ID   NBEL1_HUMAN             Reviewed;        2694 AA.
AC   Q6ZS30; A6NHD5; Q6Y876; Q6ZP36; Q6ZQY5; Q8N8R4; Q96Q30; Q96Q31;
DT   24-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT   15-JUN-2010, sequence version 3.
DT   07-APR-2021, entry version 149.
DE   RecName: Full=Neurobeachin-like protein 1;
DE   AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein;
DE   AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein;
GN   Name=NBEAL1; Synonyms=ALS2CR16, ALS2CR17;
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]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1-132 AND 2473-2694 (ISOFORM 2).
RX   PubMed=11586298; DOI=10.1038/ng1001-166;
RA   Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA   Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A.,
RA   Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr.,
RA   Scherer S.W., Rouleau G.A., Hayden M.R., Ikeda J.-E.;
RT   "A gene encoding a putative GTPase regulator is mutated in familial
RT   amyotrophic lateral sclerosis 2.";
RL   Nat. Genet. 29:166-173(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1268-2694 (ISOFORM 1), AND
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 81-366 AND 1692-2694 (ISOFORM 2).
RC   TISSUE=Brain, Lung, and Trachea;
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   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1588-2694 (ISOFORM 2), AND TISSUE
RP   SPECIFICITY.
RC   TISSUE=Fetal brain;
RX   PubMed=15193433; DOI=10.1016/j.molbrainres.2004.02.022;
RA   Chen J., Lu Y., Xu J., Huang Y., Cheng H., Hu G., Luo C., Lou M., Cao G.,
RA   Xie Y., Ying K.;
RT   "Identification and characterization of NBEAL1, a novel human neurobeachin-
RT   like 1 protein gene from fetal brain, which is up regulated in glioma.";
RL   Brain Res. Mol. Brain Res. 125:147-155(2004).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=2;
CC         IsoId=Q6ZS30-2; Sequence=Displayed;
CC       Name=1;
CC         IsoId=Q6ZS30-1; Sequence=VSP_039337, VSP_039338;
CC   -!- TISSUE SPECIFICITY: Highly expressed in brain, kidney, prostate and
CC       testis. Weakly expressed in ovary, small intestine, colon and
CC       peripheral blood leukocytes. May be correlative to several tumors, such
CC       as ovary serous adenocarcinoma and metastasis mammary gland carcinoma
CC       breast. {ECO:0000269|PubMed:15193433}.
CC   -!- SIMILARITY: Belongs to the WD repeat neurobeachin family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAO45288.1; Type=Frameshift; Evidence={ECO:0000305};
CC       Sequence=BAB69027.1; Type=Erroneous termination; Note=Extended C-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC85289.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC87125.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAC87543.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AC011737; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AB053318; BAB69026.1; -; mRNA.
DR   EMBL; AB053319; BAB69027.1; ALT_SEQ; mRNA.
DR   EMBL; AK127772; BAC87125.1; ALT_INIT; mRNA.
DR   EMBL; AK128636; BAC87543.1; ALT_INIT; mRNA.
DR   EMBL; AK130065; BAC85289.1; ALT_INIT; mRNA.
DR   EMBL; AY172970; AAO45288.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS46495.1; -. [Q6ZS30-2]
DR   RefSeq; NP_001107604.1; NM_001114132.1. [Q6ZS30-2]
DR   SMR; Q6ZS30; -.
DR   BioGRID; 122383; 19.
DR   IntAct; Q6ZS30; 16.
DR   STRING; 9606.ENSP00000399903; -.
DR   iPTMnet; Q6ZS30; -.
DR   PhosphoSitePlus; Q6ZS30; -.
DR   BioMuta; NBEAL1; -.
DR   DMDM; 298286908; -.
DR   EPD; Q6ZS30; -.
DR   jPOST; Q6ZS30; -.
DR   MassIVE; Q6ZS30; -.
DR   PaxDb; Q6ZS30; -.
DR   PeptideAtlas; Q6ZS30; -.
DR   PRIDE; Q6ZS30; -.
DR   ProteomicsDB; 68187; -. [Q6ZS30-2]
DR   ProteomicsDB; 68188; -. [Q6ZS30-1]
DR   Antibodypedia; 34160; 74 antibodies.
DR   DNASU; 65065; -.
DR   Ensembl; ENST00000449802; ENSP00000399903; ENSG00000144426. [Q6ZS30-2]
DR   GeneID; 65065; -.
DR   KEGG; hsa:65065; -.
DR   UCSC; uc002uzt.4; human. [Q6ZS30-2]
DR   CTD; 65065; -.
DR   DisGeNET; 65065; -.
DR   GeneCards; NBEAL1; -.
DR   HGNC; HGNC:20681; NBEAL1.
DR   HPA; ENSG00000144426; Low tissue specificity.
DR   MIM; 609816; gene.
DR   neXtProt; NX_Q6ZS30; -.
DR   OpenTargets; ENSG00000144426; -.
DR   PharmGKB; PA24740; -.
DR   VEuPathDB; HostDB:ENSG00000144426.18; -.
DR   eggNOG; KOG1787; Eukaryota.
