KEGG   Homo sapiens (human): 9499Help
Entry
9499              CDS       T01001                                 

Gene name
MYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD
Definition
(RefSeq) myotilin
  KO
K19875  myotilin
Organism
hsa  Homo sapiens (human)
Disease
H00593  Limb-girdle muscular dystrophy (LGMD)
H00595  Myofibrillar myopathies (MFM)
H01291  Spheroid body myopathy (SBM)
Brite
Membrane trafficking [BR:hsa04131]
 Others
  Actin-binding proteins
   Others
    9499 (MYOT)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     9499 (MYOT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: I-set Ig_3 ig Ig_2 V-set BiPBP_C C2-set_2 Receptor_2B4
Motif
Other DBs
NCBI-GeneID: 9499
NCBI-ProteinID: NP_006781
OMIM: 604103
HGNC: 12399
Ensembl: ENSG00000120729
Vega: OTTHUMG00000129154
Pharos: Q9UBF9(Tbio)
UniProt: Q9UBF9 A0A0C4DFM5
Structure
PDB: 

Jmol
Position
5q31.2
AA seq 498 aa AA seqDB search
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSS
HITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNY
QQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLT
YEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ
DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIV
SEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKV
LEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW
YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE
GEFQRLAAQSGLYESEEL
NT seq 1497 nt NT seq  +upstreamnt  +downstreamnt
atgtttaactacgaacgtccaaaacacttcatccagtcccaaaacccatgtggctccaga
ttgcagcctcctggaccagaaacctccagcttctctagccagaccaaacagtcttccatt
atcatccagccccgccagtgtacagagcaaagattttctgcctcctcaacactgagctct
cacatcaccatgtcctcctctgctttccctgcttctccccagcagcatgctggctccaac
ccaggccaaagggttacaaccacctataaccagtccccagccagcttcctcagctccata
ttaccatcacagcctgattacaatagcagtaaaatcccttccgctatggattccaactat
caacagtcctcagctggccaacctataaatgcaaagccatcccaaactgcaaatgctaag
cccataccaagaactcctgatcatgaaatacaaggatcaaaagaagctttgattcaagat
ttggaaagaaagctgaaatgcaaggacacccttcttcataatggaaatcaacgtctaaca
tatgaagagaagatggctcgcagattgctaggaccacagaatgcagctgctgtgtttcaa
gctcaggatgacagtggtgcacaagactcgcagcaacacaactcagaacatgcgcgactg
caagttcctacatcacaagtaagaagtagatcaacctcaaggggagatgtgaatgatcag
gatgcaatccaggagaaattttacccaccacgtttcattcaagtgccagagaacatgtcg
attgatgaaggaagattctgcagaatggacttcaaagtgagtggactgccagctcctgat
gtgtcatggtatctaaatggaagaacagttcaatcagatgatttgcacaaaatgatagtg
tctgagaagggtcttcattcactcatctttgaagtagtcagagcttcagatgcaggggct
tatgcatgtgttgccaagaatagagcaggagaagccaccttcactgtgcagctggatgtc
cttgcaaaagaacataaaagagcaccaatgtttatctacaaaccacagagcaaaaaagtt
ttagagggagattcagtgaaactagaatgccagatctcggctatacctccaccaaagctt
ttctggaaaagaaataatgaaatggtacaattcaacactgaccgaataagcttatatcaa
gataacactggaagagttactttactgataaaagatgtaaacaagaaagatgctgggtgg
tatactgtgtcagcagttaatgaagctggagtgactacatgtaacacaagattagacgtt
acggcacgtccaaaccaaactcttccagctcctaagcagttacgggttcgaccaacattc
agcaaatatttagcacttaatgggaaaggtttgaatgtaaaacaagcttttaacccagaa
ggagaatttcagcgtttggcagctcaatctggactctatgaaagtgaagaactttaa

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