STAC3

STAC3
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2DB6
Identifiers
Aliases	STAC3, NAM, SH3 and cysteine rich domain 3, MYPBB
External IDs	OMIM: 615521 MGI: 3606571 HomoloGene: 17039 GeneCards: STAC3
Gene location (Human)
Chr.	Chromosome 12 (human)[1]
End	57,251,188 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	127,508,823 bp[2]
Gene ontology
Molecular function	• GO:0001948 protein binding; • metal ion binding; • identical protein binding;
Cellular component	• nucleoplasm; • cytosol; • voltage-gated calcium channel complex; • extrinsic component of cytoplasmic side of plasma membrane; • cytoplasm; • cell membrane; • membrane; • sarcolemma; • T-tubule;
Biological process	• skeletal muscle contraction; • neuromuscular synaptic transmission; • GO:0007243 intracellular signal transduction; • skeletal muscle fiber development; • positive regulation of voltage-gated calcium channel activity; • positive regulation of protein localization to plasma membrane;
	Sources:Amigo / QuickGO
Orthologs
	246329
	237611
	ENSG00000185482
	ENSMUSG00000040287
	Q96MF2
	Q8BZ71
	NM_001286256; NM_001286257; NM_145064
	NM_177707; NM_001359751
	NP_001273185; NP_001273186; NP_659501; NP_659501.1
	NP_808375; NP_001346680
	Wikidata
View/Edit Human	View/Edit Mouse

SH3 and cysteine-rich domain-containing protein 3 is a protein that in humans is encoded by the STAC3 gene.

STAC3 has been shown to be associated with the a special form of myopathy known as Native American myopathy (NAM), a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.[5] It was first identified through a genetic screen in zebrafish and was shown to be a component of the excitation contraction coupling machinery, followed by it being mapped to the region of the human genome which had been shown to be associated with the defects observed in NAM.[6]

References

GRCh38: Ensembl release 89: ENSG00000185482 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000040287 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"STAC3 Disorder". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program – via National Institutes of Health.
Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. (2013). "Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy". Nat Commun. 4: 1952. doi:10.1038/ncomms2952. PMC 4056023. PMID 23736855.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000185482 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040287 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] "STAC3 Disorder". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program – via National Institutes of Health.

[pmid23736855-6] Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, et al. (2013). "Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy". Nat Commun. 4: 1952. doi:10.1038/ncomms2952. PMC 4056023. PMID 23736855.