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Aliases for MYOT Gene

Aliases for MYOT Gene

  • Myotilin 2 3
  • Titin Immunoglobulin Domain Protein (Myotilin) 2 3
  • Myofibrillar Titin-Like Ig Domains Protein 3 4
  • 57 KDa Cytoskeletal Protein 3 4
  • TTID 3 4
  • MFM3 3 6
  • TTOD 3 6
  • Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant) 2
  • Titin Immunoglobulin Domain Protein 4
  • LGMD1A 3
  • LGMD1 3

External Ids for MYOT Gene

Previous HGNC Symbols for MYOT Gene

  • TTID
  • LGMD1A
  • LGMD1

Previous GeneCards Identifiers for MYOT Gene

  • GC05P137232
  • GC05P137233
  • GC05P137203
  • GC05P132395

Summaries for MYOT Gene

Entrez Gene Summary for MYOT Gene

  • This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]

GeneCards Summary for MYOT Gene

MYOT (Myotilin) is a Protein Coding gene. Diseases associated with MYOT include muscular dystrophy, limb-girdle, type 1a and myopathy, myofibrillar, 3. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is MYPN.

UniProtKB/Swiss-Prot for MYOT Gene

  • Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.

Gene Wiki entry for MYOT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOT Gene

Genomics for MYOT Gene

Regulatory Elements for MYOT Gene

Genomic Location for MYOT Gene

Start:
137,867,791 bp from pter
End:
137,887,851 bp from pter
Size:
20,061 bases
Orientation:
Plus strand

Genomic View for MYOT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYOT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOT Gene

Proteins for MYOT Gene

  • Protein details for MYOT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBF9-MYOTI_HUMAN
    Recommended name:
    Myotilin
    Protein Accession:
    Q9UBF9
    Secondary Accessions:
    • A0A4R6
    • B4DT79

    Protein attributes for MYOT Gene

    Size:
    498 amino acids
    Molecular mass:
    55395 Da
    Quaternary structure:
    • Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1.

    Three dimensional structures from OCA and Proteopedia for MYOT Gene

    Alternative splice isoforms for MYOT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYOT Gene

Proteomics data for MYOT Gene at MOPED

Post-translational modifications for MYOT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOT Gene

No data available for DME Specific Peptides for MYOT Gene

Domains for MYOT Gene

Gene Families for MYOT Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing

Protein Domains for MYOT Gene

Suggested Antigen Peptide Sequences for MYOT Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBF9

UniProtKB/Swiss-Prot:

MYOTI_HUMAN :
  • Q9UBF9
Domain:
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the myotilin/palladin family.
genes like me logo Genes that share domains with MYOT: view

Function for MYOT Gene

Molecular function for MYOT Gene

GENATLAS Biochemistry: myotilin,cytoskeletal protein,expressed in skeletal and cardiac muscle,colocalizing and interacting with alpha-actinin in the sarcomeric I bands,also expressed in the sarcolemmal membrane
UniProtKB/Swiss-Prot Function: Component of a complex of multiple actin cross-linking proteins. Involved in the control of myofibril assembly and stability at the Z lines in muscle cells.

Gene Ontology (GO) - Molecular Function for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 11038172
GO:0008307 structural constituent of muscle TAS 10958653
GO:0051393 alpha-actinin binding IDA 10958653
genes like me logo Genes that share ontologies with MYOT: view

Phenotypes for MYOT Gene

genes like me logo Genes that share phenotypes with MYOT: view

Animal Models for MYOT Gene

MGI Knock Outs for MYOT:

miRNA for MYOT Gene

miRTarBase miRNAs that target MYOT

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for MYOT Gene

Localization for MYOT Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOT Gene

Cell membrane, sarcolemma. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere, Z line. Note=Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines in skeletal muscle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOT Gene COMPARTMENTS Subcellular localization image for MYOT gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005886 plasma membrane --
GO:0015629 actin cytoskeleton TAS 10369880
GO:0030018 Z disc IMP 10958653
GO:0042383 sarcolemma IEA --
genes like me logo Genes that share ontologies with MYOT: view

Pathways for MYOT Gene

SuperPathways for MYOT Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10958653
genes like me logo Genes that share ontologies with MYOT: view

No data available for Pathways by source for MYOT Gene

Transcripts for MYOT Gene

Unigene Clusters for MYOT Gene

Myotilin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYOT Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: - - -
SP2: - - - - - - - - - - -
SP3: - - - - -
SP4:
SP5: -
SP6: - - - - -
SP7: - -
SP8: - -

Relevant External Links for MYOT Gene

GeneLoc Exon Structure for
MYOT
ECgene alternative splicing isoforms for
MYOT

Expression for MYOT Gene

mRNA expression in normal human tissues for MYOT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOT Gene

This gene is overexpressed in Muscle - Skeletal (44.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYOT Gene

SOURCE GeneReport for Unigene cluster for MYOT Gene Hs.84665

mRNA Expression by UniProt/SwissProt for MYOT Gene

Q9UBF9-MYOTI_HUMAN
Tissue specificity: Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.
genes like me logo Genes that share expressions with MYOT: view

