NRAP_HUMAN
ID NRAP_HUMAN Reviewed; 1730 AA.
AC Q86VF7; O15500; Q5VWI3; Q5VWI4; Q6MZK3; Q6N026; Q6N059; Q6NSH8; Q6PDB0;
AC Q719H6; Q86TC5; Q86TD6; Q86TE6; Q86VF6; Q8N3R6; Q8N8F9; Q8TCH0; Q96MG4;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 150.
DE RecName: Full=Nebulin-related-anchoring protein;
DE Short=N-RAP;
GN Name=NRAP {ECO:0000312|HGNC:HGNC:7988};
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;
RN [1] {ECO:0000305, ECO:0000312|EMBL:AAO47073.1}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND VARIANT VAL-1183.
RX PubMed=12789664; DOI=10.1002/cm.10123;
RA Mohiddin S.A., Lu S., Cardoso J.-P., Carroll S., Jha S., Horowits R.,
RA Fananapazir L.;
RT "Genomic organization, alternative splicing, and expression of human and
RT mouse N-RAP, a nebulin-related LIM protein of striated muscle.";
RL Cell Motil. Cytoskeleton 55:200-212(2003).
RN [2] {ECO:0000305, ECO:0000312|EMBL:AAL99185.2}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), AND VARIANTS ALA-208; THR-344;
RP ARG-360 AND VAL-674.
RC TISSUE=Skeletal muscle {ECO:0000312|EMBL:AAL99185.2};
RA Yuan H.F., Wang X., Wang D.M., Li H.M., Feng K., Bai C.X., Zhang R.,
RA Chen L., Li Y.H., Gao Y.H., Zhen M., Yue W., Xie C., Xie X.Y., Niu L.L.,
RA Gao W.J., Zhang J., Cao H., Pei X.T.;
RT "Human Nrap, a novel gene which interact with actin.";
RL Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ALA-208;
RP CYS-249; THR-344; ARG-360; LEU-490; CYS-884; VAL-1112; VAL-1183; PRO-1531
RP AND CYS-1566.
RC TISSUE=Skeletal muscle;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4] {ECO:0000312|EMBL:AL390197}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-490.
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [5] {ECO:0000305, ECO:0000312|EMBL:BAB71328.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-580 (ISOFORMS 1/2), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1311-1730 (ISOFORM 1), AND VARIANTS ALA-208;
RP THR-344 AND ARG-360.
RC TISSUE=Skeletal muscle {ECO:0000312|EMBL:BAB71328.1};
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6] {ECO:0000305, ECO:0000312|EMBL:AAH70130.1}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-270 (ISOFORM 1), AND VARIANT
RP ALA-208.
RC TISSUE=Skeletal muscle {ECO:0000312|EMBL:AAH70130.1};
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 [7] {ECO:0000305, ECO:0000312|EMBL:AAC51786.1}
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1004-1080 (ISOFORM 1).
RX PubMed=9339382; DOI=10.1006/geno.1997.4917;
RA Luo G., Leroy E., Kozak C.A., Polymeropoulos M.H., Horowits R.;
RT "Mapping of the gene (NRAP) encoding N-RAP in the mouse and human
RT genomes.";
RL Genomics 45:229-232(1997).
RN [8] {ECO:0000305, ECO:0000312|EMBL:AAL99185.2}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1314-1730 (ISOFORM 1).
RA Zhang D.L., Cai J.J., Ma D.L.;
RT "Cloning and characterization of a novel human gene encoding a protein of
RT 394 amino acids with significant motif of nebulin signature IV and nebulin
RT repeat.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP INTERACTION WITH CSRP3.
RX PubMed=15205937; DOI=10.1007/s00441-004-0873-y;
RA Gehmlich K., Geier C., Osterziel K.J., Van der Ven P.F., Fuerst D.O.;
RT "Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and
RT alpha-actinin and their implication for hypertrophic cardiomyopathy.";
RL Cell Tissue Res. 317:129-136(2004).
CC -!- FUNCTION: May be involved in anchoring the terminal actin filaments in
CC the myofibril to the membrane and in transmitting tension from the
CC myofibrils to the extracellular matrix. {ECO:0000250|UniProtKB:Q80XB4}.
CC -!- SUBUNIT: Interacts with actin, alpha-actinin, KLHL41, TLN1 and VCL.
