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Protein

Myotilin

Gene

MYOT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • alpha-actinin binding Source: MGI
  • structural constituent of muscle Source: ProtInc

GO - Biological processi

  • muscle contraction Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120729-MONOMER.

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

HGNCiHGNC:12399. MYOT.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: ProtInc
  • sarcolemma Source: UniProtKB-SubCell
  • Z disc Source: CACAO
Complete GO annotation...

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_02156955S → F in LGMD1A and MFM3. 2 Publications1
Natural variantiVAR_02157057T → I in LGMD1A; does not abolish interaction with ACTN1. 1 PublicationCorresponds to variant rs28937597dbSNPEnsembl.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 disc 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_02156955S → F in LGMD1A and MFM3. 2 Publications1
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.
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.

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.
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

WithEntry#Exp.IntActNotes
FLNCQ143156EBI-296701,EBI-489954
NME7Q9Y5B83EBI-296701,EBI-744782

GO - Molecular functioni

  • alpha-actinin binding Source: MGI

Protein-protein interaction databases

BioGridi114878. 11 interactors.
IntActiQ9UBF9. 8 interactors.
STRINGi9606.ENSP00000239926.

Structurei

Secondary structure

1498
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi249 – 251Combined sources3
Beta strandi259 – 262Combined sources4
Beta strandi267 – 272Combined sources6
Beta strandi274 – 277Combined sources4
Beta strandi280 – 285Combined sources6
Beta strandi288 – 290Combined sources3
Beta strandi294 – 296Combined sources3
Beta strandi298 – 301Combined sources4
Turni302 – 304Combined sources3
Beta strandi305 – 312Combined sources8
Helixi315 – 317Combined sources3
Beta strandi319 – 327Combined sources9
Beta strandi330 – 341Combined sources12
Beta strandi351 – 353Combined sources3
Beta strandi358 – 361Combined sources4
Beta strandi364 – 372Combined sources9
Beta strandi379 – 384Combined sources6
Beta strandi396 – 400Combined sources5
Beta strandi405 – 413Combined sources9
Helixi415 – 417Combined sources3
Beta strandi419 – 427Combined sources9
Beta strandi430 – 441Combined sources12

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...

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.
GeneTreeiENSGT00840000129779.
HOGENOMiHOG000028074.
HOVERGENiHBG066530.
InParanoidiQ9UBF9.
KOiK19875.
PhylomeDBiQ9UBF9.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 rs34717730dbSNPEnsembl.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 rs28937597dbSNPEnsembl.1
Natural variantiVAR_02157160S → C in MFM3. 1 Publication1
Natural variantiVAR_02157260S → F in MFM3. 1 Publication1
Natural variantiVAR_02953374K → Q.3 PublicationsCorresponds to variant rs41431944dbSNPEnsembl.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

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. 11 interactors.
IntActiQ9UBF9. 8 interactors.
STRINGi9606.ENSP00000239926.

PTM databases

iPTMnetiQ9UBF9.
PhosphoSitePlusiQ9UBF9.

Polymorphism and mutation databases

BioMutaiMYOT.
DMDMi311033402.

Proteomic databases

EPDiQ9UBF9.
PaxDbiQ9UBF9.
PeptideAtlasiQ9UBF9.
PRIDEiQ9UBF9.

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.
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.
GeneTreeiENSGT00840000129779.
HOGENOMiHOG000028074.
HOVERGENiHBG066530.
InParanoidiQ9UBF9.
KOiK19875.
PhylomeDBiQ9UBF9.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000120729-MONOMER.

Miscellaneous databases

ChiTaRSiMYOT. human.
EvolutionaryTraceiQ9UBF9.
GeneWikiiMyotilin.
GenomeRNAii9499.
PROiQ9UBF9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000120729.
CleanExiHS_MYOT.
ExpressionAtlasiQ9UBF9. baseline and differential.
GenevisibleiQ9UBF9. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00409. IG. 2 hits.
SM00408. IGc2. 2 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMYOTI_HUMAN
AccessioniPrimary (citable) accession number: Q9UBF9
Secondary accession number(s): A0A4R6, B4DT79
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: November 2, 2010
Last modified: November 30, 2016
This is version 148 of the entry and version 2 of the sequence. [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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.