ID   A0A087WSZ2_HUMAN        Unreviewed;       944 AA.
AC   A0A087WSZ2;
DT   29-OCT-2014, integrated into UniProtKB/TrEMBL.
DT   29-OCT-2014, sequence version 1.
DT   22-APR-2020, entry version 41.
DE   SubName: Full=Alpha-actinin-3 {ECO:0000313|Ensembl:ENSP00000422007};
GN   Name=ACTN3 {ECO:0000313|Ensembl:ENSP00000422007};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000422007, ECO:0000313|Proteomes:UP000005640};
RN   [1] {ECO:0000313|Ensembl:ENSP00000422007, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [2] {ECO:0000313|Ensembl:ENSP00000422007}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (SEP-2014) to UniProtKB.
CC   -!- CAUTION: Lacks conserved residue(s) required for the propagation of
CC       feature annotation. {ECO:0000256|PROSITE-ProRule:PRU00448}.
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DR   EMBL; AMYH02024979; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AP002748; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001245300.2; NM_001258371.2.
DR   SMR; A0A087WSZ2; -.
DR   jPOST; A0A087WSZ2; -.
DR   PeptideAtlas; A0A087WSZ2; -.
DR   PRIDE; A0A087WSZ2; -.
DR   Antibodypedia; 73518; 229 antibodies.
DR   Ensembl; ENST00000502692; ENSP00000422007; ENSG00000248746.
DR   GeneID; 89; -.
DR   UCSC; uc031xsh.2; human.
DR   CTD; 89; -.
DR   EuPathDB; HostDB:ENSG00000248746.5; -.
DR   HGNC; HGNC:165; ACTN3.
DR   OpenTargets; ENSG00000248746; -.
DR   GeneTree; ENSGT00940000153968; -.
DR   OMA; NQRDYES; -.
DR   OrthoDB; 543832at2759; -.
DR   ChiTaRS; ACTN3; human.
DR   GenomeRNAi; 89; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   Bgee; ENSG00000248746; Expressed in skeletal muscle tissue of rectus abdominis and 88 other tissues.
DR   ExpressionAtlas; A0A087WSZ2; baseline and differential.
DR   GO; GO:0005903; C:brush border; IEA:Ensembl.
DR   GO; GO:0030018; C:Z disc; IEA:Ensembl.
DR   GO; GO:0051015; F:actin filament binding; IEA:Ensembl.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0060349; P:bone morphogenesis; IEA:Ensembl.
DR   GO; GO:0006936; P:muscle contraction; IEA:Ensembl.
DR   GO; GO:0070885; P:negative regulation of calcineurin-NFAT signaling cascade; IEA:Ensembl.
DR   GO; GO:0120163; P:negative regulation of cold-induced thermogenesis; IEA:Ensembl.
DR   GO; GO:0045820; P:negative regulation of glycolytic process; IEA:Ensembl.
DR   GO; GO:0090324; P:negative regulation of oxidative phosphorylation; IEA:Ensembl.
DR   GO; GO:1901078; P:negative regulation of relaxation of muscle; IEA:Ensembl.
DR   GO; GO:1900159; P:positive regulation of bone mineralization involved in bone maturation; IEA:Ensembl.
DR   GO; GO:0031448; P:positive regulation of fast-twitch skeletal muscle fiber contraction; IEA:Ensembl.
DR   GO; GO:1904025; P:positive regulation of glucose catabolic process to lactate via pyruvate; IEA:Ensembl.
DR   GO; GO:0048743; P:positive regulation of skeletal muscle fiber development; IEA:Ensembl.
DR   GO; GO:0048633; P:positive regulation of skeletal muscle tissue growth; IEA:Ensembl.
DR   GO; GO:1903715; P:regulation of aerobic respiration; IEA:Ensembl.
DR   GO; GO:0014728; P:regulation of the force of skeletal muscle contraction; IEA:Ensembl.
DR   GO; GO:0014894; P:response to denervation involved in regulation of muscle adaptation; IEA:Ensembl.
DR   GO; GO:0014732; P:skeletal muscle atrophy; IEA:Ensembl.
DR   GO; GO:0014883; P:transition between fast and slow fiber; IEA:Ensembl.
DR   CDD; cd00014; CH; 2.
DR   CDD; cd00051; EFh; 1.
DR   Gene3D; 1.10.418.10; -; 2.
DR   InterPro; IPR001589; Actinin_actin-bd_CS.
DR   InterPro; IPR001715; CH-domain.
DR   InterPro; IPR036872; CH_dom_sf.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR014837; EF-hand_Ca_insen.
DR   InterPro; IPR002048; EF_hand_dom.