CC Interacts with CSRP3. {ECO:0000250, ECO:0000269|PubMed:15205937}.
CC -!- INTERACTION:
CC Q86VF7; P35609: ACTN2; NbExp=2; IntAct=EBI-5660292, EBI-77797;
CC Q86VF7; P50461: CSRP3; NbExp=2; IntAct=EBI-5660292, EBI-5658719;
CC -!- SUBCELLULAR LOCATION: Note=Localized at the myotendinous junction in
CC skeletal muscle and at the intercalated disk in cardiac muscle.
CC {ECO:0000269|PubMed:12789664}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1 {ECO:0000269|PubMed:12789664};
CC IsoId=Q86VF7-1; Sequence=Displayed;
CC Name=2 {ECO:0000269|PubMed:15164054};
CC IsoId=Q86VF7-2; Sequence=VSP_052166;
CC Name=3 {ECO:0000269|PubMed:15164054};
CC IsoId=Q86VF7-3; Sequence=VSP_052165, VSP_052166;
CC Name=4 {ECO:0000269|PubMed:12789664, ECO:0000269|Ref.2};
CC IsoId=Q86VF7-4; Sequence=VSP_052165;
CC -!- TISSUE SPECIFICITY: Expressed in cardiac and skeletal muscle.
CC {ECO:0000269|PubMed:12789664}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH58825.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAH70130.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAQ09536.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAC04884.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AY177620; AAO47073.1; -; mRNA.
DR EMBL; AY177621; AAO47074.1; -; mRNA.
DR EMBL; AY081943; AAL99185.2; -; mRNA.
DR EMBL; AL831980; CAD89899.1; -; mRNA.
DR EMBL; AL832025; CAD89910.1; -; mRNA.
DR EMBL; AL832330; CAD38623.1; -; mRNA.
DR EMBL; AL832457; CAD89998.1; -; mRNA.
DR EMBL; BX640682; CAE45811.1; -; mRNA.
DR EMBL; BX640730; CAE45846.1; -; mRNA.
DR EMBL; BX641052; CAE46027.1; -; mRNA.
DR EMBL; AL390197; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK056969; BAB71328.1; -; mRNA.
DR EMBL; AK096886; BAC04884.1; ALT_INIT; mRNA.
DR EMBL; BC058825; AAH58825.1; ALT_SEQ; mRNA.
DR EMBL; BC070130; AAH70130.1; ALT_SEQ; mRNA.
DR EMBL; U96486; AAC51786.1; -; Genomic_DNA.
DR EMBL; AF542553; AAQ09536.1; ALT_INIT; mRNA.
DR CCDS; CCDS7578.1; -. [Q86VF7-4]
DR CCDS; CCDS7579.1; -. [Q86VF7-1]
DR RefSeq; NP_001248392.1; NM_001261463.1.
DR RefSeq; NP_006166.3; NM_006175.4. [Q86VF7-4]
DR RefSeq; NP_932326.2; NM_198060.3. [Q86VF7-1]
DR AlphaFoldDB; Q86VF7; -.
DR SMR; Q86VF7; -.
DR BioGRID; 110951; 7.
DR IntAct; Q86VF7; 4.
DR STRING; 9606.ENSP00000358365; -.
DR iPTMnet; Q86VF7; -.
DR PhosphoSitePlus; Q86VF7; -.
DR SwissPalm; Q86VF7; -.
DR BioMuta; NRAP; -.
DR DMDM; 115502505; -.
DR EPD; Q86VF7; -.
DR jPOST; Q86VF7; -.
DR MassIVE; Q86VF7; -.
DR PaxDb; Q86VF7; -.
DR PeptideAtlas; Q86VF7; -.
DR PRIDE; Q86VF7; -.
DR ProteomicsDB; 70004; -. [Q86VF7-1]
DR ProteomicsDB; 70005; -. [Q86VF7-2]
DR ProteomicsDB; 70006; -. [Q86VF7-3]
DR ProteomicsDB; 70007; -. [Q86VF7-4]
DR Antibodypedia; 51692; 78 antibodies from 18 providers.
DR DNASU; 4892; -.
