• Gene id: 246329

Gene Summary

• Gene Symbol: STAC3   Gene   UCSC   Ensembl
• Aliases: MYPBB, NAM
• Gene name: SH3 and cysteine rich domain 3
• Alternate names: SH3 and cysteine-rich domain-containing protein 3,
• Gene location: 12q13.3 (57251187: 57243452)     Exons: 12     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a
• OMIM: 610770

Protein Summary

• Protein general information: Q96MF2  
  • Name: SH3 and cysteine rich domain containing protein 3
  • Length: 364  
  • Mass: 41507
• Sequence:

  MTEKEVLESPKPSFPAETRQSGLQRLKQLLRKGSTGTKEMELPPEPQANGEAVGAGGGPIYYIYEEEEEEEEEEE
  EPPPEPPKLVNDKPHKFKDHFFKKPKFCDVCARMIVLNNKFGLRCKNCKTNIHEHCQSYVEMQRCFGKIPPGFHR
  AYSSPLYSNQQYACVKDLSAANRNDPVFETLRTGVIMANKERKKGQADKKNPVAAMMEEEPESARPEEGKPQDGN
  PEGDKKAEKKTPDDKHKQPGFQQSHYFVALYRFKALEKDDLDFPPGEKITVIDDSNEEWWRGKIGEKVGFFPPNF
  IIRVRAGERVHRVTRSFVGNREIGQITLKKDQIVVQKGDEAGGYVKVYTGRKVGLFPTDFLEEI

• Structural information:
  • Protein Domains: (247..30-)
    (/note="SH3-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (307..36-)
    (/note="SH3-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR002219  IPR036028  IPR001452  IPR039688  IPR035736  
  • Prosite: PS50002 PS00479 PS50081
  • CDD: cd00029 cd11986
  • PDB: 2DB6 6B29
  • PDBsum: 2DB6 6B29
  • STRING: ENSP00000329200
• Other Databases: GeneCards:  STAC3  Malacards:  STAC3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901387	positive regulation of voltage-gated calcium channel activity	IBA	biological process
GO:0003009	skeletal muscle contraction	IBA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IBA	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	IBA	biological process
GO:1901387	positive regulation of voltage-gated calcium channel activity	ISS	biological process
GO:0007274	neuromuscular synaptic transmission	IMP	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0005891	voltage-gated calcium channel complex	ISS	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	ISS	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	ISS	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901387	positive regulation of voltage-gated calcium channel activity	IEA	biological process
GO:0048741	skeletal muscle fiber development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:1903078	positive regulation of protein localization to plasma membrane	IEA	biological process
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	IEA	cellular component
GO:0005891	voltage-gated calcium channel complex	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045202	synapse	IEA	cellular component

Diseases

Associated diseases	References
Native American myopathy	KEGG:H02084
Native American myopathy	KEGG:H02084
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq