NEBL_MOUSE
ID NEBL_MOUSE Reviewed; 452 AA.
AC Q0II04;
DT 13-JUN-2012, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 1.
DT 03-AUG-2022, entry version 75.
DE RecName: Full=Nebulette;
DE AltName: Full=Actin-binding Z-disk protein;
GN Name=Nebl; Synonyms=Lnebl;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Heart;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
CC -!- FUNCTION: Binds to actin and plays an important role in the assembly of
CC the Z-disk. May functionally link sarcomeric actin to the desmin
CC intermediate filaments in the heart muscle sarcomeres. Isoform 2 might
CC play a role in the assembly of focal adhesion (By similarity).
CC {ECO:0000250|UniProtKB:O76041}.
CC -!- SUBUNIT: Interacts (via nebulin repeats 1-5) with DESM (via rod
CC region). {ECO:0000250|UniProtKB:O76041}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O76041}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Comment=Additional isoforms exist.;
CC Name=1;
CC IsoId=Q0II04-1; Sequence=Displayed;
CC Name=2; Synonyms=LIM-Nebulette, LIM-NBEL, LNBEL;
CC IsoId=Q9DC07-1; Sequence=External;
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DR EMBL; AL845498; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL935297; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL954131; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL772218; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC122879; AAI22880.1; -; mRNA.
DR AlphaFoldDB; Q0II04; -.
DR STRING; 10090.ENSMUSP00000122024; -.
DR jPOST; Q0II04; -.
DR PRIDE; Q0II04; -.
DR ProteomicsDB; 253051; -. [Q0II04-1]
DR Antibodypedia; 2823; 82 antibodies from 18 providers.
DR Ensembl; ENSMUST00000132418; ENSMUSP00000122024; ENSMUSG00000053702. [Q0II04-1]
DR UCSC; uc008ilf.1; mouse. [Q0II04-1]
DR MGI; MGI:1921353; Nebl.
DR VEuPathDB; HostDB:ENSMUSG00000053702; -.
DR eggNOG; KOG1702; Eukaryota.
DR GeneTree; ENSGT00940000156390; -.
DR HOGENOM; CLU_027047_0_0_1; -.
DR InParanoid; Q0II04; -.
DR TreeFam; TF319104; -.
DR ChiTaRS; Nebl; mouse.
DR Proteomes; UP000000589; Chromosome 2.
DR RNAct; Q0II04; protein.
DR Bgee; ENSMUSG00000053702; Expressed in interventricular septum and 195 other tissues.
DR ExpressionAtlas; Q0II04; baseline and differential.
DR GO; GO:0001725; C:stress fiber; ISO:MGI.
DR GO; GO:0030018; C:Z disc; ISO:MGI.
DR GO; GO:0051015; F:actin filament binding; ISO:MGI.
DR GO; GO:0008092; F:cytoskeletal protein binding; ISO:MGI.
DR GO; GO:0031005; F:filamin binding; ISO:MGI.
DR GO; GO:0005523; F:tropomyosin binding; ISO:MGI.
DR GO; GO:0071691; P:cardiac muscle thin filament assembly; ISO:MGI.
DR InterPro; IPR000900; Nebulin_repeat.
DR Pfam; PF00880; Nebulin; 3.
DR SMART; SM00227; NEBU; 12.
DR PROSITE; PS51216; NEBULIN; 12.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; Cytoplasm; Reference proteome; Repeat.
FT CHAIN 1..452
FT /note="Nebulette"
FT /id="PRO_0000417584"
FT REPEAT 29..63
FT /note="Nebulin 1"
FT REPEAT 64..98
FT /note="Nebulin 2"
FT REPEAT 101..135
FT /note="Nebulin 3"
FT REPEAT 138..172
FT /note="Nebulin 4"
FT REPEAT 173..199
FT /note="Nebulin 5"
FT REPEAT 206..240
FT /note="Nebulin 6"
FT REPEAT 263..278
FT /note="Nebulin 7"
FT REPEAT 279..313
FT /note="Nebulin 8"
FT REPEAT 315..349
FT /note="Nebulin 9"
FT REPEAT 352..386
FT /note="Nebulin 10"
FT REPEAT 389..423
FT /note="Nebulin 11"
FT REPEAT 426..452
FT /note="Nebulin 12"
FT REGION 1..26
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 452 AA; 52201 MW; D3E946D0FE6EA283 CRC64;
MKVPVSGDVK EETEEENVEQ EENQEAKVSL KPVIEDLSME LARKCTELIS DIHYKEEYKK
SKDKCTFVTD TPMLNHVKNI GAFISEAKYK GTIKADLSNC LYKDMPATID SVFAREVSQL
QSEVAYKQKH EAEKGFSDYT HMKEPPEVRR AMEVNRHQSN ISYRKDMQGT HTYTAELDRP
DIKKATQISK IISDAEYKKG QGIVNKEPSV IGRPDFEHAV GASKLSSQVK YKEKFDNEMK
EKSHHYNPLG SAFFRQHQFA AVLASDWEYK RDFEENKGLY HFDAEAPEHL HHKGNATLQS
QVKYREEYEK NKGKSMLEFV ETPSYQSSKE AQKMQSEKVY KEDFEKEIKG RSSLDLDKTP
AFLHVKHITN LMREKEYKKD LENEIKGKGM ELSSEVLDIQ RAKRASEMAS EKDYKRDLET
EIKGKGMQVS TDTLDVQRAK RASEMASQVR MV