DR Ensembl; ENST00000359988.4; ENSP00000353078.3; ENSG00000197893.14. [Q86VF7-1]
DR Ensembl; ENST00000360478.7; ENSP00000353666.3; ENSG00000197893.14. [Q86VF7-4]
DR Ensembl; ENST00000369360.7; ENSP00000358367.3; ENSG00000197893.14. [Q86VF7-3]
DR GeneID; 4892; -.
DR KEGG; hsa:4892; -.
DR MANE-Select; ENST00000359988.4; ENSP00000353078.3; NM_198060.4; NP_932326.2.
DR UCSC; uc001laj.5; human. [Q86VF7-1]
DR CTD; 4892; -.
DR DisGeNET; 4892; -.
DR GeneCards; NRAP; -.
DR HGNC; HGNC:7988; NRAP.
DR HPA; ENSG00000197893; Group enriched (skeletal muscle, tongue).
DR MIM; 602873; gene.
DR neXtProt; NX_Q86VF7; -.
DR OpenTargets; ENSG00000197893; -.
DR PharmGKB; PA31767; -.
DR VEuPathDB; HostDB:ENSG00000197893; -.
DR eggNOG; KOG1702; Eukaryota.
DR GeneTree; ENSGT00940000158418; -.
DR HOGENOM; CLU_003010_1_0_1; -.
DR InParanoid; Q86VF7; -.
DR OMA; NKGYSMN; -.
DR OrthoDB; 1549538at2759; -.
DR PhylomeDB; Q86VF7; -.
DR TreeFam; TF313758; -.
DR PathwayCommons; Q86VF7; -.
DR SignaLink; Q86VF7; -.
DR BioGRID-ORCS; 4892; 13 hits in 1068 CRISPR screens.
DR ChiTaRS; NRAP; human.
DR GeneWiki; NRAP; -.
DR GenomeRNAi; 4892; -.
DR Pharos; Q86VF7; Tbio.
DR PRO; PR:Q86VF7; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q86VF7; protein.
DR Bgee; ENSG00000197893; Expressed in skeletal muscle tissue of rectus abdominis and 105 other tissues.
DR ExpressionAtlas; Q86VF7; baseline and differential.
DR Genevisible; Q86VF7; HS.
DR GO; GO:0005916; C:fascia adherens; ISS:UniProtKB.
DR GO; GO:0005927; C:muscle tendon junction; ISS:UniProtKB.
DR GO; GO:0030018; C:Z disc; IBA:GO_Central.
DR GO; GO:0003779; F:actin binding; ISS:UniProtKB.
DR GO; GO:0051015; F:actin filament binding; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0051371; F:muscle alpha-actinin binding; ISS:UniProtKB.
DR GO; GO:0017166; F:vinculin binding; IEA:Ensembl.
DR GO; GO:0071691; P:cardiac muscle thin filament assembly; IBA:GO_Central.
DR InterPro; IPR013998; Nebulin-like.
DR InterPro; IPR000900; Nebulin_repeat.
DR InterPro; IPR001781; Znf_LIM.
DR Pfam; PF00412; LIM; 1.
DR Pfam; PF00880; Nebulin; 9.
DR PRINTS; PR00510; NEBULIN.
DR SMART; SM00132; LIM; 1.
DR SMART; SM00227; NEBU; 41.
DR PROSITE; PS00478; LIM_DOMAIN_1; 1.
DR PROSITE; PS50023; LIM_DOMAIN_2; 1.
DR PROSITE; PS51216; NEBULIN; 44.
PE 1: Evidence at protein level;
KW Actin-binding; Alternative splicing; LIM domain; Metal-binding;
KW Phosphoprotein; Reference proteome; Repeat; Zinc.
