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Protein

Alpha-actinin-3

Gene

ACTN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi773 – 7841; possibly ancestralAdd BLAST12
Calcium bindingi809 – 8202; possibly ancestralAdd BLAST12

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actin binding Source: UniProtKB-KW
  • calcium ion binding Source: InterPro
  • integrin binding Source: UniProtKB
  • ion channel binding Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • structural constituent of muscle Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-373753 Nephrin family interactions
R-HSA-390522 Striated Muscle Contraction

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alpha-actinin-3
Alternative name(s):
Alpha-actinin skeletal muscle isoform 3
F-actin cross-linking protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACTN3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000248746.5

Human Gene Nomenclature Database

More...
HGNCi
HGNC:165 ACTN3

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q08043

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
89

MalaCards human disease database

More...
MalaCardsi
ACTN3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102574 phenotype
617749 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000248746

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24485

Polymorphism and mutation databases

Domain mapping of disease mutations (DMDM)

More...
DMDMi
215273967

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000734381 – 901Alpha-actinin-3Add BLAST901

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q08043

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q08043

PeptideAtlas

More...
PeptideAtlasi
Q08043

PRoteomics IDEntifications database

More...
PRIDEi
Q08043

ProteomicsDB human proteome resource

More...
ProteomicsDBi
58566

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q08043

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q08043

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q08043

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed only in a subset of type 2 skeletal muscle fibers.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000248746 Expressed in 89 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis

CleanEx database of gene expression profiles

More...
CleanExi
HS_ACTN3

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q08043 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q08043 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006035

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
ACTN1P128144EBI-2880652,EBI-351710

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106604, 27 interactors

Protein interaction database and analysis system

More...
IntActi
Q08043, 52 interactors

Molecular INTeraction database

More...
MINTi
Q08043

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1901
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q08043

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q08043

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q08043

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini45 – 149Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini158 – 264Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati288 – 398Spectrin 1Add BLAST111
Repeati408 – 513Spectrin 2Add BLAST106
Repeati523 – 634Spectrin 3Add BLAST112
Repeati644 – 747Spectrin 4Add BLAST104
Domaini760 – 795EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini796 – 831EF-hand 2PROSITE-ProRule annotationAdd BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 261Actin-bindingAdd BLAST261

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the alpha-actinin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153968

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050453

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q08043

KEGG Orthology (KO)

More...
KOi
K21073

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q08043

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00014 CH, 2 hits
cd00051 EFh, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.418.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50222 EF_HAND_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q08043-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMMVMQPEGL GAGEGRFAGG GGGGEYMEQE EDWDRDLLLD PAWEKQQRKT
60 70 80 90 100
FTAWCNSHLR KAGTQIENIE EDFRNGLKLM LLLEVISGER LPRPDKGKMR
110 120 130 140 150
FHKIANVNKA LDFIASKGVK LVSIGAEEIV DGNLKMTLGM IWTIILRFAI
160 170 180 190 200
QDISVEETSA KEGLLLWCQR KTAPYRNVNV QNFHTSWKDG LALCALIHRH
210 220 230 240 250
RPDLIDYAKL RKDDPIGNLN TAFEVAEKYL DIPKMLDAED IVNTPKPDEK
260 270 280 290 300
AIMTYVSCFY HAFAGAEQAE TAANRICKVL AVNQENEKLM EEYEKLASEL
310 320 330 340 350
LEWIRRTVPW LENRVGEPSM SAMQRKLEDF RDYRRLHKPP RIQEKCQLEI
360 370 380 390 400
NFNTLQTKLR LSHRPAFMPS EGKLVSDIAN AWRGLEQVEK GYEDWLLSEI
410 420 430 440 450
RRLQRLQHLA EKFRQKASLH EAWTRGKEEM LSQRDYDSAL LQEVRALLRR
460 470 480 490 500
HEAFESDLAA HQDRVEHIAA LAQELNELDY HEAASVNSRC QAICDQWDNL
510 520 530 540 550
GTLTQKRRDA LERMEKLLET IDRLQLEFAR RAAPFNNWLD GAVEDLQDVW
560 570 580 590 600
LVHSVEETQS LLTAHDQFKA TLPEADRERG AIMGIQGEIQ KICQTYGLRP
610 620 630 640 650
CSTNPYITLS PQDINTKWDM VRKLVPSCDQ TLQEELARQQ VNERLRRQFA
660 670 680 690 700
AQANAIGPWI QAKVEEVGRL AAGLAGSLEE QMAGLRQQEQ NIINYKTNID
710 720 730 740 750
RLEGDHQLLQ ESLVFDNKHT VYSMEHIRVG WEQLLTSIAR TINEVENQVL
760 770 780 790 800
TRDAKGLSQE QLNEFRASFN HFDRKQNGMM EPDDFRACLI SMGYDLGEVE
810 820 830 840 850
FARIMTMVDP NAAGVVTFQA FIDFMTRETA ETDTTEQVVA SFKILAGDKN
860 870 880 890 900
YITPEELRRE LPAKQAEYCI RRMVPYKGSG APAGALDYVA FSSALYGESD

