ACTG1 (actin gamma 1)

2003-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
ACT,ACTG,DFNA20,DFNA26,HEL-176
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184009ENST00000570382K7EM38
ENSG00000184009ENST00000571691I3L4N8
ENSG00000184009ENST00000571721I3L3R2
ENSG00000184009ENST00000572105J3KT65
ENSG00000184009ENST00000573283P63261
ENSG00000184009ENST00000575087P63261
ENSG00000184009ENST00000575659I3L1U9
ENSG00000184009ENST00000575842P63261
ENSG00000184009ENST00000575994I3L3I0
ENSG00000184009ENST00000576544P63261
ENSG00000184009ENST00000615544P63261
ENSG00000184009ENST00000644774P63261

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000

Pathways

PathwaySourceExternal ID
ApoptosisKEGGko04210
Focal adhesionKEGGko04510
Adherens junctionKEGGko04520
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Regulation of actin cytoskeletonKEGGko04810
Vibrio cholerae infectionKEGGko05110
Pathogenic Escherichia coli infectionKEGGko05130
ApoptosisKEGGhsa04210
Focal adhesionKEGGhsa04510
Adherens junctionKEGGhsa04520
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Regulation of actin cytoskeletonKEGGhsa04810
Vibrio cholerae infectionKEGGhsa05110
Pathogenic Escherichia coli infectionKEGGhsa05130
ShigellosisKEGGhsa05131
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
Bacterial invasion of epithelial cellsKEGGko05100
Bacterial invasion of epithelial cellsKEGGhsa05100
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Influenza AKEGGko05164
Influenza AKEGGhsa05164
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Thyroid hormone signaling pathwayKEGGhsa04919
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate WASPs and WAVEsREACTOMER-HSA-5663213
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPHB-mediated forward signalingREACTOMER-HSA-3928662
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA446975Neurotoxicity SyndromesDiseaseClinicalAnnotationassociatedPD
PA451879vincristineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
373688392023Bioinformatic identification and experiment validation revealed that ACTG1 is a promising prognostic signature and therapeutic target for sepsis.0
375420272023Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1.10
373688392023Bioinformatic identification and experiment validation revealed that ACTG1 is a promising prognostic signature and therapeutic target for sepsis.0
375420272023Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1.10
348567252022Actin gamma 1 is a critical regulator of pancreatic ductal adenocarcinoma.2
350548772022De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.2
348567252022Actin gamma 1 is a critical regulator of pancreatic ductal adenocarcinoma.2
350548772022De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.2
335456322021ACTG1 regulates intervertebral disc degeneration via the NF-κB-p65 and Akt pathways.4
344404522021Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.6
347677322021Silencing ACTG1 Expression Induces Prostate Cancer Epithelial Mesenchymal Transition Through MAPK/ERK Signaling Pathway.8
335456322021ACTG1 regulates intervertebral disc degeneration via the NF-κB-p65 and Akt pathways.4
344404522021Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.6
347677322021Silencing ACTG1 Expression Induces Prostate Cancer Epithelial Mesenchymal Transition Through MAPK/ERK Signaling Pathway.8
320280422020Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.4

Citation

Dessen P

ACTG1 (actin gamma 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/561/img/haematological-explorer/js/template.js