Orthologs for MYOT Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYOT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYOT 35
  • 99.65 (n)
  • 99.48 (a)
MYOT 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYOT 35
  • 92.3 (n)
  • 92.57 (a)
MYOT 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOT 35
  • 92.7 (n)
  • 92.97 (a)
MYOT 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myot 35
  • 87.23 (n)
  • 89.72 (a)
Myot 16
Myot 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 3 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MYOT 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myot 35
  • 87.84 (n)
  • 91.13 (a)
chicken
(Gallus gallus)
Aves MYOT 35
  • 70.57 (n)
  • 67.28 (a)
TITIN 36
  • 2 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MYOT 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18672 35
tropical clawed frog
(Silurana tropicalis)
Amphibia myot 35
  • 59.66 (n)
  • 54.56 (a)
Str.3561 35
zebrafish
(Danio rerio)
Actinopterygii LOC100329862 35
  • 51.55 (n)
  • 43.82 (a)
MYOT 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4426 36
  • 22 (a)
ManyToMany
Species with no ortholog for MYOT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOT Gene

ENSEMBL:
Gene Tree for MYOT (if available)
TreeFam:
Gene Tree for MYOT (if available)

Paralogs for MYOT Gene

Paralogs for MYOT Gene

Selected SIMAP similar genes for MYOT Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MYOT: view

Variants for MYOT Gene

Sequence variations from dbSNP and Humsavar for MYOT Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs700611 -- 137,882,824(+) ATCCT(C/T)ATTTT intron-variant
rs3764812 -- 137,887,166(-) TAACC(A/G)AATTG intron-variant
rs4835657 -- 137,887,379(+) GAAGA(A/T)CTTTA reference, missense
rs10069992 -- 137,884,003(+) ACTCA(C/T)AGTAT intron-variant
rs34196905 -- 137,882,842(+) TTTCC(-/C)TTATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYOT Gene

Variant ID Type Subtype PubMed ID
nsv830501 CNV Gain 17160897

Relevant External Links for MYOT Gene

HapMap Linkage Disequilibrium report
MYOT
Human Gene Mutation Database (HGMD)
MYOT
Locus Specific Mutation Databases (LSDB)
MYOT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOT Gene

Disorders for MYOT Gene

(3) OMIM Diseases for MYOT Gene (604103)

UniProtKB/Swiss-Prot

MYOTI_HUMAN
  • Limb-girdle muscular dystrophy 1A (LGMD1A) [MIM:159000]: An autosomal dominant degenerative myopathy with onset within a mean age of 28 years. Characterized by progressive skeletal muscle weakness of the hip and shoulder girdles, later progressing to include distal weakness, as well as a distinctive dysarthric pattern of speech. Affected muscle exhibits disorganization and streaming of the Z-line. {ECO:0000269 PubMed:10958653, ECO:0000269 PubMed:12428213}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A neuromuscular disorder characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, hyporeflexia, cardiomyopathy and peripheral neuropathy in some patients. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of myotilin and other ectopically expressed proteins and prominent congophilic deposits. {ECO:0000269 PubMed:15111675}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spheroid body myopathy (SBM) [MIM:182920]: Autosomal dominant form of myofibrillar myopathy (MFM), characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. There is no evidence of cardiomyopathy. Muscle biopsy shows spheroid bodies within the type I muscle fibers. {ECO:0000269 PubMed:16380616}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MYOT Gene

(15) Novoseek inferred disease relationships for MYOT Gene

Disease -log(P) Hits PubMed IDs
lgmd1a 97.7 15
spheroid body myopathy 95.1 3
lgmd2g 88.9 2
limb girdle 88.8 7
distal myopathies 88.6 5

Relevant External Links for MYOT

GeneTests
MYOT
GeneReviews
MYOT
Genetic Association Database (GAD)
MYOT
Human Genome Epidemiology (HuGE) Navigator
MYOT
genes like me logo Genes that share disorders with MYOT: view

Publications for MYOT Gene

  1. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. (PMID: 10369880) Salmikangas P. … Carpen O. (Hum. Mol. Genet. 1999) 2 3 4 23
  2. TTID: a novel gene at 5q31 encoding a protein with titin-like features. (PMID: 10486214) Godley L.A. … Le Beau M.M. (Genomics 1999) 2 3 4 23
  3. Myotilin is mutated in limb girdle muscular dystrophy 1A. (PMID: 10958653) Hauser M.A. … Speer M.C. (Hum. Mol. Genet. 2000) 3 4 23
  4. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. (PMID: 12499399) Salmikangas P. … Carpen O. (Hum. Mol. Genet. 2003) 3 4 23
  5. Mutations in myotilin cause myofibrillar myopathy. (PMID: 15111675) Selcen D. … Engel A.G. (Neurology 2004) 3 4 23

Products for MYOT Gene

Sources for MYOT Gene

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