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XSB2699 : cardiac muscle alpha actin 1 proprotein [Homo sapiens]

[ CaMP Format ]

This entry is computationally expanded from SB0071

* Basic Information

OrganismHomo sapiens (human)
Protein NamesActin, alpha cardiac muscle 1; Alpha-cardiac actin; cardiac muscle alpha actin 1 proprotein
Gene NamesACTC1; ACTC; actin, alpha, cardiac muscle 1
Gene Locus15q11-q14; chromosome 15
GO FunctionNot available
Entrez Protein Entrez Nucleotide Entrez Gene UniProt OMIM HGNC HPRD KEGG
NP_005150 NM_005159 70 ACTC_HUMAN 102540 143 N/A hsa:70

* Information From OMIM

Function: Actin has been identified in many kinds of cells including muscle, where it is a major constituent of the thin filament, and platelets. Muscle actins from sources as diverse as rabbits and fish are very similar in amino acid sequence. Elzinga et al. (1976) examined whether actin in different tissues of the same organism are products of the same gene. They found that human platelet and human cardiac actins differ by one amino acid, viz., threonine and valine, respectively, at position 129. Thus they must be determined by different genes. Actins can be separated by isoelectric focusing into 3 main groups which show more than 90% homology of amino acid sequence. Firtel (1981) referred to the actin of smooth muscle, the most acidic form, as alpha type and the 2 cytoplasmic forms as beta and gamma. Beta and gamma actins are involved in the cytoskeleton and in internal cell mobility phenomena.

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* Structure Information

1. Primary Information

Length: 377 aa

Average Mass: 42.019 kDa

Monoisotopic Mass: 41.992 kDa

2. Domain Information

Annotated Domains: interpro / pfam / smart / prosite

Computationally Assigned Domains (Pfam+HMMER):

domain namebeginendscoree-value
Actin 1. 4377840.21.2e-249
--- cleavage 39 (inside Actin 4..377) ---

3. Sequence Information

Fasta Sequence: XSB2699.fasta

Amino Acid Sequence and Secondary Structures (PsiPred):

4. 3D Information

Not Available.

* Cleavage Information

1 [sites]

Cleavage sites (±10aa)

[Site 1] RAVFPSIVGR39-PRHQGVMVGM

Arg39 Pro

P10 P9 P8 P7 P6 P5 P4 P3 P2 P1
Arg30Ala31Val32Phe33Pro34Ser35Ile36Val37Gly38Arg39
P1' P2' P3' P4' P5' P6' P7' P8' P9' P10'
Pro40Arg41His42Gln43Gly44Val45Met46Val47Gly48Met49

Sequence conservation (by blast)

* References

[PubMed ID: 19293840] Moller DV, Andersen PS, Hedley P, Ersboll MK, Bundgaard H, Moolman-Smook J, Christiansen M, Kober L, The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009 Mar 18.

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