STAC3 SH3 and cysteine rich domain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STAC3provided by HGNC
Official Full Name: SH3 and cysteine rich domain 3provided by HGNC
Primary source: HGNC:HGNC:28423
See related: Ensembl:ENSG00000185482 MIM:615521; AllianceGenome:HGNC:28423
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NAM; MYPBB; CMYO13; CMYP13
Summary: 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]
Expression: Biased expression in prostate (RPKM 23.6), esophagus (RPKM 13.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57243458..57251187, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57211695..57219414, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (57637241..57644970, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

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.
STAC3 related congenital myopathy: A case series of seven Comorian patients.
Title: STAC3 related congenital myopathy: A case series of seven Comorian patients.
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling.
Title: Multiple Sequence Variants in STAC3 Affect Interactions with Ca(V)1.1 and Excitation-Contraction Coupling.
Bayesian statistics predicted CACNA1S variant p.Thr1009Lys and RYR1 variants p.Ser1728Phe and p.Leu4824Pro are likely pathogenic, and novel STAC3 variant p.Met187Thr has uncertain significance. Nearly a third of MHS subjects had only benign variants. Bayesian method provides new approach to predict MH pathogenicity of genetic variants
Title: Bayesian modeling to predict malignant hyperthermia susceptibility and pathogenicity of RYR1, CACNA1S and STAC3 variants.
Unexpected discoveries in the case reported here in a Kuwaiti family, via Next Generation Sequencing, identifying the STAC3 mutation as the underlying cause of a Native American Myopathy phenotype.
Title: [When all roads lead to Africa…].
recent identification of the adaptor protein STAC3 as fourth essential component of skeletal muscle EC coupling prompted vigorous research to reveal its role in this signaling process.
Title: STAC proteins: The missing link in skeletal muscle EC coupling and new regulators of calcium channel function.
Study reports patients with congenital myopathy carrying either a homozygous, heterozygous p.(Trp284Ser) STAC3 variant or a novel splice site change (c.997-1G > T). The patients have distinctive dysmorphic features in addition to a malignant hyperthermia-like in some. These variants showed a defective excitation-contraction which is not a result of CaV 1.1 sarcolemma mislocation or impaired interaction with CaV 1.1.
Title: STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
STAC3 mutation is associated with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Title: Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
A mutation in human STAC3 is the genetic basis of the debilitating Native American myopathy.
Title: Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Bailey-Bloch congenital myopathy MedGen: C1850625 OMIM: 255995 GeneReviews: STAC3 Disorder	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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
involved_in neuromuscular synaptic transmission	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
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle fiber development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in T-tubule	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in synapse	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.

Genomic

NG_033835.1 RefSeqGene

Range

5007..12736

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001286256.2 → NP_001273185.1 SH3 and cysteine-rich domain-containing protein 3 isoform b

See identical proteins and their annotated locations for NP_001273185.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus than isoform a.

Source sequence(s)

BC008069, DA896836

Consensus CDS

CCDS66406.1

UniProtKB/Swiss-Prot

Q96MF2

Related

ENSP00000452068.1, ENST00000554578.5

Conserved Domains (4) summary

cd11834
Location:271 → 321

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

cd11986
Location:212 → 264

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

pfam00130
Location:51 → 96

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

pfam16664
Location:108 → 200

STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
NM_001286257.2 → NP_001273186.1 SH3 and cysteine-rich domain-containing protein 3 isoform c

See identical proteins and their annotated locations for NP_001273186.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a.

Source sequence(s)

AK300688, BC008069, DA896836

Consensus CDS

CCDS66405.1

UniProtKB/Swiss-Prot

Q96MF2

Related

ENSP00000441515.2, ENST00000546246.2

Conserved Domains (2) summary

cd11834
Location:124 → 174

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

cl17036
Location:65 → 117

SH3; Src Homology 3 domain superfamily
NM_145064.3 → NP_659501.1 SH3 and cysteine-rich domain-containing protein 3 isoform a

See identical proteins and their annotated locations for NP_659501.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AK057013, BU738507, DA896836

Consensus CDS

CCDS8936.1

UniProtKB/Swiss-Prot

B4DUK9, Q96HU5, Q96MF2

Related

ENSP00000329200.2, ENST00000332782.7

Conserved Domains (4) summary

cd11834
Location:310 → 360

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

cd11986
Location:251 → 303

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

pfam00130
Location:90 → 135

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

pfam16664
Location:147 → 239

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

RNA

NR_104422.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks four alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK057013, AK311513, BC008069, DA896836

Related

ENST00000557176.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

57243458..57251187 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538126.3 → XP_011536428.1 SH3 and cysteine-rich domain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_011536428.1

UniProtKB/Swiss-Prot

B4DUK9, Q96HU5, Q96MF2

Conserved Domains (4) summary

cd11834
Location:310 → 360

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

cd11986
Location:251 → 303

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

pfam00130
Location:90 → 135

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

pfam16664
Location:147 → 239

STAC2_u1; Unstructured on SH3 and cysteine-rich domain-containing protein 2
XM_047428657.1 → XP_047284613.1 SH3 and cysteine-rich domain-containing protein 3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

57211695..57219414 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054371649.1 → XP_054227624.1 SH3 and cysteine-rich domain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

B4DUK9, Q96HU5, Q96MF2
XM_054371650.1 → XP_054227625.1 SH3 and cysteine-rich domain-containing protein 3 isoform X2