Reviewed, UniProtKB/Swiss-Prot P68032 (ACTC_HUMAN)

Names and origin

Protein names

Recommended name:
    Actin, alpha cardiac muscle 1
Alternative name(s):
    Alpha-cardiac actin

Gene names

Name:	ACTC1
Synonyms:	ACTC

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	377 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
Subunit structure	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.
Involvement in disease	Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Ref.4 Defects in ACTC1 are the cause of cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Ref.5 Ref.6 Ref.7 Ref.9 Defects in ACTC1 are the cause of atrial septal defect type 5 (ASD5) [MIM:612794]. A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
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.
Sequence similarities	Belongs to the actin family.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Disease	Atrial septal defect Cardiomyopathy Disease mutation
Ligand	ATP-binding Nucleotide-binding
Molecular function	Muscle protein
PTM	Acetylation Methylation
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	actin filament-based movement Inferred from direct assay. Source: UniProtKB apoptosis Inferred from sequence or structural similarity. Source: UniProtKB cardiac muscle tissue morphogenesis Inferred from sequence or structural similarity. Source: UniProtKB cardiac myofibril assembly Inferred from sequence or structural similarity. Source: UniProtKB muscle thin filament assembly Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	I band Inferred from sequence or structural similarity. Source: UniProtKB actomyosin, actin part Inferred from direct assay. Source: UniProtKB
Molecular function	ATP binding Inferred from direct assay. Source: UniProtKB ATPase activity Inferred from direct assay. Source: UniProtKB myosin binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Propeptide	1 – 2	2	Removed in mature form By similarity		PRO_0000000812
	Chain	3 – 377	375	Actin, alpha cardiac muscle 1		PRO_0000000813
Amino acid modifications
	Modified residue	3	1	N-acetylaspartate By similarity
	Modified residue	75	1	Tele-methylhistidine By similarity
Natural variations
	Natural variant	90	1	H → Y in CMH11. Ref.9		VAR_045924
	Natural variant	97	1	R → C in CMH11. Ref.9		VAR_045925
	Natural variant	101	1	E → K in CMH11. Ref.6		VAR_012857
	Natural variant	125	1	M → V in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function.		VAR_046502
	Natural variant	166	1	P → A in CMH11. Ref.6		VAR_012858
	Natural variant	168	1	Y → C in CMH11. Ref.7		VAR_046503
	Natural variant	297	1	A → S in CMH11. Ref.5		VAR_012859
	Natural variant	307	1	M → L in CMH11. Ref.7		VAR_046504
	Natural variant	314	1	R → H in CMD1R. Ref.4		VAR_012860
	Natural variant	333	1	A → P in CMH11. Ref.6		VAR_012861
	Natural variant	363	1	E → G in CMD1R. Ref.4		VAR_012862

