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Protein

Myotilin

Gene

MYOT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • alpha-actinin binding Source: MGI
  • axon guidance receptor activity Source: GO_Central
  • structural constituent of muscle Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionActin-binding, Muscle protein

Names & Taxonomyi

Protein namesi
Recommended name:
Myotilin
Alternative name(s):
57 kDa cytoskeletal protein
Myofibrillar titin-like Ig domains protein
Titin immunoglobulin domain protein
Gene namesi
Name:MYOT
Synonyms:TTID
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000120729.9
HGNCiHGNC:12399 MYOT
MIMi604103 gene
neXtProtiNX_Q9UBF9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 1A (LGMD1A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:159000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02157057T → I in LGMD1A; does not abolish interaction with ACTN1. 1 PublicationCorresponds to variant dbSNP:rs28937597EnsemblClinVar.1
Myopathy, myofibrillar, 3 (MFM3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02157160S → C in MFM3. 1 Publication1
Natural variantiVAR_02157260S → F in MFM3. 1 Publication1
Natural variantiVAR_02157395S → I in MFM3. 1 Publication1
Spheroid body myopathy (SBM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:182920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02953239S → F in SBM. 1 Publication1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy, Myofibrillar myopathy

Organism-specific databases

DisGeNETi9499
GeneReviewsiMYOT
MalaCardsiMYOT
MIMi159000 phenotype
182920 phenotype
609200 phenotype
OpenTargetsiENSG00000120729
Orphaneti266 Autosomal dominant limb-girdle muscular dystrophy type 1A
98911 Distal myotilinopathy
268129 Spheroid body myopathy
PharmGKBiPA37064

Polymorphism and mutation databases

BioMutaiMYOT
DMDMi311033402

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000726871 – 498MyotilinAdd BLAST498

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei20Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ9UBF9
PaxDbiQ9UBF9
PeptideAtlasiQ9UBF9
PRIDEiQ9UBF9
ProteomicsDBi83962
83963 [Q9UBF9-2]

PTM databases

iPTMnetiQ9UBF9
PhosphoSitePlusiQ9UBF9

Expressioni

Tissue specificityi

Expressed in skeletal muscle (at protein level). Expressed in skeletal muscle, heart, bone marrow and thyroid gland.2 Publications

Gene expression databases

BgeeiENSG00000120729 Expressed in 112 organ(s), highest expression level in muscle of leg
CleanExiHS_MYOT
ExpressionAtlasiQ9UBF9 baseline and differential
GenevisibleiQ9UBF9 HS

Organism-specific databases

HPAiHPA037733
HPA037734

Interactioni

Subunit structurei

Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC and MYOZ2. Interacts with the C-terminal region of MYOZ1.5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114878, 13 interactors
IntActiQ9UBF9, 13 interactors
STRINGi9606.ENSP00000239926

Structurei

Secondary structure

1498
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UBF9
SMRiQ9UBF9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UBF9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini250 – 335Ig-like C2-type 1Add BLAST86
Domaini349 – 441Ig-like C2-type 2Add BLAST93

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni79 – 150Necessary for interaction with ACTN1Add BLAST72
Regioni215 – 498Necessary for interaction with ACTA11 PublicationAdd BLAST284
Regioni215 – 493Necessary for interaction with FLNCAdd BLAST279

Sequence similaritiesi

Belongs to the myotilin/palladin family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiENOG410IG16 Eukaryota
ENOG410ZZ78 LUCA
GeneTreeiENSGT00930000150888
HOGENOMiHOG000028074
HOVERGENiHBG066530
InParanoidiQ9UBF9
KOiK19875
PhylomeDBiQ9UBF9

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00409 IG, 2 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 2 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UBF9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFNYERPKHF IQSQNPCGSR LQPPGPETSS FSSQTKQSSI IIQPRQCTEQ
60 70 80 90 100
RFSASSTLSS HITMSSSAFP ASPKQHAGSN PGQRVTTTYN QSPASFLSSI
110 120 130 140 150
LPSQPDYNSS KIPSAMDSNY QQSSAGQPIN AKPSQTANAK PIPRTPDHEI
160 170 180 190 200
QGSKEALIQD LERKLKCKDT LLHNGNQRLT YEEKMARRLL GPQNAAAVFQ
210 220 230 240 250
AQDDSGAQDS QQHNSEHARL QVPTSQVRSR STSRGDVNDQ DAIQEKFYPP
260 270 280 290 300
RFIQVPENMS IDEGRFCRMD FKVSGLPAPD VSWYLNGRTV QSDDLHKMIV
310 320 330 340 350
SEKGLHSLIF EVVRASDAGA YACVAKNRAG EATFTVQLDV LAKEHKRAPM
360 370 380 390 400
FIYKPQSKKV LEGDSVKLEC QISAIPPPKL FWKRNNEMVQ FNTDRISLYQ
410 420 430 440 450
DNTGRVTLLI KDVNKKDAGW YTVSAVNEAG VTTCNTRLDV TARPNQTLPA
460 470 480 490
PKQLRVRPTF SKYLALNGKG LNVKQAFNPE GEFQRLAAQS GLYESEEL
Length:498
Mass (Da):55,395
Last modified:November 2, 2010 - v2
Checksum:i7F226DD43A0C611B
GO
Isoform 2 (identifier: Q9UBF9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.

