KEGG   Homo sapiens (human): 4534
Entry
4534              CDS       T01001                                 
Symbol
MTM1, CNM, CNMX, MTMX, XLMTM
Name
(RefSeq) myotubularin 1
  KO
K01108  myotubularin [EC:3.1.3.64 3.1.3.95]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00562  Inositol phosphate metabolism
hsa01100  Metabolic pathways
hsa04070  Phosphatidylinositol signaling system
Disease
H00700  Centronuclear myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00562 Inositol phosphate metabolism
    4534 (MTM1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04070 Phosphatidylinositol signaling system
    4534 (MTM1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    4534 (MTM1)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.3  Phosphoric-monoester hydrolases
    3.1.3.64  phosphatidylinositol-3-phosphatase
     4534 (MTM1)
    3.1.3.95  phosphatidylinositol-3,5-bisphosphate 3-phosphatase
     4534 (MTM1)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein tyrosine phosphatases (PTPs)
  Class I PTPs (Dual specificity phosphatases)
   Myotubularins
    4534 (MTM1)
SSDB
Motif
Pfam: Myotub-related GRAM DSPc 3-PAP Y_phosphatase Y_phosphatase3 Rad26-like_N
Other DBs
NCBI-GeneID: 4534
NCBI-ProteinID: NP_000243
OMIM: 300415
HGNC: 7448
Ensembl: ENSG00000171100
UniProt: Q13496
Position
X:150562653..150673143
AA seq 603 aa
MASASTSKYNSHSLENESIKRTSRDGVNRDLTEAVPRLPGETLITDKEVIYICPFNGPIK
GRVYITNYRLYLRSLETDSSLILDVPLGVISRIEKMGGATSRGENSYGLDITCKDMRNLR
FALKQEGHSRRDMFEILTRYAFPLAHSLPLFAFLNEEKFNVDGWTVYNPVEEYRRQGLPN
HHWRITFINKCYELCDTYPALLVVPYRASDDDLRRVATFRSRNRIPVLSWIHPENKTVIV
RCSQPLVGMSGKRNKDDEKYLDVIRETNKQISKLTIYDARPSVNAVANKATGGGYESDDA
YHNAELFFLDIHNIHVMRESLKKVKDIVYPNVEESHWLSSLESTHWLEHIKLVLTGAIQV
ADKVSSGKSSVLVHCSDGWDRTAQLTSLAMLMLDSFYRSIEGFEILVQKEWISFGHKFAS
RIGHGDKNHTDADRSPIFLQFIDCVWQMSKQFPTAFEFNEQFLIIILDHLYSCRFGTFLF
NCESARERQKVTERTVSLWSLINSNKEKFKNPFYTKEINRVLYPVASMRHLELWVNYYIR
WNPRIKQQQPNPVEQRYMELLALRDEYIKRLEELQLANSAKLSDPPTSPSSPSQMMPHVQ
THF
NT seq 1812 nt   +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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (10)   
   KEGG COMPOUND (10)   
Chemical reaction (6)   
   KEGG ENZYME (2)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (44)   
   RefSeq(nuc) (26)   
   GenBank (9)   
   EMBL (9)   
Protein domain (7)   
   Pfam (7)   
All databases (118)   

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