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Protein

Alpha-actinin-3

Gene

ACTN3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Calcium bindingi773 – 7841; possibly ancestralAdd BLAST12
Calcium bindingi809 – 8202; possibly ancestralAdd BLAST12

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

Keywordsi

Molecular functionActin-binding
LigandCalcium, Metal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-actinin-3
Alternative name(s):
Alpha-actinin skeletal muscle isoform 3
F-actin cross-linking protein
Gene namesi
Name:ACTN3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000248746.5
HGNCiHGNC:165 ACTN3
neXtProtiNX_Q08043

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi89
MalaCardsiACTN3
MIMi102574 phenotype
617749 phenotype
OpenTargetsiENSG00000248746
PharmGKBiPA24485

Polymorphism and mutation databases

DMDMi215273967

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000734381 – 901Alpha-actinin-3Add BLAST901

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ08043
MaxQBiQ08043
PeptideAtlasiQ08043
PRIDEiQ08043
ProteomicsDBi58566

PTM databases

iPTMnetiQ08043
PhosphoSitePlusiQ08043
SwissPalmiQ08043

Expressioni

Tissue specificityi

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

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

Organism-specific databases

HPAiHPA006035

Interactioni

Subunit structurei

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

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106604, 27 interactors
IntActiQ08043, 52 interactors
MINTiQ08043

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ08043
SMRiQ08043
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ08043

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini45 – 149Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST105
Domaini158 – 264Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST107
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
Regioni1 – 261Actin-bindingAdd BLAST261

Sequence similaritiesi

Belongs to the alpha-actinin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

GeneTreeiENSGT00760000118813
HOVERGENiHBG050453
InParanoidiQ08043
KOiK21073
PhylomeDBiQ08043

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

Sequence (1+)i

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
Checksum:iC49B7885E7E1EDA7
GO

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:
D6RH00D6RH00_HUMAN
Alpha-actinin-3
ACTN3
72Annotation score:

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

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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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:
PDBei
RCSB PDBi
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

CTDi89
DisGeNETi89
EuPathDBiHostDB:ENSG00000248746.5
GeneCardsiACTN3
HGNCiHGNC:165 ACTN3
HPAiHPA006035
MalaCardsiACTN3
MIMi102574 phenotype
617749 phenotype
neXtProtiNX_Q08043
OpenTargetsiENSG00000248746
PharmGKBiPA24485
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00760000118813
HOVERGENiHBG050453
InParanoidiQ08043
KOiK21073
PhylomeDBiQ08043

Enzyme and pathway databases

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

Miscellaneous databases

EvolutionaryTraceiQ08043
GeneWikiiACTN3
GenomeRNAii89
PROiPR:Q08043
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiACTN3_HUMAN
AccessioniPrimary (citable) accession number: Q08043
Secondary accession number(s): A6NP77, Q4KKV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: November 25, 2008
Last modified: October 10, 2018
This is version 171 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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