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ACTN3

GENERAL INFORMATION

Gene name

 ACTN3

Gene description

 Actinin, alpha 3 (gene/pseudogene)

Protein class

 Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (skeletal muscle)
GTEx:Tissue enriched (skeletal muscle)
FANTOM5:Tissue enriched (skeletal muscle)

Protein evidence

 Evidence at protein level

Protein expression

 Estimation of protein expression could not be performed. View primary data.

DATA RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. Pending external verification. Caution, targets protein from more than one gene.

Reliability score

 Uncertain based on 1 antibody.
HPA006035
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (skeletal muscle)

GENE INFORMATION

Gene name

 ACTN3

Synonyms

Description

 Actinin, alpha 3 (gene/pseudogene) (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]

Chromosome

 11

Cytoband

 q13.2

Chromosome location (bp)

 66546395 - 66563329

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000248746 (version 83.38)

Entrez gene

 89

UniProt

 Q08043 (UniProt - Evidence at protein level)

neXtProt

 NX_Q08043

Antibodypedia

 ACTN3 antibodies

PROTEIN BROWSER
ACTN3-001
ACTN3-003

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACTN3-001
ENSP00000426797
ENST00000513398
Q08043 [Direct mapping]
Alpha-actinin-3
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
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GO:0003779 [actin binding]
GO:0005178 [integrin binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005925 [focal adhesion]
GO:0008307 [structural constituent of muscle]
GO:0014728 [regulation of the force of skeletal muscle contraction]
GO:0014732 [skeletal muscle atrophy]
GO:0014883 [transition between fast and slow fiber]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0030049 [muscle filament sliding]
GO:0031143 [pseudopodium]
GO:0042803 [protein homodimerization activity]
GO:0042981 [regulation of apoptotic process]
GO:0044325 [ion channel binding]
GO:0045820 [negative regulation of glycolytic process]
GO:0048041 [focal adhesion assembly]
GO:0048633 [positive regulation of skeletal muscle tissue growth]
GO:0070062 [extracellular exosome]
GO:0070885 [negative regulation of calcineurin-NFAT signaling cascade]
GO:0090324 [negative regulation of oxidative phosphorylation]
GO:1903715 [regulation of aerobic respiration]
GO:1904025 [positive regulation of glucose catabolic process to lactate via pyruvate]
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 901 aa
103.2 kDa 		No 0
ACTN3-003
ENSP00000422007
ENST00000502692
A0A087WSZ2 [Direct mapping]
Alpha-actinin-3
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   MEMSAT3 predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005903 [brush border]
GO:0006936 [muscle contraction]
GO:0014728 [regulation of the force of skeletal muscle contraction]
GO:0014732 [skeletal muscle atrophy]
GO:0014883 [transition between fast and slow fiber]
GO:0014894 [response to denervation involved in regulation of muscle adaptation]
GO:0030017 [sarcomere]
GO:0030018 [Z disc]
GO:0031448 [positive regulation of fast-twitch skeletal muscle fiber contraction]
GO:0045820 [negative regulation of glycolytic process]
GO:0048633 [positive regulation of skeletal muscle tissue growth]
GO:0048743 [positive regulation of skeletal muscle fiber development]
GO:0060349 [bone morphogenesis]
GO:0070885 [negative regulation of calcineurin-NFAT signaling cascade]
GO:0090257 [regulation of muscle system process]
GO:0090324 [negative regulation of oxidative phosphorylation]
GO:1900159 [positive regulation of bone mineralization involved in bone maturation]
GO:1901078 [negative regulation of relaxation of muscle]
GO:1903715 [regulation of aerobic respiration]
GO:1904025 [positive regulation of glucose catabolic process to lactate via pyruvate]
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 944 aa
107.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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