Hs05658960_cn

• Gene Symbol: MTM1
• Assay Reference Genome Location: Chr.X:150565178 on build GRCh38
• Cytoband: Xq28

Target Gene Details

• Entrez Gene ID: 4534
• Gene Name: myotubularin 1
• Gene Aliases: CNM, MTMX, XLMTM
• Location: Chr.X:150562658-150673143 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTM1	XM_005274687.2			XP_005274744.1
	XM_011531172.1			XP_011529474.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv508810	Chr.X:150498559 - 150582211 on Build GRCh38	Insertion	MTM1 MAMLD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

protein dephosphorylation
phosphatidylinositol biosynthetic process
endosome to lysosome transport
protein transport
negative regulation of TOR signaling
negative regulation of proteasomal ubiquitin-dependent protein catabolic process
peptidyl-tyrosine dephosphorylation
regulation of vacuole organization
intermediate filament organization
muscle cell cellular homeostasis
phosphatidylinositol dephosphorylation
mitochondrion distribution
positive regulation of skeletal muscle tissue growth
negative regulation of protein kinase B signaling
mitochondrion morphogenesis
negative regulation of autophagosome assembly

Function(s)

phosphatidylinositol-3-phosphatase activity
phosphoprotein phosphatase activity
protein tyrosine phosphatase activity
protein binding
intermediate filament binding
phosphatidylinositol binding
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity