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MYOT

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in skeletal muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA037733 , HPA037734
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Skeletal muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

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
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Predicted intracellular proteins
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 498 aa
55.4 kDa 		No 0
MYOT-002
ENSP00000391185
ENST00000421631
Q9UBF9 [Direct mapping]
Myotilin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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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]
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 314 aa
35.1 kDa 		No 0
MYOT-004
ENSP00000426281
ENST00000515645
B4DT68 [Direct mapping]
Myotilin; cDNA FLJ52421, highly similar to Myotilin
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0005515 [protein binding]
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 383 aa
42.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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