FT CHAIN 1..1730
FT /note="Nebulin-related-anchoring protein"
FT /id="PRO_0000250425"
FT DOMAIN 4..64
FT /note="LIM zinc-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125"
FT REPEAT 63..97
FT /note="Nebulin 1"
FT /evidence="ECO:0000255"
FT REPEAT 156..166
FT /note="Nebulin 2"
FT /evidence="ECO:0000255"
FT REPEAT 175..202
FT /note="Nebulin 3"
FT /evidence="ECO:0000255"
FT REPEAT 203..237
FT /note="Nebulin 4"
FT /evidence="ECO:0000255"
FT REPEAT 246..273
FT /note="Nebulin 5"
FT /evidence="ECO:0000255"
FT REPEAT 298..307
FT /note="Nebulin 6"
FT /evidence="ECO:0000255"
FT REPEAT 316..343
FT /note="Nebulin 7"
FT /evidence="ECO:0000255"
FT REPEAT 348..382
FT /note="Nebulin 8"
FT /evidence="ECO:0000255"
FT REPEAT 389..417
FT /note="Nebulin 9"
FT /evidence="ECO:0000255"
FT REPEAT 419..453
FT /note="Nebulin 10"
FT /evidence="ECO:0000255"
FT REPEAT 487..521
FT /note="Nebulin 11"
FT /evidence="ECO:0000255"
FT REPEAT 522..556
FT /note="Nebulin 12"
FT /evidence="ECO:0000255"
FT REPEAT 558..592
FT /note="Nebulin 13"
FT /evidence="ECO:0000255"
FT REPEAT 602..626
FT /note="Nebulin 14"
FT /evidence="ECO:0000255"
FT REPEAT 627..661
FT /note="Nebulin 15"
FT /evidence="ECO:0000255"
FT REPEAT 662..692
FT /note="Nebulin 16"
FT /evidence="ECO:0000255"
FT REPEAT 702..724
FT /note="Nebulin 17"
FT /evidence="ECO:0000255"
FT REPEAT 726..760
FT /note="Nebulin 18"
FT /evidence="ECO:0000255"
FT REPEAT 761..795
FT /note="Nebulin 19"
FT /evidence="ECO:0000255"
FT REPEAT 797..831
FT /note="Nebulin 20"
FT /evidence="ECO:0000255"
FT REPEAT 844..869
FT /note="Nebulin 21"
FT /evidence="ECO:0000255"
FT REPEAT 870..896
FT /note="Nebulin 22"
FT /evidence="ECO:0000255"
FT REPEAT 901..935
FT /note="Nebulin 23"
FT /evidence="ECO:0000255"
FT REPEAT 945..963
FT /note="Nebulin 24"
FT /evidence="ECO:0000255"
FT REPEAT 969..1003
FT /note="Nebulin 25"
FT /evidence="ECO:0000255"
FT REPEAT 1004..1038
FT /note="Nebulin 26"
FT /evidence="ECO:0000255"
FT REPEAT 1040..1074
FT /note="Nebulin 27"
FT /evidence="ECO:0000255"
FT REPEAT 1078..1112
FT /note="Nebulin 28"
FT /evidence="ECO:0000255"
FT REPEAT 1113..1139
FT /note="Nebulin 29"
FT /evidence="ECO:0000255"
FT REPEAT 1144..1178
FT /note="Nebulin 30"
FT /evidence="ECO:0000255"
FT REPEAT 1183..1206
FT /note="Nebulin 31"
FT /evidence="ECO:0000255"
FT REPEAT 1212..1246
FT /note="Nebulin 32"
FT /evidence="ECO:0000255"
FT REPEAT 1247..1281
FT /note="Nebulin 33"
FT /evidence="ECO:0000255"
FT REPEAT 1283..1317
FT /note="Nebulin 34"
FT /evidence="ECO:0000255"
FT REPEAT 1321..1355
FT /note="Nebulin 35"
FT /evidence="ECO:0000255"
FT REPEAT 1356..1390
FT /note="Nebulin 36"
FT /evidence="ECO:0000255"
FT REPEAT 1391..1421
FT /note="Nebulin 37"
FT /evidence="ECO:0000255"
FT REPEAT 1429..1449
FT /note="Nebulin 38"
FT /evidence="ECO:0000255"
FT REPEAT 1455..1481
FT /note="Nebulin 39"
FT /evidence="ECO:0000255"
FT REPEAT 1490..1524
FT /note="Nebulin 40"
FT /evidence="ECO:0000255"
FT REPEAT 1526..1560
FT /note="Nebulin 41"
FT /evidence="ECO:0000255"
FT REPEAT 1564..1598
