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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACTG1 Gene

protein-coding GIFtS: 70
GCID: GC17M079476

actin, gamma 1

(Previous names: deafness, autosomal dominant 20; deafness, autosomal dominant...)
(Previous symbols: ACTG, DFNA20, DFNA26)

Explore 51 diseases affiliated with
ACTG1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Actin, Gamma 1¹ ²		BRWS2²
ACTG¹ ² ³		Actin, Cytoplasmic 2²
DFNA20¹ ² ⁵		Cytoskeletal Gamma-Actin²
DFNA26¹ ² ⁵		ACTB³
Deafness, Autosomal Dominant 20; Deafness, Autosomal Dominant 26¹		Gamma-Actin¹
ACT²

External Ids:	HGNC: 144¹	Entrez Gene: 71²	Ensembl: ENSG00000184009⁷	OMIM: 102560⁵	UniProtKB: P63261³

Export aliases for ACTG1 gene to outside databases

Previous GC identifers: GC17U990001 GC17P080051 GC17M080178 GC17M080179 GC17M077091 GC17M074925

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACTG1:

Actins are highly conserved proteins that are involved in various types of cell motility, and maintenance of the

cytoskeleton. In vertebrates, three 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 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 non-muscle cells. Mutations in this gene are

associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss.

Alternative splicing results in multiple transcript variants.(provided by RefSeq, Jan 2011)

UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

summary for ACTG1:

Actin is a ubiquitous globular protein that is one of the most highly-conserved proteins known. It is found

in two main states; G-actin is the globular monomeric form, whereas F-actin forms helical polymers. Both G-

and F-actin are intrinsically flexible structures - a feature vital in actin's role as a dynamic filament

network. Actin has four major functions. Firstly, F-actin polymers form microfilaments - polar intracellular

'tracks' for kinesin motor proteins, allowing the transport of vesicles, organelles and other cargo. Actin

is a component of the cytoskeleton and links to alpha-actinin, E-cadherin and beta-catenin at adherens

junctions. This gives mechanical support to cells and attaches them to each other and the extracellular

matrix. In muscle cells, actin-rich thin filaments associate with myosin-rich thick filaments to form

actomyosin myofibrils. Using energy from the hydrolysis of ATP, myofibrils undergo cyclic shortening through

actin-myosin head interactions, which represents the mechanics of muscle contraction. Finally, actin has a

role in cell motility through polymerization and depolymerization of fibrils.

Gene Wiki entry for ACTG1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACTG1 gene promoter:
p53 AP-4 Meis-1b E2F-1 E2F c-Myb Meis-1a Pax-4a TGIF Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACTG1 promoter sequence

Search SABiosciences Chromatin IP Primers for ACTG1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACTG1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25 Ensembl cytogenetic band: 17q25.3 HGNC cytogenetic band: 17q25

ACTG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACTG1 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M079476: view genomic region (about GC identifiers)

Start:	79,476,997 bp from pter	End:	79,490,873 bp from pter
Size:	13,877 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261 (See protein sequence)

Recommended Name: Actin, cytoplasmic 2

Size: 375 amino acids; 41793 Da

Subunit: 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

Subcellular location: Cytoplasm, cytoskeleton

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

Secondary accessions: A8K7C2 P02571 P14104 P99022 Q5U032 Q96E67

Explore the universe of human proteins at neXtProt for ACTG1: NX_P63261

Post-translational modifications:

The methylhistidine determined by Bienvenut et al is assumed to be the tele-methylhistidine isomer by similarity to the

mouse ortholog¹

Oxidation of Met-44 by MICALs (MICAL1, MICAL2 or MICAL3) to form methionine sulfoxide promotes actin filament

depolymerization. Methionine sulfoxide is produced stereospecifically, but it is not known whether the (S)-S-oxide or

the (R)-S-oxide is produced (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P63261

ACTG1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001186883.1 NP_001605.1

ENSEMBL proteins:

ENSP00000331514 ENSP00000458435 ENSP00000458162 ENSP00000460472 ENSP00000459124

ENSP00000461672 ENSP00000462823 ENSP00000461407 ENSP00000460464 ENSP00000459119

ENSP00000460660 ENSP00000466346

Reactome Protein details: P63261
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for ACTG1
	Browse Proteins at Uscn

