence)

Recommended Name: Metallophosphoesterase 1

Size: 396 amino acids; 45141 Da

Cofactor: Binds 2 manganese ions per subunit (Probable)

Subunit: Interacts with GPI-anchor proteins. Interacts with TMED10

Subcellular location: Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Golgi

apparatus, cis-Golgi network membrane; Multi-pass membrane protein. Note=Also localizes to endoplasmic reticulum exit

site

Sequence caution: Sequence=BAB13863.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAB14378.1; Type=Frameshift; Positions=201;

Secondary accessions: B0YJ39 B0YJ40 B0YJ41 B5ME53 B7WNJ3 D3DUI5 D3DUI7 Q6GMP1 Q8TAD6 Q8TE26 Q8WZ32

Q9BU58 Q9H958 Q9HAI4

Alternative splicing: 5 isoforms: Q53F39-1 Q53F39-2 Q53F39-3 Q53F39-4 Q53F39-5 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MPPE1: NX_Q53F39

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q53F39

MPPE1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001229833.1 NP_075563.3

ENSEMBL proteins:

ENSP00000465894 ENSP00000327257 ENSP00000433950 ENSP00000312935 ENSP00000311200

ENSP00000339423 ENSP00000464842 ENSP00000466291 ENSP00000468606 ENSP00000466303

ENSP00000467993 ENSP00000467698 ENSP00000465318 ENSP00000468639 ENSP00000468065

ENSP00000467703 ENSP00000468269 ENSP00000467599 ENSP00000382860

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Novus Biologicals MPPE1 Protein
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MPPE1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	ISS	--
GO:0005794	Golgi apparatus	IEA	--
GO:0005801	cis-Golgi network	ISS	--
GO:0016021	integral to membrane	IEA	--
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	IEA	--

MPPE1 for ontologies About GeneDecksing

MPPE1 Antibody Products:

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	Uscn Antibodies for MPPE1
	Search ThermoFisher Antibodies for MPPE1

Assay Products for MPPE1:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for MPPE1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MPPE1

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

MPPE1 for domains About GeneDecksing

1 InterPro domain/family:

IPR024654 Calcineurin-like_PEstase_dom

Graphical View of Domain Structure for InterPro Entry Q53F39

ProtoNet protein and cluster: Q53F39

UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39

Domain: The di-lysine motif (KxKxx) acts as an endoplasmic reticulum retrieval signal

Similarity: Belongs to the metallophosphoesterase superfamily. MPPE1 family

(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: MPPE1_HUMAN, Q53F39

Function: Metallophosphoesterase required for transport of GPI-anchor proteins from the endoplasmic reticulum to the

Golgi. Acts in lipid remodeling steps of GPI-anchor maturation by mediating the removal of a side-chain

ethanolamine-phosphate (EtNP) from the second Man (Man2) of the GPI intermediate, an essential step for efficient

transport of GPI-anchor proteins

Enzyme Number (IUBMB): EC 3.1.-.-¹

miRNA Products:		OriGene 3'-UTR Clone: MPPE1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPPE1
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MPPE1 (see all 10):
		hsa-miR-146a hsa-let-7a-2* hsa-miR-570 hsa-miR-3161 hsa-let-7g* hsa-miR-3674 hsa-miR-3662 hsa-miR-589

		SwitchGear 3'UTR luciferase reporter plasmid: MPPE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPPE1 (see all 7) OriGene shRNA RFP: MPPE1 OriGene siRNA: MPPE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPPE1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for MPPE1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPPE1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPPE1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MPPE1 (NM_023075)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPPE1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPPE1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MPPE1
		Search LifeMap BioReagents cell lines for MPPE1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPPE1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008081	phosphoric diester hydrolase activity	ISS	--
GO:0030145	manganese ion binding	ISS	--
GO:0034235	GPI anchor binding	ISS	--

MPPE1 for ontologies About GeneDecksing

Animal Models:
1 MGI phenotypic allele

for Mppe1 (no phenotypes)

MPPE1 for phenotypes 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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MPPE1

5/9 Interacting proteins for MPPE1 (Q53F39³) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CRNKL1	Q9BZJ0³	I2D: score=4
ERH	P84090³	I2D: score=4
INTS10	Q9NVR2³	I2D: score=4
KIFAP3	Q92845³	I2D: score=4
LIPA	P38571³	I2D: score=4

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006506	GPI anchor biosynthetic process	ISS	--
GO:0006888	ER to Golgi vesicle-mediated transport	ISS	--

MPPE1 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 MPPE1
Search CenterWatch for drugs/clinical trials and news about MPPE1