Note: No experimental confirmation available.
Show »
Length:314
Mass (Da):35,147
Checksum:iF4B4033F166A94D2
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DFM5A0A0C4DFM5_HUMAN
Myotilin, isoform CRA_b
MYOT hCG_39937
498Annotation score:
B4DT68B4DT68_HUMAN
cDNA FLJ52421, highly similar to My...
MYOT
383Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03552033S → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_02953239S → F in SBM. 1 Publication1
Natural variantiVAR_04991450Q → R. Corresponds to variant dbSNP:rs34717730EnsemblClinVar.1
Natural variantiVAR_02156955S → F in LGMD1A and MFM3. 2 Publications1
Natural variantiVAR_02157057T → I in LGMD1A; does not abolish interaction with ACTN1. 1 PublicationCorresponds to variant dbSNP:rs28937597EnsemblClinVar.1
Natural variantiVAR_02157160S → C in MFM3. 1 Publication1
Natural variantiVAR_02157260S → F in MFM3. 1 Publication1
Natural variantiVAR_02953374K → Q3 PublicationsCorresponds to variant dbSNP:rs6890689Ensembl.1
Natural variantiVAR_02157395S → I in MFM3. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0414501 – 184Missing in isoform 2. 1 PublicationAdd BLAST184

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF133820 mRNA Translation: AAD29051.2
AF144477 mRNA Translation: AAD44754.1
AK300088 mRNA Translation: BAG61891.1
AC106791 Genomic DNA No translation available.
BC005376 mRNA Translation: AAH05376.1
CCDSiCCDS4194.1 [Q9UBF9-1]
CCDS47268.1 [Q9UBF9-2]
RefSeqiNP_001129412.1, NM_001135940.1 [Q9UBF9-2]
NP_001287840.1, NM_001300911.1
NP_006781.1, NM_006790.2
UniGeneiHs.84665

Genome annotation databases

EnsembliENST00000421631; ENSP00000391185; ENSG00000120729 [Q9UBF9-2]
GeneIDi9499
KEGGihsa:9499
UCSCiuc003lbv.4 human [Q9UBF9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF133820 mRNA Translation: AAD29051.2
AF144477 mRNA Translation: AAD44754.1
AK300088 mRNA Translation: BAG61891.1
AC106791 Genomic DNA No translation available.
BC005376 mRNA Translation: AAH05376.1
CCDSiCCDS4194.1 [Q9UBF9-1]
CCDS47268.1 [Q9UBF9-2]
RefSeqiNP_001129412.1, NM_001135940.1 [Q9UBF9-2]
NP_001287840.1, NM_001300911.1
NP_006781.1, NM_006790.2
UniGeneiHs.84665

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2KDGNMR-A249-344[»]
2KKQNMR-A344-449[»]
ProteinModelPortaliQ9UBF9
SMRiQ9UBF9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114878, 13 interactors
IntActiQ9UBF9, 13 interactors
STRINGi9606.ENSP00000239926

PTM databases

iPTMnetiQ9UBF9
PhosphoSitePlusiQ9UBF9

Polymorphism and mutation databases

BioMutaiMYOT
DMDMi311033402

Proteomic databases

EPDiQ9UBF9
PaxDbiQ9UBF9
PeptideAtlasiQ9UBF9
PRIDEiQ9UBF9
ProteomicsDBi83962
83963 [Q9UBF9-2]

Protocols and materials databases

DNASUi9499
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000421631; ENSP00000391185; ENSG00000120729 [Q9UBF9-2]
GeneIDi9499
KEGGihsa:9499
UCSCiuc003lbv.4 human [Q9UBF9-1]

Organism-specific databases

CTDi9499
DisGeNETi9499
EuPathDBiHostDB:ENSG00000120729.9
GeneCardsiMYOT
GeneReviewsiMYOT
HGNCiHGNC:12399 MYOT
HPAiHPA037733
HPA037734
MalaCardsiMYOT
MIMi159000 phenotype
182920 phenotype
604103 gene
609200 phenotype
neXtProtiNX_Q9UBF9
OpenTargetsiENSG00000120729
Orphaneti266 Autosomal dominant limb-girdle muscular dystrophy type 1A
98911 Distal myotilinopathy
268129 Spheroid body myopathy
PharmGKBiPA37064
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG16 Eukaryota
ENOG410ZZ78 LUCA
GeneTreeiENSGT00930000150888
HOGENOMiHOG000028074
HOVERGENiHBG066530
InParanoidiQ9UBF9
KOiK19875
PhylomeDBiQ9UBF9

Miscellaneous databases

ChiTaRSiMYOT human
EvolutionaryTraceiQ9UBF9
GeneWikiiMyotilin
GenomeRNAii9499
PROiPR:Q9UBF9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120729 Expressed in 112 organ(s), highest expression level in muscle of leg
CleanExiHS_MYOT
ExpressionAtlasiQ9UBF9 baseline and differential
GenevisibleiQ9UBF9 HS

Family and domain databases

Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
PfamiView protein in Pfam
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00409 IG, 2 hits
SM00408 IGc2, 2 hits
SUPFAMiSSF48726 SSF48726, 2 hits
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMYOTI_HUMAN
AccessioniPrimary (citable) accession number: Q9UBF9
Secondary accession number(s): A0A4R6, B4DT79
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 160 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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