L
Length:901
Mass (Da):103,241
Last modified:November 25, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC49B7885E7E1EDA7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WSZ2A0A087WSZ2_HUMAN
Alpha-actinin-3
ACTN3
944Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RH00D6RH00_HUMAN
Alpha-actinin-3
ACTN3
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AP002748 differs from that shown. According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.Curated

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state [MIMi:617749].1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_012705523R → Q3 PublicationsCorresponds to variant dbSNP:rs1671064Ensembl.1
Natural variantiVAR_080044577 – 901Missing Common polymorphism. 1 PublicationAdd BLAST325
Natural variantiVAR_047528628C → R2 PublicationsCorresponds to variant dbSNP:rs618838Ensembl.1
Natural variantiVAR_033488635E → A. Corresponds to variant dbSNP:rs2229456Ensembl.1
Natural variantiVAR_047529776Q → R2 PublicationsCorresponds to variant dbSNP:rs540874Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M86407 mRNA Translation: AAA51585.1
AP002748 Genomic DNA No translation available.
BC099647 mRNA Translation: AAH99647.1
BC099649 mRNA Translation: AAH99649.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS53663.1

Protein sequence database of the Protein Information Resource

More...
PIRi
B40199 FAHUA3

NCBI Reference Sequences

More...
RefSeqi
NP_001095.2, NM_001104.3
NP_001245300.2, NM_001258371.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.654432
Hs.737862

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000513398; ENSP00000426797; ENSG00000248746

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
89

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:89

UCSC genome browser

More...
UCSCi
uc021qlz.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M86407 mRNA Translation: AAA51585.1
AP002748 Genomic DNA No translation available.
BC099647 mRNA Translation: AAH99647.1
BC099649 mRNA Translation: AAH99649.1
CCDSiCCDS53663.1
PIRiB40199 FAHUA3
RefSeqiNP_001095.2, NM_001104.3
NP_001245300.2, NM_001258371.2
UniGeneiHs.654432
Hs.737862

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1TJTX-ray2.19A26-273[»]
1WKUX-ray1.60A/B26-273[»]
3LUEelectron microscopy-K/L/M/N/O/P/Q/R/S/T42-150[»]
ProteinModelPortaliQ08043
SMRiQ08043
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106604, 27 interactors
IntActiQ08043, 52 interactors
MINTiQ08043

PTM databases

iPTMnetiQ08043
PhosphoSitePlusiQ08043
SwissPalmiQ08043

Polymorphism and mutation databases

DMDMi215273967

Proteomic databases

EPDiQ08043
MaxQBiQ08043
PeptideAtlasiQ08043
PRIDEiQ08043
ProteomicsDBi58566

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000513398; ENSP00000426797; ENSG00000248746
GeneIDi89
KEGGihsa:89
UCSCiuc021qlz.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
89
DisGeNETi89
EuPathDBiHostDB:ENSG00000248746.5

GeneCards: human genes, protein and diseases

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GeneCardsi
ACTN3
HGNCiHGNC:165 ACTN3
HPAiHPA006035
MalaCardsiACTN3
MIMi102574 phenotype
617749 phenotype
neXtProtiNX_Q08043
OpenTargetsiENSG00000248746
PharmGKBiPA24485

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

GeneTreeiENSGT00940000153968
HOVERGENiHBG050453
InParanoidiQ08043
KOiK21073
PhylomeDBiQ08043

Enzyme and pathway databases

ReactomeiR-HSA-373753 Nephrin family interactions
R-HSA-390522 Striated Muscle Contraction

Miscellaneous databases

EvolutionaryTraceiQ08043

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACTN3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
89

Protein Ontology

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PROi
PR:Q08043

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000248746 Expressed in 89 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
CleanExiHS_ACTN3
ExpressionAtlasiQ08043 baseline and differential
GenevisibleiQ08043 HS

Family and domain databases

CDDicd00014 CH, 2 hits
cd00051 EFh, 1 hit
Gene3Di1.10.418.10, 2 hits
InterProiView protein in InterPro
IPR001589 Actinin_actin-bd_CS
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR011992 EF-hand-dom_pair
IPR014837 EF-hand_Ca_insen
IPR002048 EF_hand_dom
IPR018159 Spectrin/alpha-actinin
IPR002017 Spectrin_repeat
PfamiView protein in Pfam
PF00307 CH, 2 hits
PF08726 EFhand_Ca_insen, 1 hit
PF00435 Spectrin, 4 hits
SMARTiView protein in SMART
SM00033 CH, 2 hits
SM00054 EFh, 2 hits
SM00150 SPEC, 2 hits
SUPFAMiSSF47473 SSF47473, 1 hit
SSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS00019 ACTININ_1, 1 hit
PS00020 ACTININ_2, 1 hit
PS50021 CH, 2 hits
PS50222 EF_HAND_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACTN3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q08043
Secondary accession number(s): A6NP77, Q4KKV2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 25, 2008
Last modified: December 5, 2018
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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