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Protein

SH3 and cysteine-rich domain-containing protein 3

Gene

STAC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 (in vitro) (PubMed:29078335).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri89 – 140Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST52

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 and cysteine-rich domain-containing protein 3
Gene namesi
Name:STAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000185482.7.
HGNCiHGNC:28423. STAC3.
MIMi615521. gene.
neXtProtiNX_Q96MF2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Native American myopathy (NAM)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia provoked by anesthesia.
See also OMIM:255995
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071313284W → S in NAM; loss of interaction with CACNA1S. 2 PublicationsCorresponds to variant dbSNP:rs140291094Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi246329.
MalaCardsiSTAC3.
MIMi255995. phenotype.
OpenTargetsiENSG00000185482.
Orphaneti168572. Native American myopathy.
PharmGKBiPA134877600.

Polymorphism and mutation databases

DMDMi74732360.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002325821 – 364SH3 and cysteine-rich domain-containing protein 3Add BLAST364

Proteomic databases

PaxDbiQ96MF2.
PeptideAtlasiQ96MF2.
PRIDEiQ96MF2.

PTM databases

iPTMnetiQ96MF2.
PhosphoSitePlusiQ96MF2.

Expressioni

Gene expression databases

BgeeiENSG00000185482.
CleanExiHS_STAC3.
ExpressionAtlasiQ96MF2. baseline and differential.
GenevisibleiQ96MF2. HS.

Organism-specific databases

HPAiHPA039285.
HPA039527.

Interactioni

Subunit structurei

Interacts (via SH3 domains) with CACNA1S and CACNA1C (PubMed:29078335). Component of a calcium channel complex with CACNA1S. Component of a calcium channel complex with CACNA1C.By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi128899. 22 interactors.
IntActiQ96MF2. 39 interactors.
MINTiQ96MF2.
STRINGi9606.ENSP00000329200.

Structurei

Secondary structure

1364
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi87 – 89Combined sources3
Beta strandi92 – 96Combined sources5
Beta strandi104 – 106Combined sources3
Helixi112 – 115Combined sources4
Beta strandi116 – 123Combined sources8
Turni129 – 132Combined sources4
Helixi133 – 135Combined sources3
Beta strandi136 – 139Combined sources4
Beta strandi310 – 313Combined sources4
Helixi321 – 323Combined sources3
Beta strandi333 – 341Combined sources9
Beta strandi344 – 348Combined sources5
Beta strandi353 – 357Combined sources5
Helixi358 – 360Combined sources3
Beta strandi361 – 364Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB6NMR-A80-140[»]
6B29X-ray1.30A/B/C/D309-364[»]
ProteinModelPortaliQ96MF2.
SMRiQ96MF2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96MF2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini247 – 306SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini307 – 364SH3 2PROSITE-ProRule annotationAdd BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi65 – 76Poly-GluAdd BLAST12

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri89 – 140Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST52

Keywords - Domaini

Repeat, SH3 domain, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IFB4. Eukaryota.
ENOG410YWV2. LUCA.
GeneTreeiENSGT00390000008822.
HOGENOMiHOG000230980.
HOVERGENiHBG017859.
InParanoidiQ96MF2.
OMAiKNSLAAM.
OrthoDBiEOG091G085P.
PhylomeDBiQ96MF2.
TreeFamiTF332878.

Family and domain databases

CDDicd00029. C1. 1 hit.
cd11986. SH3_Stac3_1. 1 hit.
InterProiView protein in InterPro
IPR002219. PE/DAG-bd.
IPR036028. SH3-like_dom_sf.
IPR001452. SH3_domain.
IPR035736. Stac3_SH3_1.
PfamiView protein in Pfam
PF00130. C1_1. 1 hit.
PF00018. SH3_1. 1 hit.
PF07653. SH3_2. 1 hit.
PRINTSiPR00452. SH3DOMAIN.
SMARTiView protein in SMART
SM00109. C1. 1 hit.
SM00326. SH3. 2 hits.
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiView protein in PROSITE
PS50002. SH3. 2 hits.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96MF2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:364
Mass (Da):41,507
Last modified:December 1, 2001 - v1
Checksum:i9464C4F035FEDB98
GO
Isoform 2 (identifier: Q96MF2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.

Show »
Length:325
Mass (Da):37,138
Checksum:i89A5DB6F1CD2022F
GO
Isoform 3 (identifier: Q96MF2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-186: Missing.

Note: No experimental confirmation available.
Show »
Length:178
Mass (Da):20,304
Checksum:i185FF8AD4BE8CB38
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071313284W → S in NAM; loss of interaction with CACNA1S. 2 PublicationsCorresponds to variant dbSNP:rs140291094Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0552721 – 186Missing in isoform 3. 1 PublicationAdd BLAST186
Alternative sequenceiVSP_0179141 – 39Missing in isoform 2. 1 PublicationAdd BLAST39

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.
CCDSiCCDS66405.1. [Q96MF2-3]
CCDS66406.1. [Q96MF2-2]
CCDS8936.1. [Q96MF2-1]
RefSeqiNP_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]
UniGeneiHs.417595.

Genome annotation databases

EnsembliENST00000332782; ENSP00000329200; ENSG00000185482. [Q96MF2-1]
ENST00000546246; ENSP00000441515; ENSG00000185482. [Q96MF2-3]
ENST00000554578; ENSP00000452068; ENSG00000185482. [Q96MF2-2]
GeneIDi246329.
KEGGihsa:246329.
UCSCiuc001snp.4. human. [Q96MF2-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiSTAC3_HUMAN
AccessioniPrimary (citable) accession number: Q96MF2
Secondary accession number(s): B4DUK9, Q96HU5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome