stac3 SH3 and cysteine rich domain 3 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: stac3provided by ZNC
Official Full Name: SH3 and cysteine rich domain 3provided by ZNC
Primary source: ZFIN:ZDB-GENE-040801-248
See related: Ensembl:ENSDARG00000098883 AllianceGenome:ZFIN:ZDB-GENE-040801-248
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:91949
Summary: Predicted to enable metal ion binding activity. Acts upstream of or within several processes, including T-tubule organization; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and skeletal muscle contraction. Predicted to be located in cytosol. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in adaxial cell; musculature system; and somite. Used to study Native American myopathy. 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, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (307903..319513)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (308270..318767)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

transport of dihydropyridine receptor in the sarcoplasmic reticulum membrane is differentially affected in null mutants of Stac3 or DHPRbeta
Title: Transport of the alpha subunit of the voltage gated L-type calcium channel through the sarcoplasmic reticulum occurs prior to localization to triads and requires the beta subunit but not Stac3 in skeletal muscles.
These findings define critical roles for Stac3 in excitation-contraction coupling and human disease.
Title: Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.
Analysis of stac3 in zebrafish shows that the Native American myopathy mutation decreases excitation-contraction coupling.
Title: Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within T-tubule organization	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of voltage-gated calcium channel activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle tissue development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in extrinsic component of cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
part_of voltage-gated calcium channel complex	ISS Inferred from Sequence or Structural Similarity more info

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_001003505.2 → NP_001003505.1 SH3 and cysteine-rich domain-containing protein 3

See identical proteins and their annotated locations for NP_001003505.1

Status: VALIDATED

Source sequence(s)

CR753874

UniProtKB/Swiss-Prot

Q6DBR6

Related

ENSDARP00000133228.1, ENSDART00000163474.2

Conserved Domains (3) summary

cd00029
Location:63 → 108

C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...

pfam16664
Location:120 → 197

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

cl17036
Location:221 → 273

SH3; Src Homology 3 domain superfamily