ID F8WAI0_HUMAN Unreviewed; 975 AA. AC F8WAI0; DT 21-SEP-2011, integrated into UniProtKB/TrEMBL. DT 21-SEP-2011, sequence version 1. DT 02-OCT-2024, entry version 91. DE SubName: Full=Spectrin repeat containing nuclear envelope protein 1 {ECO:0000313|Ensembl:ENSP00000346701.4}; GN Name=SYNE1 {ECO:0000313|Ensembl:ENSP00000346701.4}; 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:ENSP00000346701.4, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000346701.4} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=11237011; DOI=10.1038/35057062; RG International Human Genome Sequencing Consortium; RA Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C., Baldwin J., RA Devon K., Dewar K., Doyle M., FitzHugh W., Funke R., Gage D., Harris K., RA Heaford A., Howland J., Kann L., Lehoczky J., LeVine R., McEwan P., RA McKernan K., Meldrim J., Mesirov J.P., Miranda C., Morris W., Naylor J., RA Raymond C., Rosetti M., Santos R., Sheridan A., Sougnez C., RA Stange-Thomann N., Stojanovic N., Subramanian A., Wyman D., Rogers J., RA Sulston J., Ainscough R., Beck S., Bentley D., Burton J., Clee C., RA Carter N., Coulson A., Deadman R., Deloukas P., Dunham A., Dunham I., RA Durbin R., French L., Grafham D., Gregory S., Hubbard T., Humphray S., RA Hunt A., Jones M., Lloyd C., McMurray A., Matthews L., Mercer S., Milne S., RA Mullikin J.C., Mungall A., Plumb R., Ross M., Shownkeen R., Sims S., RA Waterston R.H., Wilson R.K., Hillier L.W., McPherson J.D., Marra M.A., RA Mardis E.R., Fulton L.A., Chinwalla A.T., Pepin K.H., Gish W.R., RA Chissoe S.L., Wendl M.C., Delehaunty K.D., Miner T.L., Delehaunty A., RA Kramer J.B., Cook L.L., Fulton R.S., Johnson D.L., Minx P.J., Clifton S.W., RA Hawkins T., Branscomb E., Predki P., Richardson P., Wenning S., Slezak T., RA Doggett N., Cheng J.F., Olsen A., Lucas S., Elkin C., Uberbacher E., RA Frazier M., Gibbs R.A., Muzny D.M., Scherer S.E., Bouck J.B., RA Sodergren E.J., Worley K.C., Rives C.M., Gorrell J.H., Metzker M.L., RA Naylor S.L., Kucherlapati R.S., Nelson D.L., Weinstock G.M., Sakaki Y., RA Fujiyama A., Hattori M., Yada T., Toyoda A., Itoh T., Kawagoe C., RA Watanabe H., Totoki Y., Taylor T., Weissenbach J., Heilig R., Saurin W., RA Artiguenave F., Brottier P., Bruls T., Pelletier E., Robert C., Wincker P., RA Smith D.R., Doucette-Stamm L., Rubenfield M., Weinstock K., Lee H.M., RA Dubois J., Rosenthal A., Platzer M., Nyakatura G., Taudien S., Rump A., RA Yang H., Yu J., Wang J., Huang G., Gu J., Hood L., Rowen L., Madan A., RA Qin S., Davis R.W., Federspiel N.A., Abola A.P., Proctor M.J., Myers R.M., RA Schmutz J., Dickson M., Grimwood J., Cox D.R., Olson M.V., Kaul R., RA Raymond C., Shimizu N., Kawasaki K., Minoshima S., Evans G.A., RA Athanasiou M., Schultz R., Roe B.A., Chen F., Pan H., Ramser J., RA Lehrach H., Reinhardt R., McCombie W.R., de la Bastide M., Dedhia N., RA Blocker H., Hornischer K., Nordsiek G., Agarwala R., Aravind L., RA Bailey J.A., Bateman A., Batzoglou S., Birney E., Bork P., Brown D.G., RA Burge C.B., Cerutti L., Chen H.C., Church D., Clamp M., Copley R.R., RA Doerks T., Eddy S.R., Eichler E.E., Furey T.S., Galagan J., Gilbert J.G., RA Harmon C., Hayashizaki Y., Haussler D., Hermjakob H., Hokamp K., Jang W., RA Johnson L.S., Jones T.A., Kasif S., Kaspryzk A., Kennedy S., Kent W.J., RA Kitts P., Koonin E.V., Korf I., Kulp D., Lancet D., Lowe T.M., RA McLysaght A., Mikkelsen T., Moran J.V., Mulder N., Pollara