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Protein

SH3 and cysteine-rich domain-containing protein 3

Gene

STAC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

In skeletal muscles contraction, may play a role in neuromuscular synaptic transmission.1 Publication

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

  • intracellular signal transduction Source: InterPro
  • neuromuscular synaptic transmission Source: UniProtKB
  • skeletal muscle contraction Source: UniProtKB
  • skeletal muscle fiber development Source: Ensembl
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:G66-33248-MONOMER.

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

HGNCiHGNC:28423. STAC3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Native American myopathy (NAM)1 Publication
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. 1 PublicationCorresponds to variant rs140291094dbSNPEnsembl.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

Binary interactionsi

WithEntry#Exp.IntActNotes
itself5EBI-745680,EBI-745680
BAZ2BQ9UIF8-23EBI-745680,EBI-10321972
C11orf57Q6ZUT15EBI-745680,EBI-3920396
C11orf57Q6ZUT1-23EBI-745680,EBI-10180231
CSNK2A1P684005EBI-745680,EBI-347804
DIP2AQ14689-63EBI-745680,EBI-10233719
ENKD1Q9H0I23EBI-745680,EBI-744099
FAM124AQ86V423EBI-745680,EBI-744506
FAM133AQ8N9E05EBI-745680,EBI-10268158
FAM90A1Q86YD75EBI-745680,EBI-6658203
L3MBTL2Q969R53EBI-745680,EBI-739909
MAB21L3Q8N8X95EBI-745680,EBI-10268010
SREK1IP1Q8N9Q25EBI-745680,EBI-10268630
ZCCHC10Q8TBK66EBI-745680,EBI-597063
ZGPATQ8N5A53EBI-745680,EBI-3439227
ZGPATQ8N5A5-23EBI-745680,EBI-10183064

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi128899. 22 interactors.
IntActiQ96MF2. 33 interactors.
MINTiMINT-1456589.
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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB6NMR-A80-140[»]
ProteinModelPortaliQ96MF2.
SMRiQ96MF2.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96MF2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini247 – 306SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini309 – 364SH3 2PROSITE-ProRule annotationAdd BLAST56

Compositional bias

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

Sequence similaritiesi

Contains 1 phorbol-ester/DAG-type zinc finger.PROSITE-ProRule annotation
Contains 2 SH3 domains.PROSITE-ProRule annotation

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.
InterProiIPR002219. PE/DAG-bd.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00130. C1_1. 1 hit.
PF00018. SH3_1. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00109. C1. 1 hit.
SM00326. SH3. 2 hits.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiPS50002. SH3. 1 hit.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.
[Graphical view]

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. 1 PublicationCorresponds to variant rs140291094dbSNPEnsembl.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

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.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DB6NMR-A80-140[»]
ProteinModelPortaliQ96MF2.
SMRiQ96MF2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128899. 22 interactors.
IntActiQ96MF2. 33 interactors.
MINTiMINT-1456589.
STRINGi9606.ENSP00000329200.

PTM databases

iPTMnetiQ96MF2.
PhosphoSitePlusiQ96MF2.

Polymorphism and mutation databases

DMDMi74732360.

Proteomic databases

PaxDbiQ96MF2.
PeptideAtlasiQ96MF2.
PRIDEiQ96MF2.

Protocols and materials databases

DNASUi246329.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi246329.
DisGeNETi246329.
GeneCardsiSTAC3.
HGNCiHGNC:28423. STAC3.
HPAiHPA039285.
HPA039527.
MalaCardsiSTAC3.
MIMi255995. phenotype.
615521. gene.
neXtProtiNX_Q96MF2.
OpenTargetsiENSG00000185482.
Orphaneti168572. Native American myopathy.
PharmGKBiPA134877600.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:G66-33248-MONOMER.

Miscellaneous databases

EvolutionaryTraceiQ96MF2.
GenomeRNAii246329.
PROiQ96MF2.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

CDDicd00029. C1. 1 hit.
InterProiIPR002219. PE/DAG-bd.
IPR011511. SH3_2.
IPR001452. SH3_domain.
[Graphical view]
PfamiPF00130. C1_1. 1 hit.
PF00018. SH3_1. 1 hit.
PF07653. SH3_2. 1 hit.
[Graphical view]
PRINTSiPR00452. SH3DOMAIN.
SMARTiSM00109. C1. 1 hit.
SM00326. SH3. 2 hits.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 2 hits.
PROSITEiPS50002. SH3. 1 hit.
PS00479. ZF_DAG_PE_1. 1 hit.
PS50081. ZF_DAG_PE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTAC3_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 125 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.