ACTG1 (actin gamma 1)

2003-11-01 Affiliation

Identity

HGNC

ACTG1

LOCATION

17q25.3

LOCUSID

ALIAS

ACT,ACTG,DFNA20,DFNA26,HEL-176

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 71
MIM: 102560
HGNC: 144
Ensembl: ENSG00000184009

Variants:

dbSNP: 71
ClinVar: 71
TCGA: ENSG00000184009
COSMIC: ACTG1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000184009	ENST00000570382	K7EM38
ENSG00000184009	ENST00000571691	I3L4N8
ENSG00000184009	ENST00000571721	I3L3R2
ENSG00000184009	ENST00000572105	J3KT65
ENSG00000184009	ENST00000573283	P63261
ENSG00000184009	ENST00000575087	P63261
ENSG00000184009	ENST00000575659	I3L1U9
ENSG00000184009	ENST00000575842	P63261
ENSG00000184009	ENST00000575994	I3L3I0
ENSG00000184009	ENST00000576544	P63261
ENSG00000184009	ENST00000615544	P63261
ENSG00000184009	ENST00000644774	P63261

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

4000

4500

5000

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Apoptosis	KEGG	ko04210
Focal adhesion	KEGG	ko04510
Adherens junction	KEGG	ko04520
Tight junction	KEGG	ko04530
Leukocyte transendothelial migration	KEGG	ko04670
Regulation of actin cytoskeleton	KEGG	ko04810
Vibrio cholerae infection	KEGG	ko05110
Pathogenic Escherichia coli infection	KEGG	ko05130
Apoptosis	KEGG	hsa04210
Focal adhesion	KEGG	hsa04510
Adherens junction	KEGG	hsa04520
Tight junction	KEGG	hsa04530
Leukocyte transendothelial migration	KEGG	hsa04670
Regulation of actin cytoskeleton	KEGG	hsa04810
Vibrio cholerae infection	KEGG	hsa05110
Pathogenic Escherichia coli infection	KEGG	hsa05130
Shigellosis	KEGG	hsa05131
Hypertrophic cardiomyopathy (HCM)	KEGG	ko05410
Hypertrophic cardiomyopathy (HCM)	KEGG	hsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Dilated cardiomyopathy	KEGG	ko05414
Dilated cardiomyopathy	KEGG	hsa05414
Viral myocarditis	KEGG	hsa05416
Bacterial invasion of epithelial cells	KEGG	ko05100
Bacterial invasion of epithelial cells	KEGG	hsa05100
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Influenza A	KEGG	ko05164
Influenza A	KEGG	hsa05164
Salmonella infection	KEGG	ko05132
Salmonella infection	KEGG	hsa05132
Hippo signaling pathway	KEGG	hsa04390
Hippo signaling pathway	KEGG	ko04390
Proteoglycans in cancer	KEGG	hsa05205
Proteoglycans in cancer	KEGG	ko05205
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
Thyroid hormone signaling pathway	KEGG	hsa04919
Platelet activation	KEGG	hsa04611
Oxytocin signaling pathway	KEGG	hsa04921
Oxytocin signaling pathway	KEGG	ko04921
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosis	REACTOME	R-HSA-2029480
Regulation of actin dynamics for phagocytic cup formation	REACTOME	R-HSA-2029482
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Rho GTPases	REACTOME	R-HSA-194315
RHO GTPase Effectors	REACTOME	R-HSA-195258
RHO GTPases Activate WASPs and WAVEs	REACTOME	R-HSA-5663213
RHO GTPases Activate Formins	REACTOME	R-HSA-5663220
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPHB-mediated forward signaling	REACTOME	R-HSA-3928662
Fluid shear stress and atherosclerosis	KEGG	ko05418
Fluid shear stress and atherosclerosis	KEGG	hsa05418

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA446975	Neurotoxicity Syndromes	Disease	ClinicalAnnotation	associated		PD
PA451879	vincristine	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
17088428	2006	Reassembly of contractile actin cortex in cell blebs.	215
17914456	2007	Structural basis for the recruitment of profilin-actin complexes during filament elongation by Ena/VASP.	91
22366783	2012	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.	78
19638415	2009	Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity.	76
13680526	2003	Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).	72
16365169	2005	Desmoplakin assembly dynamics in four dimensions: multiple phases differentially regulated by intermediate filaments and actin.	58
16901892	2006	A direct interaction between actin and vimentin filaments mediated by the tail domain of vimentin.	50
12612070	2003	RNA polymerase II accumulation in the promoter-proximal region of the dihydrofolate reductase and gamma-actin genes.	47
14684684	2003	A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26).	43
19110265	2009	Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.	43

Citation

Dessen P

ACTG1 (actin gamma 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/561/actg1