Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	70
Gene name Gene Name - the full gene name approved by the HGNC.	Actin alpha cardiac muscle 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACTC1
Synonyms (NCBI Gene) Gene synonyms aliases	ACTC, ASD5, CMD1R, CMH11, LVNC4
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q14
Summary Summary of gene provided in NCBI Entrez Gene.	Actins are highly conserved proteins that are involved in various types of cell motility. 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 four others. The prot

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023839	hsa-miR-1-3p	Proteomics	18668040
MIRT731629	hsa-miR-139-5p	Luciferase reporter assay	27139165
MIRT731629	hsa-miR-139-5p	Luciferase reporter assay	27139165
MIRT763851	hsa-miR-1303	CLIP-seq
MIRT763852	hsa-miR-137	CLIP-seq
MIRT763853	hsa-miR-190	CLIP-seq
MIRT763854	hsa-miR-190b	CLIP-seq
MIRT763855	hsa-miR-25	CLIP-seq
MIRT763856	hsa-miR-3133	CLIP-seq
MIRT763857	hsa-miR-3168	CLIP-seq
MIRT763858	hsa-miR-32	CLIP-seq
MIRT763859	hsa-miR-34b	CLIP-seq
MIRT763860	hsa-miR-363	CLIP-seq
MIRT763861	hsa-miR-367	CLIP-seq
MIRT763862	hsa-miR-3688-3p	CLIP-seq
MIRT763863	hsa-miR-3978	CLIP-seq
MIRT763864	hsa-miR-4263	CLIP-seq
MIRT763865	hsa-miR-4307	CLIP-seq
MIRT763866	hsa-miR-4325	CLIP-seq
MIRT763867	hsa-miR-450b-5p	CLIP-seq
MIRT763868	hsa-miR-4536	CLIP-seq
MIRT763869	hsa-miR-4539	CLIP-seq
MIRT763870	hsa-miR-4699-5p	CLIP-seq
MIRT763871	hsa-miR-4724-5p	CLIP-seq
MIRT763872	hsa-miR-514	CLIP-seq
MIRT763873	hsa-miR-514b-3p	CLIP-seq
MIRT763874	hsa-miR-548b-3p	CLIP-seq
MIRT763875	hsa-miR-568	CLIP-seq
MIRT763876	hsa-miR-576-5p	CLIP-seq
MIRT763877	hsa-miR-877	CLIP-seq
MIRT763878	hsa-miR-92a	CLIP-seq
MIRT763879	hsa-miR-92b	CLIP-seq
MIRT763880	hsa-miR-935	CLIP-seq
MIRT1925123	hsa-miR-1290	CLIP-seq
MIRT763855	hsa-miR-25	CLIP-seq
MIRT1925124	hsa-miR-3130-3p	CLIP-seq
MIRT1925125	hsa-miR-3167	CLIP-seq
MIRT1925126	hsa-miR-3194-3p	CLIP-seq
MIRT763858	hsa-miR-32	CLIP-seq
MIRT763860	hsa-miR-363	CLIP-seq
MIRT763861	hsa-miR-367	CLIP-seq
MIRT763864	hsa-miR-4263	CLIP-seq
MIRT1925127	hsa-miR-4282	CLIP-seq
MIRT1925128	hsa-miR-4760-3p	CLIP-seq
MIRT1925129	hsa-miR-4793-3p	CLIP-seq
MIRT1925130	hsa-miR-4799-5p	CLIP-seq
MIRT763876	hsa-miR-576-5p	CLIP-seq
MIRT1925131	hsa-miR-876-5p	CLIP-seq
MIRT763878	hsa-miR-92a	CLIP-seq
MIRT763879	hsa-miR-92b	CLIP-seq
MIRT2166637	hsa-miR-1229	CLIP-seq
MIRT2166638	hsa-miR-767-3p	CLIP-seq
MIRT2166639	hsa-miR-942	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
YY1	Repression	9171244

