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MPPED1 Gene

protein-coding   GIFtS: 48
GCID: GC22P043807

Metallophosphoesterase Domain Containing 1

(Previous name: chromosome 22 open reading frame 1)
(Previous symbol: C22orf1)
  Search for MPPED1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Metallophosphoesterase Domain Containing 11 2     FAM1A2 3
C22orf11 2 3 5     Chromosome 22 Open Reading Frame 11
239AB2 3 5     Metallophosphoesterase Domain-Containing Protein 12
Adult Brain Protein 2392 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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MPPED1 Gene:
MPPED1 (metallophosphoesterase domain containing 1) is a protein-coding gene. GO annotations related to this gene include hydrolase activity. An important paralog of this gene is MPPED2.

UniProtKB/Swiss-Prot: MPPD1_HUMAN, O15442
Function: May have metallophosphoesterase activity (in vitro) (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 Chromatin IP Primers for MPPED1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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: 22q13.2

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:
43,903,728 bp from pter
Size:
96,527 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

Explore proteomics data for MPPED1 at MOPED


See MPPED1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

MPPED1 Human Recombinant Protein Products:

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Cloud-Clone Corp. Proteins for MPPED1

 
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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR004843 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


Find genes that share domains with MPPED1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: MPPD1_HUMAN, O15442
Function: May have metallophosphoesterase activity (in vitro) (By similarity)

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

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
GO:0016787hydrolase activity IEA--
     
Find genes that share ontologies with MPPED1           About GenesLikeMe


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MPPED1
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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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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular2
lysosome1
mitochondrion1
peroxisome1

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with MPPED1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPPED1
Interactions:

    Search GeneGlobe Interaction Network for MPPED1

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

Selected 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:    About this table

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

Find genes that share ontologies with MPPED1           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for MPPED1 (MPPD1)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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7 qRT-PCR Assays for microRNAs that regulate MPPED1:
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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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat MPPED1

Additional mRNA 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:

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

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MPPED1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACTTTTTCT
MPPED1 Expression
About this image


MPPED1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Endothelial Cells Blood Brain Barrier
         N2/LSB/S/F8-induced cells
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Telencephalon
         Floor plate-like cells
 
 Endothelium (Cardiovascular System)    fully expand to see all 2 entries
         Endothelial Cells Blood Brain Barrier
 
 Neural Ectoderm (Nervous System)
         Neural ectoderm cells
MPPED1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MPPED1 Protein Expression

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:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPPED1

(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)
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This gene was present in the common ancestor of animals.

Orthologs for MPPED1 gene from Selected species (see all 12)    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_004938026.1  XP_004938083.1 
lizard
(Anolis carolinensis)
Reptilia MPPED16
metallophosphoesterase domain containing 1
96(a)
1 ↔ 1
5(86240321-86368682)
zebrafish
(Danio rerio)
Actinopterygii MPPED16
metallophosphoesterase domain containing 1
88(a)
1 ↔ 1
4(7922458-7952924) ENSDARG00000088181
fruit fly
(Drosophila melanogaster)
Insecta CG167171 CG16717 58.58(n)
55.74(a)
  39129  NM_140086.3  NP_648343.1 
worm
(Caenorhabditis elegans)
Secernentea T07D4.21 T07D4.2 51.63(n)
49.62(a)
  174416  NM_001083164.3  NP_001076633.1 


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

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

Find genes that share paralogs with MPPED1           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for MPPED1 (see all 2444)    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
C,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,F--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 - 43903728 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for MPPED1 (see all 24):    About this table    
Variant IDTypeSubtypePubMed ID
esv2670249CNV Deletion23128226
esv2671679CNV Deletion23128226
esv2678841CNV Deletion23128226
dgv783e201CNV Deletion23290073
esv2724315CNV Deletion23290073
esv2724314CNV Deletion23290073
esv2724308CNV Deletion23290073
esv2724312CNV Deletion23290073
esv2663442CNV Deletion23128226
esv2657732CNV Deletion23128226

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing MPPED1
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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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OMIM gene information: 602112    OMIM disorders: --


Find genes that share disorders with MPPED1           About GenesLikeMe

Genetic Association Database (GAD): MPPED1
Human Genome Epidemiology (HuGE) Navigator: MPPED1 (1 document)

Export disorders for MPPED1 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 MPPED1 gene, integrated from 10 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.... Wright H. (Nature 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. (Gene 1997)
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
  4. 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. (Genome Res. 2004)
  5. A yeast two-hybrid screen reveals that osteopontin associates 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. (Eur. J. Neurosci. 2012)
  6. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
  7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 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. (Mol. Psychiatry 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. (Genome Res. 2006)
  10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

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

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MPPED1 Pharmacogenomics, SNPs, Pathways

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

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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