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005829	cytosol	TAS	--
GO:0005856	cytoskeleton	TAS	16130169
GO:0015629	actin cytoskeleton	--	--
GO:0030016	myofibril	IEA	--

ACTG1 for ontologies About GeneDecksing

ACTG1 Antibody Products:

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	ThermoFisher Antibodies for ACTG1

Assay Products for ACTG1:

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	GenScript Custom Assay Services for ACTG1
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACTG1 for domains About GeneDecksing

3 InterPro domains/families:

IPR004001 Actin_CS

IPR004000 Actin-related

IPR020902 Actin/actin-like_CS

Graphical View of Domain Structure for InterPro Entry P63261

ProtoNet protein and cluster: P63261

UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261

Similarity: Belongs to the actin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261

Function: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously

expressed in all eukaryotic cells

Genatlas biochemistry entry for ACTG1:

actin,gamma,cytoplasmic 1 major constituent of microfilaments

miRNA Products:		miRTarBase miRNAs that target ACTG1: hsa-let-7b (MIRT001852)

		OriGene 3'-UTR Clone: ACTG1 Browse MicroRNA Expression Plasmids
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		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate ACTG1 (see all 16):
		hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-300 hsa-miR-10b hsa-miR-624 hsa-miR-512-3p hsa-miR-103a hsa-miR-105

		SwitchGear 3'UTR luciferase reporter plasmid: ACTG1 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACTG1 (see all 6) Browse OriGene siRNA
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DNA2.0 Custom Protein Engineering Service for ACTG1

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		Search LifeMap BioReagents cell lines for ACTG1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACTG1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005200	structural constituent of cytoskeleton	IC	16130169
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0019901	protein kinase binding	--	--
GO:0042802	identical protein binding	IPI	16189514

ACTG1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ACTG1:

Increased focal adhesion (FA)

Animal Models:
Mouse knock-out Actg1^tm1.1Erv for ACTG1
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Actg1):

behavior/neurological	digestive/alimentary	growth/size	hearing/vestibular/ear	mortality/aging
muscle	nervous system

ACTG1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/74 super-pathways (see all 74) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cell adhesion_Integrin-mediated cell adhesion and migration

8/10 pathways (see all 10)
Cell adhesion_Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Integrin outside-in signaling	0.37
Cell adhesion Integrin-mediated cell adhesion and migration	1.00	Cytoskeleton remodeling Fibronectin-binding integrins in cell motility	0.32
Cytoskeleton remodeling_Regulation of actin cytoskeleton by Rho GTPases	0.49	Cytoskeleton remodeling_Fibronectin-binding integrins in cell motility	0.32
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases	0.49	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms	0.21

G-protein signaling_RAC1 in cellular process

	G-protein signaling_RAC1 in cellular process	1.00			Cytoskeleton remodeling_CDC42 in cellular processes	0.37
	G-protein signaling RAC1 in cellular process	1.00			Cytoskeleton remodeling CDC42 in cellular processes	0.37

Cell-cell junction organization

	Cell-cell junction organization	1.00			Adherens junctions interactions	0.51
	Cell junction organization	0.69			Cell-Cell communication	0.45

Regulation of actin dynamics for phagocytic cup formation

	Regulation of actin dynamics for phagocytic cup formation	1.00			Fcgamma receptor (FCGR) dependent phagocytosis	0.80
	Role of myosins in phagosome formation	0.80			Branching and elongation of mother and daughter filaments	0.29

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

5/24 EMD Millipore Pathways for ACTG1 (see all 24)

	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	Immune response CD16 signaling in NK cells
	Immune response Role of DAP12 receptors in NK cells
	Immune response CCR3 signaling in eosinophils
	Cytoskeleton remodeling Keratin filaments

5/43 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ACTG1 (see all 43)

	RhoA Pathway
	Paxillin Interactions
	Antioxidant Action of Vitamin-C
	Tec Kinases Signaling
	ITK and TCR Signaling

1 Cell Signaling Technology (CST) Pathway for ACTG1

Cytoskeletal Signaling

5/27 GeneGo (Thomson Reuters) Pathways for ACTG1 (see all 27)

	Immune response CD16 signaling in NK cells
	Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
	Cell adhesion Endothelial cell contacts by non-junctional mechanisms
	Cytoskeleton remodeling Keratin filaments
	Development Slit-Robo signaling

