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UniProtKB - Q08043 (ACTN3_HUMAN)

Entry version 185 (07 Oct 2020)
Sequence version 2 (25 Nov 2008)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q08043

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 & Seán O’Donoghue; 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q08043, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ACTN3

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 or proteolytic cleavage.<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

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q08043

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q08043

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q08043

PeptideAtlas

More...PeptideAtlasi		Q08043

PRoteomics IDEntifications database

More...PRIDEi		Q08043

ProteomicsDB: a multi-organism 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 skeletal muscle tissue of rectus abdominis and 100 other tissues

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		ENSG00000248746, Tissue enriched (skeletal)

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details
Q08043
With#Exp.IntAct
ACTN1 [P12814]3EBI-2880652,EBI-351710
itself3EBI-2880652,EBI-2880652
ACTN4 [O43707]3EBI-2880652,EBI-351526
ASB9 [Q96DX5]3EBI-2880652,EBI-745641
ATP23 [Q9Y6H3]3EBI-2880652,EBI-12811889
C20orf85 [Q9H1P6]3EBI-2880652,EBI-12155483
C2CD6 [Q53TS8]3EBI-2880652,EBI-739879
CADPS [A2RRN7]3EBI-2880652,EBI-10179719
CTAG1B [P78358]5EBI-2880652,EBI-1188472
CTDSP1 [Q9GZU7]3EBI-2880652,EBI-751587
CXCL5 [P42830]3EBI-2880652,EBI-12175919
DDAH2 [O95865]3EBI-2880652,EBI-749139
ECM1 [Q16610]3EBI-2880652,EBI-947964
FAM90A1 [Q86YD7]3EBI-2880652,EBI-6658203
GLIS2 [Q9BZE0]3EBI-2880652,EBI-7251368
HGS [O14964]3EBI-2880652,EBI-740220
HOXD12 - isoform 2 [P35452-2]3EBI-2880652,EBI-17244356
HSF2BP [O75031]3EBI-2880652,EBI-7116203
IVD [P26440]3EBI-2880652,EBI-2866408
KRT6C [P48668]3EBI-2880652,EBI-2564105
LHX3 - isoform B [Q9UBR4-2]5EBI-2880652,EBI-12039345
LNX1 [Q8TBB1]3EBI-2880652,EBI-739832
MAGEA6 [P43360]3EBI-2880652,EBI-1045155
MICALL2 [Q8IY33]3EBI-2880652,EBI-2555563
MYOT [Q9UBF9]3EBI-2880652,EBI-296701
MYOZ1 [Q9NP98]3EBI-2880652,EBI-744402
NDUFAB1 [O14561]3EBI-2880652,EBI-1246261
NKAPD1 [Q6ZUT1]3EBI-2880652,EBI-3920396
ODF3B [A8MYP8]3EBI-2880652,EBI-12010090
PCCB [P05166]3EBI-2880652,EBI-1371908
PKP2 - isoform 1 [Q99959-2]3EBI-2880652,EBI-10987518
POU6F2 [P78424]3EBI-2880652,EBI-12029004
PPP1R18 [Q6NYC8]3EBI-2880652,EBI-2557469
PTK6 [Q13882]3EBI-2880652,EBI-1383632
RTP5 [Q14D33]3EBI-2880652,EBI-10217913
SNAI1 [O95863]3EBI-2880652,EBI-1045459
SOHLH1 [Q5JUK2]3EBI-2880652,EBI-12288855
SYNPO2L - isoform 2 [Q9H987-2]3EBI-2880652,EBI-12082116
TRAF1 [Q13077]3EBI-2880652,EBI-359224
TRIM29 [Q14134]3EBI-2880652,EBI-702370
USP2 [O75604]3EBI-2880652,EBI-743272
ZNF343 [Q6P1L6]3EBI-2880652,EBI-10252492
ZNF426 [Q9BUY5]3EBI-2880652,EBI-743265

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106604, 69 interactors

Protein interaction database and analysis system

More...IntActi		Q08043, 56 interactors

Molecular INTeraction database

More...MINTi		Q08043

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000422007

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q08043, protein

<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

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

More...SMRi		Q08043

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0035, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153968

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_005217_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q08043

KEGG Orthology (KO)

More...KOi		K21073

Database of Orthologous Groups

More...OrthoDBi		543832at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fin%5Fdisease">'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

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

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[»]
SMRiQ08043
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106604, 69 interactors
IntActiQ08043, 56 interactors
MINTiQ08043
STRINGi9606.ENSP00000422007

PTM databases

iPTMnetiQ08043
PhosphoSitePlusiQ08043
SwissPalmiQ08043

Polymorphism and mutation databases

BioMutaiACTN3
DMDMi215273967

Proteomic databases

EPDiQ08043
jPOSTiQ08043
MassIVEiQ08043
MaxQBiQ08043
PeptideAtlasiQ08043
PRIDEiQ08043
ProteomicsDBi58566

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		73518, 240 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		89
DisGeNETi89
EuPathDBiHostDB:ENSG00000248746.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		ACTN3
HGNCiHGNC:165, ACTN3
HPAiENSG00000248746, Tissue enriched (skeletal)
MalaCardsiACTN3
MIMi102574, phenotype
617749, phenotype
neXtProtiNX_Q08043
OpenTargetsiENSG00000248746
PharmGKBiPA24485

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0035, Eukaryota
GeneTreeiENSGT00940000153968
HOGENOMiCLU_005217_1_1_1
InParanoidiQ08043
KOiK21073
OrthoDBi543832at2759
PhylomeDBiQ08043

Enzyme and pathway databases

PathwayCommonsiQ08043
ReactomeiR-HSA-373753, Nephrin family interactions
R-HSA-390522, Striated Muscle Contraction

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		89, 0 hits in 72 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ACTN3, human
EvolutionaryTraceiQ08043

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ACTN3

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

More...GenomeRNAii		89
PharosiQ08043, Tbio

Protein Ontology

More...PROi		PR:Q08043
RNActiQ08043, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000248746, Expressed in skeletal muscle tissue of rectus abdominis and 100 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: October 7, 2020
This is version 185 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, Reference proteome

Documents

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