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
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (12)   
   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 (6)   
   Pfam (6)   
All databases (92)   

Download RDF
DBGET integrated database retrieval system