V.J., RA Ponting C.P., Schuler G., Schultz J., Slater G., Smit A.F., Stupka E., RA Szustakowski J., Thierry-Mieg D., Thierry-Mieg J., Wagner L., Wallis J., RA Wheeler R., Williams A., Wolf Y.I., Wolfe K.H., Yang S.P., Yeh R.F., RA Collins F., Guyer M.S., Peterson J., Felsenfeld A., Wetterstrand K.A., RA Patrinos A., Morgan M.J., de Jong P., Catanese J.J., Osoegawa K., RA Shizuya H., Choi S., Chen Y.J.; RT "Initial sequencing and analysis of the human genome."; RL Nature 409:860-921(2001). RN [2] {ECO:0000313|Ensembl:ENSP00000346701.4, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=14574404; DOI=10.1038/nature02055; RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G., RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., RA Andrews T.D., Ashwell R.I., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., RA Beasley O., Bird C.P., Blakey S., Bray-Allen S., Brook J., Brown A.J., RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., RA Griffiths M., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., RA Moore M.J., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., RA Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., RA Phillimore B., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., RA Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., RA Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., RA Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., RA Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., RA Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., RA Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., RA Durbin R., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.; RT "The DNA sequence and analysis of human chromosome 6."; RL Nature 425:805-811(2003). RN [3] {ECO:0000313|Ensembl:ENSP00000346701.4} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15496913; DOI=10.1038/nature03001; RG International Human Genome Sequencing Consortium; RT "Finishing the euchromatic sequence of the human genome."; RL Nature 431:931-945(2004). RN [4] {ECO:0007829|PubMed:17081983} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026; RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.; RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling RT networks."; RL Cell 127:635-648(2006). RN [5] {ECO:0007829|PubMed:24275569} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., RA Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver RT phosphoproteome."; RL J. Proteomics 96:253-262(2014). RN [6] {ECO:0000313|Ensembl:ENSP00000346701.4} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUN-2024) to UniProtKB. CC -!- SIMILARITY: Belongs to the nesprin family. CC {ECO:0000256|ARBA:ARBA00008619}. 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; AL049548; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL078582; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL136079; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL138832; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL357081; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL450401; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL589963; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL591507; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; KF458330; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR RefSeq; NP_001334631.1; NM_001347702.1. DR AlphaFoldDB; F8WAI0; -. DR SMR; F8WAI0; -. DR MassIVE; F8WAI0; -. DR PeptideAtlas; F8WAI0; -. DR