5/6 BioSystems Pathways for ACTG1 (see all 6)

	Myometrial Relaxation and Contraction Pathways
	Focal Adhesion
	Regulation of Actin Cytoskeleton
	Arrhythmogenic right ventricular cardiomyopathy
	Pathogenic Escherichia coli infection

5/24 Reactome Pathways for ACTG1 (see all 24)

	L1CAM interactions
	Developmental Biology
	Role of myosins in phagosome formation
	Membrane Trafficking
	Branching and elongation of mother and daughter filaments

5/15 Kegg Pathways (Kegg details for ACTG1) (see all 15):

	Phagosome
	Focal adhesion
	Adherens junction
	Tight junction
	Leukocyte transendothelial migration

ACTG1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACTG1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/602 Interacting proteins for ACTG1 (P63261^{1, 2, 3} ENSP00000331514⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 602)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805²^,³	MINT-7899812 I2D: score=2
HIST1H4B	P62805²^,³	MINT-7899812 I2D: score=2
HIST1H4C	P62805²^,³	MINT-7899812 I2D: score=2
HIST1H4D	P62805²^,³	MINT-7899812 I2D: score=2
HIST1H4E	P62805²^,³	MINT-7899812 I2D: score=2

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006928	cellular component movement	TAS	16130169
GO:0007409	axonogenesis	--	--
GO:0007411	axon guidance	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0034329	cell junction assembly	TAS	--

ACTG1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACTG1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for ACTG1 available from Tocris Bioscience About this table

Compound	Action	CAS #
187-1, N-WASP inhibitor	Inhibits actin assembly	[380488-27-7]
Cytochalasin D	Disrupts actin filament function	[22144-77-0]
Thymosin beta4	Potent actin polymerization regulator	[77591-33-4]

9 Novoseek chemical compound relationships for ACTG1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
actb	95	45	18191039 (3), 16777070 (3), 15720708 (3), 19587781 (3) (see all 24)
glyceraldehyde 3-phosphate	53.9	7	18191039 (1), 16777070 (1), 20113474 (1), 8367299 (1) (see all 7)
jasplakinolide	50.4	1	15342343 (1)
cytochalasin d	41	1	1577858 (1)
hypoxanthine	38.6	4	18191039 (1), 16777070 (1), 18983665 (1), 17257226 (1)
pip2	34.1	2	8547642 (1), 8780652 (1)
calcium	0	2	20308063 (2)
superoxide	0	1	8226538 (1)
dexamethasone	0	8	18191039 (2), 16777070 (2), 7895671 (1)

Search CenterWatch for drugs/clinical trials and news about ACTG1 / ACTG

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACTG1 gene (2 alternative transcripts):

NM_001199954.1 NM_001614.3

Unigene Clusters for ACTG1:

Actin, gamma 1

Hs.514581 [show with all ESTs], Hs.706229 [show with all ESTs]

Unigene Representative Sequences: BF569066, BF686833

16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000331925(uc002kag.3 uc002kal.2) ENST00000573283(uc002kak.2)

ENST00000575842 ENST00000576917 ENST00000574671 ENST00000576209 ENST00000571327

ENST00000575087 ENST00000576544 ENST00000572105 ENST00000576214 ENST00000571691

ENST00000575994 ENST00000575659 ENST00000571721 ENST00000570382

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Additional cDNA sequence:

AK301175.1 HM358953.1

24/329 DOTS entries (see all 329):

DT.100750836 DT.101987720 DT.92033430 DT.100750752 DT.100750945 DT.100750646 DT.87009547 DT.101986577

DT.100750858 DT.100750953 DT.100750483 DT.100750381 DT.91733472 DT.91941217 DT.454930 DT.91960848

DT.98083489 DT.100855754 DT.100750686 DT.100750698 DT.100750615 DT.75154030 DT.100750792 DT.95072607

24/231 AceView cDNA sequences (see all 231):

CR613019 CR598971 CR597515 CR591509 CR606241 CR592707 CR612577 CR610162

CR603777 CR592736 CR620121 CR616006 CR619966 CR606346 CR617232 CR615292

CR614891 BC039144 CR618978 CR612876 CR615291 CR614730 CR599830 CR598949

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ACTG1 (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3a	·	3b	·	3c	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	^	7a	·	7b
SP1:							-												-		-								-
SP2:							-												-		-
SP3:																			-		-
SP4:																			-										-
SP5:							-				-		-						-		-

