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Aliases for MPPED1 Gene

Aliases for MPPED1 Gene

  • Metallophosphoesterase Domain Containing 1 2 3 5
  • Adult Brain Protein 239 3 4
  • C22orf1 3 4
  • 239AB 3 4
  • FAM1A 3 4
  • Metallophosphoesterase Domain-Containing Protein 1 3
  • Chromosome 22 Open Reading Frame 1 2
  • EC 3.1.-.- 4

External Ids for MPPED1 Gene

Previous HGNC Symbols for MPPED1 Gene

  • C22orf1

Previous GeneCards Identifiers for MPPED1 Gene

  • GC22P042147
  • GC22P042229
  • GC22P042137
  • GC22P043807
  • GC22P026765

Summaries for MPPED1 Gene

GeneCards Summary for MPPED1 Gene

MPPED1 (Metallophosphoesterase Domain Containing 1) is a Protein Coding gene. Diseases associated with MPPED1 include Aniridia 1. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is MPPED2.

UniProtKB/Swiss-Prot for MPPED1 Gene

  • May have metallophosphoesterase activity (in vitro).

Additional gene information for MPPED1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MPPED1 Gene

Genomics for MPPED1 Gene

GeneHancer (GH) Regulatory Elements for MPPED1 Gene

Promoters and enhancers for MPPED1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J043376 Enhancer 1.1 Ensembl ENCODE 11.8 -33.3 -33272 2.2 PKNOX1 FOXA2 SMAD1 MLX NFIB BATF IRF4 RARA ZNF614 BCLAF1 SCUBE1 LOC101927447 MPPED1 ENSG00000234892 MCAT LOC105373053
GH22J043436 Enhancer 0.7 ENCODE 12.3 +25.2 25221 0.2 FOXA2 TAF1 MAX ZIC2 RAD21 YY1 ZFHX2 GLIS2 EGR1 EGR2 MPPED1 GC22P043447
GH22J043226 Enhancer 0.6 ENCODE dbSUPER 10.2 -184.4 -184396 1 CTCF SIN3A TTLL12 LOC101927447 SCUBE1 MCAT MPPED1 ENSG00000234892 LOC105373051
GH22J043897 Enhancer 0.5 ENCODE 10.1 +486.8 486820 0.8 ZFHX2 JUND ZNF398 FOS EGR2 EFCAB6 PNPLA3 SULT4A1 MPPED1 PNPLA5
GH22J043415 Enhancer 0.2 FANTOM5 13.7 +4.2 4212 0.4 MPPED1 SCUBE1 TTLL1 SULT4A1 GC22P043447
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MPPED1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MPPED1 gene promoter:
  • Pax-4a
  • SRF (504 AA)
  • SRF
  • Pbx1a
  • AML1a
  • Msx-1
  • Evi-1
  • RFX1
  • SREBP-1b
  • SREBP-1c

Genomic Locations for MPPED1 Gene

Genomic Locations for MPPED1 Gene
96,653 bases
Plus strand
96,527 bases
Plus strand

Genomic View for MPPED1 Gene

Genes around MPPED1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MPPED1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MPPED1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MPPED1 Gene

Proteins for MPPED1 Gene

  • Protein details for MPPED1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Metallophosphoesterase domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K159
    • B7Z2S9
    • Q8N361

    Protein attributes for MPPED1 Gene

    326 amino acids
    Molecular mass:
    37207 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC51673.2; Type=Frameshift; Positions=20; Evidence={ECO:0000305};

    Alternative splice isoforms for MPPED1 Gene


neXtProt entry for MPPED1 Gene

Post-translational modifications for MPPED1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MPPED1 Gene

No data available for DME Specific Peptides for MPPED1 Gene

Domains & Families for MPPED1 Gene

Gene Families for MPPED1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for MPPED1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UPF0046 family.
  • Belongs to the UPF0046 family.
genes like me logo Genes that share domains with MPPED1: view

Function for MPPED1 Gene

Molecular function for MPPED1 Gene

UniProtKB/Swiss-Prot Function:
May have metallophosphoesterase activity (in vitro).

Enzyme Numbers (IUBMB) for MPPED1 Gene

Phenotypes From GWAS Catalog for MPPED1 Gene

Gene Ontology (GO) - Molecular Function for MPPED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MPPED1: view
genes like me logo Genes that share phenotypes with MPPED1: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MPPED1 Gene

Localization for MPPED1 Gene

Subcellular locations from

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 MPPED1 gene
Compartment Confidence
extracellular 2
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MPPED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with MPPED1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for MPPED1 Gene

Pathways & Interactions for MPPED1 Gene

SuperPathways for MPPED1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MPPED1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with MPPED1: view

No data available for Pathways by source and SIGNOR curated interactions for MPPED1 Gene

Drugs & Compounds for MPPED1 Gene

No Compound Related Data Available

Transcripts for MPPED1 Gene

mRNA/cDNA for MPPED1 Gene

(3) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MPPED1 Gene

Metallophosphoesterase domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MPPED1 Gene

No ASD Table

Relevant External Links for MPPED1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MPPED1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MPPED1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MPPED1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.6), Brain - Cortex (x10.3), Brain - Anterior cingulate cortex (BA24) (x9.9), Brain - Hippocampus (x5.9), and Liver (x4.6).

