• Gene id: 70

Gene Summary

• Gene Symbol: ACTC1   Gene   UCSC   Ensembl
• Aliases: ACTC, ASD5, CMD1R, CMH11, LVNC4
• Gene name: actin alpha cardiac muscle 1
• Alternate names: actin, alpha cardiac muscle 1,
• Gene location: 15q14 (34795548: 34790229)     Exons: 7     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 102540

SNPs

rs397515563

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34517468G>A
NC_000009.11   g.34517466G>A
NG_008127.1   g.63656G>A|SEQ=[G/A]|GENE=DNAI1

rs397515363

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.34459055dup
NC_000009.11   g.34459053dup
NG_008127.1   g.5243dup
NG_027971.1   g.4516dup|SEQ=[T/TT]|GENE=DNAI1
FAM219A   203259

rs397515358

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.74286974T>G
NC_000017.10   g.72283113T>G
NG_016865.1   g.17728T>G|SEQ=[T/G]|GENE=DNAI2

rs376252276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.34513112G>A
NC_000009.12   g.34513112G>C
NC_000009.12   g.34513112G>T
NC_000009.11   g.34513110G>A
NC_000009.11   g.34513110G>C
NC_000009.11   g.34513110G>T
NG_008127.1   g.59300G>A
NG_008127.1   g.59300G>C
NG_008127.1   g.59300G>T
NM_012144.4   c.1490G

rs200693106

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21702773C>A
NC_000007.14   g.21702773C>T
NC_000007.13   g.21742391C>A
NC_000007.13   g.21742391C>T
NG_012886.2   g.164559C>A
NG_012886.2   g.164559C>T
NM_001277115.2   c.6244C>A
NM_001277115.2   c.6244C>T
NM_001277115.1   c.6244C>A
NM_001277115.1   c.62

rs121908855

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21880869C>G
NC_000007.13   g.21920487C>G
NG_012886.2   g.342655C>G
NM_001277115.2   c.12363C>G
NM_001277115.1   c.12363C>G
NP_001264044.1   p.Tyr4121Ter|SEQ=[C/G]|GENE=DNAH11

rs121908854

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.21748602C>A
NC_000007.14   g.21748602C>G
NC_000007.14   g.21748602C>T
NC_000007.13   g.21788220C>A
NC_000007.13   g.21788220C>G
NC_000007.13   g.21788220C>T
NG_012886.2   g.210388C>A
NG_012886.2   g.210388C>G
NG_012886.2   g.210388C>T
NM_001277115.2   c

rs12082710

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91689780T>A
NC_000001.11   g.91689780T>C
NC_000001.10   g.92155337T>A
NC_000001.10   g.92155337T>C
NG_027757.1   g.221223A>T
NG_027757.1   g.221223A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs9900972

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.78872532A>G
NC_000017.11   g.78872532A>T
NC_000017.10   g.76868614A>G
NC_000017.10   g.76868614A>T|SEQ=[A/G/T]|GENE=TIMP2

rs8080623

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.78926196G>A
NC_000017.10   g.76922278G>A|SEQ=[G/A]|GENE=TIMP2

rs7867029

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

rs7156586

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs3917158

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75978126T>A
NC_000014.9   g.75978126T>C
NC_000014.9   g.75978126T>G
NC_000014.8   g.76444469T>A
NC_000014.8   g.76444469T>C
NC_000014.8   g.76444469T>G
NG_011715.1   g.8624A>T
NG_011715.1   g.8624A>G
NG_011715.1   g.8624A>C|SEQ=[T/A/C/G]|GENE=TGFB3

rs3791185

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107058247G>A
NC_000001.10   g.107600869G>A
NM_018137.2   c.*404G>A
NM_018137.3   c.*404G>A|SEQ=[G/A]|GENE=PRMT6

