UniProtKB - Q08043 (ACTN3_HUMAN)

BLAST

>sp|Q08043|ACTN3_HUMAN Alpha-actinin-3 OS=Homo sapiens OX=9606 GN=ACTN3 PE=1 SV=2
MMMVMQPEGLGAGEGRFAGGGGGGEYMEQEEDWDRDLLLDPAWEKQQRKTFTAWCNSHLR
KAGTQIENIEEDFRNGLKLMLLLEVISGERLPRPDKGKMRFHKIANVNKALDFIASKGVK
LVSIGAEEIVDGNLKMTLGMIWTIILRFAIQDISVEETSAKEGLLLWCQRKTAPYRNVNV
QNFHTSWKDGLALCALIHRHRPDLIDYAKLRKDDPIGNLNTAFEVAEKYLDIPKMLDAED
IVNTPKPDEKAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENEKLMEEYEKLASEL
LEWIRRTVPWLENRVGEPSMSAMQRKLEDFRDYRRLHKPPRIQEKCQLEINFNTLQTKLR
LSHRPAFMPSEGKLVSDIANAWRGLEQVEKGYEDWLLSEIRRLQRLQHLAEKFRQKASLH
EAWTRGKEEMLSQRDYDSALLQEVRALLRRHEAFESDLAAHQDRVEHIAALAQELNELDY
HEAASVNSRCQAICDQWDNLGTLTQKRRDALERMEKLLETIDRLQLEFARRAAPFNNWLD
GAVEDLQDVWLVHSVEETQSLLTAHDQFKATLPEADRERGAIMGIQGEIQKICQTYGLRP
CSTNPYITLSPQDINTKWDMVRKLVPSCDQTLQEELARQQVNERLRRQFAAQANAIGPWI
QAKVEEVGRLAAGLAGSLEEQMAGLRQQEQNIINYKTNIDRLEGDHQLLQESLVFDNKHT
VYSMEHIRVGWEQLLTSIARTINEVENQVLTRDAKGLSQEQLNEFRASFNHFDRKQNGMM
EPDDFRACLISMGYDLGEVEFARIMTMVDPNAAGVVTFQAFIDFMTRETAETDTTEQVVA
SFKILAGDKNYITPEELRRELPAKQAEYCIRRMVPYKGSGAPAGALDYVAFSSALYGESD
L

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History
Entry version 171 (10 Oct 2018)
Sequence version 2 (25 Nov 2008)
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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 key	Position(s)	DescriptionActions	Graphical view	Length
Calcium bindingⁱ	773 – 784	1; possibly ancestralAdd BLAST		12
Calcium bindingⁱ	809 – 820	2; possibly ancestralAdd BLAST		12

GO - Molecular functionⁱ

actin binding Source: UniProtKB-KW
calcium ion binding Source: InterPro
integrin binding
Source: UniProtKB
Traceable author statementⁱ
- 8104223
ion channel binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19943616
protein homodimerization activity
Source: UniProtKB
Traceable author statementⁱ
- 15841212
structural constituent of muscle
Source: ProtInc
Traceable author statementⁱ
- 1339456

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

focal adhesion assembly
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 16807302
muscle filament sliding Source: Reactome
negative regulation of calcineurin-NFAT signaling cascade Source: UniProtKB
negative regulation of cold-induced thermogenesis
Source: YuBioLab
Inferred from sequence or structural similarityⁱ
- 25590636
negative regulation of glycolytic process Source: UniProtKB
negative regulation of oxidative phosphorylation Source: UniProtKB
positive regulation of glucose catabolic process to lactate via pyruvate Source: UniProtKB
positive regulation of skeletal muscle tissue growth Source: UniProtKB
regulation of aerobic respiration Source: UniProtKB
regulation of apoptotic process
Source: UniProtKB
Non-traceable author statementⁱ
- 16807302
regulation of the force of skeletal muscle contraction Source: UniProtKB
response to denervation involved in regulation of muscle adaptation Source: UniProtKB
skeletal muscle atrophy Source: UniProtKB
transition between fast and slow fiber Source: UniProtKB

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Actin-binding
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

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

Reactomeⁱ

R-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000248746.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:165 ACTN3
neXtProtⁱ	NX_Q08043

Subcellular locationⁱ

GO - Cellular component

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	89
MalaCards human disease database More...MalaCardsⁱ	ACTN3
MIMⁱ	102574 phenotype 617749 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000248746
PharmGKBⁱ	PA24485

Polymorphism and mutation databases

DMDMⁱ	215273967

DMDMⁱ

215273967

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000073438	1 – 901	Alpha-actinin-3Add BLAST		901

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Modified residueⁱ	1	N-acetylmethionineCombined sources		1

Keywords - PTMⁱ

Acetylation

Proteomic databases

EPDⁱ	Q08043
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q08043
PeptideAtlas More...PeptideAtlasⁱ	Q08043
PRIDEⁱ	Q08043
ProteomicsDBⁱ	58566

PTM databases

iPTMnetⁱ	Q08043
PhosphoSitePlusⁱ	Q08043
SwissPalmⁱ	Q08043

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000248746 Expressed in 89 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
CleanExⁱ	HS_ACTN3
ExpressionAtlasⁱ	Q08043 baseline and differential
Genevisibleⁱ	Q08043 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA006035

HPAⁱ

HPA006035

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
ACTN1	P12814	4	EBI-2880652,EBI-351710

With

Entry

#Exp.

