UniProtKB - Q96MF2 (STAC3_HUMAN)
Protein
SH3 and cysteine-rich domain-containing protein 3
Gene
STAC3
Organism
Homo sapiens (Human)
Status
Functioni
Required for normal excitation-contraction coupling in skeletal muscle and for normal muscle contraction in response to membrane depolarization. Required for normal Ca2+ release from the sarcplasmic reticulum, which ultimately leads to muscle contraction. Probably functions via its effects on muscle calcium channels (PubMed:23736855, PubMed:29078335). Increases CACNA1S channel activity, in addition to its role in enhancing the expression of CACNA1S at the cell membrane. Has a redundant role in promoting the expression of the calcium channel CACNA1S at the cell membrane (By similarity). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:29078335).By similarity2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 89 – 140 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 52 |
GO - Molecular functioni
- identical protein binding Source: IntAct
- metal ion binding Source: UniProtKB-KW
GO - Biological processi
- intracellular signal transduction Source: InterPro
- neuromuscular synaptic transmission Source: UniProtKB
- positive regulation of protein localization to plasma membrane Source: UniProtKB
- positive regulation of voltage-gated calcium channel activity Source: UniProtKB
- skeletal muscle contraction Source: UniProtKB
- skeletal muscle fiber development Source: Ensembl
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q96MF2 |
Names & Taxonomyi
Protein namesi | Recommended name: SH3 and cysteine-rich domain-containing protein 3 |
Gene namesi | Name:STAC3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000185482.7 |
HGNCi | HGNC:28423, STAC3 |
MIMi | 615521, gene |
neXtProti | NX_Q96MF2 |
Subcellular locationi
Plasma membrane
- sarcolemma By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
- T-tubule By similarity
Other locations
- Cytoplasm By similarity
Note: Co-localizes with CACNA1S and CACNA1C on T-tubules.By similarity
Cytosol
- cytosol Source: HPA
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- extrinsic component of cytoplasmic side of plasma membrane Source: UniProtKB
- T-tubule Source: UniProtKB-SubCell
- voltage-gated calcium channel complex Source: UniProtKB
Other locations
- synapse Source: GOC
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Involvement in diseasei
Myopathy, congenital, Bailey-Bloch (MYPBB)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071313 | 284 | W → S in MYPBB; loss of interaction with CACNA1S. 3 PublicationsCorresponds to variant dbSNP:rs140291094EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 246329 |
MalaCardsi | STAC3 |
MIMi | 255995, phenotype |
OpenTargetsi | ENSG00000185482 |
Orphaneti | 168572, Native American myopathy |
PharmGKBi | PA134877600 |
Miscellaneous databases
Pharosi | Q96MF2, Tbio |
Polymorphism and mutation databases
BioMutai | STAC3 |
DMDMi | 74732360 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000232582 | 1 – 364 | SH3 and cysteine-rich domain-containing protein 3Add BLAST | 364 |
Proteomic databases
jPOSTi | Q96MF2 |
MassIVEi | Q96MF2 |
PaxDbi | Q96MF2 |
PeptideAtlasi | Q96MF2 |
PRIDEi | Q96MF2 |
ProteomicsDBi | 5195 77345 [Q96MF2-1] 77346 [Q96MF2-2] |
PTM databases
iPTMneti | Q96MF2 |
PhosphoSitePlusi | Q96MF2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000185482, Expressed in skeletal muscle tissue and 158 other tissues |
ExpressionAtlasi | Q96MF2, baseline and differential |
Genevisiblei | Q96MF2, HS |
Organism-specific databases
HPAi | ENSG00000185482, Group enriched (skeletal muscle, tongue) |
Interactioni
Subunit structurei
Interacts (via SH3 domains) with the calcium channels CACNA1S and CACNA1C (PubMed:29078335).
Component of a calcium channel complex with CACNA1S and CACNB1.
Component of a calcium channel complex with CACNA1C and CACNB1 (By similarity).
