MTMR1

Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.^[5][6]

MTMR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5C16
Identifiers
Aliases	MTMR1, myotubularin related protein 1
External IDs	OMIM: 300171; MGI: 1858271; HomoloGene: 2840; GeneCards: MTMR1; OMA:MTMR1 - orthologs
EC number	3.1.3.64
Gene location (Human) Chr. X chromosome (human)[1] Band Xq28 Start 150,692,971 bp[1] End 150,765,108 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A7.3 Start 70,408,366 bp[2] End 70,462,802 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte buccal mucosa cell gingival epithelium middle temporal gyrus skin of thigh epithelium of nasopharynx Brodmann area 23 thymus amniotic fluid palpebral conjunctiva Top expressed in muscle of thigh neural layer of retina temporal muscle triceps brachii muscle dentate gyrus of hippocampal formation granule cell sternocleidomastoid muscle superior frontal gyrus digastric muscle primary visual cortex esophagus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein tyrosine phosphatase activity phosphatase activity hydrolase activity protein homodimerization activity phosphatidylinositol-3-phosphatase activity phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity phosphatidylinositol phosphate phosphatase activity Cellular component cytosol plasma membrane membrane cytoplasm Biological process phosphatidylinositol biosynthetic process peptidyl-tyrosine dephosphorylation phosphatidylinositol dephosphorylation lipid metabolism dephosphorylation regulation of phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8776 53332 Ensembl ENSG00000063601 ENSMUSG00000015214 UniProt Q13613 Q9Z2C4 RefSeq (mRNA) NM_001306144 NM_001306145 NM_003828 NM_176789 NM_001353990 NM_001353991 NM_001353992 NM_001353993 NM_001353994 NM_001353995 NM_001353996 NM_016985 NM_001313702 NM_001313703 NM_001313706 NM_001313707 NM_001313704 RefSeq (protein) NP_001293073 NP_001293074 NP_003819 NP_001340919 NP_001340920 NP_001340921 NP_001340922 NP_001340923 NP_001340924 NP_001340925 NP_001300631 NP_001300632 NP_001300633 NP_001300635 NP_001300636 NP_058681 Location (UCSC) Chr X: 150.69 – 150.77 Mb Chr X: 70.41 – 70.46 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined.^[6]