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs2284792

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75977236G>A
NC_000014.9   g.75977236G>C
NC_000014.9   g.75977236G>T
NC_000014.8   g.76443579G>A
NC_000014.8   g.76443579G>C
NC_000014.8   g.76443579G>T
NG_011715.1   g.9514C>T
NG_011715.1   g.9514C>G
NG_011715.1   g.9514C>A|SEQ=[G/A/C/T]|GENE=TGFB3

rs2270641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20180955T>C
NC_000008.11   g.20180955T>G
NC_000008.10   g.20038466T>C
NC_000008.10   g.20038466T>G
NM_003053.4   c.10A>G
NM_003053.4   c.10A>C
NM_003053.3   c.10A>G
NM_003053.3   c.10A>C
NM_001135691.2   c.10A>G
NM_001135691.2   c.10A>C
NM_001142324.1   c

rs2268626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75978424C>G
NC_000014.9   g.75978424C>T
NC_000014.8   g.76444767C>G
NC_000014.8   g.76444767C>T
NG_011715.1   g.8326G>C
NG_011715.1   g.8326G>A|SEQ=[C/G/T]|GENE=TGFB3

rs2268625

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75973291C>G
NC_000014.9   g.75973291C>T
NC_000014.8   g.76439634C>G
NC_000014.8   g.76439634C>T
NG_011715.1   g.13459G>C
NG_011715.1   g.13459G>A|SEQ=[C/G/T]|GENE=TGFB3

rs2232015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107056636A>G
NC_000001.11   g.107056636A>T
NC_000001.10   g.107599258A>G
NC_000001.10   g.107599258A>T|SEQ=[A/G/T]|GENE=PRMT6

rs1713449

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.20373548C>T
NC_000014.8   g.20841707C>T
XM_005268027.5   c.6640G>A
XM_005268027.1   c.6640G>A
NM_007110.5   c.6640G>A
NM_007110.4   c.6640G>A
XR_245720.3   n.6666G>A
XR_245720.1   n.7298G>A
XM_011537110.2   c.5071G>A
XR_001750531.1   n.6828G>A
NM_0013190  

rs1713419

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.20366389A>G
NC_000014.8   g.20834548A>G
XM_005268027.5   c.*2048T>C
NM_007110.5   c.*2048T>C
NM_007110.4   c.*2048T>C
XR_245720.3   n.9958T>C
XM_011537110.2   c.*2048T>C
XR_001750531.1   n.9995T>C
NM_001319035.1   c.*2048T>C
NM_001319035.2   c.*2048T>C|S

rs175080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

rs1127354

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000020.11   g.3213196C>A
NC_000020.11   g.3213196C>G
NC_000020.10   g.3193842C>A
NC_000020.10   g.3193842C>G
NG_012093.2   g.9330C>A
NG_012093.2   g.9330C>G
NM_033453.4   c.94C>A
NM_033453.4   c.94C>G
NM_033453.3   c.94C>A
NM_033453.3   c.94C>G
NM_181493.4   c.43C>A
NM  

rs7099208

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.114894815A>G
NC_000010.10   g.116654574A>G|SEQ=[A/G]|GENE=FAM160B1

rs4938723

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

rs3917187

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75965793T>C
NC_000014.8   g.76432136T>C
NG_011715.1   g.20957A>G|SEQ=[T/C]|GENE=TGFB3

rs2736100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.1286401C>A
NC_000005.9   g.1286516C>A
NG_009265.1   g.13647G>T
NG_055468.1   g.28C>A|SEQ=[C/A]|GENE=TERT

rs1982073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41353016G>A
NC_000019.10   g.41353016G>C
NC_000019.9   g.41858921G>A
NC_000019.9   g.41858921G>C
NG_013364.1   g.5911C>T
NG_013364.1   g.5911C>G
NM_000660.7   c.29C>T
NM_000660.7   c.29C>G
NM_000660.6   c.29C>T
NM_000660.6   c.29C>G
NM_000660.4   c.29C>T
  

rs1800471

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.41352971C>G
NC_000019.10   g.41352971C>T
NC_000019.9   g.41858876C>G
NC_000019.9   g.41858876C>T
NG_013364.1   g.5956G>C
NG_013364.1   g.5956G>A
NM_000660.7   c.74G>C
NM_000660.7   c.74G>A
NM_000660.6   c.74G>C
NM_000660.6   c.74G>A
NM_000660.4   c.74G>C
  