(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 MPPE1 gene (3 alternative transcripts):

NM_138608.2 NM_001242904.1 NM_023075.5

Unigene Cluster for MPPE1:

Metallophosphoesterase 1

Hs.712666 [show with all ESTs]

Unigene Representative Sequence: NR_040243

18/31 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 31):

ENST00000588072 ENST00000317235(uc002kqg.3 uc002kqh.3 uc002kqi.3 uc002kqf.3 uc002kqn.3 uc002kqm.3)

ENST00000496196 ENST00000317251 ENST00000309976(uc010dla.2) ENST00000344987

ENST00000592755 ENST00000592447 ENST00000592306 ENST00000592894 ENST00000587724

ENST00000592977 ENST00000589731 ENST00000592331 ENST00000588186 ENST00000588191

ENST00000589267 ENST00000586364

miRNA Products:		OriGene 3'-UTR Clone: MPPE1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPPE1
		8/10 QIAGEN miScript miRNA Assays for microRNAs that regulate MPPE1 (see all 10):
		hsa-miR-146a hsa-let-7a-2* hsa-miR-570 hsa-miR-3161 hsa-let-7g* hsa-miR-3674 hsa-miR-3662 hsa-miR-589

		SwitchGear 3'UTR luciferase reporter plasmid: MPPE1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPPE1 (see all 7) OriGene shRNA RFP: MPPE1 OriGene siRNA: MPPE1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPPE1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPPE1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPPE1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MPPE1 (NM_023075)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPPE1
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPPE1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPPE1

Additional cDNA sequence:

AF363484.1 AK054639.1 AK223450.1 AK309948.1 AL833636.1 BC002877.2 DQ786245.1 NR_040241.1

NR_040242.1 NR_040243.1

17 DOTS entries:

DT.97845878 DT.112658 DT.97815437 DT.121086715 DT.100823139 DT.92430583 DT.95289650 DT.100823146

DT.97818258 DT.100653720 DT.95188820 DT.100823145 DT.444187 DT.91717413 DT.97845879 DT.100823138

DT.100823147

24/184 AceView cDNA sequences (see all 184):

CR611565 AW293803 BM807059 AI989343 BM709282 AI348585 BP431483 AW969558

BX429291 BQ001785 BX418766 BF507761 BM966916 BU951741 BE218931 BG740732

AI651909 BX092088 AX775855 BU688654 BC002877 CR623066 AX775857 CA489335

GeneLoc Exon Structure

5/25 Alternative Splicing Database (ASD) splice patterns (SP) for MPPE1 (see all 25) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	·	1g	·	1h	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c	·	13d	·
SP1:															-						-		-		-		-		-		-		-		-		-		-		-		-
SP2:															-						-		-		-		-		-		-		-		-		-		-
SP3:															-						-		-		-		-		-		-		-		-		-		-
SP4:															-		-		-		-		-		-		-		-		-		-		-		-		-
SP5:															-		-		-		-		-		-		-		-		-		-		-		-		-

ExUns:	13e	^	14	^	15a	·	15b	^	16a	·	16b	^	17	^	18a	·	18b	^	19	^	20	^	21a	·	21b	^	22a	·	22b	^	23a	·	23b	·	23c	·	23d
SP1:																	-						-				-
SP2:			-														-						-				-
SP3:			-														-						-				-		-
SP4:			-														-		-		-		-				-		-
SP5:			-														-

ECgene alternative splicing isoforms for MPPE1

(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

MPPE1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACGACAGTC

About this image

MPPE1 expression in embryonic tissues and stem cells

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

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Renal Vesicle

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MPPE1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPPE1

SOURCE GeneReport for Unigene cluster: Hs.712666

UniProtKB/Swiss-Prot: MPPE1_HUMAN, Q53F39

Tissue specificity: Expressed in brain

SABiosciences Custom PCR Arrays for MPPE1

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPPE1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPPE1

(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 eukaryotes.

