ACTN3

GENERAL INFORMATION

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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

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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

RNA data suggests selective expression in skeletal muscle. RNA-based expert annotation gave inconclusive results.

ANTIBODY RELIABILITY

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Data reliability
description

Pending external verification. Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.

Data reliability

Uncertain based on 1 antibody.
HPA006035
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
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
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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


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

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 78.38)

Entrez gene

89

UniProt

Q08043 (UniProt - Evidence at protein level)

neXtProt

NX_Q08043

Antibodypedia

ACTN3 antibodies


PROTEIN BROWSER

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ENST00000502692
 
ENST00000513398
 
 
 
 


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)

ACTN3-001 ENSP00000426797
ENST00000513398
Q08043
Show all »
Show » Show » 901 103.2 No 0
ACTN3-003 ENSP00000422007
ENST00000502692
Show » Show » 944 107.6 No 0