ACTN1 (actinin alpha 1)

2007-07-01  

Identity

HGNC
LOCATION
14q24.1
LOCUSID
ALIAS
BDPLT15
FUSION GENES

Other Information

Locus ID:

NCBI: 87
MIM: 102575
HGNC: 163
Ensembl: ENSG00000072110

Variants:

dbSNP: 87
ClinVar: 87
TCGA: ENSG00000072110
COSMIC: ACTN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072110ENST00000193403P12814
ENSG00000072110ENST00000193403A0A024R694
ENSG00000072110ENST00000376839H9KV75
ENSG00000072110ENST00000394419P12814
ENSG00000072110ENST00000438964P12814
ENSG00000072110ENST00000538545P12814
ENSG00000072110ENST00000544964H7C5W8
ENSG00000072110ENST00000553290H0YJ11
ENSG00000072110ENST00000553370G3V2X9
ENSG00000072110ENST00000553659G3V380
ENSG00000072110ENST00000553779G3V2E8
ENSG00000072110ENST00000555075H0YJW3
ENSG00000072110ENST00000555616G3V2W4
ENSG00000072110ENST00000556433G3V2N5
ENSG00000072110ENST00000556571G3V5M4

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
Adherens junctionKEGGko04520
Tight junctionKEGGko04530
Leukocyte transendothelial migrationKEGGko04670
Regulation of actin cytoskeletonKEGGko04810
Systemic lupus erythematosusKEGGko05322
Focal adhesionKEGGhsa04510
Adherens junctionKEGGhsa04520
Tight junctionKEGGhsa04530
Leukocyte transendothelial migrationKEGGhsa04670
Regulation of actin cytoskeletonKEGGhsa04810
Systemic lupus erythematosusKEGGhsa05322
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Cell-Cell communicationREACTOMER-HSA-1500931
Cell junction organizationREACTOMER-HSA-446728
Cell-extracellular matrix interactionsREACTOMER-HSA-446353
Regulation of cytoskeletal remodeling and cell spreading by IPP complex componentsREACTOMER-HSA-446388
Nephrin interactionsREACTOMER-HSA-373753
Extracellular matrix organizationREACTOMER-HSA-1474244
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
Syndecan interactionsREACTOMER-HSA-3000170

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
161953732005Regulation of sphingosine 1-phosphate-induced endothelial cytoskeletal rearrangement and barrier enhancement by S1P1 receptor, PI3 kinase, Tiam1/Rac1, and alpha-actinin.115
183537642008Alternative splicing in colon, bladder, and prostate cancer identified by exon array analysis.101
266098102015Actin filaments target the oligomeric maturation of the dynamin GTPase Drp1 to mitochondrial fission sites.71
234341152013ACTN1 mutations cause congenital macrothrombocytopenia.53
236646152013Competition between α-actinin and Ca²⁺-calmodulin controls surface retention of the L-type Ca²⁺ channel Ca(V)1.2.44
200376482009Isoform-specific contributions of alpha-actinin to glioma cell mechanobiology.42
201564332010Alpha-actinin 1 and alpha-actinin 4: contrasting roles in the survival, motility, and RhoA signaling of astrocytoma cells.37
157106242005Phosphoinositide binding regulates alpha-actinin dynamics: mechanism for modulating cytoskeletal remodeling.36
231329272013Assembly of non-contractile dorsal stress fibers requires α-actinin-1 and Rac1 in migrating and spreading cells.33
128377582003The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin.31

Citation

Dessen P

ACTN1 (actinin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47580/actn1