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

rs2291102

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

rs1390938

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.20179202A>G
NC_000008.10   g.20036713A>G
NM_003053.4   c.407T>C
NM_003053.3   c.407T>C
NM_001135691.2   c.407T>C
NM_001142324.1   c.407T>C
NM_001142324.2   c.407T>C
NM_001142325.1   c.407T>C
XM_011544625.1   c.407T>C
XM_011544626.1   c.407T>C
NP_003044.  

rs9661103

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91870349T>A
NC_000001.11   g.91870349T>C
NC_000001.10   g.92335906T>A
NC_000001.10   g.92335906T>C
NG_027757.1   g.40654A>T
NG_027757.1   g.40654A>G|SEQ=[T/A/C]|GENE=TGFBR3

rs17576372

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.91900617T>C
NC_000001.10   g.92366174T>C
NG_027757.1   g.10386A>G|SEQ=[T/C]|GENE=TGFBR3

Protein Summary

• Protein general information: P68032  
  • Name: Actin, alpha cardiac muscle 1 (Alpha cardiac actin) [Cleaved into: Actin, alpha cardiac muscle 1, intermediate form]
  • Length: 377  
  • Mass: 42019
• Sequence:

  MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEH
  GIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRT
  TGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDF
  ENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNV
  LSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRK
  CF

• Structural information:
  • Interpro: IPR004000  IPR020902  IPR004001  
  • Prosite: PS00406 PS00432 PS01132
  • STRING: ENSP00000290378
• Other Databases: GeneCards:  ACTC1  Malacards:  ACTC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007015	actin filament organization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0005884	actin filament	IBA	cellular component
GO:0017022	myosin binding	IBA	molecular function
GO:0030017	sarcomere	IBA	cellular component
GO:0033275	actin-myosin filament sliding	IBA	biological process
GO:0060047	heart contraction	IBA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0090131	mesenchyme migration	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0044297	cell body	ISS	cellular component
GO:0030175	filopodium	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0070252	actin-mediated cell contraction	IEA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IEA	biological process
GO:0055003	cardiac myofibril assembly	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0031674	I band	IEA	cellular component
GO:0031032	actomyosin structure organization	IEA	biological process
GO:0030240	skeletal muscle thin filament assembly	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0017022	myosin binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005884	actin filament	IDA	cellular component
GO:0033275	actin-myosin filament sliding	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030017	sarcomere	IDA	cellular component
GO:0005524	ATP binding	IDA	molecular function
GO:0042643	actomyosin, actin portion	IDA	cellular component
GO:0030048	actin filament-based movement	IDA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0005884	actin filament	IDA	cellular component
GO:0060047	heart contraction	IMP	biological process
GO:0060047	heart contraction	IMP	biological process
GO:0017022	myosin binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0055008	cardiac muscle tissue morphogenesis	ISS	biological process
GO:0055003	cardiac myofibril assembly	ISS	biological process
GO:0031032	actomyosin structure organization	ISS	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0031674	I band	ISS	cellular component
GO:0030240	skeletal muscle thin filament assembly	ISS	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0060047	heart contraction	IMP	biological process
GO:0072562	blood microparticle	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Left ventricular noncompaction	KEGG:H01216
Atrial septal defect	KEGG:H00546
Restrictive cardiomyopathy	KEGG:H01219
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Left ventricular noncompaction	KEGG:H01216
Atrial septal defect	KEGG:H00546
Restrictive cardiomyopathy	KEGG:H01219
Cardiomyopathy	PMID:9563954
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)