ACTN1 (actinin alpha 1)

2007-07-01 Affiliation

Identity

HGNC

ACTN1

LOCATION

14q24.1

LOCUSID

ALIAS

BDPLT15

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000072110	ENST00000193403	P12814
ENSG00000072110	ENST00000193403	A0A024R694
ENSG00000072110	ENST00000376839	H9KV75
ENSG00000072110	ENST00000394419	P12814
ENSG00000072110	ENST00000438964	P12814
ENSG00000072110	ENST00000538545	P12814
ENSG00000072110	ENST00000544964	H7C5W8
ENSG00000072110	ENST00000553290	H0YJ11
ENSG00000072110	ENST00000553370	G3V2X9
ENSG00000072110	ENST00000553659	G3V380
ENSG00000072110	ENST00000553779	G3V2E8
ENSG00000072110	ENST00000555075	H0YJW3
ENSG00000072110	ENST00000555616	G3V2W4
ENSG00000072110	ENST00000556433	G3V2N5
ENSG00000072110	ENST00000556571	G3V5M4

Expression (GTEx)

100

200

300

400

500

600

700

800

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Focal adhesion	KEGG	ko04510
Adherens junction	KEGG	ko04520
Tight junction	KEGG	ko04530
Leukocyte transendothelial migration	KEGG	ko04670
Regulation of actin cytoskeleton	KEGG	ko04810
Systemic lupus erythematosus	KEGG	ko05322
Focal adhesion	KEGG	hsa04510
Adherens junction	KEGG	hsa04520
Tight junction	KEGG	hsa04530
Leukocyte transendothelial migration	KEGG	hsa04670
Regulation of actin cytoskeleton	KEGG	hsa04810
Systemic lupus erythematosus	KEGG	hsa05322
Amoebiasis	KEGG	ko05146
Amoebiasis	KEGG	hsa05146
Viral carcinogenesis	KEGG	hsa05203
Viral carcinogenesis	KEGG	ko05203
Hemostasis	REACTOME	R-HSA-109582
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
Response to elevated platelet cytosolic Ca2+	REACTOME	R-HSA-76005
Platelet degranulation	REACTOME	R-HSA-114608
Cell-Cell communication	REACTOME	R-HSA-1500931
Cell junction organization	REACTOME	R-HSA-446728
Cell-extracellular matrix interactions	REACTOME	R-HSA-446353
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components	REACTOME	R-HSA-446388
Nephrin interactions	REACTOME	R-HSA-373753
Extracellular matrix organization	REACTOME	R-HSA-1474244
Non-integrin membrane-ECM interactions	REACTOME	R-HSA-3000171
Syndecan interactions	REACTOME	R-HSA-3000170

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33413564	2021	ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma.	25
34010028	2021	Distinct forms of the actin cross-linking protein α-actinin support macropinosome internalization and trafficking.	1
34380038	2021	Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2.	9
34546849	2021	α-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3β/β-Catenin pathway.	10
34642716	2021	Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests.	0
33413564	2021	ACTN1 supports tumor growth by inhibiting Hippo signaling in hepatocellular carcinoma.	25
34010028	2021	Distinct forms of the actin cross-linking protein α-actinin support macropinosome internalization and trafficking.	1
34380038	2021	Actinin BioID reveals sarcomere crosstalk with oxidative metabolism through interactions with IGF2BP2.	9
34546849	2021	α-Actinin1 promotes tumorigenesis and epithelial-mesenchymal transition of gastric cancer via the AKT/GSK3β/β-Catenin pathway.	10
34642716	2021	Enhancement of cardiac contractility using gold-coated SU-8 cantilevers and their application to drug-induced cardiac toxicity tests.	0
31365757	2020	Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia.	1
31889512	2020	Actin-Bundling Proteins (Actinin-4 and Fascin-1) are Involved in the Development of Pancreatic Intraepithelial Neoplasia (PanIN).	7
32440097	2020	High ACTN1 Is Associated with Poor Prognosis, and ACTN1 Silencing Suppresses Cell Proliferation and Metastasis in Oral Squamous Cell Carcinoma.	16
31365757	2020	Investigation of calmodulin-like and rod domain mutations suggests common molecular mechanism for α-actinin-1-linked congenital macrothrombocytopenia.	1
31889512	2020	Actin-Bundling Proteins (Actinin-4 and Fascin-1) are Involved in the Development of Pancreatic Intraepithelial Neoplasia (PanIN).	7

Citation

Dessen P

ACTN1 (actinin alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47580/actn1-(actinin-alpha-1)