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; OMA:STAC3 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.3 Start 57,243,453 bp[1] End 57,251,188 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 D3 Start 127,337,555 bp[2] End 127,344,692 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh Skeletal muscle tissue of rectus abdominis vastus lateralis muscle Skeletal muscle tissue of biceps brachii tibialis anterior muscle body of tongue deltoid muscle monocyte granulocyte Top expressed in muscle of thigh triceps brachii muscle vastus lateralis muscle sternocleidomastoid muscle temporal muscle knee joint medial head of gastrocnemius muscle tibialis anterior muscle digastric muscle soleus muscle More reference expression data BioGPS n/a
Gene ontology Molecular function 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 plasma membrane membrane sarcolemma T-tubule Biological process skeletal muscle contraction neuromuscular synaptic transmission 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 Species Human Mouse Entrez 246329 237611 Ensembl ENSG00000185482 ENSMUSG00000040287 UniProt Q96MF2 Q8BZ71 RefSeq (mRNA) NM_001286256 NM_001286257 NM_145064 NM_177707 NM_001359751 RefSeq (protein) NP_001273185 NP_001273186 NP_659501 NP_659501.1 NP_808375 NP_001346680 Location (UCSC) Chr 12: 57.24 – 57.25 Mb Chr 10: 127.34 – 127.34 Mb PubMed search [3] [4]
Wikidata
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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

1. GRCh38: Ensembl release 89: ENSG00000185482 – Ensembl, May 2017
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. Archived from the original on January 24, 2017 – via National Institutes of Health.
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. Bibcode:2013NatCo...4.1952H. doi:10.1038/ncomms2952. PMC 4056023. PMID 23736855.