MYOT Gene (Protein Coding)

Myotilin

GC05P137867
GIFtS:
41
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 s... See more...

Aliases for MYOT Gene

Aliases for MYOT Gene

  • Myotilin 2 3 4 5
  • Titin Immunoglobulin Domain Protein (Myotilin) 2 3
  • Myofibrillar Titin-Like Ig Domains Protein 3 4
  • 57 KDa Cytoskeletal Protein 3 4
  • TTID 3 4
  • Limb-Girdle Muscular Dystrophy 1A (Autosomal Dominant) 2
  • Titin Immunoglobulin Domain Protein 4
  • LGMD1A 3
  • LGMD1 3
  • MFM3 3
  • TTOD 3
  • MYOT 5

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 Myopathy, Myofibrillar, 3 and Myopathy, Spheroid Body. Gene Ontology (GO) annotations related to this gene include actin binding and alpha-actinin binding. An important paralog of this gene is PALLD.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MYOT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYOT Gene

Genomics for MYOT Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MYOT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYOT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYOT

Top Transcription factor binding sites by QIAGEN in the MYOT gene promoter:
  • aMEF-2
  • C/EBPalpha
  • MEF-2
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for MYOT Gene

Genomic Locations for MYOT Gene
chr5:137,867,282-137,887,851
(GRCh38/hg38)
Size:
20,570 bases
Orientation:
Plus strand
chr5:137,203,480-137,223,540
(GRCh37/hg19)
Size:
20,061 bases
Orientation:
Plus strand

Genomic View for MYOT Gene

Genes around MYOT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOT Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYOT Gene

Proteins for MYOT Gene

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  • 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

Protein Expression for MYOT Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYOT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYOT Gene

Domains & Families for MYOT Gene

Gene Families for MYOT Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MYOT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYOT Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52421, highly similar to Myotilin (B4DT68_HUMAN)
  • Titin immunoglobulin domain protein (MYOTI_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBF9

UniProtKB/Swiss-Prot:

MYOTI_HUMAN :
  • Belongs to the myotilin/palladin family.
Family:
  • Belongs to the myotilin/palladin family.
genes like me logo Genes that share domains with MYOT: view

Function for MYOT Gene

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  2. CRISPR
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Molecular function for MYOT Gene

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.
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

Phenotypes From GWAS Catalog for MYOT Gene

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:0008046 axon guidance receptor activity IBA 21873635
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
genes like me logo Genes that share phenotypes with MYOT: view

Human Phenotype Ontology for MYOT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYOT Gene

MGI Knock Outs for MYOT:
  • Myot Myot<tm1.1Moza>

Animal Model Products

CRISPR Products

miRNA for MYOT Gene

miRTarBase miRNAs that target MYOT

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOT

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 (PubMed:10369880). Colocalizes with MYOZ1 at the Z-lines in skeletal muscle (PubMed:16076904). {ECO:0000269 PubMed:10369880, ECO:0000269 PubMed:16076904}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOT gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 3
mitochondrion 2
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MYOT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0015629 actin cytoskeleton TAS 10369880
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MYOT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYOT Gene

Pathways & Interactions for MYOT Gene

PathCards logo

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
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IBA 21873635
GO:0007411 axon guidance IEA --
GO:0050808 synapse organization IBA 21873635
genes like me logo Genes that share ontologies with MYOT: view

No data available for Pathways by source and SIGNOR curated interactions for MYOT Gene

Drugs & Compounds for MYOT Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MYOT Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MYOT Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYOT

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

Expression for MYOT Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYOT Gene

mRNA expression in normal human tissues for MYOT Gene
mRNA expression by GTEx for MYOT GenemRNA expression by BioGPS 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 (x44.9).

Protein differential expression in normal tissues from HIPED for MYOT Gene

This gene is overexpressed in Tonsil (34.5) and Esophagus (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYOT Gene



Protein tissue co-expression partners for MYOT Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYOT

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.

Evidence on tissue expression from TISSUES for MYOT Gene

  • Muscle(4.9)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Heart(4.1)
  • Skin(2.3)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYOT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • vocal cord
Thorax:
  • clavicle
  • esophagus
  • heart
  • heart valve
  • scapula
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • arm
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns 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 30 31
  • 99.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia MYOT 30 31
  • 92.7 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia MYOT 30 31
  • 92.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Myot 30
  • 87.84 (n)
Mouse
(Mus musculus)
 Mammalia Myot 30 17 31
  • 87.23 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 84 (a)
 OneToMany
-- 31
  • 3 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia MYOT 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves MYOT 30
  • 70.57 (n)
TITIN 31
  • 2 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia MYOT 31
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia myot 30
  • 59.66 (n)
Str.3561 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.18672 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC100329862 30
  • 51.55 (n)
MYOT 31
  • 30 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.4426 31
  • 22 (a)
 ManyToMany
Species where no ortholog for MYOT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYOT: view image

Paralogs for MYOT Gene

Paralogs for MYOT Gene

(6) SIMAP similar genes for MYOT Gene using alignment to 2 proteins:

  • MYOTI_HUMAN
  • B4DT68_HUMAN
genes like me logo Genes that share paralogs with MYOT: view

Variants for MYOT Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYOT Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
641132 Uncertain Significance: Myofibrillar myopathy 3 137,882,073(+) G/C MISSENSE_VARIANT
650010 Uncertain Significance: Myofibrillar myopathy 3 137,886,162(+) T/C MISSENSE_VARIANT
655808 Uncertain Significance: Myofibrillar myopathy 3 137,875,864(+) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
657395 Uncertain Significance: Myofibrillar myopathy 3 137,886,182(+) G/A MISSENSE_VARIANT
657688 Uncertain Significance: Myofibrillar myopathy 3 137,870,737(+) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MYOT Gene

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

Variant ID Type Subtype PubMed ID
esv3606912 CNV gain 21293372
esv3606913 CNV gain 21293372
nsv830501 CNV gain 17160897

Variation tolerance for MYOT Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYOT Gene

Human Gene Mutation Database (HGMD)
MYOT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOT

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYOT Gene

MalaCards: The human disease database

(63) MalaCards diseases for MYOT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYOT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYOTI_HUMAN
  • Myopathy, myofibrillar, 3 (MFM3) [MIM:609200]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM3 is 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:10958653, ECO:0000269 PubMed:12428213, 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.

Additional Disease Information for MYOT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MYOT: view

No data available for Genatlas for MYOT Gene

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 … Carpén O (Human molecular genetics 1999) 2 3 4 23
  2. TTID: A novel gene at 5q31 encoding a protein with titin-like features. (PMID: 10486214) Godley LA … Le Beau MM (Genomics 1999) 2 3 4 23
  3. Solution structure of the first immunoglobulin domain of human myotilin. (PMID: 19418025) Heikkinen O … Kilpeläinen I (Journal of biomolecular NMR 2009) 3 4 23
  4. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PMID: 16076904) Gontier Y … Borradori L (Journal of cell science 2005) 3 4 23
  5. A mutation in myotilin causes spheroid body myopathy. (PMID: 16380616) Foroud T … Nichols WC (Neurology 2005) 3 4 23

ExternalLinks

View latest publications for MYOT gene in Mastermind

Products for MYOT Gene

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Sources for MYOT Gene