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Protein

Myotilin

Gene

Myot

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 3 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 (By similarity).By similarity

GO - Molecular functioni

Complete GO annotation...

Keywords - Molecular functioni

Muscle protein

Keywords - Ligandi

Actin-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Myotilin
Alternative name(s):
Myofibrillar titin-like Ig domains protein
Titin immunoglobulin domain protein
Gene namesi
Name:Myot
Synonyms:Myo, Ttid
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Chromosome 18

Organism-specific databases

MGIiMGI:1889800. Myot.

Subcellular locationi

GO - Cellular componenti

  • cytoskeleton Source: UniProtKB-SubCell
  • sarcolemma Source: UniProtKB-SubCell
  • Z disc Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Disruption phenotypei

No visible phenotype. Mutant mice develop normally, have a normal life span, and their muscle capacity does not significantly differ from wild-type animals, even after prolonged physical stress.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 496496MyotilinPRO_0000072688Add
BLAST

Proteomic databases

MaxQBiQ9JIF9.
PRIDEiQ9JIF9.

PTM databases

PhosphoSiteiQ9JIF9.

Expressioni

Tissue specificityi

Expressed in skeletal muscle (at protein level).1 Publication

Gene expression databases

BgeeiQ9JIF9.
CleanExiMM_MYOT.
ExpressionAtlasiQ9JIF9. baseline and differential.
GenevisibleiQ9JIF9. MM.

Interactioni

Subunit structurei

Homodimer. Interacts with ACTA1, ACTN1, FLNA, FLNB, FLNC, and MYOZ2. Interacts with the C-terminal region of MYOZ1 (By similarity).By similarity

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000025349.

Structurei

3D structure databases

ProteinModelPortaliQ9JIF9.
SMRiQ9JIF9. Positions 214-447.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini248 – 33386Ig-like C2-type 1Add
BLAST
Domaini347 – 43993Ig-like C2-type 2Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni78 – 14972Necessary for interaction with ACTN1By similarityAdd
BLAST
Regioni213 – 496284Necessary for interaction with ACTA1By similarityAdd
BLAST
Regioni213 – 491279Necessary for interaction with FLNCBy similarityAdd
BLAST

Sequence similaritiesi

Belongs to the myotilin/palladin family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat

Phylogenomic databases

eggNOGiNOG147321.
GeneTreeiENSGT00790000122999.
HOGENOMiHOG000028074.
HOVERGENiHBG066530.
InParanoidiQ9JIF9.
OMAiDSVKLEC.
OrthoDBiEOG77WWBP.
PhylomeDBiQ9JIF9.

Family and domain databases

Gene3Di2.60.40.10. 3 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. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9JIF9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFNYERPKHF IQPQNPCGSR LQPPGPEVSG FPSQTKQSSI VIQPRQCTEQ
60 70 80 90 100
RFSASSTVSS HITVSSSAYP APQQLAGPNP GQKVTATYNQ SPASFLSSIL
110 120 130 140 150
PSQPDYCNSK IPSTVDSNYQ QSSVNQPVNA MSSQAANARP TPKTPDHEIQ
160 170 180 190 200
GSKEALIQDL ERKLKCKDTL LHNGNQRLTY EEKMARRLLG PQNAAAVFQA
210 220 230 240 250
QNSDVQDSPQ HNPEQARLHV PTSQVRSRSS SRAEANDQDA IQEKFYPPRF
260 270 280 290 300
IQVPENMSIE EGRFCRMDFK VSGLPAPDVS WYLNGRPVQS DELHKMIVSE
310 320 330 340 350
KGFHSLIFEV VRASDAGPYA CVARNRAGEA TFTVQLDVLA KEHKRAPMFI
360 370 380 390 400
FKPQSKKVFE GETVKLECQI SAIPPPKLFW KRNNEMVQFN TDRISLYHDN
410 420 430 440 450
AGRVTLLIKD VNKKDAGWYT VSAVNEAGVT TCNTRLDVTA RPIQTLPAPK
460 470 480 490
QLRVRPTFSK YLALNGRGLD VKQAFNPEGE FQRLAAQSGL YESEEL
Length:496
Mass (Da):55,316
Last modified:October 1, 2000 - v1
Checksum:iBC4E2C0537F091D3
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF230979 mRNA. Translation: AAF76465.1.
BC016214 mRNA. Translation: AAH16214.1.
CCDSiCCDS29228.1.
RefSeqiNP_001028793.1. NM_001033621.3.
XP_006526196.1. XM_006526133.2.
UniGeneiMm.143804.

Genome annotation databases

EnsembliENSMUST00000025349; ENSMUSP00000025349; ENSMUSG00000024471.
ENSMUST00000115498; ENSMUSP00000111160; ENSMUSG00000024471.
GeneIDi58916.
KEGGimmu:58916.
UCSCiuc008euw.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF230979 mRNA. Translation: AAF76465.1.
BC016214 mRNA. Translation: AAH16214.1.
CCDSiCCDS29228.1.
RefSeqiNP_001028793.1. NM_001033621.3.
XP_006526196.1. XM_006526133.2.
UniGeneiMm.143804.

3D structure databases

ProteinModelPortaliQ9JIF9.
SMRiQ9JIF9. Positions 214-447.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000025349.

PTM databases

PhosphoSiteiQ9JIF9.

Proteomic databases

MaxQBiQ9JIF9.
PRIDEiQ9JIF9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000025349; ENSMUSP00000025349; ENSMUSG00000024471.
ENSMUST00000115498; ENSMUSP00000111160; ENSMUSG00000024471.
GeneIDi58916.
KEGGimmu:58916.
UCSCiuc008euw.1. mouse.

Organism-specific databases

CTDi9499.
MGIiMGI:1889800. Myot.

Phylogenomic databases

eggNOGiNOG147321.
GeneTreeiENSGT00790000122999.
HOGENOMiHOG000028074.
HOVERGENiHBG066530.
InParanoidiQ9JIF9.
OMAiDSVKLEC.
OrthoDBiEOG77WWBP.
PhylomeDBiQ9JIF9.

Miscellaneous databases

NextBioi314480.
PROiQ9JIF9.
SOURCEiSearch...

Gene expression databases

BgeeiQ9JIF9.
CleanExiMM_MYOT.
ExpressionAtlasiQ9JIF9. baseline and differential.
GenevisibleiQ9JIF9. MM.

Family and domain databases

Gene3Di2.60.40.10. 3 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. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEiPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A."
    Mologni L., Salmikangas P., Fougerousse F., Beckmann J.S., Carpen O.
    Mech. Dev. 103:121-125(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Muscle.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: FVB/N.
    Tissue: Mammary gland.
  3. "Targeted deletion of the muscular dystrophy gene myotilin does not perturb muscle structure or function in mice."
    Moza M., Mologni L., Trokovic R., Faulkner G., Partanen J., Carpen O.
    Mol. Cell. Biol. 27:244-252(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.

Entry informationi

Entry nameiMYOTI_MOUSE
AccessioniPrimary (citable) accession number: Q9JIF9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: October 1, 2000
Last modified: June 24, 2015
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.