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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	70
Gene name	Actin alpha cardiac muscle 1
Gene symbol	ACTC1
Synonyms (NCBI Gene)	ACTCASD5CMD1RCMH11LVNC4
Chromosome	15
Chromosome location	15q14
Summary	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

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Transcription factor	Regulation	Reference
YY1	Repression	9171244

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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

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

	KEGG		Reactome
	Cardiac muscle contraction Adrenergic signaling in cardiomyocytes Motor proteins Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Dilated cardiomyopathy		Striated Muscle Contraction

2266

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis	Likely pathogenic	rs2504175858	RCV003984877
Atrial septal defect 5	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs2504180886, rs2504177349, rs121912675, rs121912677, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV002846466 RCV003807506 RCV001380614 RCV000019992 RCV001040562 RCV000684792 RCV000808186 RCV001216367
Cardiomyopathy	Pathogenic; Likely pathogenic	rs193922680, rs1566967399	RCV000769471 RCV000770514
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs727504308, rs193922680, rs1566967399	RCV005791821 RCV002433462 RCV002386332
Dilated cardiomyopathy 1R	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs2504180886, rs2504177349, rs121912675, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV002846466 RCV003807506 RCV001380614 RCV001040562 RCV000684792 RCV000808186 RCV001216367
Hypertrophic cardiomyopathy	Pathogenic; Likely pathogenic	rs193922680, rs397517073	RCV000844601 RCV006445478
Hypertrophic cardiomyopathy 11	Likely pathogenic; Pathogenic	rs2140432240, rs727504308, rs730880388, rs2504180886, rs2504177349, rs121912675, rs267606629, rs193922680, rs397517073, rs1566967399	RCV001961500 RCV001857531 RCV001843486 RCV002846466 RCV003807506 RCV000019990 RCV000019994 RCV000019996 RCV000808186 RCV001216367
Left ventricular noncompaction 4	Pathogenic	rs193922680	RCV000019997
Primary dilated cardiomyopathy	Likely pathogenic	rs727504379, rs397517065	RCV000154537 RCV000038333
Primary familial hypertrophic cardiomyopathy	Pathogenic	rs193922680	RCV000029295

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ACTC1-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs59431308, rs866147243, rs774767260, rs2140430949, rs1891718996, rs1341945129, rs2140430845, rs560065427, rs750131288, rs768363857, rs1555418793, rs561081869, rs564151494, rs142839840, rs140261885 View all (6 more)	RCV003933388 RCV003926301 RCV003418469 RCV003937780 RCV003396932 RCV003392862 RCV003909146 RCV003969384 RCV003972345 RCV003972346 RCV003910188 RCV004752847 RCV003970104 RCV003392343 RCV004752952 RCV003965297 RCV003411468 RCV003914946 RCV004752734 RCV003396431 RCV003978071 RCV003963060 RCV003973127 RCV003963111 RCV003396791 RCV004731098 RCV003918767
Atrial septal defect	Uncertain significance; Conflicting classifications of pathogenicity	rs560065427, rs886051065, rs886051069, rs886051072, rs886051086, rs59431308, rs886051096, rs886051099, rs886051064, rs886051066, rs759530643, rs766542832, rs886051076, rs886051089, rs774238821 View all (21 more)	RCV000331314 RCV000378334 RCV000282480 RCV000318608 RCV000352610 RCV000383960 RCV000346919 RCV000343837 RCV000282007 RCV000351434 RCV000382283 RCV000324064 RCV000323083 RCV000286396 RCV000262671 RCV000356365 RCV000347484 RCV000295427 RCV000302751 RCV000393389 RCV000397950 RCV000364036 RCV000315593 RCV000330984 RCV000383223 RCV000393588 RCV000393573 RCV000297942 RCV000310164 RCV000406611 RCV000308227 RCV000296547 RCV000406433 RCV000260753 RCV000266940 RCV000360169 RCV000271376 RCV000358542 RCV000318847
Colorectal cancer	Likely benign	rs144819872	RCV005908922
Dilated cardiomyopathy 1A	Uncertain significance	rs869025354, rs1891726522	RCV001256786 RCV001256785
Dilated Cardiomyopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs560065427, rs886051065, rs886051069, rs886051072, rs886051086, rs59431308, rs886051096, rs886051099, rs886051064, rs886051066, rs759530643, rs766542832, rs886051076, rs886051089, rs774238821 View all (22 more)	RCV000370732 RCV000285140 RCV000374629 RCV000315335 RCV000314192 RCV000330574 RCV000406950 RCV000347122 RCV000372921 RCV000405338 RCV000351764 RCV000266860 RCV000376596 RCV000365614 RCV000266301 RCV000302922 RCV000311286 RCV000334420 RCV000373558 RCV000393383 RCV000265634 RCV000353714 RCV000304653 RCV000374979 RCV000295915 RCV000379885 RCV000285398 RCV000403677 RCV000362070 RCV000359063 RCV000312101 RCV000343165 RCV000290795 RCV000279069 RCV000277520 RCV000302676 RCV000337845 RCV000267850 RCV000267389 RCV000373465
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2504185412	RCV004558097
Familial restrictive cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs560065427, rs886051065, rs886051069, rs886051072, rs886051086, rs59431308, rs886051096, rs886051099, rs886051064, rs886051066, rs759530643, rs766542832, rs886051076, rs886051089, rs774238821 View all (21 more)	RCV000325370 RCV000323758 RCV000335230 RCV000367725 RCV000299138 RCV000323142 RCV000310723 RCV000383005 RCV000278331 RCV000397143 RCV000272570 RCV000357827 RCV000286837 RCV000308575 RCV000320086 RCV000404767 RCV000296187 RCV000279500 RCV000285209 RCV000307395 RCV000299475 RCV000358212 RCV000280485 RCV000334492 RCV000325108 RCV000337087 RCV000351113 RCV000261459 RCV000364778 RCV000355267 RCV000403338 RCV000331829 RCV000351696 RCV000313962 RCV000359293 RCV000280418 RCV000382151 RCV000263836 RCV000260182
Hypertrophic cardiomyopathy 2	Benign; Likely benign	rs59431308	RCV004596423
Left ventricular dilatation	Uncertain significance	rs1373760624	RCV000678695
Left ventricular noncompaction	Conflicting classifications of pathogenicity	rs397517071	RCV000038340
Left ventricular noncompaction 1	Uncertain significance	rs142839840	RCV003483691
Left ventricular noncompaction cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs869025353, rs560065427, rs886051065, rs886051069, rs886051072, rs886051086, rs59431308, rs886051096, rs886051099, rs886051064, rs886051066, rs759530643, rs766542832, rs886051076, rs886051089 View all (22 more)	RCV000208267 RCV000385795 RCV000348105 RCV000331576 RCV000357064 RCV000402444 RCV000288512 RCV000406944 RCV000292218 RCV000342814 RCV000311907 RCV000325314 RCV000297313 RCV000287929 RCV000343833 RCV000354972 RCV000264159 RCV000351039 RCV000350305 RCV000402562 RCV000364358 RCV000298793 RCV000303315 RCV000387810 RCV000406943 RCV000288762 RCV000282010 RCV000311350 RCV000356226 RCV000270286 RCV000398019 RCV000344413 RCV000386388 RCV000408015 RCV000354798 RCV000263874 RCV000303112 RCV000349123 RCV000361541 RCV000386602
See cases	Uncertain significance	rs770397773	RCV001267830
Wolff-Parkinson-White pattern	Uncertain significance; no classifications from unflagged records	rs1555418685, rs1555418832	RCV000656155 RCV000656203

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)