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Q8TDC0

- MYOZ3_HUMAN

UniProt

Q8TDC0 - MYOZ3_HUMAN

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Protein

Myozenin-3

Gene
MYOZ3, FRP3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Myozenin-3
Alternative name(s):
Calsarcin-3
FATZ-related protein 3
Gene namesi
Name:MYOZ3
Synonyms:FRP3
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
Complete GO annotation...

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.

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.

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

« Hide 'large scale' publications
  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 muscle.
  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: Lung.

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: July 9, 2014
This is version 94 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

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