Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9JIF9

- MYOTI_MOUSE

UniProt

Q9JIF9 - MYOTI_MOUSE

Protein

Myotilin

Gene

Myot

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    1. alpha-actinin binding Source: MGI

    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: Chromosome 18

    Organism-specific databases

    MGIiMGI:1889800. Myot.

    Subcellular locationi

    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.By similarity

    GO - Cellular componenti

    1. cytoskeleton Source: UniProtKB-SubCell
    2. sarcolemma Source: UniProtKB-SubCell
    3. Z disc Source: MGI

    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

    ArrayExpressiQ9JIF9.
    BgeeiQ9JIF9.
    CleanExiMM_MYOT.
    GenevestigatoriQ9JIF9.

    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

    Structurei

    3D structure databases

    ProteinModelPortaliQ9JIF9.
    SMRiQ9JIF9. Positions 247-447.
    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.
    GeneTreeiENSGT00690000101977.
    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

    MFNYERPKHF IQPQNPCGSR LQPPGPEVSG FPSQTKQSSI VIQPRQCTEQ    50
    RFSASSTVSS HITVSSSAYP APQQLAGPNP GQKVTATYNQ SPASFLSSIL 100
    PSQPDYCNSK IPSTVDSNYQ QSSVNQPVNA MSSQAANARP TPKTPDHEIQ 150
    GSKEALIQDL ERKLKCKDTL LHNGNQRLTY EEKMARRLLG PQNAAAVFQA 200
    QNSDVQDSPQ HNPEQARLHV PTSQVRSRSS SRAEANDQDA IQEKFYPPRF 250
    IQVPENMSIE EGRFCRMDFK VSGLPAPDVS WYLNGRPVQS DELHKMIVSE 300
    KGFHSLIFEV VRASDAGPYA CVARNRAGEA TFTVQLDVLA KEHKRAPMFI 350
    FKPQSKKVFE GETVKLECQI SAIPPPKLFW KRNNEMVQFN TDRISLYHDN 400
    AGRVTLLIKD VNKKDAGWYT VSAVNEAGVT TCNTRLDVTA RPIQTLPAPK 450
    QLRVRPTFSK YLALNGRGLD VKQAFNPEGE FQRLAAQSGL YESEEL 496
    Length:496
    Mass (Da):55,316
    Last modified:October 1, 2000 - v1
    Checksum:iBC4E2C0537F091D3
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF230979 mRNA. Translation: AAF76465.1.
    BC016214 mRNA. Translation: AAH16214.1.
    CCDSiCCDS29228.1.
    RefSeqiNP_001028793.1. NM_001033621.3.
    XP_006526196.1. XM_006526133.1.
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF230979 mRNA. Translation: AAF76465.1 .
    BC016214 mRNA. Translation: AAH16214.1 .
    CCDSi CCDS29228.1.
    RefSeqi NP_001028793.1. NM_001033621.3.
    XP_006526196.1. XM_006526133.1.
    UniGenei Mm.143804.

    3D structure databases

    ProteinModelPortali Q9JIF9.
    SMRi Q9JIF9. Positions 247-447.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q9JIF9.

    Proteomic databases

    MaxQBi Q9JIF9.
    PRIDEi Q9JIF9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000025349 ; ENSMUSP00000025349 ; ENSMUSG00000024471 .
    ENSMUST00000115498 ; ENSMUSP00000111160 ; ENSMUSG00000024471 .
    GeneIDi 58916.
    KEGGi mmu:58916.
    UCSCi uc008euw.1. mouse.

    Organism-specific databases

    CTDi 9499.
    MGIi MGI:1889800. Myot.

    Phylogenomic databases

    eggNOGi NOG147321.
    GeneTreei ENSGT00690000101977.
    HOGENOMi HOG000028074.
    HOVERGENi HBG066530.
    InParanoidi Q9JIF9.
    OMAi DSVKLEC.
    OrthoDBi EOG77WWBP.
    PhylomeDBi Q9JIF9.

    Miscellaneous databases

    NextBioi 314480.
    PROi Q9JIF9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9JIF9.
    Bgeei Q9JIF9.
    CleanExi MM_MYOT.
    Genevestigatori Q9JIF9.

    Family and domain databases

    Gene3Di 2.60.40.10. 3 hits.
    InterProi IPR007110. Ig-like_dom.
    IPR013783. Ig-like_fold.
    IPR013098. Ig_I-set.
    IPR003599. Ig_sub.
    IPR003598. Ig_sub2.
    [Graphical view ]
    Pfami PF07679. I-set. 2 hits.
    [Graphical view ]
    SMARTi SM00409. IG. 1 hit.
    SM00408. IGc2. 1 hit.
    [Graphical view ]
    PROSITEi PS50835. IG_LIKE. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 106 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