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Protein

Actin, gamma-enteric smooth muscle

Gene

ACTG2

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

Functioni

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

Miscellaneous

In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMuscle protein
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiP63267
SIGNORiP63267

Names & Taxonomyi

Protein namesi
Recommended name:
Actin, gamma-enteric smooth muscle
Alternative name(s):
Alpha-actin-3
Gamma-2-actin
Smooth muscle gamma-actin
Cleaved into the following chain:
Gene namesi
Name:ACTG2
Synonyms:ACTA3, ACTL3, ACTSG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000163017.13
HGNCiHGNC:145 ACTG2
MIMi102545 gene
neXtProtiNX_P63267

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

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Visceral myopathy (VSCM)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare inherited form of myopathic pseudo-obstruction characterized by impaired function of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. The disease shows inter- and intrafamilial variability. Most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and dependence on total parenteral nutrition and urinary catheterization.
See also OMIM:155310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07127940R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777385EnsemblClinVar.1
Natural variantiVAR_07128040R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777386EnsemblClinVar.1
Natural variantiVAR_07128145M → T in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309490EnsemblClinVar.1
Natural variantiVAR_07128263R → G in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309491EnsemblClinVar.1
Natural variantiVAR_071283110P → L in VSCM. 1 Publication1
Natural variantiVAR_071284134Y → N in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777388EnsemblClinVar.1
Natural variantiVAR_071285148R → S in VSCM. 2 PublicationsCorresponds to variant dbSNP:rs587777383EnsemblClinVar.1
Natural variantiVAR_071286178R → C in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 2 PublicationsCorresponds to variant dbSNP:rs78001248EnsemblClinVar.1
Natural variantiVAR_071287178R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071288178R → L in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071289198G → D in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309492EnsemblClinVar.1
Natural variantiVAR_071290257R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777387EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi72
MalaCardsiACTG2
MIMi155310 phenotype
OpenTargetsiENSG00000163017
Orphaneti2604 Familial visceral myopathy
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
104077 Myopathic intestinal pseudoobstruction
PharmGKBiPA24469

Polymorphism and mutation databases

BioMutaiACTG2
DMDMi54036679

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved
ChainiPRO_00004429492 – 376Actin, gamma-enteric smooth muscle, intermediate formBy similarityAdd BLAST375
ChainiPRO_00004429503 – 376Actin, gamma-enteric smooth muscleAdd BLAST374

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylcysteine; in intermediate formBy similarity1
Modified residuei3N-acetylglutamate; in Actin, gamma-enteric smooth muscleCombined sources1
Modified residuei45Methionine (R)-sulfoxideBy similarity1
Modified residuei48Methionine (R)-sulfoxideBy similarity1
Cross-linki51Isoglutamyl lysine isopeptide (Lys-Glu) (interchain with E-271); by Vibrio toxins RtxA and VgrG1By similarity
Cross-linki271Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-51); by Vibrio toxins RtxA and VgrG1By similarity

Post-translational modificationi

Oxidation of Met-45 and Met-48 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament depolymerization. MICAL1 and MICAL2 produce the (R)-S-oxide form. The (R)-S-oxide form is reverted by MSRB1 and MSRB2, which promotes actin repolymerization.By similarity
Monomethylation at Lys-85 (K84me1) regulates actin-myosin interaction and actomyosin-dependent processes. Demethylation by ALKBH4 is required for maintaining actomyosin dynamics supporting normal cleavage furrow ingression during cytokinesis and cell migration.By similarity
(Microbial infection) Monomeric actin is cross-linked by V.cholerae toxins RtxA and VgrG1 in case of infection: bacterial toxins mediate the cross-link between Lys-51 of one monomer and Glu-271 of another actin monomer, resulting in formation of highly toxic actin oligomers that cause cell rounding (PubMed:19015515). The toxin can be highly efficient at very low concentrations by acting on formin homology family proteins: toxic actin oligomers bind with high affinity to formins and adversely affect both nucleation and elongation abilities of formins, causing their potent inhibition in both profilin-dependent and independent manners (PubMed:26228148).2 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Oxidation

Proteomic databases

MaxQBiP63267
PaxDbiP63267
PeptideAtlasiP63267
PRIDEiP63267
ProteomicsDBi57515

2D gel databases

OGPiP12718

PTM databases

iPTMnetiP63267
PhosphoSitePlusiP63267
SwissPalmiP63267

Miscellaneous databases

PMAP-CutDBiP63267

Expressioni

Gene expression databases

BgeeiENSG00000163017 Expressed in 195 organ(s), highest expression level in myometrium
CleanExiHS_ACTG2
ExpressionAtlasiP63267 baseline and differential
GenevisibleiP63267 HS

Organism-specific databases

HPAiHPA041264
HPA041271

Interactioni

Subunit structurei

Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.

