Human Gene MTMR12 (ENST00000382142.8_10) from GENCODE V47lift37
  Description: myotubularin related protein 12, transcript variant 1 (from RefSeq NM_001040446.3)
Gencode Transcript: ENST00000382142.8_10
Gencode Gene: ENSG00000150712.11_12
Transcript (Including UTRs)
   Position: hg19 chr5:32,227,113-32,313,045 Size: 85,933 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr5:32,229,884-32,312,944 Size: 83,061 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:32,227,113-32,313,045)mRNA (may differ from genome)Protein (747 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTMRC_HUMAN
DESCRIPTION: RecName: Full=Myotubularin-related protein 12; AltName: Full=Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit; Short=3-PAP; Short=3-phosphatase adapter protein;
FUNCTION: Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location.
SUBUNIT: Interacts with myotubularin MTM1 and myotubularin-related MTMR2.
SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes to punctate vesicles when associated with MTM1.
TISSUE SPECIFICITY: Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung.
SIMILARITY: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
SIMILARITY: Contains 1 myotubularin phosphatase domain.
CAUTION: Lacks the phosphocysteine intermediate Cys active site in position 391 that is replaced by a Glu residue, preventing the hydrolase activity.
SEQUENCE CAUTION: Sequence=BAB21773.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 13.15 RPKM in Testis
Total median expression: 387.52 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 -49.50101-0.490 Picture PostScript Text
3' UTR -825.302771-0.298 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
IPR022587 - Myotubularin_assoc
IPR017906 - Myotubularin_phosphatase_dom

Pfam Domains:
PF06602 - Myotubularin-like phosphatase domain
PF12578 - Myotubularin-associated protein

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

ModBase Predicted Comparative 3D Structure on Q9C0I1
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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 orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019208 phosphatase regulator activity

