STAC3
SH3 and cysteine-rich domain-containing protein 3
Also known as: MGC2793, STAC3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96MF2
- Gene
- STAC3
- Ensembl
- ENSG00000185482
- Chromosome
- 12
- Canonical length
- 364 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
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 cause of Native American myopathy. [provided by RefSeq, Nov 2013]
Canonical amino-acid sequenceUniProt
364 residues, UniProt reviewed canonical sequence.
>Q96MF2|STAC3
1 MTEKEVLESP KPSFPAETRQ SGLQRLKQLL RKGSTGTKEM ELPPEPQANG EAVGAGGGPI
61 YYIYEEEEEE EEEEEEPPPE PPKLVNDKPH KFKDHFFKKP KFCDVCARMI VLNNKFGLRC
121 KNCKTNIHEH CQSYVEMQRC FGKIPPGFHR AYSSPLYSNQ QYACVKDLSA ANRNDPVFET
181 LRTGVIMANK ERKKGQADKK NPVAAMMEEE PESARPEEGK PQDGNPEGDK KAEKKTPDDK
241 HKQPGFQQSH YFVALYRFKA LEKDDLDFPP GEKITVIDDS NEEWWRGKIG EKVGFFPPNF
301 IIRVRAGERV HRVTRSFVGN REIGQITLKK DQIVVQKGDE AGGYVKVYTG RKVGLFPTDF
361 LEEILocalizationUniProt · AlphaFold · HPA
Whether an antibody against STAC3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 2,169 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 2,169 nTPM
- tongue: 1,091 nTPM
- salivary gland: 43 nTPM
- esophagus: 29 nTPM
- prostate: 22 nTPM
- bone marrow: 17 nTPM
Single-cell type
- myonuclei: 359 nCPM
- thymic myoid cells: 303 nCPM
- myosatellite cells: 56 nCPM
- hofbauer cells: 46 nCPM
- kupffer cells: 45 nCPM
- megakaryocytes: 31 nCPM
Immune cell
- intermediate monocyte: 5.8 nTPM
- classical monocyte: 4.4 nTPM
- myeloid DC: 3.6 nTPM
- non-classical monocyte: 2.9 nTPM
- total PBMC: 1.4 nTPM
- plasmacytoid DC: 1 nTPM
Brain region
- cerebellum: 6.6 nTPM
- cerebral cortex: 4.1 nTPM
- white matter: 3.3 nTPM
- medulla oblongata: 2.8 nTPM
- pons: 2.8 nTPM
- amygdala: 2.7 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about STAC3.
Disease | AllUniProt
Conditions STAC3 is implicated in, by any mechanism.
- Congenital myopathy 13 (CMYO13) MIM:255995
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 304 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Bailey-Bloch congenital myopathy
- STAC3-related disorder
- Inborn genetic diseases
- Gastric cancer
- Congenital myopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.75
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.91
- DepMap mean gene effect
- -0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- neuromuscular synaptic transmission
- positive regulation of protein localization to plasma membrane
- positive regulation of voltage-gated calcium channel activity
- skeletal muscle contraction
- skeletal muscle fiber development
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
- SH3-like domain superfamily
- STAC1/2/3
- C1-like domain superfamily
- SH3 domain
- Phorbol esters/diacylglycerol binding domain (C1 domain)
- Variant SH3 domain
- Unstructured on SH3 and cysteine-rich domain-containing protein 2
- Stac3, first SH3 domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of STAC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads STAC3 as an antibody target. Whether an autoantibody or antibody against STAC3 could matter depends on whether native STAC3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
STAC3 is annotated at the cell surface, where native STAC3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label STAC3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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