FT /note="Nebulin 42"
FT /evidence="ECO:0000255"
FT REPEAT 1599..1626
FT /note="Nebulin 43"
FT /evidence="ECO:0000255"
FT REPEAT 1640..1664
FT /note="Nebulin 44"
FT /evidence="ECO:0000255"
FT REGION 1595..1620
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1599..1620
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1081
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80XB4"
FT VAR_SEQ 371..405
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:12789664,
FT ECO:0000303|PubMed:15164054, ECO:0000303|Ref.2"
FT /id="VSP_052165"
FT VAR_SEQ 580
FT /note="N -> NVHLLLSLK (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:15164054"
FT /id="VSP_052166"
FT VARIANT 132
FT /note="A -> S (in dbSNP:rs34700024)"
FT /id="VAR_034073"
FT VARIANT 186
FT /note="Q -> E (in dbSNP:rs35049661)"
FT /id="VAR_034074"
FT VARIANT 208
FT /note="V -> A (in dbSNP:rs2154028)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.2"
FT /id="VAR_027556"
FT VARIANT 249
FT /note="Y -> C (in dbSNP:rs2185913)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_027557"
FT VARIANT 282
FT /note="A -> T (in dbSNP:rs2275799)"
FT /id="VAR_034075"
FT VARIANT 344
FT /note="A -> T (in dbSNP:rs3121478)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2"
FT /id="VAR_027558"
FT VARIANT 360
FT /note="Q -> R (in dbSNP:rs3127106)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.2"
FT /id="VAR_027559"
FT VARIANT 484
FT /note="D -> N (in dbSNP:rs11196400)"
FT /id="VAR_050160"
FT VARIANT 490
FT /note="S -> L (in dbSNP:rs3189030)"
FT /evidence="ECO:0000269|PubMed:15164054,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_034076"
FT VARIANT 519
FT /note="N -> I (in dbSNP:rs2270182)"
FT /id="VAR_034077"
FT VARIANT 647
FT /note="A -> S (in dbSNP:rs2286734)"
FT /id="VAR_050161"
FT VARIANT 674
FT /note="A -> V (in dbSNP:rs2286735)"
FT /evidence="ECO:0000269|Ref.2"
FT /id="VAR_034078"
FT VARIANT 884
FT /note="R -> C (in dbSNP:rs868738)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_034079"
FT VARIANT 1022
FT /note="M -> V (in dbSNP:rs34523503)"
FT /id="VAR_061357"
FT VARIANT 1112
FT /note="A -> V (in dbSNP:rs1539587)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_034080"
FT VARIANT 1183
FT /note="I -> V (in dbSNP:rs10749138)"
FT /evidence="ECO:0000269|PubMed:12789664,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_050162"
FT VARIANT 1531
FT /note="L -> P (in dbSNP:rs11196389)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_027560"
FT VARIANT 1566
FT /note="R -> C (in dbSNP:rs1885434)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_050163"
FT VARIANT 1569
FT /note="D -> N (in dbSNP:rs11575798)"
FT /id="VAR_050164"
FT VARIANT 1643
FT /note="A -> S (in dbSNP:rs11575797)"
FT /id="VAR_050165"
FT CONFLICT 224
FT /note="S -> N (in Ref. 3; CAD38623)"
FT /evidence="ECO:0000305"
FT CONFLICT 261
FT /note="D -> G (in Ref. 3; CAD89910)"
FT /evidence="ECO:0000305"
FT CONFLICT 338
FT /note="F -> S (in Ref. 3; CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 395
