KEGG   Homo sapiens (human): 4534Help
Entry
4534              CDS       T01001                                 

Gene name
MTM1, CNM, MTMX, XLMTM
Definition
myotubularin 1 (EC:3.1.3.64)
Orthology
K01108  
phosphatidylinositol-3-phosphatase [EC:3.1.3.64]
Organism
hsa  Homo sapiens (human)
Pathway
Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Disease
H00700  
Centronuclear myopathy
Class
Metabolism; Carbohydrate metabolism; Inositol phosphate metabolism [PATH:hsa00562]
Environmental Information Processing; Signal transduction; Phosphatidylinositol signaling system [PATH:hsa04070]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xq28
AA seq 603 aa AA seqDB search
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIK
GRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLR
FALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN
HHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIV
RCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV
ADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLF
NCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR
WNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
THF
NT seq 1812 nt NT seq  +upstreamnt  +downstreamnt
atggcttctgcatcaacttctaaatataattcacactccttggagaatgagtctattaag
aggacgtctcgagatggagtcaatcgagatctcactgaggctgttcctcgacttccagga
gaaacactaatcactgacaaagaagttatttacatatgtcctttcaatggccccattaag
ggaagagtttacatcacaaattatcgtctttatttaagaagtttggaaacggattcttct
ctaatacttgatgttcctctgggtgtgatctcgagaattgaaaaaatgggaggcgcgaca
agtagaggagaaaattcctatggtctagatattacttgtaaagacatgagaaacctgagg
ttcgctttgaaacaggaaggccacagcagaagagatatgtttgagatcctcacgagatac
gcgtttcccctggctcacagtctgccattatttgcatttttaaatgaagaaaagtttaac
gtggatggatggacagtttacaatccagtggaagaatacaggaggcagggcttgcccaat
caccattggagaataacttttattaataagtgctatgagctctgtgacacttaccctgct
cttttggtggttccgtatcgtgcctcagatgatgacctccggagagttgcaacttttagg
tcccgaaatcgaattccagtgctgtcatggattcatccagaaaataagacggtcattgtg
cgttgcagtcagcctcttgtcggtatgagtgggaaacgaaataaagatgatgagaaatat
ctcgatgttatcagggagactaataaacaaatttctaaactcaccatttatgatgcaaga
cccagcgtaaatgcagtggccaacaaggcaacaggaggaggatatgaaagtgatgatgca
tatcataacgccgaacttttcttcttagacattcataatattcatgttatgcgggaatct
ttaaaaaaagtgaaggacattgtttatcctaatgtagaagaatctcattggttgtccagt
ttggagtctactcattggttagaacatatcaagctcgttttgacaggagccattcaagta
gcagacaaagtttcttcagggaagagttcagtgcttgtgcattgcagtgacggatgggac
aggactgctcagctgacatccttggccatgctgatgttggatagcttctataggagcatt
gaagggttcgaaatactggtacaaaaagaatggataagttttggacataaatttgcatct
cgaataggtcatggtgataaaaaccacaccgatgctgaccgttctcctatttttctccag
tttattgattgtgtgtggcaaatgtcaaaacagttccctacagcttttgaattcaatgaa
caatttttgattataattttggatcatctgtatagttgccgatttggtactttcttattc
aactgtgaatctgctcgagaaagacagaaggttacagaaaggactgtttctttatggtca
ctgataaacagtaataaagaaaaattcaaaaaccccttctatactaaagaaatcaatcga
gttttatatccagttgccagtatgcgtcacttggaactctgggtgaattactacattaga
tggaaccccaggatcaagcaacaacagccgaatccagtggagcagcgttacatggagctc
ttagccttacgcgacgaatacataaagcggcttgaggaactgcagctcgccaactctgcc
aagctttctgatcccccaacttcaccttccagtccttcgcaaatgatgccccatgtgcaa
actcacttctga

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