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Q8TDC0

- MYOZ3_HUMAN

UniProt

Q8TDC0 - MYOZ3_HUMAN

Protein

Myozenin-3

Gene

MYOZ3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myozenin-3
    Alternative name(s):
    Calsarcin-3
    FATZ-related protein 3
    Gene namesi
    Name:MYOZ3Imported
    Synonyms:FRP3Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:18565. MYOZ3.

    Subcellular locationi

    CytoplasmmyofibrilsarcomereZ line By similarity
    Note: Localized at the Z-line of skeletal muscle.By similarity

    GO - Cellular componenti

    1. Z disc Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38577.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 251251Myozenin-3PRO_0000111102Add
    BLAST

    Proteomic databases

    PaxDbiQ8TDC0.
    PRIDEiQ8TDC0.

    PTM databases

    PhosphoSiteiQ8TDC0.

    Expressioni

    Tissue specificityi

    Expressed specifically in skeletal muscle. Not detected in heart.1 Publication

    Gene expression databases

    ArrayExpressiQ8TDC0.
    BgeeiQ8TDC0.
    CleanExiHS_MYOZ3.
    GenevestigatoriQ8TDC0.

    Organism-specific databases

    HPAiHPA039166.

    Interactioni

    Subunit structurei

    Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP.1 Publication

    Protein-protein interaction databases

    BioGridi124899. 3 interactions.
    IntActiQ8TDC0. 2 interactions.
    MINTiMINT-8247550.
    STRINGi9606.ENSP00000297130.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDC0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni50 – 6718Binding to ACTN2, PPP3CA and TCAP1 PublicationAdd
    BLAST
    Regioni67 – 11044Binding to FLNC1 PublicationAdd
    BLAST
    Regioni186 – 20722Binding to ACTN21 PublicationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the myozenin family.Curated

    Phylogenomic databases

    eggNOGiNOG41196.
    HOGENOMiHOG000030910.
    HOVERGENiHBG071289.
    InParanoidiQ8TDC0.
    OMAiVMAAMGD.
    OrthoDBiEOG7W41CH.
    PhylomeDBiQ8TDC0.
    TreeFamiTF331748.

    Family and domain databases

    InterProiIPR008438. MYOZ.
    [Graphical view]
    PANTHERiPTHR15941. PTHR15941. 1 hit.
    PfamiPF05556. Calsarcin. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 11 Publication (identifier: Q8TDC0-1) [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

    MIPKEQKGPV MAAMGDLTEP VPTLDLGKKL SVPQDLMMEE LSLRNNRGSL    50
    LFQKRQRRVQ KFTFELAASQ RAMLAGSARR KVTGTAESGT VANANGPEGP 100
    NYRSELHIFP ASPGASLGGP EGAHPAAAPA GCVPSPSALA PGYAEPLKGV 150
    PPEKFNHTAI SKGYRCPWQE FVSYRDYQSD GRSHTPSPND YRNFNKTPVP 200
    FGGPLVGGTF PRPGTPFIPE PLSGLELLRL RPSFNRVAQG WVRNLPESEE 250
    L 251
    Length:251
    Mass (Da):27,157
    Last modified:May 18, 2010 - v2
    Checksum:iAF1C09E49CD31D94
    GO
    Isoform 21 Publication (identifier: Q8TDC0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         186-231: Missing.

    Show »
    Length:205
    Mass (Da):22,155
    Checksum:i90AAA3139F44B7A9
    GO
    Isoform 31 Publication (identifier: Q8TDC0-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-20: MIPKEQKGPVMAAMGDLTEP → MLREVGPGVYGGWGGESPLWPFLA
         73-83: MLAGSARRKVT → VSKPPLCSWGK
         84-251: Missing.

    Show »
    Length:87
    Mass (Da):9,787
    Checksum:i62F30F67235A78DC
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti161 – 1611S → P.5 Publications
    Corresponds to variant rs194134 [ dbSNP | Ensembl ].
    VAR_067718
    Natural varianti209 – 2091T → N.
    Corresponds to variant rs7737542 [ dbSNP | Ensembl ].
    VAR_056203

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2020MIPKE…DLTEP → MLREVGPGVYGGWGGESPLW PFLA in isoform 3. 1 PublicationVSP_051876Add
    BLAST
    Alternative sequencei73 – 8311MLAGSARRKVT → VSKPPLCSWGK in isoform 3. 1 PublicationVSP_051877Add
    BLAST
    Alternative sequencei84 – 251168Missing in isoform 3. 1 PublicationVSP_051878Add
    BLAST
    Alternative sequencei186 – 23146Missing in isoform 2. 1 PublicationVSP_051879Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF480443 mRNA. Translation: AAL79336.1.
    AJ277961 mRNA. Translation: CAC81912.1.
    AJ300586 mRNA. Translation: CAC83076.1.
    AJ300587 mRNA. Translation: CAC83077.1.
    AK313873 mRNA. Translation: BAG36601.1.
    AC008453 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61713.1.
    CH471062 Genomic DNA. Translation: EAW61714.1.
    BC069380 mRNA. Translation: AAH69380.1.
    BC069553 mRNA. Translation: AAH69553.1.
    BC074870 mRNA. Translation: AAH74870.1.
    BC074871 mRNA. Translation: AAH74871.1.
    CCDSiCCDS4309.1. [Q8TDC0-1]
    RefSeqiNP_001116325.1. NM_001122853.2. [Q8TDC0-1]
    NP_588612.2. NM_133371.4. [Q8TDC0-1]
    UniGeneiHs.91626.

