Aliases for MPPED1 Gene

Aliases for MPPED1 Gene

  • Metallophosphoesterase Domain Containing 1 2 3 5
  • Metallophosphoesterase Domain-Containing Protein 1 3 4
  • Adult Brain Protein 239 3 4
  • C22orf1 3 4
  • 239AB 3 4
  • FAM1A 3 4
  • 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 Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome and Aniridia 1. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is MPPED2.

UniProtKB/Swiss-Prot Summary for MPPED1 Gene

Additional gene information for MPPED1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification 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
GH22J043411 Promoter 0.7 Ensembl 500.7 +0.8 805 1.2 EZH2 ZBTB17 FOXM1 MAZ ZFX ZNF366 ZBTB8A SUZ12 ZNF394 ZNF23 MPPED1 ENSG00000261251 lnc-TSPO-4
GH22J043376 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 11.8 -33.4 -33395 2.8 SP1 NCOR1 EP300 KDM6A TCF7 RELA SKI TEAD1 BCL11A ZNF316 SCUBE1 ENSG00000203527 MPPED1 ENSG00000234892 MCAT LOC105373053
GH22J043226 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 -184.1 -184095 2.6 CTCF ZIC2 GABPA MYC ZNF654 EGR1 SIN3A RAD21 SMARCA4 FOS TTLL12 ENSG00000203527 SCUBE1 MCAT MPPED1 ENSG00000234892 ENSG00000236272
GH22J043326 Enhancer 0.8 Ensembl CraniofacialAtlas 10.9 -84.7 -84698 1.4 ZIC2 TRIM28 FOSL1 NR2F1 ZNF189 ZNF768 NR2F6 SMARCA4 PRDM4 ZFP69B ENSG00000203527 MPPED1 lnc-TTLL12-2 SCUBE1
GH22J043436 Enhancer 0.6 ENCODE 12.3 +25.2 25221 0.2 ZIC2 FOXA2 GABPB1 JUND ZFHX2 RAD21 RXRA GLIS1 MAX HNF4A MPPED1 lnc-TSPO-4 ENSG00000286801
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MPPED1

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

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; 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 intracellular proteins

Protein Domains for MPPED1 Gene

Suggested Antigen Peptide Sequences for MPPED1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77634, highly similar to Homo sapiens metallophosphoesterase domain containing 1, mRNA (A8K159_HUMAN)
  • cDNA FLJ59965, highly similar to Metallophosphoesterase domain-containing protein 1 (B4DS06_HUMAN)
  • cDNA FLJ54633, highly similar to Metallophosphoesterase domain-containing protein 1 (B7Z2S9_HUMAN)
  • Adult brain protein 239 (MPPD1_HUMAN)
  • C22orf1 protein (Q20WK9_HUMAN)

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

CRISPR 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 1
mitochondrion 1
peroxisome 0
lysosome 0

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

PathCards logo

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

13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for MPPED1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MPPED1

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 -- 31
  • 97 (a)
-- 31
  • 73 (a)
(Canis familiaris)
Mammalia MPPED1 31 30
  • 93.15 (n)
(Rattus norvegicus)
Mammalia Mpped1 30
  • 91.21 (n)
(Mus musculus)
Mammalia Mpped1 17 31 30
  • 89.98 (n)
(Monodelphis domestica)
Mammalia MPPED1 31
  • 75 (a)
(Gallus gallus)
Aves MPPED1 31 30
  • 80.57 (n)
(Anolis carolinensis)
Reptilia MPPED1 31
  • 96 (a)
(Danio rerio)
Actinopterygii MPPED1 31
  • 88 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16717 31 30
  • 58.58 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004891 30
  • 54.55 (n)
(Caenorhabditis elegans)
Secernentea T07D4.2 31 30
  • 51.63 (n)
C25E10.12 31
  • 41 (a)
K07C11.7 31
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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

Additional dbSNP identifiers (rs#s) for MPPED1 Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MPPED1 Gene

Disorders for MPPED1 Gene

MalaCards: The human disease database

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

- 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 54
  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 54
  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 41 54
  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 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for MPPED1 Gene

Sources for MPPED1 Gene