ACTG1 - actin gamma 1 Gene

Homo sapiens

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

Gene ID: 71 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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