By similarity1 PublicationBinary interactionsi
Hide detailsQ96MF2
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 128899, 44 interactors |
IntActi | Q96MF2, 42 interactors |
MINTi | Q96MF2 |
STRINGi | 9606.ENSP00000329200 |
Miscellaneous databases
RNActi | Q96MF2, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96MF2 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q96MF2 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 247 – 306 | SH3 1PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 307 – 364 | SH3 2PROSITE-ProRule annotationAdd BLAST | 58 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 65 – 76 | Poly-GluAdd BLAST | 12 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 89 – 140 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 52 |
Keywords - Domaini
Repeat, SH3 domain, Zinc-fingerPhylogenomic databases
eggNOGi | ENOG502QT6I, Eukaryota |
GeneTreei | ENSGT00950000183092 |
HOGENOMi | CLU_048120_1_1_1 |
InParanoidi | Q96MF2 |
OMAi | NSLAAMM |
PhylomeDBi | Q96MF2 |
TreeFami | TF332878 |
Family and domain databases
CDDi | cd00029, C1, 1 hit cd11986, SH3_Stac3_1, 1 hit |
InterProi | View protein in InterPro IPR002219, PE/DAG-bd IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR039688, STAC1/2/3 IPR035736, Stac3_SH3_1 |
PANTHERi | PTHR15135, PTHR15135, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF00018, SH3_1, 1 hit PF07653, SH3_2, 1 hit |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00326, SH3, 2 hits |
SUPFAMi | SSF50044, SSF50044, 2 hits |
PROSITEi | View protein in PROSITE PS50002, SH3, 2 hits PS00479, ZF_DAG_PE_1, 1 hit PS50081, ZF_DAG_PE_2, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q96MF2-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTEKEVLESP KPSFPAETRQ SGLQRLKQLL RKGSTGTKEM ELPPEPQANG
60 70 80 90 100
EAVGAGGGPI YYIYEEEEEE EEEEEEPPPE PPKLVNDKPH KFKDHFFKKP
110 120 130 140 150
KFCDVCARMI VLNNKFGLRC KNCKTNIHEH CQSYVEMQRC FGKIPPGFHR
160 170 180 190 200
AYSSPLYSNQ QYACVKDLSA ANRNDPVFET LRTGVIMANK ERKKGQADKK
210 220 230 240 250
NPVAAMMEEE PESARPEEGK PQDGNPEGDK KAEKKTPDDK HKQPGFQQSH
260 270 280 290 300
YFVALYRFKA LEKDDLDFPP GEKITVIDDS NEEWWRGKIG EKVGFFPPNF
310 320 330 340 350
IIRVRAGERV HRVTRSFVGN REIGQITLKK DQIVVQKGDE AGGYVKVYTG
360
RKVGLFPTDF LEEI
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V5D4 | G3V5D4_HUMAN | SH3 and cysteine-rich domain-contai... | STAC3 | 168 | Annotation score: | ||
G3V2L9 | G3V2L9_HUMAN | SH3 and cysteine-rich domain-contai... | STAC3 | 104 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071313 | 284 | W → S in MYPBB; loss of interaction with CACNA1S. 3 PublicationsCorresponds to variant dbSNP:rs140291094EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055272 | 1 – 186 | Missing in isoform 3. 1 PublicationAdd BLAST | 186 | |
Alternative sequenceiVSP_017914 | 1 – 39 | Missing in isoform 2. 1 PublicationAdd BLAST | 39 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK057013 mRNA Translation: BAB71343.1 AK300688 mRNA Translation: BAG62371.1 AC137834 Genomic DNA No translation available. CH471054 Genomic DNA Translation: EAW97005.1 BC008069 mRNA Translation: AAH08069.1 |
CCDSi | CCDS66405.1 [Q96MF2-3] CCDS66406.1 [Q96MF2-2] CCDS8936.1 [Q96MF2-1] |
RefSeqi | NP_001273185.1, NM_001286256.1 [Q96MF2-2] NP_001273186.1, NM_001286257.1 [Q96MF2-3] NP_659501.1, NM_145064.2 [Q96MF2-1] XP_011536428.1, XM_011538126.2 [Q96MF2-1] |
Genome annotation databases
Ensembli | ENST00000332782; ENSP00000329200; ENSG00000185482 [Q96MF2-1] ENST00000546246; ENSP00000441515; ENSG00000185482 [Q96MF2-3] ENST00000554578; ENSP00000452068; ENSG00000185482 [Q96MF2-2] |
GeneIDi | 246329 |
KEGGi | hsa:246329 |
