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Gene : ACTN1 Homo sapiens
Name  ? actinin alpha 1 Cytological Location  14q24.1|14q22-q24
Brief Description  actinin alpha 1
Description  Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ACTN1,
  • OTTHUMG00000171386,
  • HGNC:163,
  • BDPLT15,
  • NM_001102,
  • M95178,
  • uc001xkl.4
  • identifiers:
  • 87,
  • ENSG00000072110,
  • ACTN1

Genome feature

Region: gene ? Length: 105180  
Location: 14:68874123-68979302 reverse strand Cyto location: 14q24.1|14q22-q24


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Lists
This Gene is in one list:
PL_BHF_UCL_cardiovascGenes (4103)

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Function

Gene Ontology Displayer

20 Pathways

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

1 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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

20 Pathways

543 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results





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