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Q8TDC0 (MYOZ3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myozenin-3
Alternative name(s):
Calsarcin-3
FATZ-related protein 3
Gene names
Name:MYOZ3
Synonyms:FRP3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length251 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1

Subunit structure

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

Subcellular location

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

Tissue specificity

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

Sequence similarities

Belongs to the myozenin family.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentZ disc

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 Ref.1 (identifier: Q8TDC0-1)

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.
Isoform 2 Ref.2 (identifier: Q8TDC0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     186-231: Missing.
Isoform 3 Ref.2 (identifier: Q8TDC0-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 251251Myozenin-3
PRO_0000111102

Regions

Region50 – 6718Binding to ACTN2, PPP3CA and TCAP Ref.1
Region67 – 11044Binding to FLNC Ref.1
Region186 – 20722Binding to ACTN2 Ref.1

Natural variations

Alternative sequence1 – 2020MIPKE…DLTEP → MLREVGPGVYGGWGGESPLW PFLA in isoform 3. Ref.2
VSP_051876
Alternative sequence73 – 8311MLAGSARRKVT → VSKPPLCSWGK in isoform 3. Ref.2
VSP_051877
Alternative sequence84 – 251168Missing in isoform 3. Ref.2
VSP_051878
Alternative sequence186 – 23146Missing in isoform 2. Ref.2
VSP_051879
Natural variant1611S → P. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs194134 [ dbSNP | Ensembl ].
VAR_067718
Natural variant2091T → N.
Corresponds to variant rs7737542 [ dbSNP | Ensembl ].
VAR_056203

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: AF1C09E49CD31D94

FASTA25127,157
        10         20         30         40         50         60 
MIPKEQKGPV MAAMGDLTEP VPTLDLGKKL SVPQDLMMEE LSLRNNRGSL LFQKRQRRVQ 

        70         80         90        100        110        120 
KFTFELAASQ RAMLAGSARR KVTGTAESGT VANANGPEGP NYRSELHIFP ASPGASLGGP 

       130        140        150        160        170        180 
EGAHPAAAPA GCVPSPSALA PGYAEPLKGV PPEKFNHTAI SKGYRCPWQE FVSYRDYQSD 

       190        200        210        220        230        240 
GRSHTPSPND YRNFNKTPVP FGGPLVGGTF PRPGTPFIPE PLSGLELLRL RPSFNRVAQG 

       250 
WVRNLPESEE L 

« Hide

Isoform 2 [UniParc].

Checksum: 90AAA3139F44B7A9
Show »

FASTA20522,155
Isoform 3 [UniParc].

Checksum: 62F30F67235A78DC
Show »

FASTA879,787

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001116325.1. NM_001122853.2.
NP_588612.2. NM_133371.4.
UniGeneHs.91626.

3D structure databases

ProteinModelPortalQ8TDC0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124899. 3 interactions.
IntActQ8TDC0. 2 interactions.
MINTMINT-8247550.
STRING9606.ENSP00000297130.

PTM databases

PhosphoSiteQ8TDC0.

Polymorphism databases

DMDM296439236.

Proteomic databases

PaxDbQ8TDC0.
PRIDEQ8TDC0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000297130; ENSP00000297130; ENSG00000164591. [Q8TDC0-1]
ENST00000517768; ENSP00000428815; ENSG00000164591. [Q8TDC0-1]
GeneID91977.
KEGGhsa:91977.
UCSCuc003lsr.3. human. [Q8TDC0-1]

Organism-specific databases

CTD91977.
GeneCardsGC05P150020.
H-InvDBHIX0200734.
HGNCHGNC:18565. MYOZ3.
HPAHPA039166.
MIM610735. gene.
neXtProtNX_Q8TDC0.
PharmGKBPA38577.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41196.
HOGENOMHOG000030910.
HOVERGENHBG071289.
InParanoidQ8TDC0.
OMAVMAAMGD.
OrthoDBEOG7W41CH.
PhylomeDBQ8TDC0.
TreeFamTF331748.

Gene expression databases

ArrayExpressQ8TDC0.
BgeeQ8TDC0.
CleanExHS_MYOZ3.
GenevestigatorQ8TDC0.

Family and domain databases

InterProIPR008438. MYOZ.
[Graphical view]
PANTHERPTHR15941. PTHR15941. 1 hit.
PfamPF05556. Calsarcin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi91977.
NextBio77546.
PROQ8TDC0.
SOURCESearch...

Entry information

Entry nameMYOZ3_HUMAN
AccessionPrimary (citable) accession number: Q8TDC0
Secondary accession number(s): B2R9Q4 expand/collapse secondary AC list , D3DQG9, Q8IVM1, Q8IVN1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 91 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM