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Q9JIF9 (MYOTI_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myotilin
Alternative name(s):
Myofibrillar titin-like Ig domains protein
Titin immunoglobulin domain protein
Gene names
Name:Myot
Synonyms:Myo, Ttid
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length496 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Cell membranesarcolemma By similarity. Cytoplasmcytoskeleton By similarity. CytoplasmmyofibrilsarcomereZ line By similarity. Note: Sarcomeric, also localized to the sarcolemma. Colocalizes with MYOZ1 at the Z-lines of skeletal muscle By similarity.

Tissue specificity

Expressed in skeletal muscle (at protein level). Ref.3

Disruption phenotype

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. Ref.3

Sequence similarities

Belongs to the myotilin/palladin family.

Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

Ontologies

Keywords
   Cellular componentCell membrane
Cytoplasm
Cytoskeleton
Membrane
   DomainImmunoglobulin domain
Repeat
   LigandActin-binding
   Molecular functionMuscle protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentZ disc

Inferred from direct assay PubMed 19047374. Source: MGI

cytoskeleton

Inferred from electronic annotation. Source: UniProtKB-SubCell

sarcolemma

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionalpha-actinin binding

Inferred from sequence orthology PubMed 10958653. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 496496Myotilin
PRO_0000072688

Regions

Domain248 – 33386Ig-like C2-type 1
Domain347 – 43993Ig-like C2-type 2
Region78 – 14972Necessary for interaction with ACTN1 By similarity
Region213 – 496284Necessary for interaction with ACTA1 By similarity
Region213 – 491279Necessary for interaction with FLNC By similarity

Sequences

Sequence LengthMass (Da)Tools
Q9JIF9 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: BC4E2C0537F091D3

FASTA49655,316
        10         20         30         40         50         60 
MFNYERPKHF IQPQNPCGSR LQPPGPEVSG FPSQTKQSSI VIQPRQCTEQ RFSASSTVSS 

        70         80         90        100        110        120 
HITVSSSAYP APQQLAGPNP GQKVTATYNQ SPASFLSSIL PSQPDYCNSK IPSTVDSNYQ 

       130        140        150        160        170        180 
QSSVNQPVNA MSSQAANARP TPKTPDHEIQ GSKEALIQDL ERKLKCKDTL LHNGNQRLTY 

       190        200        210        220        230        240 
EEKMARRLLG PQNAAAVFQA QNSDVQDSPQ HNPEQARLHV PTSQVRSRSS SRAEANDQDA 

       250        260        270        280        290        300 
IQEKFYPPRF IQVPENMSIE EGRFCRMDFK VSGLPAPDVS WYLNGRPVQS DELHKMIVSE 

       310        320        330        340        350        360 
KGFHSLIFEV VRASDAGPYA CVARNRAGEA TFTVQLDVLA KEHKRAPMFI FKPQSKKVFE 

       370        380        390        400        410        420 
GETVKLECQI SAIPPPKLFW KRNNEMVQFN TDRISLYHDN AGRVTLLIKD VNKKDAGWYT 

       430        440        450        460        470        480 
VSAVNEAGVT TCNTRLDVTA RPIQTLPAPK QLRVRPTFSK YLALNGRGLD VKQAFNPEGE 

       490 
FQRLAAQSGL YESEEL 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF230979 mRNA. Translation: AAF76465.1.
BC016214 mRNA. Translation: AAH16214.1.
CCDSCCDS29228.1.
RefSeqNP_001028793.1. NM_001033621.3.
XP_006526196.1. XM_006526133.1.
UniGeneMm.143804.

3D structure databases

ProteinModelPortalQ9JIF9.
SMRQ9JIF9. Positions 247-447.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ9JIF9.

Proteomic databases

MaxQBQ9JIF9.
PRIDEQ9JIF9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000025349; ENSMUSP00000025349; ENSMUSG00000024471.
ENSMUST00000115498; ENSMUSP00000111160; ENSMUSG00000024471.
GeneID58916.
KEGGmmu:58916.
UCSCuc008euw.1. mouse.

Organism-specific databases

CTD9499.
MGIMGI:1889800. Myot.

Phylogenomic databases

eggNOGNOG147321.
GeneTreeENSGT00690000101977.
HOGENOMHOG000028074.
HOVERGENHBG066530.
InParanoidQ9JIF9.
OMADSVKLEC.
OrthoDBEOG77WWBP.
PhylomeDBQ9JIF9.

Gene expression databases

ArrayExpressQ9JIF9.
BgeeQ9JIF9.
CleanExMM_MYOT.
GenevestigatorQ9JIF9.

Family and domain databases

Gene3D2.60.40.10. 3 hits.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamPF07679. I-set. 2 hits.
[Graphical view]
SMARTSM00409. IG. 1 hit.
SM00408. IGc2. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio314480.
PROQ9JIF9.
SOURCESearch...

Entry information

Entry nameMYOTI_MOUSE
AccessionPrimary (citable) accession number: Q9JIF9
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2005
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot