ACTN1
Sign in to saveAlso known as BDPLT15, actinin alpha 1
Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.
Gene data
ACTN1- Name
- actinin alpha 1
- Type
- protein-coding
- Position
- 68,874,121–68,980,277 (−)
- Aliases
- BDPLT15
- Ensembl
- ENSG00000072110
- RefSeq RNA
- NM_001102.4, NM_001130004.2, NM_001130005.2, NM_001411035.1, NM_001411036.1
- RefSeq protein
- NP_001093.1, NP_001123476.1, NP_001123477.1, NP_001397964.1, NP_001397965.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
actinin alpha 1
- Symbol
- ACTN1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:68,873,643-68,980,277
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein ACTN1 PDB 1sjj.png
Show 6 more facts
- HomoloGene ID
- 55553
- genomic start
- 69340860
- exact match
- identifiers.org/ncbigene/87
- genomic end
- 69446157
- cytogenetic location
- 14q24.1|14q22-q24
- Commons category
- Actinin alpha 1
Sources (7)
via Wikidata · CC0
~1 min read
Article
6 sectionsContents
- Function
- Interactions
- See also
- References
- Further reading
- External links
Alpha-actinin-1 is a protein that in humans is encoded by the ACTN1 gene.
== Function ==