ACTG1 - actin gamma 1 Gene

Also Known as ACT; ACTG; DFNA20; DFNA26; HEL-176

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 71

About ACTG1

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,509,971-81,512,799 (from NCBI)

This gene has 25 transcripts (splice variants), 169 orthologues, 26 paralogues and is associated with 9 phenotypes. Ubiquitous expression in ovary (RPKM 1227.2), esophagus (RPKM 970.4) and 25 other tissues.

Summary

Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the Cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the Cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

ACTG1 Products (2)

mRNA	Protein	Name
NM_001199954.3	NP_001186883.1	actin, cytoplasmic 2
NM_001614.5	NP_001605.1	actin, cytoplasmic 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables profilin binding	IDA IDA: Inferred from direct assay	28493397	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21753002	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within positive effect angiogenesis	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in morphogenesis of a polarized epithelium	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in positive regulation of cell migration	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in positive regulation of wound healing	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in protein localization to bicellular tight junction	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in regulation of focal adhesion assembly	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in regulation of stress fiber assembly	IMP IMP: Inferred from mutant phenotype	25705373	GOA
involved in regulation of transepithelial transport	IMP IMP: Inferred from mutant phenotype	22855531	GOA
involved in tight junction assembly	IMP IMP: Inferred from mutant phenotype	22855531	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in actin filament	IDA IDA: Inferred from direct assay	28493397	GOA
located in apical junction complex	IDA IDA: Inferred from direct assay	22855531	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	22855531	GOA
located in extracellular exosome	IDA IDA: Inferred from direct assay	21557262	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACTG1 Protein Structure

Actin

0
100
200
300
375 a.a.

Protein Preferred Names	Protein Names
actin, cytoplasmic 2	cytoskeletal gamma-actin

