Homo sapiens (human): 9499
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Entry
9499 CDS
T01001
Symbol
MYOT, LGMD1, LGMD1A, MFM3, TTID, TTOD
Name
(RefSeq) myotilin
KO
K19875
myotilin
Organism
hsa
Homo sapiens (human)
Pathway
hsa04820
Cytoskeleton in muscle cells
Disease
H00595
Myofibrillar myopathies
H01291
Spheroid body myopathy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
9499 (MYOT)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:
hsa04131
]
9499 (MYOT)
09183 Protein families: signaling and cellular processes
04812 Cytoskeleton proteins [BR:
hsa04812
]
9499 (MYOT)
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
I-set
Ig_3
ig
Ig_2
V-set
BiPBP_C
Ig_6
C2-set_2
PKcGMP_CC
Receptor_2B4
Motif
Other DBs
NCBI-GeneID:
9499
NCBI-ProteinID:
NP_006781
OMIM:
604103
HGNC:
12399
Ensembl:
ENSG00000120729
UniProt:
Q9UBF9
A0A0C4DFM5
Structure
PDB
LinkDB
All DBs
Position
5:137867860..137887851
Genome browser
AA seq
498 aa
AA seq
DB search
MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSS
HITMSSSAFPASPQQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNY
QQSSAGQPINAKPSQTANAKPIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLT
YEEKMARRLLGPQNAAAVFQAQDDSGAQDSQQHNSEHARLQVPTSQVRSRSTSRGDVNDQ
DAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPDVSWYLNGRTVQSDDLHKMIV
SEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPMFIYKPQSKKV
LEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW
YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPE
GEFQRLAAQSGLYESEEL
NT seq
1497 nt
NT seq
+upstream
nt +downstream
nt
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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integrated database retrieval system