UCSCi | uc001snp.4, human [Q96MF2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK057013 mRNA Translation: BAB71343.1 AK300688 mRNA Translation: BAG62371.1 AC137834 Genomic DNA No translation available. CH471054 Genomic DNA Translation: EAW97005.1 BC008069 mRNA Translation: AAH08069.1 |
CCDSi | CCDS66405.1 [Q96MF2-3] CCDS66406.1 [Q96MF2-2] CCDS8936.1 [Q96MF2-1] |
RefSeqi | NP_001273185.1, NM_001286256.1 [Q96MF2-2] NP_001273186.1, NM_001286257.1 [Q96MF2-3] NP_659501.1, NM_145064.2 [Q96MF2-1] XP_011536428.1, XM_011538126.2 [Q96MF2-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2DB6 | NMR | - | A | 80-140 | [»] | |
6B29 | X-ray | 1.30 | A/B/C/D | 309-364 | [»] | |
6UY7 | X-ray | 2.10 | A | 245-364 | [»] | |
6UY8 | X-ray | 1.65 | A/B | 245-364 | [»] | |
6UY9 | X-ray | 1.60 | A | 245-364 | [»] | |
SMRi | Q96MF2 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 128899, 44 interactors |
IntActi | Q96MF2, 42 interactors |
MINTi | Q96MF2 |
STRINGi | 9606.ENSP00000329200 |
PTM databases
iPTMneti | Q96MF2 |
PhosphoSitePlusi | Q96MF2 |
Polymorphism and mutation databases
BioMutai | STAC3 |
DMDMi | 74732360 |
Proteomic databases
jPOSTi | Q96MF2 |
MassIVEi | Q96MF2 |
PaxDbi | Q96MF2 |
PeptideAtlasi | Q96MF2 |
PRIDEi | Q96MF2 |
ProteomicsDBi | 5195 77345 [Q96MF2-1] 77346 [Q96MF2-2] |
Protocols and materials databases
Antibodypediai | 28547, 76 antibodies |
DNASUi | 246329 |
Genome annotation databases
Ensembli | ENST00000332782; ENSP00000329200; ENSG00000185482 [Q96MF2-1] ENST00000546246; ENSP00000441515; ENSG00000185482 [Q96MF2-3] ENST00000554578; ENSP00000452068; ENSG00000185482 [Q96MF2-2] |
GeneIDi | 246329 |
KEGGi | hsa:246329 |
UCSCi | uc001snp.4, human [Q96MF2-1] |
Organism-specific databases
CTDi | 246329 |
DisGeNETi | 246329 |
EuPathDBi | HostDB:ENSG00000185482.7 |
GeneCardsi | STAC3 |
HGNCi | HGNC:28423, STAC3 |
HPAi | ENSG00000185482, Group enriched (skeletal muscle, tongue) |
MalaCardsi | STAC3 |
MIMi | 255995, phenotype 615521, gene |
neXtProti | NX_Q96MF2 |
OpenTargetsi | ENSG00000185482 |
Orphaneti | 168572, Native American myopathy |
PharmGKBi | PA134877600 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QT6I, Eukaryota |
GeneTreei | ENSGT00950000183092 |
HOGENOMi | CLU_048120_1_1_1 |
InParanoidi | Q96MF2 |
OMAi | NSLAAMM |
PhylomeDBi | Q96MF2 |
TreeFami | TF332878 |
Enzyme and pathway databases
PathwayCommonsi | Q96MF2 |
Miscellaneous databases
BioGRID-ORCSi | 246329, 10 hits in 839 CRISPR screens |
EvolutionaryTracei | Q96MF2 |
GenomeRNAii | 246329 |
Pharosi | Q96MF2, Tbio |
PROi | PR:Q96MF2 |
RNActi | Q96MF2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000185482, Expressed in skeletal muscle tissue and 158 other tissues |
ExpressionAtlasi | Q96MF2, baseline and differential |
Genevisiblei | Q96MF2, HS |
Family and domain databases
CDDi | cd00029, C1, 1 hit cd11986, SH3_Stac3_1, 1 hit |
InterProi | View protein in InterPro IPR002219, PE/DAG-bd IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR039688, STAC1/2/3 IPR035736, Stac3_SH3_1 |
PANTHERi | PTHR15135, PTHR15135, 1 hit |
Pfami | View protein in Pfam PF00130, C1_1, 1 hit PF00018, SH3_1, 1 hit PF07653, SH3_2, 1 hit |
PRINTSi | PR00452, SH3DOMAIN |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00326, SH3, 2 hits |
SUPFAMi | SSF50044, SSF50044, 2 hits |
PROSITEi | View protein in PROSITE PS50002, SH3, 2 hits PS00479, ZF_DAG_PE_1, 1 hit PS50081, ZF_DAG_PE_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | STAC3_HUMAN | |
Accessioni | Q96MF2Primary (citable) accession number: Q96MF2 Secondary accession number(s): B4DUK9, Q96HU5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 18, 2006 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 157 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations