Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MPPE1 Gene

Aliases for MPPE1 Gene

  • Metallophosphoesterase 1 2 3 5
  • Post-GPI Attachment To Proteins Factor 5 3 4
  • PGAP5 3 4
  • Metallo Phosphoesterase 3
  • EC 3.1.-.- 4

External Ids for MPPE1 Gene

Previous GeneCards Identifiers for MPPE1 Gene

  • GC18P012145
  • GC18M011940
  • GC18M011873
  • GC18M011883
  • GC18M012550
  • GC18M012841
  • GC18M013241
  • GC18M012207
  • GC18M012999
  • GC18M013535
  • GC18M013831
  • GC18M014092

Summaries for MPPE1 Gene

GeneCards Summary for MPPE1 Gene

MPPE1 (Metallophosphoesterase 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and phosphoric diester hydrolase activity.

UniProtKB/Swiss-Prot for MPPE1 Gene

  • 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPPE1 Gene

Genomics for MPPE1 Gene

Regulatory Elements for MPPE1 Gene

Enhancers for MPPE1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH18G011884 1.3 Ensembl ENCODE dbSUPER 18.3 +23.9 23895 1.5 ELF3 SOX13 SAP130 ARID4B MAX CEBPG RAD21 YY1 TEAD3 ZFHX2 MPPE1 CHMP1B IMPA2 ENSG00000267199 PIR50553 ENSG00000273141
GH18G011993 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -85.9 -85930 4.2 ARID4B SIN3A ZNF143 DEK SP5 REST ZNF592 KAT8 NFIL3 SSRP1 IMPA2 MPPE1 CHMP1B ENSG00000266955 ENSG00000267480
GH18G011976 1.6 Ensembl ENCODE dbSUPER 11.4 -71.1 -71095 7.9 FOXA2 CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 IMPA2 MPPE1 ENSG00000267249 GC18P012428
GH18G012038 1.5 Ensembl ENCODE dbSUPER 10.6 -129.7 -129675 1.6 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143 KLF13 DEK ZNF263 IMPA2 ENSG00000267733 MPPE1 CHMP1B ENSG00000267480 ENSG00000267247 ENSG00000266995
GH18G011882 1.2 Ensembl ENCODE dbSUPER 12.8 +25.7 25741 1.8 MTA2 JUNB BMI1 DPF2 TBX21 ZBTB40 GABPA JUND ARID3A IKZF1 MPPE1 CHMP1B IMPA2 PIR50553 ENSG00000273141
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MPPE1 on UCSC Golden Path with GeneCards custom track

Promoters for MPPE1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000100899 623 2001 HDGF PKNOX1 AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for MPPE1 Gene

Chromosome:
18
Start:
11,882,622 bp from pter
End:
11,909,223 bp from pter
Size:
26,602 bases
Orientation:
Minus strand

Genomic View for MPPE1 Gene

Genes around MPPE1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPPE1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPPE1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPPE1 Gene

Proteins for MPPE1 Gene

  • Protein details for MPPE1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53F39-MPPE1_HUMAN
    Recommended name:
    Metallophosphoesterase 1
    Protein Accession:
    Q53F39
    Secondary Accessions:
    • B0YJ39
    • B0YJ40
    • B0YJ41
    • B5ME53
    • B7WNJ3
    • D3DUI5
    • D3DUI7
    • Q6GMP1
    • Q8TAD6
    • Q8TE26
    • Q8WZ32
    • Q9BU58
    • Q9H958
    • Q9HAI4

    Protein attributes for MPPE1 Gene

    Size:
    396 amino acids
    Molecular mass:
    45141 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with GPI-anchor proteins. Interacts with TMED10.
    SequenceCaution:
    • Sequence=BAB13863.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14378.1; Type=Frameshift; Positions=201; Evidence={ECO:0000305};

    Alternative splice isoforms for MPPE1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MPPE1 Gene

Post-translational modifications for MPPE1 Gene

  • Ubiquitination at posLast=289289
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MPPE1 Gene

Domains & Families for MPPE1 Gene

Protein Domains for MPPE1 Gene

Suggested Antigen Peptide Sequences for MPPE1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53F39

UniProtKB/Swiss-Prot:

MPPE1_HUMAN :
  • The di-lysine motif (KxKxx) acts as an endoplasmic reticulum retrieval signal.
  • Belongs to the metallophosphoesterase superfamily. MPPE1 family.
Domain:
  • The di-lysine motif (KxKxx) acts as an endoplasmic reticulum retrieval signal.
Family:
  • Belongs to the metallophosphoesterase superfamily. MPPE1 family.
genes like me logo Genes that share domains with MPPE1: view

No data available for Gene Families for MPPE1 Gene

Function for MPPE1 Gene

Molecular function for MPPE1 Gene

UniProtKB/Swiss-Prot 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 Numbers (IUBMB) for MPPE1 Gene

Gene Ontology (GO) - Molecular Function for MPPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008081 phosphoric diester hydrolase activity ISS --
GO:0016787 hydrolase activity IEA --
GO:0030145 manganese ion binding ISS --
GO:0034235 GPI anchor binding ISS --
genes like me logo Genes that share ontologies with MPPE1: view
genes like me logo Genes that share phenotypes with MPPE1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MPPE1

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPPE1 Gene

Localization for MPPE1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MPPE1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MPPE1 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MPPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IBA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment ISS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with MPPE1: view