ProteomicsDB; 30501; -. DR Antibodypedia; 19931; 198 antibodies from 27 providers. DR Ensembl; ENST00000354674.5; ENSP00000346701.4; ENSG00000131018.25. DR GeneID; 23345; -. DR UCSC; uc063shz.1; human. DR CTD; 23345; -. DR DisGeNET; 23345; -. DR HGNC; HGNC:17089; SYNE1. DR VEuPathDB; HostDB:ENSG00000131018; -. DR GeneTree; ENSGT00940000154481; -. DR HOGENOM; CLU_000034_0_1_1; -. DR OrthoDB; 5478539at2759; -. DR BioGRID-ORCS; 23345; 10 hits in 1150 CRISPR screens. DR ChiTaRS; SYNE1; human. DR Proteomes; UP000005640; Chromosome 6. DR Bgee; ENSG00000131018; Expressed in cerebellar hemisphere and 191 other cell types or tissues. DR ExpressionAtlas; F8WAI0; baseline and differential. DR GO; GO:0031965; C:nuclear membrane; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR CDD; cd00176; SPEC; 3. DR Gene3D; 1.20.58.60; -; 4. DR InterPro; IPR026696; AKAP6/CEP68. DR InterPro; IPR012315; KASH. DR InterPro; IPR018159; Spectrin/alpha-actinin. DR InterPro; IPR002017; Spectrin_repeat. DR PANTHER; PTHR14514:SF3; NESPRIN-1; 1. DR PANTHER; PTHR14514; PKA ANCHORING PROTEIN; 1. DR Pfam; PF10541; KASH; 1. DR Pfam; PF00435; Spectrin; 4. DR SMART; SM01249; KASH; 1. DR SMART; SM00150; SPEC; 4. DR SUPFAM; SSF46966; Spectrin repeat; 4. DR PROSITE; PS51049; KASH; 1. PE 1: Evidence at protein level; KW Membrane {ECO:0000256|ARBA:ARBA00023136, ECO:0000256|PROSITE- KW ProRule:PRU00385}; Nucleus {ECO:0000256|ARBA:ARBA00023242}; KW Phosphoprotein {ECO:0000256|ARBA:ARBA00022553}; KW Proteomics identification {ECO:0007829|PeptideAtlas:F8WAI0, KW ECO:0007829|ProteomicsDB:F8WAI0}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Transmembrane {ECO:0000256|ARBA:ARBA00022692, ECO:0000256|PROSITE- KW ProRule:PRU00385}; Transmembrane helix {ECO:0000256|ARBA:ARBA00022989}. FT TOPO_DOM 1..924 FT /note="Cytoplasmic" FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00385" FT TOPO_DOM 946..975 FT /note="Perinuclear space" FT /evidence="ECO:0000256|PROSITE-ProRule:PRU00385" FT DOMAIN 916..975 FT /note="KASH" FT /evidence="ECO:0000259|PROSITE:PS51049" FT REGION 401..436 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 849..912 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 402..422 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 849..909 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" SQ SEQUENCE 975 AA; 111386 MW; 29A7016391C0C3F0 CRC64; MVVAEDLSAL RMAEDSCVDA DLPDCNCDVT RVKKLKETLV AVQQLDKNMS SLRTWLAHIE SELAKPIVYD SCNSEEIQRK LNEQQELQRD IEKHSTGVAS VLNLCEVLLH DCDACATDAE CDSIQQATRN LDRRWRNICA MSMERRLKIE ETWRLWQKFL DDYSRFEDWL KSSERTAAFP SSSGVIYTVA KEELKKFEAF QRQVHECLTQ LELINKQYRR LARENRTDSA CSLKQMVHEG NQRWDNLQKR VTSILRRLKH FIGQREEFET ARDSILVWLT EMDLQLTNIE HFSECDVQAK IKQLKAFQQE ISLNHNKIEQ IIAQGEQLIE KSEPLDAAII EEELDELRRY CQEVFGRVER YHKKLIRLPL PDDEHDLSDR ELELEDSAAL SDLHWHDRSA DSLLSPQPSS NLSLSLAQPL RSERSGRDTP ASVDSIPLEW DHDYDLSRDL ESAMSRALPS EDEEGQDDKD FYLRGAVGLS DVMIPESPEA YVKLTENAIK NTSGDHSALE SQIRQLGKAL DDSRFQIQQT ENIIRSKTPT GPELDTSYKG YMKLLGECSS SIDSVKRLEH KLKEEEESLP GFVNLHSTET QTAGVIDRWE LLQAQALSKE LRMKQNLQKW QQFNSDLNSI WAWLGDTEEE LEQLQRLELS TDIQTIELQI KKLKELQKAV DHRKAIILSI NLCSPEFTQA DSKESRDLQD RLSQMNGRWD RVCSLLEEWR GLLQDALMQC QGFHEMSHGL LLMLENIDRR KNEIVPIDSN LDAEILQDHH KQLMQIKHEL LESQLRVASL QDMSCQLLVN AEGTDCLEAK EKVHVIGNRL KLLLKEVSRH IKELEKLLDV SSSQQDLSSW SSADELDTSG SVSPTSGRST PNRQKTPRGK CSLSQPGPSV SSPHSRSTKG GSDSSLSEPG PGRSGRGFLF RVLRAALPLQ LLLLLLIGLA CLVPMSEEDY SCALSNNFAR SFHPMLRYTN GPPPL //