Stac3 SH3 and cysteine rich domain 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stac3provided by MGI
Official Full Name: SH3 and cysteine rich domain 3provided by MGI
Primary source: MGI:MGI:3606571
See related: Ensembl:ENSMUSG00000040287 AllianceGenome:MGI:3606571
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 9830125E18
Summary: Predicted to enable identical protein binding activity. Involved in positive regulation of protein localization to plasma membrane and positive regulation of voltage-gated calcium channel activity. Acts upstream of or within skeletal muscle fiber development. Located in cytosol. Is extrinsic component of cytoplasmic side of plasma membrane. Part of voltage-gated calcium channel complex. Is expressed in limb musculature; somite; and tongue. Human ortholog(s) of this gene implicated in Native American myopathy. Orthologous to human STAC3 (SH3 and cysteine rich domain 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in mammary gland adult (RPKM 5.1), limb E14.5 (RPKM 4.7) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 74.5 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (127337505..127344692)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (127501617..127508823)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing.
Title: Testicular STAC3 regulates Leydig cell steroidogenesis through potentiating mitochondrial membrane potential and StAR processing.
RyR1 Ca2+ release by CaV1.1 depends on Stac3 being bound to critical domain residues in the II-III loop.
Title: Stac proteins associate with the critical domain for excitation-contraction coupling in the II-III loop of Ca(V)1.1.
we provide evidence that endogenous STAC3 incorporates into triads in the absence of the DHPR in myotubes and muscle fibers of dysgenic mice. This finding demonstrates that STAC3 interacts with additional triad proteins and is consistent with its proposed role in directly or indirectly linking the DHPR with the RyR1
Title: STAC3 incorporation into skeletal muscle triads occurs independent of the dihydropyridine receptor.
Thus, the C1 domain of STAC3 is responsible for its stable incorporation into the voltage-sensor (CaV1.1) of excitation-contraction-coupling complex, whereas the SH3 domain containing the Native American myopathy mutation site may be involved in low-affinity functional interactions in excitation-contraction-coupling.
Title: STAC3 stably interacts through its C1 domain with Ca(V)1.1 in skeletal muscle triads.
These data together confirm a critical role of STAC3 in excitation-contraction coupling but also suggest that STAC3 may have additional functions in skeletal muscle, at least in the hindlimb muscle.
Title: Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice.
Stac3 is directly involved in conformational coupling between CaV1.1 and RyR1.
Title: Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation.
STAC3 is important to myofiber hypertrophy, myofiber-type composition, contraction, and excitation-induced calcium release from the sarcoplasmic reticulum in the postnatal skeletal muscle.
Title: The SH3 and cysteine-rich domain 3 (Stac3) gene is important to growth, fiber composition, and calcium release from the sarcoplasmic reticulum in postnatal skeletal muscle.
Stac3 may play a role in preventing precocious myoblast differentiation during skeletal muscle development
Title: Stac3 inhibits myoblast differentiation into myotubes.
Stac3 gene plays a critical role in skeletal muscle development and function in mice.
Title: Stac3 is a novel regulator of skeletal muscle development in mice.
STAC3 mediates voltage-induced Ca2+ release and contractility in skeletal muscles.
Title: Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in neuromuscular synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of voltage-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of voltage-gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SH3 and cysteine-rich domain-containing protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001359751.1 → NP_001346680.1 SH3 and cysteine-rich domain-containing protein 3

Status: VALIDATED

Source sequence(s)

AC167719, BC067208

Consensus CDS

CCDS24242.1

UniProtKB/Swiss-Prot

Q8BZ71

Related

ENSMUSP00000125124.2, ENSMUST00000160019.8

Conserved Domains (4) summary

cd11834
Location:306 → 356

SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3

cd11986
Location:247 → 299

SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)

pfam00130
Location:89 → 134

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

pfam16664
Location:146 → 187

STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
NM_177707.4 → NP_808375.1 SH3 and cysteine-rich domain-containing protein 3

See identical proteins and their annotated locations for NP_808375.1

Status: VALIDATED

Source sequence(s)

AK036516, BC067208

Consensus CDS

CCDS24242.1

UniProtKB/Swiss-Prot

Q8BZ71

Related

ENSMUSP00000048148.3, ENSMUST00000035839.3

Conserved Domains (4) summary

cd11834
Location:306 → 356

SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3

cd11986
Location:247 → 299

SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)

pfam00130
Location:89 → 134

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

pfam16664
Location:146 → 187

STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

127337505..127344692

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513640.3 → XP_006513703.1 SH3 and cysteine-rich domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006513703.1

UniProtKB/Swiss-Prot

Q8BZ71

Conserved Domains (4) summary

cd11834
Location:306 → 356

SH3_Stac_2; Second C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing proteins 1 and 3

cd11986
Location:247 → 299

SH3_Stac3_1; First C-terminal Src homology 3 domain of SH3 and cysteine-rich domain-containing protein 3 (Stac3)

pfam00130
Location:89 → 134

C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)

pfam16664
Location:146 → 187

STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2