IntAct

Notes

ACTN1

P12814

EBI-2880652,EBI-351710

GO - Molecular functionⁱ

actin binding Source: UniProtKB-KW
integrin binding
Source: UniProtKB
Traceable author statementⁱ
- 8104223
ion channel binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 19943616
protein homodimerization activity
Source: UniProtKB
Traceable author statementⁱ
- 15841212

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	106604, 27 interactors
IntActⁱ	Q08043, 52 interactors
Molecular INTeraction database More...MINTⁱ	Q08043

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	43 – 59	Combined sources	17
Helixⁱ	60 – 62	Combined sources	3
Turnⁱ	69 – 75	Combined sources	7
Helixⁱ	77 – 87	Combined sources	11
Helixⁱ	100 – 115	Combined sources	16
Turnⁱ	116 – 118	Combined sources	3
Helixⁱ	126 – 131	Combined sources	6
Helixⁱ	134 – 149	Combined sources	16
Turnⁱ	150 – 152	Combined sources	3
Helixⁱ	160 – 172	Combined sources	13
Beta strandⁱ	182 – 184	Combined sources	3
Helixⁱ	185 – 187	Combined sources	3
Helixⁱ	191 – 200	Combined sources	10
Turnⁱ	202 – 204	Combined sources	3
Helixⁱ	207 – 209	Combined sources	3
Helixⁱ	215 – 229	Combined sources	15
Helixⁱ	238 – 243	Combined sources	6
Beta strandⁱ	244 – 246	Combined sources	3
Helixⁱ	249 – 265	Combined sources	17

Show more details

3D structure databases

ProteinModelPortalⁱ	Q08043
SMRⁱ	Q08043
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

Q08043

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Length
Domainⁱ	45 – 149	Calponin-homology (CH) 1PROSITE-ProRule annotationAdd BLAST	105
Domainⁱ	158 – 264	Calponin-homology (CH) 2PROSITE-ProRule annotationAdd BLAST	107
Repeatⁱ	288 – 398	Spectrin 1Add BLAST	111
Repeatⁱ	408 – 513	Spectrin 2Add BLAST	106
Repeatⁱ	523 – 634	Spectrin 3Add BLAST	112
Repeatⁱ	644 – 747	Spectrin 4Add BLAST	104
Domainⁱ	760 – 795	EF-hand 1PROSITE-ProRule annotationAdd BLAST	36
Domainⁱ	796 – 831	EF-hand 2PROSITE-ProRule annotationAdd BLAST	36

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	1 – 261	Actin-bindingAdd BLAST		261

Sequence similaritiesⁱ

Belongs to the alpha-actinin family.Curated

Keywords - Domainⁱ

Repeat

Phylogenomic databases

Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118813
HOVERGENⁱ	HBG050453
InParanoidⁱ	Q08043
KEGG Orthology (KO) More...KOⁱ	K21073
PhylomeDBⁱ	Q08043

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00014 CH, 2 hits cd00051 EFh, 1 hit
Gene3Dⁱ	1.10.418.10, 2 hits
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
SMARTⁱ	View protein in SMART SM00033 CH, 2 hits SM00054 EFh, 2 hits SM00150 SPEC, 2 hits
SUPFAMⁱ	SSF47473 SSF47473, 1 hit SSF47576 SSF47576, 1 hit
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

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

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

Q08043-1 [UniParc]FASTA Add 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

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A087WSZ2	A0A087WSZ2_HUMAN	Alpha-actinin-3 Alpha-actinin-3	ACTN3	944	Annotation score:
D6RH00	D6RH00_HUMAN	Alpha-actinin-3 Alpha-actinin-3	ACTN3	72	Annotation 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 key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012705	523	R → Q3 PublicationsCorresponds to variant dbSNP:rs1671064Ensembl.	1
Natural variantⁱVAR_080044	577 – 901	Missing Common polymorphism. 1 PublicationAdd BLAST	325
Natural variantⁱVAR_047528	628	C → R2 PublicationsCorresponds to variant dbSNP:rs618838Ensembl.	1
Natural variantⁱVAR_033488	635	E → A. Corresponds to variant dbSNP:rs2229456Ensembl.	1
Natural variantⁱVAR_047529	776	Q → 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS53663.1
PIRⁱ	B40199 FAHUA3
NCBI Reference Sequences More...RefSeqⁱ	NP_001095.2, NM_001104.3 NP_001245300.2, NM_001258371.2
UniGeneⁱ	Hs.654432 Hs.737862