ECgene alternative splicing isoforms for ACTG1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACTG1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAGCCTCAC

About this image

ACTG1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

ES04(HES-4) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACTG1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACTG1

SOURCE GeneReport for Unigene clusters: Hs.514581 Hs.706229

SABiosciences Custom PCR Arrays for ACTG1

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ACTG1 gene from 9/34 species (see all 34) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	LOC776816¹	actin, cytoplasmic 2-like	90.22(n) 100(a)		776816 XM_001236315.2 XP_001236316.2
lizard (Anolis carolinensis)	Reptilia	-- Q9PUB3_ANOCA⁶	Beta-actin Fragment	85(a) 100(a)	possible ortholog 1 ↔ 1	GL343721.1(263114-263356) 2(98722875-98724624)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BC064155.1²	--	82.68(n)		BC064155.1
zebrafish (Danio rerio)	Actinopterygii	zgc:86725¹	zgc:86725	80.93(n) 92.78(a)		415164 NM_001002074.1 NP_001002074.1
fruit fly (Drosophila melanogaster)	Insecta	Act5C³ Act87E¹	cytoskeleton organization and biogenesis structural more³ Actin 87E¹	98(a) (best of 7)³ 85.2(n)¹ 95.45(a)¹		5C7³ 48632¹ NM_057743.4¹ NP_477091.1¹
worm (Caenorhabditis elegans)	Secernentea	act-2³ act-5¹	actin³ Protein ACT-5¹	97(a) (best of 5)³ 79.47(n)¹ 93.6(a)¹		V(11079402-11080517)³ 176793¹ NM_067408.3¹ NP_499809.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ACT1¹	Act1p	73.33(n) 89.07(a)		850504 NP_116614.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ACT11⁶ AAc1⁶ (see all 11)	actin 1 (see all 11)	90(a) 89(a) (see all 11)	many ↔ many many ↔ many (see all 11)	3(3857843-3859798) 2(15779174-15781561)
rice (Oryza sativa)	Liliopsida	Os05g0438800¹	hypothetical protein	72.28(n) 87.43(a)		4338914 NM_001062196.1 NP_001055661.1

ENSEMBL Gene Tree for ACTG1 (if available)
TreeFam Gene Tree for ACTG1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ACTG1 gene

ACTG2² ACTA2² ACTRT2² ACTB² ACTR1A² ACTC1² ACTL9² ACTRT1²

ACTL7A² ACTBL2² ACTL7B² ACTR1B² ACTA1² ACTRT3²

18/32 SIMAP similar genes for ACTG1 using alignment to 10 protein entries: ACTG_HUMAN (see all proteins) (see all similar genes):

ACTB PS1TP5BP1 ACTC1 POTEF ACTA2 ACTBL2

POTEE POTEI POTEJ POTEKP ACTG2 ACT

ACTA1 ACTR1A ACTR1B ACTRT3 ACTRT1 ACTR2

ACTG1 for paralogs About GeneDecksing

5/30 Pseudogenes.org Pseudogenes for ACTG1 (see all 30)
PGOHUM00000238830 PGOHUM00000246738 PGOHUM00000246771 PGOHUM00000246896 PGOHUM00000262297

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894547^1,2	C	pathogenic	79477735(-)	`CATCGC/TCCACC`	10	A V	nc-transcript-variantmis¹		0	--	--	--	--
rs28999112^1,2	C	pathogenic	79478104(-)	`GACCAC/TCTTCA`	10	T I	nc-transcript-variantmis¹ ese³		2		NA	4
rs104894546^1,2	C	pathogenic	79478225(-)	`CCAGCC/TTTCCT`	10	P L	mis¹		0	--	--	--	--
rs28999111^1,2	C,	pathogenic	79479026(-)	`CCACAC/TCTTCT`	10	T I	mis¹ ese³		2		NA	4
rs138217269^1,2		--	79476506(+)	`CTTACA/CCCAGG`	3	--	int¹		0	--	--	--	--
rs77084481^1,2	C,	--	79476546(+)	`TTCCAG/CGATTC`	3	--	int¹		4		CSA WA NA EA	360
rs9902614^1,2	C,F,	--	79476550(+)	`AGGATT/ACAGTA`	3	--	int¹		4		WA CSA	124
rs78168017^1,2	F,	--	79476591(+)	`TACACA/GAAGTA`	3	--	int¹		1		WA	118
rs149498823^1,2		--	79476601(+)	`AAAACA/TATCTC`	3	--	int¹		0	--	--	--	--
rs6565589^1,2	C,A,H,	--	79476612(-)	`ACGTGG/TGATAT`	3	--	int¹		13		NA WA CSA EA	376