DR   InterPro; IPR018159; Spectrin/alpha-actinin.
DR   InterPro; IPR002017; Spectrin_repeat.
DR   Pfam; PF00307; CH; 2.
DR   Pfam; PF08726; EFhand_Ca_insen; 1.
DR   Pfam; PF00435; Spectrin; 4.
DR   SMART; SM00033; CH; 2.
DR   SMART; SM00054; EFh; 2.
DR   SMART; SM00150; SPEC; 2.
DR   SUPFAM; SSF47473; SSF47473; 1.
DR   SUPFAM; SSF47576; SSF47576; 1.
DR   PROSITE; PS00020; ACTININ_2; 1.
DR   PROSITE; PS50021; CH; 2.
DR   PROSITE; PS50222; EF_HAND_2; 2.
PE   1: Evidence at protein level;
KW   Actin-binding {ECO:0000256|SAAS:SAAS00782879};
KW   Coiled coil {ECO:0000256|SAM:Coils};
KW   Proteomics identification {ECO:0000213|MaxQB:A0A087WSZ2,
KW   ECO:0000213|PeptideAtlas:A0A087WSZ2, ECO:0000213|ProteomicsDB:A0A087WSZ2};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Repeat {ECO:0000256|SAAS:SAAS00782917}.
FT   DOMAIN          88..192
FT                   /note="Calponin-homology (CH)"
FT                   /evidence="ECO:0000259|PROSITE:PS50021"
FT   DOMAIN          201..307
FT                   /note="Calponin-homology (CH)"
FT                   /evidence="ECO:0000259|PROSITE:PS50021"
FT   DOMAIN          803..838
FT                   /note="EF-hand"
FT                   /evidence="ECO:0000259|PROSITE:PS50222"
FT   DOMAIN          839..874
FT                   /note="EF-hand"
FT                   /evidence="ECO:0000259|PROSITE:PS50222"
FT   REGION          45..85
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          322..349
FT                   /evidence="ECO:0000256|SAM:Coils"
FT   COILED          487..507
FT                   /evidence="ECO:0000256|SAM:Coils"
FT   COILED          543..570
FT                   /evidence="ECO:0000256|SAM:Coils"
FT   COILED          728..755
FT                   /evidence="ECO:0000256|SAM:Coils"
SQ   SEQUENCE   944 AA;  107629 MW;  D8A7BE9FA569BD3D CRC64;
     MGIGLCVPPA RCWKRLTRSS RGQPLERPAA TIIIGLSIVE RSKQTQRGPV DFSRSHSAPA
     AEQECKPRIS AARSTPAPPS PAVPGFRTTP CQTFTAWCNS HLRKAGTQIE NIEEDFRNGL
     KLMLLLEVIS GERLPRPDKG KMRFHKIANV NKALDFIASK GVKLVSIGAE EIVDGNLKMT
     LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNVQNFHTSW KDGLALCALI
     HRHRPDLIDY AKLRKDDPIG NLNTAFEVAE KYLDIPKMLD AEDIVNTPKP DEKAIMTYVS
     CFYHAFAGAE QAETAANRIC KVLAVNQENE KLMEEYEKLA SELLEWIRRT VPWLENRVGE
     PSMSAMQRKL EDFRDYRRLH KPPRIQEKCQ LEINFNTLQT KLRLSHRPAF MPSEGKLVSD
     IANAWRGLEQ VEKGYEDWLL SEIRRLQRLQ HLAEKFRQKA SLHEAWTRGK EEMLSQRDYD
     SALLQEVRAL LRRHEAFESD LAAHQDRVEH IAALAQELNE LDYHEAASVN SRCQAICDQW
     DNLGTLTQKR RDALERMEKL LETIDRLQLE FARRAAPFNN WLDGAVEDLQ DVWLVHSVEE
     TQSLLTAHDQ FKATLPEADR ERGAIMGIQG EIQKICQTYG LRPCSTNPYI TLSPQDINTK
     WDMVRKLVPS CDQTLQEELA RQQVNERLRR QFAAQANAIG PWIQAKVEEV GRLAAGLAGS
     LEEQMAGLRQ QEQNIINYKT NIDRLEGDHQ LLQESLVFDN KHTVYSMEHI RVGWEQLLTS
     IARTINEVEN QVLTRDAKGL SQEQLNEFRA SFNHFDRKQN GMMEPDDFRA CLISMGYDLG
     EVEFARIMTM VDPNAAGVVT FQAFIDFMTR ETAETDTTEQ VVASFKILAG DKNYITPEEL
     RRELPAKQAE YCIRRMVPYK GSGAPAGALD YVAFSSALYG ESDL
//