DR   GeneTree; ENSGT00940000155041; -.
DR   HOGENOM; CLU_000218_0_0_1; -.
DR   InParanoid; Q6ZS30; -.
DR   OMA; RDMFLCS; -.
DR   OrthoDB; 101142at2759; -.
DR   PhylomeDB; Q6ZS30; -.
DR   TreeFam; TF323165; -.
DR   PathwayCommons; Q6ZS30; -.
DR   SignaLink; Q6ZS30; -.
DR   BioGRID-ORCS; 65065; 211 hits in 989 CRISPR screens.
DR   ChiTaRS; NBEAL1; human.
DR   GenomeRNAi; 65065; -.
DR   Pharos; Q6ZS30; Tdark.
DR   PRO; PR:Q6ZS30; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q6ZS30; protein.
DR   Bgee; ENSG00000144426; Expressed in colon and 202 other tissues.
DR   ExpressionAtlas; Q6ZS30; baseline and differential.
DR   Genevisible; Q6ZS30; HS.
DR   GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
DR   GO; GO:0008104; P:protein localization; IBA:GO_Central.
DR   CDD; cd06071; Beach; 1.
DR   CDD; cd01201; PH_BEACH; 1.
DR   Gene3D; 1.10.1540.10; -; 1.
DR   Gene3D; 2.130.10.10; -; 1.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR000409; BEACH_dom.
DR   InterPro; IPR036372; BEACH_dom_sf.
DR   InterPro; IPR013320; ConA-like_dom_sf.
DR   InterPro; IPR031570; DUF4704.
DR   InterPro; IPR023362; PH-BEACH_dom.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   InterPro; IPR001680; WD40_repeat.
DR   InterPro; IPR017986; WD40_repeat_dom.
DR   InterPro; IPR036322; WD40_repeat_dom_sf.
DR   Pfam; PF02138; Beach; 1.
DR   Pfam; PF15787; DUF4704; 1.
DR   Pfam; PF14844; PH_BEACH; 1.
DR   Pfam; PF00400; WD40; 1.
DR   SMART; SM01026; Beach; 1.
DR   SMART; SM00320; WD40; 3.
DR   SUPFAM; SSF48371; SSF48371; 1.
DR   SUPFAM; SSF49899; SSF49899; 1.
DR   SUPFAM; SSF50978; SSF50978; 1.
DR   SUPFAM; SSF81837; SSF81837; 1.
DR   PROSITE; PS50197; BEACH; 1.
DR   PROSITE; PS51783; PH_BEACH; 1.
DR   PROSITE; PS50082; WD_REPEATS_2; 1.
DR   PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Reference proteome; Repeat; WD repeat.
FT   CHAIN           1..2694
FT                   /note="Neurobeachin-like protein 1"
FT                   /id="PRO_0000051094"
FT   DOMAIN          1883..1980
FT                   /note="BEACH-type PH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU01119"
FT   DOMAIN          1992..2284
FT                   /note="BEACH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00026"
FT   REPEAT          2439..2478
FT                   /note="WD 1"
FT   REPEAT          2490..2531
FT                   /note="WD 2"
FT   VAR_SEQ         2279..2347
FT                   /note="Missing (in isoform 1)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_039337"
FT   VAR_SEQ         2522..2542
FT                   /note="Missing (in isoform 1)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_039338"
FT   CONFLICT        1763
FT                   /note="Q -> R (in Ref. 3; BAC87125)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        2330
FT                   /note="I -> V (in Ref. 3; BAC87543 and 4; AAO45288)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   2694 AA;  307237 MW;  B62684F310239FA9 CRC64;
     MASRERLFEL WMLYCTKKDP DYLKLWLDTF VSSYEQFLDV DFEKLPTRVD DMPPGISLLP