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	16611632, 17765196
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	30021884, 33961781
GO:0005524	Function	ATP binding	IDA	16611632
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005737	Component	Cytoplasm	IDA	20962418
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005884	Component	Actin filament	IDA	16611632, 19799913
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007015	Process	Actin filament organization	IBA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0015629	Component	Actin cytoskeleton	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016787	Function	Hydrolase activity	IEA
GO:0017022	Function	Myosin binding	IBA
GO:0017022	Function	Myosin binding	IDA	19799913
GO:0017022	Function	Myosin binding	IPI	16611632
GO:0030017	Component	Sarcomere	IBA
GO:0030017	Component	Sarcomere	IDA	16288873
GO:0030027	Component	Lamellipodium	ISS
GO:0030048	Process	Actin filament-based movement	IDA	16611632
GO:0030175	Component	Filopodium	ISS
GO:0030240	Process	Skeletal muscle thin filament assembly	IEA
GO:0030240	Process	Skeletal muscle thin filament assembly	ISS
GO:0031032	Process	Actomyosin structure organization	IEA
GO:0031032	Process	Actomyosin structure organization	ISS
GO:0031674	Component	I band	IEA
GO:0031674	Component	I band	ISS
GO:0033275	Process	Actin-myosin filament sliding	IBA
GO:0033275	Process	Actin-myosin filament sliding	IMP	19799913
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044297	Component	Cell body	ISS
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0060047	Process	Heart contraction	IBA
GO:0060047	Process	Heart contraction	IMP	9563954, 17611253, 17947298
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060327	Process	Cytoplasmic actin-based contraction involved in cell motility	IEA
GO:0070062	Component	Extracellular exosome	HDA	21362503, 23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090131	Process	Mesenchyme migration	ISS
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
102540	143	ENSG00000159251

Protein

UniProt ID

P68032

Protein name

Actin, alpha cardiac muscle 1 (EC 3.6.4.-) (Alpha-cardiac actin) [Cleaved into: Actin, alpha cardiac muscle 1, intermediate form]

Protein function

Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.

PDB

8GSU , 8GSW , 8GT1 , 8GT2 , 8GT3 , 8GT4 , 8GT5 , 8ZB7 , 8ZI9 , 8ZJ1 , 9B3Q , 9B3R

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00022	Actin	4 → 377	Actin	Family

Sequence

MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEA
QSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREK
MTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRL
DLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK
SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWIS
KQEYDEAGPSIVHRKCF

Sequence length

377

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Atrial Septal Defect	atrial septal defect 5	rs121912677, rs387906585	N/A
cardiomyopathy	Cardiomyopathy	rs193922680, rs1566967399	N/A
Cardiomyopathy	Primary dilated cardiomyopathy	rs397517065, rs727504379	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 11, Primary familial hypertrophic cardiomyopathy	rs193922680, rs730880388, rs121912675, rs267606629	N/A
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	rs1555418832	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dilated Cardiomyopathy	Dilated Cardiomyopathy, Dominant, Dilated cardiomyopathy 1R	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy 1R, dilated cardiomyopathy	N/A	N/A	GenCC
Restrictive cardiomyopathy	Familial restrictive cardiomyopathy	N/A	N/A	ClinVar
Ventricular Cardiomyopathy	arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	GenCC

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arrhythmogenic Right Ventricular Dysplasia	Associate	33947203
Arthrogryposis multiplex congenita distal type 1	Associate	37457373
Breast Neoplasms	Associate	29512753
Carcinoma Non Small Cell Lung	Associate	35763629
Cardiomyopathies	Associate	22194935, 27834932, 35544052, 35893073
Cardiomyopathy Dilated	Associate	23570452, 24367596, 26458567, 29440008, 31983221, 34011823, 37457373
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	29440008
Cardiomyopathy Hypertrophic	Associate	25342278, 29440008, 30392975, 30600190, 30681346, 33947203, 37457373, 37466024, 39340495
Cardiomyopathy Hypertrophic Familial	Associate	29440008
Chagas Cardiomyopathy	Associate	24367596
Chanarin Dorfman Syndrome	Associate	36011517
Chronic Disease	Associate	24367596
Heart Defects Congenital	Associate	37457373
Heart Diseases	Associate	29440008
Heart Septal Defects	Associate	36011517
Heart Septal Defects Atrial	Associate	27139165, 37457373
Heart Septal Defects Ventricular	Associate	30897084
Hypertrophy Left Ventricular	Associate	30681346
Infections	Associate	24367596
Inflammation	Associate	32986378
Kidney Failure Chronic	Associate	24367596
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	37457373
Prader Willi Syndrome	Associate	33678338
Prostatic Neoplasms	Associate	20441232
Pulmonary Disease Chronic Obstructive	Associate	30111857
Rhabdomyosarcoma	Associate	34285060
Septate Uterus	Associate	36011517
Spinal Cord Injuries	Associate	27160807
Tetralogy of Fallot	Associate	27125413
Tuberculosis Multidrug Resistant	Associate	29512753
Urinary Bladder Neoplasms	Associate	21483740, 32233022, 36131343, 36245371

ACTC1 (actin alpha cardiac muscle 1)