    Genome annotation databases

    EnsembliENST00000297130; ENSP00000297130; ENSG00000164591. [Q8TDC0-1]
    ENST00000517768; ENSP00000428815; ENSG00000164591. [Q8TDC0-1]
    GeneIDi91977.
    KEGGihsa:91977.
    UCSCiuc003lsr.3. human. [Q8TDC0-1]

    Polymorphism databases

    DMDMi296439236.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF480443 mRNA. Translation: AAL79336.1 .
    AJ277961 mRNA. Translation: CAC81912.1 .
    AJ300586 mRNA. Translation: CAC83076.1 .
    AJ300587 mRNA. Translation: CAC83077.1 .
    AK313873 mRNA. Translation: BAG36601.1 .
    AC008453 Genomic DNA. No translation available.
    CH471062 Genomic DNA. Translation: EAW61713.1 .
    CH471062 Genomic DNA. Translation: EAW61714.1 .
    BC069380 mRNA. Translation: AAH69380.1 .
    BC069553 mRNA. Translation: AAH69553.1 .
    BC074870 mRNA. Translation: AAH74870.1 .
    BC074871 mRNA. Translation: AAH74871.1 .
    CCDSi CCDS4309.1. [Q8TDC0-1 ]
    RefSeqi NP_001116325.1. NM_001122853.2. [Q8TDC0-1 ]
    NP_588612.2. NM_133371.4. [Q8TDC0-1 ]
    UniGenei Hs.91626.

    3D structure databases

    ProteinModelPortali Q8TDC0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124899. 3 interactions.
    IntActi Q8TDC0. 2 interactions.
    MINTi MINT-8247550.
    STRINGi 9606.ENSP00000297130.

    PTM databases

    PhosphoSitei Q8TDC0.

    Polymorphism databases

    DMDMi 296439236.

    Proteomic databases

    PaxDbi Q8TDC0.
    PRIDEi Q8TDC0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000297130 ; ENSP00000297130 ; ENSG00000164591 . [Q8TDC0-1 ]
    ENST00000517768 ; ENSP00000428815 ; ENSG00000164591 . [Q8TDC0-1 ]
    GeneIDi 91977.
    KEGGi hsa:91977.
    UCSCi uc003lsr.3. human. [Q8TDC0-1 ]

    Organism-specific databases

    CTDi 91977.
    GeneCardsi GC05P150020.
    H-InvDB HIX0200734.
    HGNCi HGNC:18565. MYOZ3.
    HPAi HPA039166.
    MIMi 610735. gene.
    neXtProti NX_Q8TDC0.
    PharmGKBi PA38577.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41196.
    HOGENOMi HOG000030910.
    HOVERGENi HBG071289.
    InParanoidi Q8TDC0.
    OMAi VMAAMGD.
    OrthoDBi EOG7W41CH.
    PhylomeDBi Q8TDC0.
    TreeFami TF331748.

    Miscellaneous databases

    GenomeRNAii 91977.
    NextBioi 77546.
    PROi Q8TDC0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TDC0.
    Bgeei Q8TDC0.
    CleanExi HS_MYOZ3.
    Genevestigatori Q8TDC0.

    Family and domain databases

    InterProi IPR008438. MYOZ.
    [Graphical view ]
    PANTHERi PTHR15941. PTHR15941. 1 hit.
    Pfami PF05556. Calsarcin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins."
      Frey N., Olson E.N.
      J. Biol. Chem. 277:13998-14004(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-161, INTERACTION WITH ACTN2; FLNC; LDB3; PPP3CA AND TCAP, TISSUE SPECIFICITY.
    2. "New muscular proteins."
      Scannapieco P., Greggio E., Bortoletto G., Ievolella C., Lanfranchi G.
      Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), VARIANT PRO-161.
      Tissue: Skeletal muscleImported.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-161.
      Tissue: Testis.
    4. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT PRO-161.
    6. "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] (ISOFORM 1), VARIANT PRO-161.
      Tissue: LungImported.

    Entry informationi

    Entry nameiMYOZ3_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDC0
    Secondary accession number(s): B2R9Q4
    , D3DQG9, Q8IVM1, Q8IVN1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 95 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3