ACTG1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q549N0	Y2H Array	25416956
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q549N0	Y2H Prey Pooling	25416956
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Validated Y2H	25910212
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Y2H Prey Pooling	25416956
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Y2H Bait-Prey Pool	25910212
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Y2H Array	25910212
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Y2H Array	25416956
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	SLC	25910212
Intra	ACTG1	P63261	CAP2	Homo sapiens	P40123	Anti Tag CoIP	35271311
Intra	ACTG1	P63261	EHHADH	Homo sapiens	Q08426	Y2H Array	31515488
Intra	ACTG1	P63261	CDC37	Homo sapiens	Q16543	Validated Y2H	32296183
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Y2H Pooling	16189514
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Y2H Bait-Prey Pool	25910212
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	SLC	25910212
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Validated Y2H	25910212
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Y2H Array	25910212
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Anti Tag CoIP	35271311
Intra	ACTG1	P63261	CFL2	Homo sapiens	Q9Y281	Validated Y2H	32296183
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Array	25416956
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H	21516116
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Array	29892012
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Pooling	16189514
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	SLC	25910212
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Validated Y2H	25910212
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Array	31515488
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Prey Pooling	25416956
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Bait-Prey Pool	25910212
Intra	ACTG1	P63261	ACTB	Homo sapiens	P60709	Y2H Array	25910212
Intra	ACTG1	P63261	CFL1	Homo sapiens	P23528	Validated Y2H	25416956
Intra	ACTG1	P63261	CFL1	Homo sapiens	P23528	Y2H Array	25416956
Intra	ACTG1	P63261	CFL1	Homo sapiens	P23528	Y2H Prey Pooling	25416956
Intra	ACTG1	P63261	CFL1	Homo sapiens	P23528	Anti Tag CoIP	35271311
Intra	ACTG1	P63261	CFL1	Homo sapiens	P23528	Y2H Pooling	16189514
Intra	ACTG1	P63261	CCDC22	Homo sapiens	O60826	Validated Y2H	25416956
Intra	ACTG1	P63261	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183
Intra	ACTG1	P63261	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	ACTG1	P63261	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
Intra	ACTG1	P63261	MLH1	Homo sapiens	P40692	Anti Bait CoIP	20706999
Intra	ACTG1	P63261	MLH1	Homo sapiens	P40692	Y2H	20706999
Intra	ACTG1	P63261	MLH1	Homo sapiens	P40692	Anti Tag CoIP	20706999
Intra	ACTG1	P63261	MLH1	Homo sapiens	P40692	Confocal	20706999
Intra	ACTG1	P63261	DSTN	Homo sapiens	P60981	Validated Y2H	25416956
Intra	ACTG1	P63261	DSTN	Homo sapiens	P60981	Y2H Array	25416956
Intra	ACTG1	P63261	DSTN	Homo sapiens	P60981	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Baraitser-Winter Syndrome 2	BRWS2 Baraitser-Winter Syndrome, Type 2
Deafness, Autosomal Dominant 20	DFNA20 Dfna26 Deafness, Autosomal Dominant 20/26 Autosomal Dominant Nonsyndromic Deafness 20 Autosomal Dominant Deafness 20 Deafness, Autosomal Dominant, 20 Deafness Autosomal Dominant 26 Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 20 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 20 Deafness, Autosomal Dominant, Type 20/26
Baraitser-Winter Cerebrofrontofacial Syndrome
Retinochoroidal Coloboma	Coloboma Of Choroid And Retina Retinal Coloboma Choroidal Coloboma Chorioretinal Coloboma
Coloboma Of Iris	Iris Coloboma Cleft Iris Congenital Coloboma Of Iris Notched Iris Coloboma Nos Coloboma Of Iris, Choroid And Retina Coloboma Of Eye Congenital Ocular Coloboma Ocular Coloboma
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Baraitser-Winter Syndrome	Fryns-Aftimos Syndrome Brws Cerebro-Frontofacial Syndrome, Type 3 Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability Trigonocephaly Ptosis Coloboma Trigonocephaly Ptosis Intellectual Disability Cerebrofrontofacial Syndrome Type 3
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Pericytoma With T(7;12)
Rare Genetic Deafness	Rare Genetic Hearing Loss
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Intellectual Developmental Disorder, And Leber Congenital Amaurosis Shilca Syndrome SHILCA Spondyloepiphyseal Dysplasia-Sensorineural Hearing Loss-Intellectual Disability-Leber Congenital Amaurosis Syndrome
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Breast Myoepithelial Carcinoma
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Berdon Syndrome MMIHS Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome Visceral Myopathy Mmih Syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome MMIHS1 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih Mmhs
Trachea Leiomyoma	Tracheal Neoplasms Leiomyoma Of The Trachea Tracheal Neoplasm Tracheal Leiomyoma
Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction	Left Ventricular Noncompaction 3 Dilated Cardiomyopathy 1c CMD1C Cardiomyopathy, Hypertrophic, 24 Dilated Cardiomyopathy With Left Ventricular Noncompaction Cardiomyopathy, Dilated, 1c, With Or Without Lvnc Cmdc1 Dilated Cardiomyopathy 1c With Or Without Left Ventricular Noncompaction Cardiomyopathy, Dilated 1c, With Or Without Left Ventricular Non-Compaction Cardiomyopathy Dilated With Left Ventricular Noncompaction Cardiomyopathy, Familial Hypertrophic 24 CMH24 Left Ventricular Non-Compaction 3 LVNC3 Cardiomyopathy, Dilated 1c Familial Hypertrophic Cardiomyopathy 24 Cardiomyopathy, Dilated, 1c
Silo Filler'S Disease	Silo Filler Disease Silo-Fillers' Disease
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00218	ACTG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29451	Actg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ACTG1	MGD	MGI:87906
Bos taurus	ACTG1	VGNC	VGNC:107265
Rattus norvegicus	ACTG1	RGD	RGD:1304556
Others	ACTG1	NCBI