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Gene Gene information from NCBI Gene database.
Entrez ID 54545
Gene name Myotubularin related protein 12
Gene symbol MTMR12
Synonyms (NCBI Gene)
3-PAPPIP3AP
Chromosome 5
Chromosome location 5p13.3
Summary Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with
miRNA miRNA information provided by mirtarbase database.
801 Show/Hide all (801)
miRTarBase ID miRNA Experiments Reference
MIRT003764 hsa-miR-1-3p Microarray 15685193
MIRT003764 hsa-miR-1-3p Microarray 15685193
MIRT003764 hsa-miR-1-3p Microarray 18668037
MIRT024864 hsa-miR-215-5p Microarray 19074876
MIRT025161 hsa-miR-181a-5p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12847286, 27880917, 35271311
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16787938
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606501 18191 ENSG00000150712
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9C0I1
Protein name Myotubularin-related protein 12 (Inactive phosphatidylinositol 3-phosphatase 12) (Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit) (3-PAP) (3-phosphatase adapter protein)
Protein function Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06602 Myotub-related 301 → 501 Myotubularin-like phosphatase domain Domain
PF12578 3-PAP 558 → 687 Myotubularin-associated protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939). {ECO:0000269|PubMed:11504939, ECO:0000269|PubMed:23818870}.
Sequence
MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLHLLPGEQLLCEASTVLK
YVQEDSCQHGVYGRLVCTDFKIAFLGDDESALDNDETQFKNKVIGENDITLHCVDQIYGV
FDEKKKTLFGQLKKYPEKLIIHCKDLRVFQFCLRYTKEEEVKRIVSGIIHHTQAPKLLKR
LFLFSYATAAQNNTVTDPKNHTVMFDTLKDWCWELERTKGNMKYKAVSVNEGYKVCERLP
AYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALLKMSALPKEQDDGILQIQKSFLDGI
YKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKFKQLFLIDNSTEFWDTDIKWFSLLESS
SWLDIIRRCLKKAIEITECMEAQNMNVLLLEENASDLCCLISSLVQLMMDPHCRTRIGFQ
SLIQKEWVMGGHCFLDRCNHLRQNDKEEVPVFLLFLDCVWQLVHQHPPAFEFTETYLTVL
SDSLYIPIFSTFFFNSPHQKD
TNMGREGQDTQSKPLNLLTVWDWSVQFEPKAQTLLKNPL
YVEKPKLDKGQRKGMRFKHQRQLSLPLTQSKSSPKRGFFREETDHLIKNLLGKRISKLIN
SSDELQDNFREFYDSWHSKSTDYHGLLLPHIEGPEIKVWAQRYLRWIPEAQILGGGQVAT
LSKLLEMMEEVQSLQEKIDERHHSQQA
PQAEAPCLLRNSARLSSLFPFALLQRHSSKPVL
PTSGWKALGDEDDLAKREDEFVDLGDV
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Synthesis of PIPs at the early endosome membrane