Protein-protein interaction databases

BioGridi106587, 17 interactors
CORUMiP63267
IntActiP63267, 11 interactors
MINTiP63267
STRINGi9606.ENSP00000295137

Structurei

3D structure databases

ProteinModelPortaliP63267
SMRiP63267
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the actin family.Curated

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00930000150927
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP63267
KOiK12315
OMAiPXEREIV
OrthoDBiEOG091G08LD
PhylomeDBiP63267
TreeFamiTF354237

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
PROSITEiView protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P63267-1) [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
MCEEETTALV CDNGSGLCKA GFAGDDAPRA VFPSIVGRPR HQGVMVGMGQ
60 70 80 90 100
KDSYVGDEAQ SKRGILTLKY PIEHGIITNW DDMEKIWHHS FYNELRVAPE
110 120 130 140 150
EHPTLLTEAP LNPKANREKM TQIMFETFNV PAMYVAIQAV LSLYASGRTT
160 170 180 190 200
GIVLDSGDGV THNVPIYEGY ALPHAIMRLD LAGRDLTDYL MKILTERGYS
210 220 230 240 250
FVTTAEREIV RDIKEKLCYV ALDFENEMAT AASSSSLEKS YELPDGQVIT
260 270 280 290 300
IGNERFRCPE TLFQPSFIGM ESAGIHETTY NSIMKCDIDI RKDLYANNVL
310 320 330 340 350
SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL
360 370
STFQQMWISK PEYDEAGPSI VHRKCF
Length:376
Mass (Da):41,877
Last modified:October 11, 2004 - v1
Checksum:i6EC08CD5EEAD445E
GO
Isoform 2 (identifier: P63267-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-85: Missing.

Note: No experimental confirmation available.
Show »
Length:333
Mass (Da):37,083
Checksum:i1D423B1372E4BFCD
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JFL5C9JFL5_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
144Annotation score:
B8ZZJ2B8ZZJ2_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
119Annotation score:
F8WB63F8WB63_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
105Annotation score:
F8WCH0F8WCH0_HUMAN
Actin, gamma-enteric smooth muscle
ACTG2
52Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti130V → F in CAG38753 (Ref. 4) Curated1
Sequence conflicti157G → C in BAG65327 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07127940R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777385EnsemblClinVar.1
Natural variantiVAR_07128040R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777386EnsemblClinVar.1
Natural variantiVAR_07128145M → T in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309490EnsemblClinVar.1
Natural variantiVAR_07128263R → G in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309491EnsemblClinVar.1
Natural variantiVAR_071283110P → L in VSCM. 1 Publication1
Natural variantiVAR_071284134Y → N in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777388EnsemblClinVar.1
Natural variantiVAR_071285148R → S in VSCM. 2 PublicationsCorresponds to variant dbSNP:rs587777383EnsemblClinVar.1
Natural variantiVAR_071286178R → C in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 2 PublicationsCorresponds to variant dbSNP:rs78001248EnsemblClinVar.1
Natural variantiVAR_071287178R → H in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071288178R → L in VSCM; interferes with proper polymerization into thin filaments leading to impaired contractility of the smooth muscle. 1 PublicationCorresponds to variant dbSNP:rs587777384EnsemblClinVar.1
Natural variantiVAR_071289198G → D in VSCM. 1 PublicationCorresponds to variant dbSNP:rs864309492EnsemblClinVar.1
Natural variantiVAR_071290257R → C in VSCM. 1 PublicationCorresponds to variant dbSNP:rs587777387EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04586143 – 85Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16940 mRNA Translation: CAA34814.1
D00654 Genomic DNA Translation: BAA00546.1
AK304523 mRNA Translation: BAG65327.1
AK312955 mRNA Translation: BAG35794.1
CR536515 mRNA Translation: CAG38753.1
CR541794 mRNA Translation: CAG46593.1
AC073046 Genomic DNA Translation: AAX88909.1
CH471053 Genomic DNA Translation: EAW99713.1
BC012617 mRNA Translation: AAH12617.1
BC094877 mRNA Translation: AAH94877.1
CCDSiCCDS1930.1 [P63267-1]
CCDS56124.1 [P63267-2]
PIRiA40261
RefSeqiNP_001186822.1, NM_001199893.1 [P63267-2]
NP_001606.1, NM_001615.3 [P63267-1]
UniGeneiHs.516105

