ACTA1

GENERAL INFORMATION

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Gene name

ACTA1

Gene description

Actin, alpha 1, skeletal muscle

Protein class

Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in myoepithelial cells, heart, skeletal and smooth muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Data reliability

Supportive based on 3 antibodies.
HPA041264 , HPA041271 , CAB000045
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

ACTA1 (HGNC Symbol)

Synonyms

ACTA, NEM3

Description

Actin, alpha 1, skeletal muscle (HGNC Symbol)

Entrez gene summary

The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects. [provided by RefSeq, Jul 2008]

Chromosome

1

Cytoband

q42.13

Chromosome location (bp)

229431245 - 229434098

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143632 (version 78.38)

Entrez gene

58

UniProt

P68133 (UniProt - Evidence at protein level)

neXtProt

NX_P68133

Antibodypedia

ACTA1 antibodies


PROTEIN BROWSER

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ENST00000366683
 
ENST00000366684
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ACTA1-001 ENSP00000355645
ENST00000366684
P68133
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Show » Show » 377 42.1 No 0
ACTA1-201 ENSP00000355644
ENST00000366683
Show » 254 28.2 No 0