Genome annotation databases

Ensemblⁱ	ENST00000513398; ENSP00000426797; ENSG00000248746
GeneIDⁱ	89
KEGGⁱ	hsa:89
UCSC genome browser More...UCSCⁱ	uc021qlz.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Protein	Similar proteins		Species	Score	Length	Source
Q08043	Alpha-actinin-3		MOUSE		900	UniRef90_O88990
Alpha-actinin-3		BOVIN		901
Actn3 protein		RAT		900
alpha-actinin-3 isoform X1		ODORO		907
alpha-actinin-3 isoform X2		PHYCD		907
+154

Protein	Similar proteins		Species	Score	Length	Source
Q08043	Alpha-actinin-2	)	HUMAN		894	UniRef50_P35609
Alpha-actinin-2		CHICK		897
Alpha-actinin-2		BOVIN		894
Alpha-actinin-2		MOUSE		894
Alpha-actinin-1		MACFA		892
+1564

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
CCDSⁱ	CCDS53663.1
PIRⁱ	B40199 FAHUA3
RefSeqⁱ	NP_001095.2, NM_001104.3 NP_001245300.2, NM_001258371.2
UniGeneⁱ	Hs.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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1TJT	X-ray	2.19	A	26-273	[»]
	1WKU	X-ray	1.60	A/B	26-273	[»]
	3LUE	electron microscopy	-	K/L/M/N/O/P/Q/R/S/T	42-150	[»]
ProteinModelPortalⁱ	Q08043
SMRⁱ	Q08043
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	106604, 27 interactors
IntActⁱ	Q08043, 52 interactors
MINTⁱ	Q08043

PTM databases

iPTMnetⁱ	Q08043
PhosphoSitePlusⁱ	Q08043
SwissPalmⁱ	Q08043

Polymorphism and mutation databases

DMDMⁱ	215273967

DMDMⁱ

215273967

Proteomic databases

EPDⁱ	Q08043
MaxQBⁱ	Q08043
PeptideAtlasⁱ	Q08043
PRIDEⁱ	Q08043
ProteomicsDBⁱ	58566

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000513398; ENSP00000426797; ENSG00000248746
GeneIDⁱ	89
KEGGⁱ	hsa:89
UCSCⁱ	uc021qlz.4 human

Organism-specific databases

CTDⁱ	89
DisGeNETⁱ	89
EuPathDBⁱ	HostDB:ENSG00000248746.5
GeneCardsⁱ	ACTN3
HGNCⁱ	HGNC:165 ACTN3
HPAⁱ	HPA006035
MalaCardsⁱ	ACTN3
MIMⁱ	102574 phenotype 617749 phenotype
neXtProtⁱ	NX_Q08043
OpenTargetsⁱ	ENSG00000248746
PharmGKBⁱ	PA24485
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

GeneTreeⁱ	ENSGT00760000118813
HOVERGENⁱ	HBG050453
InParanoidⁱ	Q08043
KOⁱ	K21073
PhylomeDBⁱ	Q08043

Enzyme and pathway databases

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

Reactomeⁱ

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

Miscellaneous databases

EvolutionaryTraceⁱ	Q08043
GeneWikiⁱ	ACTN3
GenomeRNAiⁱ	89
Protein Ontology More...PROⁱ	PR:Q08043
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000248746 Expressed in 89 organ(s), highest expression level in skeletal muscle tissue of rectus abdominis
CleanExⁱ	HS_ACTN3
ExpressionAtlasⁱ	Q08043 baseline and differential
Genevisibleⁱ	Q08043 HS

Family and domain databases

CDDⁱ	cd00014 CH, 2 hits cd00051 EFh, 1 hit
Gene3Dⁱ	1.10.418.10, 2 hits
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
Pfamⁱ	View protein in Pfam PF00307 CH, 2 hits PF08726 EFhand_Ca_insen, 1 hit PF00435 Spectrin, 4 hits
SMARTⁱ	View protein in SMART SM00033 CH, 2 hits SM00054 EFh, 2 hits SM00150 SPEC, 2 hits
SUPFAMⁱ	SSF47473 SSF47473, 1 hit SSF47576 SSF47576, 1 hit
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
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	ACTN3_HUMAN
Accessionⁱ	Q08043Primary (citable) accession number: Q08043 Secondary accession number(s): A6NP77, Q4KKV2
Entry historyⁱ	Integrated 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 statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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

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

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Supporting data

UniProtKB - Q08043 (ACTN3_HUMAN)

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Alpha-actinin-3

ACTN3

Select a section on the left to see content.

<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

Regions

<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

GO - Biological processi

Enzyme and pathway databases

<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

Organism-specific databases

<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

Cytoskeleton

Cytosol

Extracellular region or secreted

Other locations

<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

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

Region

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

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<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

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