Cell atlas - MYOT - The Human Protein Atlas

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MYOT

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TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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GENERAL INFORMATION
Gene name	MYOT
Gene description	Myotilin
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Not detected
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	MYOT (HGNC Symbol)
Synonyms	LGMD1, LGMD1A, TTID
Description	Myotilin (HGNC Symbol)
Entrez gene summary	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]
Chromosome	5
Cytoband	q31.2
Chromosome location (bp)	137867791 - 137887851
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000120729 (version 83.38)
Entrez gene	9499
UniProt	Q9UBF9 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UBF9
Antibodypedia	MYOT antibodies

PROTEIN BROWSER

MYOT-001	MYOT-002	MYOT-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MYOT-001 ENSP00000239926 ENST00000239926	A0A0C4DFM5 [Direct mapping] Myotilin; Myotilin, isoform CRA_b Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	498 aa 55.4 kDa	No	0
MYOT-002 ENSP00000391185 ENST00000421631	Q9UBF9 [Direct mapping] Myotilin Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003779 [actin binding] GO:0005515 [protein binding] GO:0006936 [muscle contraction] GO:0008307 [structural constituent of muscle] GO:0015629 [actin cytoskeleton] GO:0030018 [Z disc] GO:0042383 [sarcolemma] GO:0051393 [alpha-actinin binding] Show all	314 aa 35.1 kDa	No	0
MYOT-004 ENSP00000426281 ENST00000515645	B4DT68 [Direct mapping] Myotilin; cDNA FLJ52421, highly similar to Myotilin Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005515 [protein binding] Show all	383 aa 42.9 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.