help  | about  | cite  | software

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:
  • OTTHUMG00000171386,
  • BDPLT15,
  • HGNC:163,
  • M95178,
  • ACTN1,
  • uc001xkl.4,
  • NM_001102
  • identifiers:
  • 87,
  • ENSG00000072110,
  • ACTN1

Genome feature

Region: gene ? Length: 105244  
Location: 14:68874123-68979366 reverse strand Cyto location: 14q24.1|14q22-q24


Paste the following link
Lists
This Gene is in one list:
PL_BHF_UCL_cardiovascGenes (4103)

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

20 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

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

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

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

20 Homologues

0 Located Features

97 Rna Seq Results





Funding: InterMine has been developed principally through support of the Wellcome Trust. Complementary projects have been funded by the NIH/NHGRI and the BBSRC.

An ELIXIR-UK resource

© 2002 - 2019 Department of Genetics, University of Cambridge, Downing Street,
Cambridge CB2 3EH, United Kingdom