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Gene : ACTC1 Homo sapiens

Name  ? actin alpha cardiac muscle 1 Cytological Location  15q14
Brief Description  actin alpha cardiac muscle 1
Description  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 protein encoded by this gene belongs to the actin family which is comprised of three main groups of actin isoforms, alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. Defects in this gene have been associated with idiopathic dilated cardiomyopathy (IDC) and familial hypertrophic cardiomyopathy (FHC). [provided by RefSeq, Jul 2008]
  • synonyms:
  • ACTC,
  • NM_005159,
  • actin, alpha, cardiac muscle,
  • CMD1R,
  • CMH11,
  • ACTC,
  • BC009978,
  • CMD1R,
  • HGNC:143,
  • LVNC4,
  • ACTC1,
  • OTTHUMG00000129675,
  • uc001ziu.2,
  • ASD5
  • identifiers:
  • 70,
  • ENSG00000159251,
  • ACTC1

Genome feature

Region: gene ? Length: 5320  
Location: 15:34790230-34795549 reverse strand Cyto location: 15q14


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

283 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results