Biological Process:
GO:0006661 phosphatidylinositol biosynthetic process
GO:0050790 regulation of catalytic activity
GO:1901998 toxin transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB051469 - Homo sapiens KIAA1682 mRNA for KIAA1682 protein.
BC057393 - Homo sapiens myotubularin related protein 12, mRNA (cDNA clone MGC:60269 IMAGE:6012452), complete cds.
AY028703 - Homo sapiens phosphatidylinositol-3 phosphate 3-phosphatase adaptor subunit mRNA, complete cds.
AK000483 - Homo sapiens cDNA FLJ20476 fis, clone KAT07209.
KJ902663 - Synthetic construct Homo sapiens clone ccsbBroadEn_12057 MTMR12 gene, encodes complete protein.
AB385495 - Synthetic construct DNA, clone: pF1KA1682, Homo sapiens MTMR12 gene for myotubularin-related protein 12, complete cds, without stop codon, in Flexi system.
AL833231 - Homo sapiens mRNA; cDNA DKFZp762C055 (from clone DKFZp762C055).
AK000967 - Homo sapiens cDNA FLJ10105 fis, clone HEMBA1002542.
JD082797 - Sequence 63821 from Patent EP1572962.
JD279740 - Sequence 260764 from Patent EP1572962.
JD239004 - Sequence 220028 from Patent EP1572962.
JD503704 - Sequence 484728 from Patent EP1572962.
JD428884 - Sequence 409908 from Patent EP1572962.
JD201573 - Sequence 182597 from Patent EP1572962.
JD289711 - Sequence 270735 from Patent EP1572962.
JD236819 - Sequence 217843 from Patent EP1572962.
JD520593 - Sequence 501617 from Patent EP1572962.
JD366926 - Sequence 347950 from Patent EP1572962.
JD269663 - Sequence 250687 from Patent EP1572962.
JD230089 - Sequence 211113 from Patent EP1572962.
JD144017 - Sequence 125041 from Patent EP1572962.
JD257679 - Sequence 238703 from Patent EP1572962.
JD352058 - Sequence 333082 from Patent EP1572962.
JD448480 - Sequence 429504 from Patent EP1572962.
JD332453 - Sequence 313477 from Patent EP1572962.
JD308950 - Sequence 289974 from Patent EP1572962.
JD236918 - Sequence 217942 from Patent EP1572962.
JD181611 - Sequence 162635 from Patent EP1572962.
JD401838 - Sequence 382862 from Patent EP1572962.
JD266484 - Sequence 247508 from Patent EP1572962.
JD383700 - Sequence 364724 from Patent EP1572962.
JD556301 - Sequence 537325 from Patent EP1572962.
JD556300 - Sequence 537324 from Patent EP1572962.
JD558813 - Sequence 539837 from Patent EP1572962.
JD472212 - Sequence 453236 from Patent EP1572962.
JD085848 - Sequence 66872 from Patent EP1572962.
JD223896 - Sequence 204920 from Patent EP1572962.
JD482499 - Sequence 463523 from Patent EP1572962.
JD092164 - Sequence 73188 from Patent EP1572962.
JD400117 - Sequence 381141 from Patent EP1572962.
JD143153 - Sequence 124177 from Patent EP1572962.
JD196287 - Sequence 177311 from Patent EP1572962.
JD532899 - Sequence 513923 from Patent EP1572962.
JD556973 - Sequence 537997 from Patent EP1572962.
JD528238 - Sequence 509262 from Patent EP1572962.
JD279466 - Sequence 260490 from Patent EP1572962.
JD347476 - Sequence 328500 from Patent EP1572962.
JD385323 - Sequence 366347 from Patent EP1572962.
JD161316 - Sequence 142340 from Patent EP1572962.
JD140983 - Sequence 122007 from Patent EP1572962.
JD394472 - Sequence 375496 from Patent EP1572962.
JD190794 - Sequence 171818 from Patent EP1572962.
JD354836 - Sequence 335860 from Patent EP1572962.
JD386041 - Sequence 367065 from Patent EP1572962.
JD537239 - Sequence 518263 from Patent EP1572962.
JD191171 - Sequence 172195 from Patent EP1572962.
JD236944 - Sequence 217968 from Patent EP1572962.
JD359088 - Sequence 340112 from Patent EP1572962.
JD280011 - Sequence 261035 from Patent EP1572962.
JD349425 - Sequence 330449 from Patent EP1572962.
JD343961 - Sequence 324985 from Patent EP1572962.
AF085901 - Homo sapiens full length insert cDNA clone YQ30B05.
JD548706 - Sequence 529730 from Patent EP1572962.
JD233063 - Sequence 214087 from Patent EP1572962.
DQ576063 - Homo sapiens piRNA piR-44175, complete sequence.
DQ583558 - Homo sapiens piRNA piR-50670, complete sequence.
CU691208 - Synthetic construct Homo sapiens gateway clone IMAGE:100021434 5' read MTMR12 mRNA.
JD497345 - Sequence 478369 from Patent EP1572962.
JD129137 - Sequence 110161 from Patent EP1572962.
JD383678 - Sequence 364702 from Patent EP1572962.
JD141592 - Sequence 122616 from Patent EP1572962.
JD278292 - Sequence 259316 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9C0I1 (Reactome details) participates in the following event(s):

R-HSA-6809680 MTMR12 binds MTM1
R-HSA-6809707 MTMR12 binds MTMR2
R-HSA-6809720 PI3P is dephosphorylated to PI by MTM1:MTMR12
R-HSA-1660516 Synthesis of PIPs at the early endosome membrane
R-HSA-1483255 PI Metabolism
R-HSA-1483257 Phospholipid metabolism
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000382142.1, ENST00000382142.2, ENST00000382142.3, ENST00000382142.4, ENST00000382142.5, ENST00000382142.6, ENST00000382142.7, KIAA1682, MTMRC_HUMAN, NM_001040446, PIP3AP, Q69YJ4, Q6PFW3, Q96QU2, Q9C0I1, Q9NX27, uc318qrf.1, uc318qrf.2
UCSC ID: ENST00000382142.8_10
RefSeq Accession: NM_001040446.3
Protein: Q9C0I1 (aka MTMRC_HUMAN)

-  Gene Model Information
  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.