Orthologs for MPPE1 gene from 8/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Mppe1^{1 , 5}	metallophosphoesterase 1^{1, 5}	78.41(n)¹ 75.39(a)¹	18 (39.90 cM)⁵ 225651¹ NM_172630.2¹ NP_766218.1¹ 67225530⁵
chicken (Gallus gallus)	Aves	MPPE1¹	metallophosphoesterase 1	70.53(n) 67.11(a)	421031 NM_001039283.1 NP_001034372.1
zebrafish (Danio rerio)	Actinopterygii	mppe1¹	metallophosphoesterase 1	59.49(n) 56.4(a)	550396 NM_001017701.1 NP_001017701.1
fruit fly (Drosophila melanogaster)	Insecta	CG8455^{1 , 3}	CG8455¹	43(a)³ 51.24(n)¹ 43.92(a)¹	28F1³ 34116¹ NM_135347.2¹ NP_609191.1¹
worm (Caenorhabditis elegans)	Secernentea	B0511.13^{1 , 3}	Protein B0511.13¹	33(a)³ 46.92(n)¹ 39.17(a)¹	I(10641572-10644059)³ 172956¹ NM_060381.3¹ NP_492782.2¹
A. gossypii yeast (Ashbya gossypii)	Saccharomycetes	AGOS_AGL131W¹	AGL131Wp	41.67(n) 27.31(a)	4622835 NM_211598.1 NP_986536.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT1G53710¹	hydrolase/ protein serine/threonine phosphatase	42.59(n) 30.41(a)	841809 NM_104249.2 NP_175775.2
rice (Oryza sativa)	Liliopsida	Os03g0397300¹	hypothetical protein	42.4(n) 32.46(a)	4333043 NM_001056835.1 NP_001050300.1

ENSEMBL Gene Tree for MPPE1 (if available)
TreeFam Gene Tree for MPPE1 (if available)

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

Paralogs for MPPE1 gene

MPPE1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for MPPE1
PGOHUM00000247880 PGOHUM00000246265 PGOHUM00000245532

(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 18 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs16976819^1,2	C,F,H,	--	11886194(+)	`TTTTCA/GGTTCC`	5	--	int¹		9		NA NS EA WA	798
rs1249901^1,2	H	--	11886246(+)	`AATACA/CAAGAA`	5	--	int¹		5		MN NS EA	600
rs34314512^1,2	C	--	11886304(+)	`AAAAA-/AGCGAT`	5	--	int¹		1		NA	2
rs11660268^1,2	H	--	11886342(+)	`TACTGT/AGAAAG`	5	--	int¹		4		NS EA	414
rs76760061^1,2	C	--	11886387(+)	`TAAGTC/GATGAA`	5	--	int¹		0	--	--	--	--
rs183299906^1,2	C,	--	11886464(+)	`CACTGC/TGACAT`	5	--	int¹		0	--	--	--	--
rs145870573^1,2	F	--	11886514(+)	`CCTCCC/TGTGAA`	6	Q R	mis¹ int¹		1		NA	4544
rs139906247^1,2	C,	--	11886515(+)	`CTCCCG/ATGAAA`	6	/R /W	nc-transcript-variantint¹ mis¹		1		NA	4544
rs200578976^1,2		--	11886562(+)	`CCTCTA/GCAGGA`	6	A V	mis¹ int¹		0	--	--	--	--
rs662515^1,2	C,F,A,H,	--	11886563(+)	`CTCTGC/GAGGAG`	6	P A	mis¹ int¹ ese³		30		MN EA NA NS WA CSA EU	7602

HapMap Linkage Disequilibrium report for MPPE1 (11882621 - 11909222 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MPPE1
1 CNV: 4051

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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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MPPE1 for disorders           About GeneDecksing

OMIM gene information: 611900    OMIM disorders: --

1 disease for MPPE1:    About MalaCards

bipolar disorder

Human Genome Epidemiology (HuGE) Navigator: MPPE1 (2 documents)

Export disorders for MPPE1 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 MPPE1 gene, integrated from 9 sources (see all 16):
(articles sorted by number of sources associating them with MPPE1)

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cDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2. (PubMed id 11978971)^{1, 2, 3} Vuoristo J.T. and Ala-Kokko L. (2001)
GPI glycan remodeling by PGAP5 regulates transport of GPI-anchored proteins from the ER to the Golgi. (PubMed id 19837036)^{1, 2} Fujita M....Kinoshita T. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Association between polymorphisms in the metallophosp hoesterase (MPPE1) gene and bipolar disorder. (PubMed id 19859903)^{1, 9} Lohoff F.W....Bloch P.J. (2010)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)¹ Yosifova A....Nakamura Y. (2009)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)² Nusbaum C.... Lander E.S. (2005)
Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)² Wan D....Gu J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(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: 65258	HGNC: 15988	AceView: MPPE1	Ensembl:ENSG00000154889	euGenes: HUgn65258
ECgene: MPPE1	H-InvDB: MPPE1

(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 MPPE1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MPPE1 gene
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Patent Information for MPPE1 gene:
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metallophosphoesterase 1

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metallophosphoesterase 1

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