Human Gene MTMR7 (uc003wxm.3) Description and Page Index
  Description: Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.
RefSeq Summary (NM_004686): This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.71939.1, SRR1660803.76648.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000180173.10/ ENSP00000180173.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr8:17,154,306-17,271,040 Size: 116,735 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr8:17,157,371-17,270,801 Size: 113,431 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:17,154,306-17,271,040)mRNA (may differ from genome)Protein (660 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: MTMR7_HUMAN
DESCRIPTION: RecName: Full=Myotubularin-related protein 7; EC=3.1.3.-;
FUNCTION: Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable).
SUBUNIT: Interacts with MTMR6, MTMR8 and MTMR9.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Expressed specifically in brain.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
SIMILARITY: Contains 1 myotubularin phosphatase domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MTMR7
CDC HuGE Published Literature: MTMR7
Positive Disease Associations: Body Mass Index , Body Weight Changes , Cholesterol , Cholesterol, LDL , Creutzfeldt-Jakob Syndrome
Related Studies:
  1. Body Mass Index
    , , . [PubMed 0]
  2. Body Mass Index
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Body Weight Changes
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.11 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 26.99 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.10239-0.586 Picture PostScript Text
3' UTR -685.853065-0.224 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010569 - Myotub-related
IPR017906 - Myotubularin_phosphatase_dom
IPR000387 - Tyr/Dual-specificity_Pase
IPR016130 - Tyr_Pase_AS

Pfam Domains:
PF06602 - Myotubularin-like phosphatase domain

SCOP Domains:
50729 - PH domain-like
52799 - (Phosphotyrosine protein) phosphatases II

ModBase Predicted Comparative 3D Structure on Q9Y216
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004438 phosphatidylinositol-3-phosphatase activity
GO:0004725 protein tyrosine phosphatase activity
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0016791 phosphatase activity
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
GO:0052866 phosphatidylinositol phosphate phosphatase activity

Biological Process:
GO:0006470 protein dephosphorylation
GO:0006661 phosphatidylinositol biosynthetic process
GO:0016311 dephosphorylation
GO:0035335 peptidyl-tyrosine dephosphorylation
GO:0046855 inositol phosphate dephosphorylation
GO:0046856 phosphatidylinositol dephosphorylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  CR749240 - Homo sapiens mRNA; cDNA DKFZp781E194 (from clone DKFZp781E194).
BC130577 - Homo sapiens myotubularin related protein 7, mRNA (cDNA clone MGC:163449 IMAGE:40146608), complete cds.
BC130579 - Homo sapiens myotubularin related protein 7, mRNA (cDNA clone MGC:163451 IMAGE:40146610), complete cds.
AK294468 - Homo sapiens cDNA FLJ54630 complete cds, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-).
AK316022 - Homo sapiens cDNA, FLJ78921 complete cds, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-).
AK316283 - Homo sapiens cDNA, FLJ79182 complete cds, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-).
HQ258354 - Synthetic construct Homo sapiens clone IMAGE:100072663 myotubularin related protein 7 (MTMR7) gene, encodes complete protein.
HQ258491 - Synthetic construct Homo sapiens clone IMAGE:100072920 myotubularin related protein 7 (MTMR7) gene, encodes complete protein.
KJ897967 - Synthetic construct Homo sapiens clone ccsbBroadEn_07361 MTMR7 gene, encodes complete protein.
KJ905370 - Synthetic construct Homo sapiens clone ccsbBroadEn_14929 MTMR7 gene, encodes complete protein.
KJ905986 - Synthetic construct Homo sapiens clone ccsbBroadEn_15656 MTMR7 gene, encodes complete protein.
AF073482 - Homo sapiens myotubularin related protein 7 mRNA, partial cds.
AK123201 - Homo sapiens cDNA FLJ41207 fis, clone BRALZ2012050.
AK303803 - Homo sapiens cDNA FLJ57280 complete cds, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-).
AK303762 - Homo sapiens cDNA FLJ57279 complete cds, highly similar to Myotubularin-related protein 7 (EC 3.1.3.-).
JD187029 - Sequence 168053 from Patent EP1572962.
JD251852 - Sequence 232876 from Patent EP1572962.
JD433123 - Sequence 414147 from Patent EP1572962.
JD248379 - Sequence 229403 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00051 - Fructose and mannose metabolism
hsa00730 - Thiamine metabolism
hsa00740 - Riboflavin metabolism
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q9Y216 (Reactome details) participates in the following event(s):

R-HSA-6809238 MTMR7 binds MTMR9
R-HSA-6809561 I(1,3)P2 is dephosphorylated into I1P by MTMR7
R-HSA-6809565 I(1,3)P2 is dephosphorylated into I1P by MTMR7:MTMR9
R-HSA-1675795 PI3P is dephosphorylated to PI by MTM proteins at the late endosome membrane
R-HSA-1676065 PI(3,5)P2 is dephosphorylated to PI5P by MTM proteins at the late endosome membrane
R-HSA-1660517 Synthesis of PIPs at the late endosome membrane
R-HSA-1855183 Synthesis of IP2, IP, and Ins in the cytosol
R-HSA-1483255 PI Metabolism
R-HSA-1483249 Inositol phosphate metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-1430728 Metabolism
R-HSA-556833 Metabolism of lipids

-  Other Names for This Gene
  Alternate Gene Symbols: A1L4K9, B4DG87, MTMR7_HUMAN, NM_004686, NP_004677, Q68DX4, Q9Y216
UCSC ID: uc003wxm.3
RefSeq Accession: NM_004686
Protein: Q9Y216 (aka MTMR7_HUMAN or MTR7_HUMAN)
CCDS: CCDS34851.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004686.4
exon count: 14CDS single in 3' UTR: no RNA size: 5302
ORF size: 1983CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4166.00frame shift in genome: no % Coverage: 99.72
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.