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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MPPED1 Gene

protein-coding   GIFtS: 48
GCID: GC22P043807

metallophosphoesterase domain containing 1

(Previous name: chromosome 22 open reading frame 1 )
(Previous symbol: C22orf1)
 Explore 5 diseases affiliated with
MPPED1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MPPED1    

Aliases
for MPPED1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Metallophosphoesterase Domain Containing 11 2     Adult Brain Protein 2392 3
239AB1 2 3 5     Chromosome 22 Open Reading Frame 11
C22orf11 2 3 5     Metallophosphoesterase Domain-Containing Protein 12
FAM1A1 2 3     EC 3.1.-.-3

External Ids:    HGNC: 13061   Entrez Gene: 7582   Ensembl: ENSG000001867327   OMIM: 6021125   UniProtKB: O154423   

Export aliases for MPPED1 gene to outside databases

Previous GC identifers: GC22P042147 GC22P042229 GC22P042137 GC22P026765


Summaries
for MPPED1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: MPPD1_HUMAN, O15442
Function: May have metallophosphoesterase activity (in vitro) (By similarity)




Genomic Views
for MPPED1 gene

(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPPED1 gene promoter:
         SRF   RFX1   AML1a   Pbx1a   SREBP-1c   SRF (504 AA)   SREBP-1b   Evi-1   Msx-1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MPPED1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPPED1


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.31

MPPED1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPPED1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P043807:  view genomic region     (about GC identifiers)

Start:
 43,807,202 bp from pter      End:
 43,902,800 bp from pter
Size:
 95,599 bases      Orientation:
 plus strand

Proteins
for MPPED1 gene

(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: MPPD1_HUMAN, O15442 (See protein sequence)
Recommended Name: Metallophosphoesterase domain-containing protein 1  
Size: 326 amino acids; 37207 Da
Sequence caution: Sequence=AAC51673.2; Type=Frameshift; Positions=20;
Secondary accessions: A8K159 Q8N361

Explore the universe of human proteins at neXtProt for MPPED1: NX_O15442

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15442

    • MPPED1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001037835.1  
    ENSEMBL proteins: 
     ENSP00000388137   ENSP00000335568   ENSP00000401378   ENSP00000438335   ENSP00000400686  
     ENSP00000444532   ENSP00000388245   ENSP00000390379  

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    Novus Biologicals MPPED1 Proteins
    Novus Biologicals MPPED1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MPPED1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--


    MPPED1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for MPPED1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MPPED1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004843 Metallo_PEstase_dom
     IPR024201 Calcineurin-like_Pesterase

    Graphical View of Domain Structure for InterPro Entry O15442

    ProtoNet protein and cluster: O15442

    UniProtKB/Swiss-Prot: MPPD1_HUMAN, O15442
    Similarity: Belongs to the UPF0046 family


    Function
    for MPPED1 gene

    (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: MPPD1_HUMAN, O15442
    Function: May have metallophosphoesterase activity (in vitro) (By similarity)

    Enzyme Number (IUBMB): EC 3.1.-.-1

    miRNA
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    hsa-miR-4324 hsa-miR-544b hsa-miR-143 hsa-miR-378* hsa-miR-551b* hsa-miR-548c-3p hsa-miR-504
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    Inhib. RNA
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    OriGene shRNA RFP: MPPED1
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016787hydrolase activity IEA--


    MPPED1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for MPPED1 gene

    (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 CentralTM Interacting Genes and Proteins Networks for MPPED1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/8 Interacting proteins for MPPED1 (O154422, 3 ENSP000003881374) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA7P200732, 3MINT-8248516 I2D: score=2 
    TK1P041832, 3MINT-8273741 I2D: score=2 
    DISC1Q9NRI53, ENSP000003555964I2D: score=2 STRING: ENSP00000355596
    DPH1Q9BZG83I2D: score=5 
    SNX33Q8WV413I2D: score=5 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    MPPED1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MPPED1 gene

    (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 MPPED1
    Search CenterWatch for drugs/clinical trials and news about MPPED1 / MPPD1 

    Transcripts
    for MPPED1 gene

    (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 MPPED1 gene: 
    NM_001044370.1  

    Unigene Cluster for MPPED1:

    Metallophosphoesterase domain containing 1
    Hs.159538  [show with all ESTs]
    Unigene Representative Sequence: NM_001044370
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000417669(uc011apy.2 uc011apz.2) ENST00000334209 ENST00000447567
    ENST00000465861 ENST00000480239 ENST00000538182 ENST00000443721(uc011apv.2 uc011apw.2 uc011apx.2)
    ENST00000542779 ENST00000414469 ENST00000439548

    miRNA
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    hsa-miR-4324 hsa-miR-544b hsa-miR-143 hsa-miR-378* hsa-miR-551b* hsa-miR-548c-3p hsa-miR-504
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: MPPED1
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPPED1
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    Additional cDNA sequence: 

    AK289774.1 AK290541.1 AK294912.1 AK295077.1 AK297276.1 AK299516.1 AK299531.1 AK316008.1 
    BC028035.1 CT841512.1 U84894.1 