NURSA nuclear receptor signaling pathways regulating expression of MPPED1 Gene:


SOURCE GeneReport for Unigene cluster for MPPED1 Gene:


mRNA Expression by UniProt/SwissProt for MPPED1 Gene:

Tissue specificity: Expressed predominantly in adult brain.

Evidence on tissue expression from TISSUES for MPPED1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with MPPED1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MPPED1 Gene

Orthologs for MPPED1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MPPED1 Gene

Organism Taxonomy Gene Similarity Type Details
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
-- 34
  • 73 (a)
(Canis familiaris)
Mammalia MPPED1 34 33
  • 93.15 (n)
(Rattus norvegicus)
Mammalia Mpped1 33
  • 91.21 (n)
(Mus musculus)
Mammalia Mpped1 16 34 33
  • 89.98 (n)
(Monodelphis domestica)
Mammalia MPPED1 34
  • 75 (a)
(Gallus gallus)
Aves MPPED1 34 33
  • 80.57 (n)
(Anolis carolinensis)
Reptilia MPPED1 34
  • 96 (a)
(Danio rerio)
Actinopterygii MPPED1 34
  • 88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16717 34 33
  • 58.58 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004891 33
  • 54.55 (n)
(Caenorhabditis elegans)
Secernentea T07D4.2 34 33
  • 51.63 (n)
C25E10.12 34
  • 41 (a)
K07C11.7 34
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
Species where no ortholog for MPPED1 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MPPED1 Gene

Gene Tree for MPPED1 (if available)
Gene Tree for MPPED1 (if available)
Evolutionary constrained regions (ECRs) for MPPED1: view image

Paralogs for MPPED1 Gene

Paralogs for MPPED1 Gene

(2) SIMAP similar genes for MPPED1 Gene using alignment to 6 proteins:

  • B1AH62_HUMAN
  • B1AH63_HUMAN
  • B4DS06_HUMAN
  • B7Z2S9_HUMAN
  • F5H6C9_HUMAN
genes like me logo Genes that share paralogs with MPPED1: view

Variants for MPPED1 Gene

Sequence variations from dbSNP and Humsavar for MPPED1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000024228 -- 43,420,504(+) A/G intron_variant
rs1000030843 -- 43,490,616(+) A/T intron_variant
rs1000040199 -- 43,483,312(+) C/G/T intron_variant
rs1000044353 -- 43,470,636(+) A/G intron_variant
rs1000051170 -- 43,412,413(+) C/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MPPED1 Gene

Variant ID Type Subtype PubMed ID
dgv2465n106 CNV deletion 24896259
dgv2619e59 CNV duplication 20981092
dgv736e201 CNV deletion 23290073
esv1484276 CNV insertion 17803354
esv2393908 CNV deletion 18987734
esv2470453 CNV insertion 19546169
esv2657732 CNV deletion 23128226
esv2663442 CNV deletion 23128226
esv2670249 CNV deletion 23128226
esv2671679 CNV deletion 23128226
esv2678841 CNV deletion 23128226
esv2724308 CNV deletion 23290073
esv2724309 CNV deletion 23290073
esv2724310 CNV deletion 23290073
esv2724312 CNV deletion 23290073
esv2724314 CNV deletion 23290073
esv2724315 CNV deletion 23290073
esv3368133 CNV duplication 20981092
esv3647867 CNV loss 21293372
esv3647868 CNV loss 21293372
nsv1072215 CNV deletion 25765185
nsv1072216 CNV deletion 25765185
nsv1073165 CNV deletion 25765185
nsv1077939 CNV duplication 25765185
nsv1078801 CNV insertion 25765185
nsv1114327 CNV deletion 24896259
nsv1116012 CNV insertion 24896259
nsv1117319 CNV tandem duplication 24896259
nsv1121597 CNV deletion 24896259
nsv1123600 CNV deletion 24896259
nsv1124864 CNV duplication 24896259
nsv1126632 CNV deletion 24896259
nsv1129231 CNV insertion 24896259
nsv1129687 CNV tandem duplication 24896259
nsv1136356 CNV deletion 24896259
nsv1148566 CNV deletion 26484159
nsv428392 CNV gain+loss 18775914
nsv459892 CNV gain 19166990
nsv471205 CNV gain 18288195
nsv508739 CNV insertion 20534489
nsv589098 CNV gain 21841781
nsv955169 CNV deletion 24416366

Variation tolerance for MPPED1 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MPPED1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MPPED1 Gene

Disorders for MPPED1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MPPED1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
aniridia 1
  • an1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MPPED1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MPPED1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MPPED1 Gene

Publications for MPPED1 Gene

  1. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 2 3 4 58
  2. The 239AB gene on chromosome 22: a novel member of an ancient gene family. (PMID: 9266672) Schwartz F … Ota T (Gene 1997) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MPPED1 Gene

Sources for MPPED1 Gene

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