FT /note="N -> D (in Ref. 3; CAD38623)"
FT /evidence="ECO:0000305"
FT CONFLICT 488
FT /note="Y -> H (in Ref. 3; CAE45811)"
FT /evidence="ECO:0000305"
FT CONFLICT 545
FT /note="V -> A (in Ref. 5; BAB71328)"
FT /evidence="ECO:0000305"
FT CONFLICT 658
FT /note="E -> G (in Ref. 3; CAD89910)"
FT /evidence="ECO:0000305"
FT CONFLICT 862
FT /note="K -> E (in Ref. 3; CAD89910/CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 1210
FT /note="S -> P (in Ref. 3; CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 1236
FT /note="L -> F (in Ref. 3; CAD89910)"
FT /evidence="ECO:0000305"
FT CONFLICT 1260
FT /note="A -> V (in Ref. 3; CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 1348
FT /note="R -> K (in Ref. 3; CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 1357
FT /note="F -> L (in Ref. 3; CAD89899)"
FT /evidence="ECO:0000305"
FT CONFLICT 1414
FT /note="S -> L (in Ref. 3; CAE45846)"
FT /evidence="ECO:0000305"
FT CONFLICT 1563
FT /note="I -> V (in Ref. 3; CAD89910)"
FT /evidence="ECO:0000305"
FT CONFLICT 1607
FT /note="P -> H (in Ref. 3; CAD89910)"
FT /evidence="ECO:0000305"
FT CONFLICT 1672
FT /note="S -> P (in Ref. 3; CAD38623)"
FT /evidence="ECO:0000305"
FT CONFLICT 1696
FT /note="Y -> YQ (in Ref. 3; CAD89910/CAD89998 and 4)"
FT /evidence="ECO:0000305"
FT CONFLICT 1697
FT /note="R -> Q (in Ref. 3; CAD89899)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1730 AA; 197074 MW; 2F6AD0C7C07EC797 CRC64;
MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE VEYKKDLESS RGHSINYCET PQFRNVSKIS KFTSDNKYKE NYQNHMRGRY
EGVGMDRRTL HAMKVGSLAS NVAYKADYKH DIVDYNYPAT LTPSYQTAMK LVPLKDANYR
QSIDKLKYSS VTDTPQIVQA KINAQQLSHV NYRADYEKNK LNYTLPQDVP QLVKAKTNAK
LFSEVKYKEG WEKTKGKGFE MKLDAMSLLA AKASGELASN IKYKEEYEKT KGKAMGTADS
RLLHSLQIAK MSSEVEYKKG FEESKTRFHL PMDMVNIRHA KKAQTLASDL DYRKKLHEYT
VLPEDMKTQW AKKAYGLQSE LQYKADLAWM KGVGWLTEGS LNLEQAKKAG QLVSEKNYRQ
RVDELKFTSV TDSSQMEHAK KSQELQSGVA YKAGNEQSVH QYTISKDEPL FLQARANAAN
LSEKLYKSSW ENQKAKGFEL RLDSLTFLAA KAKRDLASEV KYKEDYERSR GKLIGAKDVQ
GDSQMSHSLQ MSKLQSELEY KKGFEDTKSQ CHVSLDMVHL VHARKAQHLA TDVGYKTAEH
HFTALPTDMK VEWAKKAYGL QSDNQYRADV KWMKGMGWVA TGSLNVEQAK KAGELISEKK
YRQHPDALKF TSIKDTPEMV QARISYTQAV DRLYREQGEN IKHHYTPTAD LPEVLLAKLN
AMNISETRYK ESWSKLRDGG YKLRLDALPF QAAKASGEII SDYKYKEAFE KMKGQMLGSR
SLEDDISLAH SVYATSLQSD VNYKKGFEHS KAQFHLPLDM AALVHAKKAQ TLASNQDYKH
PLPQYTSLAE DLRLSCAKKA HKLQSENLYR SDLNFMRGVA CVIPGTLEIE GRKKASELIS
ESKYRQHPHS FKYTAVTDTP NLLHAKFSNQ ITNERLYKAA GEDARHEYTM TLGLPEFIRA
KTNAANLSDA RYKESWRNLR AQGYKLTIEA LPFQAARASG DIASDFLYRH DFVKERGKLI
GPQSVRDDPR IQHCRRMGQL QSELQYRRGA TSSQAQFHLP MDMVHLVHAK NAQALASDHD
YRTQYHKFTA LPEDLKMAWA KKAHALQSEL RYKSDLIGMK GIGWLALRSP QMESAKKAGE
LISETKYRKK PDSIKFTTVV DSPDLVHAKN SYMHCNERMY RSGDAESLHR YTLIPDHPDF
TRARLNALHL SDKVYRNSWE QTRAGSYDFR LDAIPFQTAR ASREIASDFR YKEAFLRDRG
LQIGYRSVDD DPRMKHFLNV GRLQSDNEYK KDFAKSRSQF HSSTDQPGLL QAKRSQQLAS
DVHYRQPLPQ PTCDPEQLGL RHAQKAHQLQ SDVKYKSDLN LTRGVGWTPP GSYKVEMARR
AAELANARGL GLQGAYRGAE AVEAGDHQSG EVNPDATEIL HVKKKKALLL
