NBEL1_HUMAN
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 03-AUG-2022, entry version 154.
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 AlphaFoldDB; Q6ZS30; -.
DR SMR; Q6ZS30; -.
DR BioGRID; 122383; 22.
DR IntAct; Q6ZS30; 18.
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 MaxQB; Q6ZS30; -.
DR PaxDb; Q6ZS30; -.
DR PeptideAtlas; Q6ZS30; -.
DR PRIDE; Q6ZS30; -.
DR ProteomicsDB; 68187; -. [Q6ZS30-2]
DR ProteomicsDB; 68188; -. [Q6ZS30-1]
DR Antibodypedia; 34160; 76 antibodies from 20 providers.
DR DNASU; 65065; -.
DR Ensembl; ENST00000449802.5; ENSP00000399903.1; ENSG00000144426.19. [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; -.
DR eggNOG; KOG1787; Eukaryota.
DR GeneTree; ENSGT00940000155041; -.
DR HOGENOM; CLU_000218_0_0_1; -.
DR InParanoid; Q6ZS30; -.
DR OMA; HRTCGEQ; -.
DR OrthoDB; 101142at2759; -.
DR PhylomeDB; Q6ZS30; -.
DR TreeFam; TF323165; -.
DR PathwayCommons; Q6ZS30; -.
DR SignaLink; Q6ZS30; -.
DR BioGRID-ORCS; 65065; 216 hits in 1075 CRISPR screens.
DR ChiTaRS; NBEAL1; human.
DR GenomeRNAi; 65065; -.
DR Pharos; Q6ZS30; Tbio.
DR PRO; PR:Q6ZS30; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q6ZS30; protein.
DR Bgee; ENSG00000144426; Expressed in colonic epithelium and 175 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 Gene3D; 2.30.29.30; -; 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; NBEA/BDCP_DUF4704.
DR InterPro; IPR023362; PH-BEACH_dom.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
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 REGION 1289..1314
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1330..1350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1381..1411
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
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
