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Protein

Myozenin-3

Gene

MYOZ3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164591-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:18565. MYOZ3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi91977.
OpenTargetsiENSG00000164591.
PharmGKBiPA38577.

Polymorphism and mutation databases

BioMutaiMYOZ3.
DMDMi296439236.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001111021 – 251Myozenin-3Add BLAST251

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei31PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TDC0.
PaxDbiQ8TDC0.
PeptideAtlasiQ8TDC0.
PRIDEiQ8TDC0.

PTM databases

iPTMnetiQ8TDC0.
PhosphoSitePlusiQ8TDC0.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000164591.
CleanExiHS_MYOZ3.
ExpressionAtlasiQ8TDC0. baseline and differential.
GenevisibleiQ8TDC0. HS.

Organism-specific databases

HPAiHPA039166.

Interactioni

Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ8TDC0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni50 – 67Binding to ACTN2, PPP3CA and TCAP1 PublicationAdd BLAST18
Regioni67 – 110Binding to FLNC1 PublicationAdd BLAST44
Regioni186 – 207Binding to ACTN21 PublicationAdd BLAST22

Sequence similaritiesi

Belongs to the myozenin family.Curated

Phylogenomic databases

eggNOGiENOG410IWTE. Eukaryota.
ENOG410YKQB. LUCA.
GeneTreeiENSGT00530000063184.
HOGENOMiHOG000030910.
HOVERGENiHBG071289.
InParanoidiQ8TDC0.
OMAiFVSYRDY.
OrthoDBiEOG091G0GA9.
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. AlignAdd to basket

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

        10         20         30         40         50
MIPKEQKGPV MAAMGDLTEP VPTLDLGKKL SVPQDLMMEE LSLRNNRGSL
60 70 80 90 100
LFQKRQRRVQ KFTFELAASQ RAMLAGSARR KVTGTAESGT VANANGPEGP
110 120 130 140 150
NYRSELHIFP ASPGASLGGP EGAHPAAAPA GCVPSPSALA PGYAEPLKGV
160 170 180 190 200
PPEKFNHTAI SKGYRCPWQE FVSYRDYQSD GRSHTPSPND YRNFNKTPVP
210 220 230 240 250
FGGPLVGGTF PRPGTPFIPE PLSGLELLRL RPSFNRVAQG WVRNLPESEE

L
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_067718161S → P.5 PublicationsCorresponds to variant rs194134dbSNPEnsembl.1
Natural variantiVAR_056203209T → N.Corresponds to variant rs7737542dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0518761 – 20MIPKE…DLTEP → MLREVGPGVYGGWGGESPLW PFLA in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_05187773 – 83MLAGSARRKVT → VSKPPLCSWGK in isoform 3. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_05187884 – 251Missing in isoform 3. 1 PublicationAdd BLAST168
Alternative sequenceiVSP_051879186 – 231Missing in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
ENST00000615557; ENSP00000478375; ENSG00000164591. [Q8TDC0-3]
GeneIDi91977.
KEGGihsa:91977.
UCSCiuc003lsr.4. human. [Q8TDC0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ8TDC0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ8TDC0.
PhosphoSitePlusiQ8TDC0.

Polymorphism and mutation databases

BioMutaiMYOZ3.
DMDMi296439236.

Proteomic databases

EPDiQ8TDC0.
PaxDbiQ8TDC0.
PeptideAtlasiQ8TDC0.
PRIDEiQ8TDC0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297130; ENSP00000297130; ENSG00000164591. [Q8TDC0-1]
ENST00000517768; ENSP00000428815; ENSG00000164591. [Q8TDC0-1]
ENST00000615557; ENSP00000478375; ENSG00000164591. [Q8TDC0-3]
GeneIDi91977.
KEGGihsa:91977.
UCSCiuc003lsr.4. human. [Q8TDC0-1]

Organism-specific databases

CTDi91977.
DisGeNETi91977.
GeneCardsiMYOZ3.
H-InvDBHIX0200734.
HGNCiHGNC:18565. MYOZ3.
HPAiHPA039166.
MIMi610735. gene.
neXtProtiNX_Q8TDC0.
OpenTargetsiENSG00000164591.
PharmGKBiPA38577.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWTE. Eukaryota.
ENOG410YKQB. LUCA.
GeneTreeiENSGT00530000063184.
HOGENOMiHOG000030910.
HOVERGENiHBG071289.
InParanoidiQ8TDC0.
OMAiFVSYRDY.
OrthoDBiEOG091G0GA9.
PhylomeDBiQ8TDC0.
TreeFamiTF331748.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164591-MONOMER.

Miscellaneous databases

GenomeRNAii91977.
PROiQ8TDC0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164591.
CleanExiHS_MYOZ3.
ExpressionAtlasiQ8TDC0. baseline and differential.
GenevisibleiQ8TDC0. HS.

Family and domain databases

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

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: November 2, 2016
This is version 109 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

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 one 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.