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ACTA1

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GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Cell line enriched (BEWO)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (BEWO)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

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 83.38)

Entrez gene

 58

UniProt

 P68133 (UniProt - Evidence at protein level)

neXtProt

 NX_P68133

Antibodypedia

 ACTA1 antibodies

PROTEIN BROWSER
ACTA1-001
ACTA1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACTA1-001
ENSP00000355645
ENST00000366684
P68133 [Direct mapping]
Actin, alpha skeletal muscle
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001725 [stress fiber]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005615 [extracellular space]
GO:0005829 [cytosol]
GO:0005865 [striated muscle thin filament]
GO:0005884 [actin filament]
GO:0006936 [muscle contraction]
GO:0009612 [response to mechanical stimulus]
GO:0009991 [response to extracellular stimulus]
GO:0010226 [response to lithium ion]
GO:0010628 [positive regulation of gene expression]
GO:0015629 [actin cytoskeleton]
GO:0016049 [cell growth]
GO:0017022 [myosin binding]
GO:0030017 [sarcomere]
GO:0030027 [lamellipodium]
GO:0030049 [muscle filament sliding]
GO:0030175 [filopodium]
GO:0030240 [skeletal muscle thin filament assembly]
GO:0043503 [skeletal muscle fiber adaptation]
GO:0043531 [ADP binding]
GO:0044297 [cell body]
GO:0048545 [response to steroid hormone]
GO:0048741 [skeletal muscle fiber development]
GO:0070062 [extracellular exosome]
GO:0072562 [blood microparticle]
GO:0090131 [mesenchyme migration]
Show all
 377 aa
42.1 kDa 		No 0
ACTA1-201
ENSP00000355644
ENST00000366683
A6NL76 [Direct mapping]
Actin, alpha skeletal muscle
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005524 [ATP binding]
Show all
 254 aa
28.2 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.