ID A0A087WSZ2_HUMAN Unreviewed; 944 AA. AC A0A087WSZ2; DT 29-OCT-2014, integrated into UniProtKB/TrEMBL. DT 29-OCT-2014, sequence version 1. DT 24-JUL-2024, entry version 62. DE SubName: Full=Actinin alpha 3 {ECO:0000313|Ensembl:ENSP00000422007.1}; GN Name=ACTN3 {ECO:0000313|Ensembl:ENSP00000422007.1}; 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:ENSP00000422007.1, ECO:0000313|Proteomes:UP000005640}; RN [1] {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:ENSP00000422007.1} RP IDENTIFICATION. RG Ensembl; RL Submitted (APR-2024) to UniProtKB. CC -!- SIMILARITY: Belongs to the alpha-actinin family. CC {ECO:0000256|ARBA:ARBA00010255}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 AlphaFoldDB; A0A087WSZ2; -. DR SMR; A0A087WSZ2; -. DR IntAct; A0A087WSZ2; 1. DR MassIVE; A0A087WSZ2; -. DR PRIDE; A0A087WSZ2; -. DR Antibodypedia; 73518; 266 antibodies from 30 providers. DR DNASU; 89; -. DR Ensembl; ENST00000502692.5; ENSP00000422007.1; ENSG00000248746.6. DR GeneID; 89; -. DR UCSC; uc031xsh.2; human. DR CTD; 89; -. DR DisGeNET; 89; -. DR HGNC; HGNC:165; ACTN3. DR VEuPathDB; HostDB:ENSG00000248746; -. DR GeneTree; ENSGT00940000153968; -. DR OrthoDB; 2872403at2759; -. DR BioGRID-ORCS; 89; 7 hits in 233 CRISPR screens. DR ChiTaRS; ACTN3; human. DR Proteomes; UP000005640; Chromosome 11. DR Bgee; ENSG00000248746; Expressed in skeletal muscle tissue of rectus abdominis and 100 other cell types or tissues. DR ExpressionAtlas; A0A087WSZ2; baseline and differential. DR GO; GO:0015629; C:actin cytoskeleton; IEA:UniProt. DR GO; GO:0005737; C:cytoplasm; IEA:UniProt. DR GO; GO:0003779; F:actin binding; IEA:UniProtKB-KW. DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro. DR CDD; cd21214; CH_ACTN_rpt1; 1. DR CDD; cd21216; CH_ACTN_rpt2; 1. DR CDD; cd00051; EFh; 1. DR CDD; cd00176; SPEC; 2. DR Gene3D; 1.20.58.60; -; 4. DR Gene3D; 1.10.418.10; Calponin-like domain; 2. DR Gene3D; 1.10.238.10; EF-hand; 2. DR InterPro; IPR001589; Actinin_actin-bd_CS. DR InterPro; IPR001715; CH_dom. 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 PANTHER; PTHR11915:SF432; ALPHA-ACTININ-3; 1. DR PANTHER; PTHR11915; SPECTRIN/FILAMIN RELATED CYTOSKELETAL PROTEIN; 1. 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; SM01184; efhand_Ca_insen; 1. DR SMART; SM00150; SPEC; 2. DR SUPFAM; SSF47576; Calponin-homology domain, CH-domain; 1. DR SUPFAM; SSF47473; EF-hand; 1. DR SUPFAM; SSF46966; Spectrin repeat; 4. DR PROSITE; PS00020; ACTININ_2; 1. DR PROSITE; PS50021; CH; 2. DR PROSITE; PS50222; EF_HAND_2; 1. PE 1: Evidence at protein level; KW Actin-binding {ECO:0000256|ARBA:ARBA00023203}; KW Coiled coil {ECO:0000256|SAM:Coils}; KW Metal-binding {ECO:0000256|ARBA:ARBA00022723}; KW Proteomics identification {ECO:0007829|PeptideAtlas:A0A087WSZ2, KW ECO:0007829|ProteomicsDB:A0A087WSZ2}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Repeat {ECO:0000256|ARBA:ARBA00022737}. 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 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 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 //