MYOT

GENERAL INFORMATION

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Gene name

MYOT

Gene description

Myotilin

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA037733 , HPA037734
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

9499

UniProt

Q9UBF9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBF9

Antibodypedia

MYOT antibodies


PROTEIN BROWSER

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ENST00000239926
 
ENST00000421631
 
ENST00000515645
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MYOT-001 ENSP00000239926
ENST00000239926
Q9UBF9
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Show » Show » 498 55.4 No 0
MYOT-002 ENSP00000391185
ENST00000421631
Q9UBF9
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Show » Show » 314 35.1 No 0
MYOT-004 ENSP00000426281
ENST00000515645
B4DT68
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Show » Show » 383 42.9 No 0