Pathways & Interactions for MPPE1 Gene

SuperPathways for MPPE1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPPE1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process ISS,IBA --
GO:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport ISS,IEA --
GO:0016192 vesicle-mediated transport IEA --
genes like me logo Genes that share ontologies with MPPE1: view

No data available for Pathways by source and SIGNOR curated interactions for MPPE1 Gene

Drugs & Compounds for MPPE1 Gene

No Compound Related Data Available

Transcripts for MPPE1 Gene

Unigene Clusters for MPPE1 Gene

Metallophosphoesterase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPPE1 Gene

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: - - - - - - - - - - - - -
SP6:
SP7: - - - - - - -
SP8:
SP9: - - - - - - -
SP10: - - - - - - - - - -
SP11:
SP12:
SP13: - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - -
SP16: - - - - - - - - - -
SP17: - - - - - - - - - -
SP18: -
SP19: - - - - - - - - -
SP20:
SP21: - - - - -
SP22: - - - - - - -
SP23: -
SP24:
SP25: -

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: - -
SP6: - - - - -
SP7: -
SP8: -
SP9:
SP10: -
SP11: - -
SP12: - -
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20: - -
SP21:
SP22: -
SP23:
SP24:
SP25:

Relevant External Links for MPPE1 Gene

GeneLoc Exon Structure for
MPPE1
ECgene alternative splicing isoforms for
MPPE1

Expression for MPPE1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPPE1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPPE1 Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for MPPE1 Gene

This gene is overexpressed in Stomach (28.1), Pancreas (21.3), and CD8 Tcells (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MPPE1 Gene



Protein tissue co-expression partners for MPPE1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MPPE1 Gene:

MPPE1

SOURCE GeneReport for Unigene cluster for MPPE1 Gene:

Hs.712666

mRNA Expression by UniProt/SwissProt for MPPE1 Gene:

Q53F39-MPPE1_HUMAN
Tissue specificity: Expressed in brain.

Evidence on tissue expression from TISSUES for MPPE1 Gene

  • Nervous system(4.6)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with MPPE1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MPPE1 Gene

Orthologs for MPPE1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MPPE1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MPPE1 35 34
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MPPE1 35 34
  • 81.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mppe1 34 16 35
  • 78.41 (n)
rat
(Rattus norvegicus)
Mammalia Mppe1 34
  • 77.89 (n)
cow
(Bos Taurus)
Mammalia MPPE1 34 35
  • 76.03 (n)
oppossum
(Monodelphis domestica)
Mammalia MPPE1 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MPPE1 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MPPE1 35 34
  • 70.43 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mppe1 34
  • 65.37 (n)
zebrafish
(Danio rerio)
Actinopterygii mppe1 34 35
  • 59.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009304 34
  • 52.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8455 36 34 35
  • 51.28 (n)
worm
(Caenorhabditis elegans)
Secernentea B0511.13 36 34 35
  • 46.84 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC1 35 37
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToOne
Species where no ortholog for MPPE1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MPPE1 Gene

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

Paralogs for MPPE1 Gene

Pseudogenes.org Pseudogenes for MPPE1 Gene

genes like me logo Genes that share paralogs with MPPE1: view

No data available for Paralogs for MPPE1 Gene

Variants for MPPE1 Gene

Sequence variations from dbSNP and Humsavar for MPPE1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type
rs1000089062 -- 11,887,927(+) CCACT(A/G)GACAG intron-variant
rs1000315345 -- 11,910,719(+) CCCAC(A/G)TTCTA nc-transcript-variant, upstream-variant-2KB
rs1000339085 -- 11,908,365(+) GTAGC(A/G)CGCGG nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000534954 -- 11,892,521(+) AAAAT(G/T)AGCCG intron-variant
rs1000580401 -- 11,902,934(+) CCCTG(C/T)CCCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MPPE1 Gene

Variant ID Type Subtype PubMed ID
esv2664848 CNV deletion 23128226
esv2758713 CNV loss 17122850
esv3641820 CNV loss 21293372
nsv1057995 CNV gain 25217958
nsv1059775 CNV loss 25217958
nsv1129331 OTHER inversion 24896259
nsv1153637 OTHER inversion 26484159
nsv833590 CNV gain 17160897

Variation tolerance for MPPE1 Gene

Residual Variation Intolerance Score: 76.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.83; 58.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MPPE1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MPPE1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPPE1 Gene

Disorders for MPPE1 Gene

Relevant External Links for MPPE1

Genetic Association Database (GAD)
MPPE1
Human Genome Epidemiology (HuGE) Navigator
MPPE1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MPPE1

No disorders were found for MPPE1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MPPE1 Gene

Publications for MPPE1 Gene

  1. Association between polymorphisms in the metallophosphoesterase (MPPE1) gene and bipolar disorder. (PMID: 19859903) Lohoff F.W. … Bloch P.J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 22 46 64
  2. cDNA cloning, genomic organization and expression of the novel human metallophosphoesterase gene MPPE1 on chromosome 18p11.2. (PMID: 11978971) Vuoristo J.T. … Ala-Kokko L. (Cytogenet. Cell Genet. 2001) 2 3 4 64
  3. 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. (PMID: 19328558) Yosifova A. … Nakamura Y. (J Affect Disord 2009) 3 46 64
  4. GPI glycan remodeling by PGAP5 regulates transport of GPI-anchored proteins from the ER to the Golgi. (PMID: 19837036) Fujita M. … Kinoshita T. (Cell 2009) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MPPE1 Gene

Sources for MPPE1 Gene

Content
Loading form....