    8 DOTS entries:

    DT.112803  DT.409457  DT.120662696  DT.120662700  DT.120662683  DT.40315980  DT.86840817  DT.86838842 

    12 AceView cDNA sequences:

    BF115655 AA348481 BI916307 BI916175 BI915267 BM476003 BP346866 R88675 
    AW294623 U84894 BC028035 NM_001585 

    GeneLoc Exon Structure


    Expression
    for MPPED1 gene

    (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

    MPPED1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACTTTTTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MPPED1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainBlood Brain BarrierEndothelial CellsBlood Brain Barrier, Endothelium
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MPPED1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPPED1

    SOURCE GeneReport for Unigene cluster: Hs.159538

    UniProtKB/Swiss-Prot: MPPD1_HUMAN, O15442
    Tissue specificity: Expressed predominantly in adult brain

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    In Situ
    Assay Products:     
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    Orthologs
    for MPPED1 gene

    (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 animals.

    Orthologs for MPPED1 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Mpped11 , 5 metallophosphoesterase domain containing 11, 5 89.98(n)1
    98.16(a)1    		   15 (39.44 cM)5
    2237261  NM_172610.31  NP_766198.11 
     837794675 
    chicken
    (Gallus gallus)    		 Aves MPPED11 metallophosphoesterase domain containing 1 80.57(n)
    97.02(a)    		   418229  XM_416454.3  XP_416454.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MPPED16
    		 --
    		 95(a)
    		 1 ↔ 1
    		 5(86324621-86343786)
    zebrafish
    (Danio rerio)    		 Actinopterygii CABZ01031603.16
    		 --
    		 88(a)
    		 1 ↔ 1
    		 4(7922458-7952924)
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG167171 CG16717 55.97(n)
    51.66(a)    		   39129  NM_140086.2  NP_648343.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea T07D4.21 Protein T07D4.2 51.5(n)
    48.87(a)    		   174416  NM_001083164.2  NP_001076633.1 


    ENSEMBL Gene Tree for MPPED1 (if available)
    TreeFam Gene Tree for MPPED1 (if available) 

    Paralogs
    for MPPED1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPPED1 gene
    MPPED22  
    2 SIMAP similar genes for MPPED1 using alignment to 6 protein entries:     MPPD1_HUMAN (see all proteins):
    C22orf1    MPPED2

    MPPED1 for paralogs           About GeneDecksing



    Genomic Variants
    for MPPED1 gene

    (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

    10/1925 NCBI SNPs in MPPED1 are shown (see all 1925)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs72884311,2
    		C,F,A,H,--43806065(+) GATGCT/CCAATA 1 -- us2k110Minor allele frequency- C:0.04NS EA NA CSA WA 922
    rs1874971901,2
    		--43806111(+) GGGACC/TTGAGG 1 -- us2k10--------
    rs1484295551,2
    		--43806146(+) GTGGGA/GAAGCT 1 -- us2k10--------
    rs412775251,2
    		F,--43806200(+) AGGGAC/GCAGGA 1 -- us2k12Minor allele frequency- G:0.05WA NA 238
    rs1904382881,2
    		--43806229(+) CCTTTG/TTGATC 1 -- us2k10--------
    rs1450850531,2
    		--43806239(+) CTCCAA/GAGGCC 1 -- us2k10--------
    rs1479402731,2
    		--43806259(+) CTGTGG/TCTTTG 1 -- us2k10--------
    rs1825138091,2
    		--43806370(+) GTGCTC/TAGGAA 1 -- us2k10--------
    rs1115408201,2
    		C,--43806437(+) GAGAAC/TTGGGG 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs57593211,2
    		C,F,--43806506(+) CCCCCC/GATCTC 1 -- us2k11Minor allele frequency- G:0.05EA 120

    HapMap Linkage Disequilibrium report for MPPED1 (43807202 - 43902800 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for MPPED1
         3 CNVs: 91083 79598 91084
         2 Indels: 103186 46233

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MPPED1 gene

    (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.)
    About This Section
    MPPED1 for disorders           About GeneDecksing

    OMIM gene information: 602112    OMIM disorders: --

    5 diseases for MPPED1:    About MalaCards
    mental retardation syndrome    wagr syndrome    aniridia    wilms tumor
    schizophrenia

    Human Genome Epidemiology (HuGE) Navigator: MPPED1 (1 document)

    Export disorders for MPPED1 gene to outside databases

    Publications
    for MPPED1 gene

    (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)
    About This Section

    PubMed articles for MPPED1 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with MPPED1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2, 3 Dunham I....O'Brien K.P. (1999)
    2. The 239AB gene on chromosome 22: a novel member of an ancient gene family. (PubMed id 9266672)1, 2, 3 Schwartz F. and Ota T. (1997)
    3. 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)
    4. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    5. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (2007)
    9. 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)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    External Searches for MPPED1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing MPPED1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 758 HGNC: 1306 AceView: C22orf1 Ensembl:ENSG00000186732 euGenes: HUgn758
    ECgene: MPPED1 H-InvDB: MPPED1

    Other Databases showing MPPED1 gene

    (According to HUGE)
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    Specialized Databases showing MPPED1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MPPED1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MPPED1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MPPED1 gene:
    Search GeneIP for patents involving MPPED1

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