Genome annotation databases

EnsembliENST00000345517; ENSP00000295137; ENSG00000163017 [P63267-1]
ENST00000409624; ENSP00000386857; ENSG00000163017 [P63267-1]
ENST00000409731; ENSP00000386929; ENSG00000163017 [P63267-2]
GeneIDi72
KEGGihsa:72
UCSCiuc002sjw.4 human [P63267-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16940 mRNA Translation: CAA34814.1
D00654 Genomic DNA Translation: BAA00546.1
AK304523 mRNA Translation: BAG65327.1
AK312955 mRNA Translation: BAG35794.1
CR536515 mRNA Translation: CAG38753.1
CR541794 mRNA Translation: CAG46593.1
AC073046 Genomic DNA Translation: AAX88909.1
CH471053 Genomic DNA Translation: EAW99713.1
BC012617 mRNA Translation: AAH12617.1
BC094877 mRNA Translation: AAH94877.1
CCDSiCCDS1930.1 [P63267-1]
CCDS56124.1 [P63267-2]
PIRiA40261
RefSeqiNP_001186822.1, NM_001199893.1 [P63267-2]
NP_001606.1, NM_001615.3 [P63267-1]
UniGeneiHs.516105

3D structure databases

ProteinModelPortaliP63267
SMRiP63267
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106587, 17 interactors
CORUMiP63267
IntActiP63267, 11 interactors
MINTiP63267
STRINGi9606.ENSP00000295137

PTM databases

iPTMnetiP63267
PhosphoSitePlusiP63267
SwissPalmiP63267

Polymorphism and mutation databases

BioMutaiACTG2
DMDMi54036679

2D gel databases

OGPiP12718

Proteomic databases

MaxQBiP63267
PaxDbiP63267
PeptideAtlasiP63267
PRIDEiP63267
ProteomicsDBi57515

Protocols and materials databases

DNASUi72
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000345517; ENSP00000295137; ENSG00000163017 [P63267-1]
ENST00000409624; ENSP00000386857; ENSG00000163017 [P63267-1]
ENST00000409731; ENSP00000386929; ENSG00000163017 [P63267-2]
GeneIDi72
KEGGihsa:72
UCSCiuc002sjw.4 human [P63267-1]

Organism-specific databases

CTDi72
DisGeNETi72
EuPathDBiHostDB:ENSG00000163017.13
GeneCardsiACTG2
HGNCiHGNC:145 ACTG2
HPAiHPA041264
HPA041271
MalaCardsiACTG2
MIMi102545 gene
155310 phenotype
neXtProtiNX_P63267
OpenTargetsiENSG00000163017
Orphaneti2604 Familial visceral myopathy
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome
104077 Myopathic intestinal pseudoobstruction
PharmGKBiPA24469
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0676 Eukaryota
COG5277 LUCA
GeneTreeiENSGT00930000150927
HOGENOMiHOG000233340
HOVERGENiHBG003771
InParanoidiP63267
KOiK12315
OMAiPXEREIV
OrthoDBiEOG091G08LD
PhylomeDBiP63267
TreeFamiTF354237

Enzyme and pathway databases

ReactomeiR-HSA-445355 Smooth Muscle Contraction
SignaLinkiP63267
SIGNORiP63267

Miscellaneous databases

ChiTaRSiACTG2 human
GeneWikiiACTG2
GenomeRNAii72
PMAP-CutDBiP63267
PROiPR:P63267
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163017 Expressed in 195 organ(s), highest expression level in myometrium
CleanExiHS_ACTG2
ExpressionAtlasiP63267 baseline and differential
GenevisibleiP63267 HS

Family and domain databases

InterProiView protein in InterPro
IPR004000 Actin
IPR020902 Actin/actin-like_CS
IPR004001 Actin_CS
PANTHERiPTHR11937 PTHR11937, 1 hit
PfamiView protein in Pfam
PF00022 Actin, 1 hit
PRINTSiPR00190 ACTIN
SMARTiView protein in SMART
SM00268 ACTIN, 1 hit
PROSITEiView protein in PROSITE
PS00406 ACTINS_1, 1 hit
PS00432 ACTINS_2, 1 hit
PS01132 ACTINS_ACT_LIKE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiACTH_HUMAN
AccessioniPrimary (citable) accession number: P63267
Secondary accession number(s): B2R7E7
, B4E315, D6W5H8, E9PG30, P12718, Q504R1, Q6FI22
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: October 11, 2004
Last modified: November 7, 2018
This is version 135 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

Complete proteome, Reference proteome

Documents

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