     DNILQVLRIQ LLQCVQKMAD GLEEQQQALS ILLVKFFIIL CRNLSNVEEI GTCSYINYVI
     TMTTLYIQQL KSKKKEKEMA DQTCIEEFVI HALAFCESLY DPYRNWRHRI SGRILSTVEK
     SRQKYKPASL TVEFVPFFYQ CFQESEHLKE SLKCCLLHLF GAIVAGGQRN ALQAISPATM
     EVLMRVLADC DSWEDGDPEE VGRKAELTLK CLTEVVHILL SSNSDQRQVE TSTILENYFK
     LLNSDHSALP NQRRSRQWEN RFIALQIKML NTITAMLDCT DRPVLQAIFL NSNCFEHLIR
     LLQNCKVFQG QLDCLAISTI QALTAVMNKS PAAKEVFKER IGYTHMLEVL KSLGQPPLEL
     LKELMNMAVE GDHTSVGILG ISNVQPLLLL IQWLPELQSH DLQIFISDWL KRICCINRQS
     RTTCVNANMG IRIIETLDLH SSLHQTCAEN LIAIHGSLGS QSVSSEEIRR LLRLLRVDES
     ESVHPYVTPV TRAILTMARK LSLESALQYF NLSHSMAGIS VPPIQKWPGS AFSFSAWFCL
     DQDQLTLGIA NKGGKRKQLY SFFTGSGMGF EAFITHSGML VVAVCTKREY ATVMLPDHSF
     CDSLWHNITV VHMPGKRPFG QSFVYIYDNG QQKVSAPLRF PAMNEPFTSC CIGSAGQRTT
     TPPPSQIPDP PFSSPITPHR TSFGGILSSA SWGGTIEKSK LITKLISAGT QDSEWGCPTS
     LEGQLGSVII FYEPLQPPQV KALYLAGPNC LSPWKCQESD MADLPGNILL YYTAKACKNS
     ICLDLSTNCL HGRLTGNKVV NWDIKDIINC IGGLNVLFPL LEQISHFSEG QIPEEKNEST
     VPESVTPVEG DWLVWTSTKA SESRLERNLV ATFILIVKHF IQRHPINQGN LIHSHGVATL
     GALLQKVPST LMDVNVLMAV QLLIEQVSLE KNMQLLQQMY QYLLFDFRIW NRGDFPFRIG
     HIQYLSTIIK DSRRVFRKKY GVQFLLDTLR IYYGNGCKYN ELSLDDIRTI RTSLYGLIKY
     FLCKGGSHEE IQSIMGYIAA TNEEEQLFGI LDVLFSLLRT SPTRGQLFLL LFEPGNADIL
     YALLLNQKYS DRLREIIFKI MEQMLKCTNV YERSKQHIRL REVGYSGLGL LLNEALVNTS
     LIKNLTHQII NTDPVINFKD LLSVVYISHR AHINVRVAIC RKVLQILQFQ PDAAHQISQQ
     VGWQDTLVRL FLKAKFENGN TLHKHSRAVL MKDNDKNMST EDTKKNSDEK TDEEKITSFA
     SANVSSDQWS LEDRHSLDSN TPLFPEDSSV GELSFKSENQ EEFWHSNPSH LSLDLSGIDS
     CEMSDSGSQV PDSLPSTPSP VESTKSFSVH SDRESSITND MGFSDDFSLL ESQERCEEEL
     LQLLTHILNY VMCKGLEKSD DDTWIERGQV FSALSKPGIS SELLRPSDEI KLTLLQKMLE
     WAISENREAK TNPVTAENAF RLVLIIQDFL QSEGLVNSNM WTEKLLEDMM LLFDCLSVCY
     SESPVWVKLS QIQIQLLLGF IGRGNLQVCA MASAKLNTLL QTKVIENQDE ACYILGKLEH
     VLSQSIKEQT EIYSFLIPLV RTLVSKIYEL LFMNLHLPSL PFTNGSSSFF EDFQEYCNSN
     EWQVYIEKYI VPYMKQYEAH TFYDGHENMA LYWKDCYEAL MVNMHKRDRE GGESKLKFQE
     LFVEPFNRKA RQENLRYNNM LKQLSSQQLA TLRRWKAIQL YLTCERGPWA KRKQNPIHWK
     LANVENYSRM RLKLVPNYNF KTHEEASALR DNLGIQHSQP SSDTLLLEVV KQVKVSDMVE
     DKLDLPEEDI TARVNVDEKE EQDQKEKLVL MEDCELITII DVIPGRLEIT TQHIYFYDGS
     IEKEDGVGFD FKWPHSQIRE IHLRRYNLRR SALEIFHVDQ SNYFLNFKKE VRNKIYSRLL
     SLHSPNSYYG SRSPQELFKA SGLTQKWVNR EISNFDYLIQ INTMAGRTYN DLAQYPVFPW
     ILQDYTSEEL DLNNPAVFRD LSKPIGVVNE KNAKAMREKY ENFEDPMGTI DKFHYGTHYS
     NSAGVMHYLI RVEPFTTLHI QLQSGRFDCA DRQFHSIPAT WQALMDNPYD VKELIPEFFY
     FPEFLENQNQ FNLGRLQISK ELVNDVILPK WAKSAEDFIY KHRKALESEY VSAHLHEWID
     LIFGYKQRGP AAVEALNVFY YCSYEGAVDL DALTDEKERK ALEGMINNFG QTPCQLLKEP
     HPPRLSAEEA VQKPTKIDTS TLNLFQHLPE LKSFFIEGIS DGIPLLKATI PKNQYRSFMS
     QGSPELLITI SMNYVIGTHG WLPYDRNISN YFTFIKDQTV TNPKTQRSIN GSFAPGLEIT
     SKLFVVSHDA KLLFSAGYWD NSIQVMSLTK GKIISHIIRH MDIVTCLATD YCGIHLISGS
     RDTTCMIWQI TQQGGVPVGL ASKPFQILYG HTNEVLSVGI STELDMAVSG SRDGTVIIHT
     IQKGQYMRTL RPPCESSLFL TIPNLAISWE GHIVVYSSTE EKTTLKDKNA LHLFSINGKY
     LGSQILKEQV SDICIIGEHI VTGSIQGFLS IRDLHSLNLS INPLAMRLPI HCVCVTKEYS
     HILVGLEDGK LIVVGVGKPA EMRSGQLSRK FWGSSKRLSQ ISAGETEYNT QDSK
//