HapMap Linkage Disequilibrium report for ACTG1 (79476997 - 79490873 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ACTG1
3 CNVs: 73071 5040 5039
Human Gene Mutation Database (HGMD): ACTG1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACTG1 for disorders           About GeneDecksing

OMIM gene information: 102560
OMIM disorders: 604717
UniProtKB/Swiss-Prot: ACTG_HUMAN, P63261

Defects in ACTG1 are the cause of deafness autosomal dominant type 20 (DFNA20) [MIM:604717]; also called

autosomal dominant deafness type 26 (DFNA26). DFNA20 is a form of sensorineural hearing loss. Sensorineural deafness

results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the

brain that receives sound information

Defects in ACTG1 are the cause of Baraitser-Winter syndrome type 2 (BRWS2) [MIM:614583]. A rare developmental

disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular

colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include

postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss

20/51 diseases for ACTG1 (see all 51): About MalaCards

deafness, autosomal dominant 20/26 hearing loss human immunodeficiency virus infectious disease wiskott-aldrich syndrome

usher syndrome type i usher syndrome beta thalassemia kaposi's sarcoma

glomus tumor pneumocystosis pancreatic ductal adenocarcinoma thalassemia

hemangiopericytoma childhood leukemia renal cell carcinoma pulmonary hypertension

shigellosis gigantism rheumatoid arthritis endocarditis

3 diseases from the University of Copenhagen DISEASES database for ACTG1:

Cancer Human immunodeficiency virus infectious disease Vascular disease

6 Novoseek disease relationships for ACTG1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hearing loss sensorineural	22.5	1	18804074 (1)
shock	9.5	6	20479917 (1), 10882332 (1), 15910747 (1), 15989238 (1) (see all 6)
metastasis	0	1	16867268 (1)
tumors	0	2	9731740 (1), 10882332 (1)
carcinoma	0	2	18540438 (1), 16867268 (1)
cancer	0	1	9538132 (1)

Genetic Association Database (GAD): ACTG1
Human Genome Epidemiology (HuGE) Navigator: ACTG1 (1 document)
Tumor Gene Database (TGDB): ACTG1

Export disorders for ACTG1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ACTG1 gene, integrated from 9 sources (see all 273):
(articles sorted by number of sources associating them with ACTG1)

Utopia: connect your pdf to the dynamic
world of online information

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). (PubMed id 14684684)^{1, 2, 3, 9} van Wijk E.... Kremer H. (2003)
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). (PubMed id 13680526)^{1, 2, 4, 9} Zhu M.... Friderici K.H. (2003)
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. (PubMed id 18804074)^{1, 2, 9} Liu P....Liu M. (2008)
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser- Winter syndrome. (PubMed id 22366783)^{1, 2} Riviere J.B....Dobyns W.B. (2012)
In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. (PubMed id 19477959)^{1, 2} MorA-n M....Moreno-Pelayo M.A. (2009)
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. (PubMed id 16773128)^{1, 2} Rendtorff N.D.... Tranebjaerg L. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
Structure, chromosome location, and expression of the human gamma- actin gene: differential evolution, location, and expression of the cytoskeletal beta- and gamma-actin genes. (PubMed id 2837653)^{1, 2} Erba H.P.... Gunning P. (1988)
Gamma-actin: unusual mRNA 3'-untranslated sequence conservation and amino acid substitutions that may be cancer related. (PubMed id 3472224)^{1, 2} Chou C.C.... Salser W.A. (1987)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 71	HGNC: 144	AceView: ACTG1	Ensembl:ENSG00000184009	euGenes: HUgn71
ECgene: ACTG1	Kegg: 71	H-InvDB: ACTG1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACTG1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for ACTG1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for ACTG1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACTG1 gene:
Search GeneIP for patents involving ACTG1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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