Sequences

	Sequence		Length	Mass (Da)
	P68032-1 [UniParc]. Last modified March 20, 1987. Version 1. Checksum: E5C10FA19730CAD2	FASTA	377	42,019
	10 20 30 40 50 60 MCDDEETTAL VCDNGSGLVK AGFAGDDAPR AVFPSIVGRP RHQGVMVGMG QKDSYVGDEA 70 80 90 100 110 120 QSKRGILTLK YPIEHGIITN WDDMEKIWHH TFYNELRVAP EEHPTLLTEA PLNPKANREK 130 140 150 160 170 180 MTQIMFETFN VPAMYVAIQA VLSLYASGRT TGIVLDSGDG VTHNVPIYEG YALPHAIMRL 190 200 210 220 230 240 DLAGRDLTDY LMKILTERGY SFVTTAEREI VRDIKEKLCY VALDFENEMA TAASSSSLEK 250 260 270 280 290 300 SYELPDGQVI TIGNERFRCP ETLFQPSFIG MESAGIHETT YNSIMKCDID IRKDLYANNV 310 320 330 340 350 360 LSGGTTMYPG IADRMQKEIT ALAPSTMKIK IIAPPERKYS VWIGGSILAS LSTFQQMWIS 370 KQEYDEAGPS IVHRKCF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular structure and evolutionary origin of human cardiac muscle actin gene." Hamada H., Petrino M.G., Kakunaga T. Proc. Natl. Acad. Sci. U.S.A. 79:5901-5905(1982) [PubMed: 6310553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Muscle.
[4]	"Actin mutations in dilated cardiomyopathy, a heritable form of heart failure." Olson T.M., Michels V.V., Thibodeau S.N., Tai Y.-S., Keating M.T. Science 280:750-752(1998) [PubMed: 9563954] [Abstract] Cited for: VARIANTS CMD1R HIS-314 AND GLY-363.
[5]	"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy." Mogensen J., Klausen I.C., Pedersen A.K., Egeblad H., Bross P., Kruse T.A., Gregersen N., Hansen P.S., Baandrup U., Boerglum A.D. J. Clin. Invest. 103:R39-R43(1999) [PubMed: 10330430] [Abstract] Cited for: VARIANT CMH11 SER-297.
[6]	"Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy." Olson T.M., Doan T.P., Kishimoto N.Y., Whitby F.G., Ackerman M.J., Fananapazir L. J. Mol. Cell. Cardiol. 32:1687-1694(2000) [PubMed: 10966831] [Abstract] Cited for: VARIANTS CMH11 LYS-101; ALA-166 AND PRO-333.
[7]	"Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy." Mogensen J., Perrot A., Andersen P.S., Havndrup O., Klausen I.C., Christiansen M., Bross P., Egeblad H., Bundgaard H., Osterziel K.J., Haltern G., Lapp H., Reinecke P., Gregersen N., Borglum A.D. J. Med. Genet. 41:E10-E10(2004) [PubMed: 14729850] [Abstract] Cited for: VARIANTS CMH11 CYS-168 AND LEU-307.
[8]	"Alpha-cardiac actin mutations produce atrial septal defects." Matsson H., Eason J., Bookwalter C.S., Klar J., Gustavsson P., Sunnegardh J., Enell H., Jonzon A., Vikkula M., Gutierrez I., Granados-Riveron J., Pope M., Bu'Lock F., Cox J., Robinson T.E., Song F., Brook D.J., Marston S., Trybus K.M., Dahl N. Hum. Mol. Genet. 17:256-265(2008) [PubMed: 17947298] [Abstract] Cited for: VARIANT ASD5 VAL-125, CHARACTERIZATION OF VARIANT ASD5 VAL-125.
[9]	"Shared genetic causes of cardiac hypertrophy in children and adults." Morita H., Rehm H.L., Menesses A., McDonough B., Roberts A.E., Kucherlapati R., Towbin J.A., Seidman J.G., Seidman C.E. N. Engl. J. Med. 358:1899-1908(2008) [PubMed: 18403758] [Abstract] Cited for: VARIANTS CMH11 TYR-90 AND CYS-97.
+	Additional computationally mapped references.

Web resources

Familial hypertrophic cardiomyopathy mutation database

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	J00073 , J00070, J00071, J00072 Genomic DNA. Translation: AAB59619.1. CR541795 mRNA. Translation: CAG46594.1. BC009978 mRNA. Translation: AAH09978.1.
IPI	IPI00023006.
PIR	ATHUC. A02998.
RefSeq	NP_005150.1.
UniGene	Hs.118127
3D structure databases
SMR	P68032. Positions 6-377.
ModBase	Search...
Protein-protein interaction databases
IntAct	P68032. 4 interactions.
STRING	P68032.
PTM databases
PhosphoSite	P68032.
2-D gel databases
REPRODUCTION-2DPAGE	P68032.
Proteomic databases
PRIDE	P68032.
Genome annotation databases
Ensembl	ENST00000290378; ENSP00000290378; ENSG00000159251; Homo sapiens. [Genome view]
GeneID	70.
KEGG	hsa:70.
UCSC	uc001ziu.1. human.
Organism-specific databases
CTD	70.
GeneCards	GC15M032870.
H-InvDB	HIX0012097.
HGNC	HGNC:143. ACTC1.
MIM	102540. gene+phenotype. 612098. phenotype. 612794. phenotype.
Orphanet	154. Cardiomyopathy, familial dilated. 155. Cardiomyopathy, hypertrophic, primary or idiopathic. 1478. Interauricular communication.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18996.
HOGENOM	HBG559892.
HOVERGEN	P68032.
InParanoid	P68032.
OMA	MMGSANK.
PhylomeDB	P68032.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P68032.
Bgee	P68032.
CleanEx	HS_ACTC1.
Genevestigator	P68032.
GermOnline	ENSG00000159251. Homo sapiens.
Family and domain databases
InterPro	IPR004000. Actin-like. IPR020902. Actin/actin-like_CS. IPR004001. Actin_CS. [Graphical view]
PANTHER	PTHR11937. Actin_like. 1 hit.
Pfam	PF00022. Actin. 1 hit. [Graphical view]
PRINTS	PR00190. ACTIN.
SMART	SM00268. ACTIN. 1 hit. [Graphical view]
PROSITE	PS00406. ACTINS_1. 1 hit. PS00432. ACTINS_2. 1 hit. PS01132. ACTINS_ACT_LIKE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	275.
SOURCE	Search...

Entry information

Entry name

ACTC_HUMAN

Accession

Primary (citable) accession number: P68032
Secondary accession number(s): P04270

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 20, 1987
Last sequence update:	March 20, 1987
Last modified:	February 9, 2010
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.