NBEL2_DANRE
ID NBEL2_DANRE Reviewed; 2801 AA.
AC E7FAW3;
DT 22-FEB-2012, integrated into UniProtKB/Swiss-Prot.
DT 08-MAR-2011, sequence version 1.
DT 03-AUG-2022, entry version 66.
DE RecName: Full=Neurobeachin-like protein 2;
GN Name=nbeal2;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION IN THROMBOPOIESIS.
RX PubMed=21765411; DOI=10.1038/ng.885;
RA Albers C.A., Cvejic A., Favier R., Bouwmans E.E., Alessi M.C., Bertone P.,
RA Jordan G., Kettleborough R.N., Kiddle G., Kostadima M., Read R.J.,
RA Sipos B., Sivapalaratnam S., Smethurst P.A., Stephens J., Voss K.,
RA Nurden A., Rendon A., Nurden P., Ouwehand W.H.;
RT "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet
RT syndrome.";
RL Nat. Genet. 43:735-737(2011).
CC -!- FUNCTION: Involved in thrombopoiesis. Plays a role in the development
CC or secretion of alpha-granules, that contain several growth factors
CC important for platelet biogenesis. {ECO:0000269|PubMed:21765411}.
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the WD repeat neurobeachin family.
CC {ECO:0000305}.
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; CU459067; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CU651675; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FP102086; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_003200210.2; XM_003200162.4.
DR SMR; E7FAW3; -.
DR STRING; 7955.ENSDARP00000038543; -.
DR PaxDb; E7FAW3; -.
DR PRIDE; E7FAW3; -.
DR GeneID; 100330830; -.
DR KEGG; dre:100330830; -.
DR CTD; 23218; -.
DR ZFIN; ZDB-GENE-100922-283; nbeal2.
DR eggNOG; KOG1787; Eukaryota.
DR InParanoid; E7FAW3; -.
DR OrthoDB; 101142at2759; -.
DR PhylomeDB; E7FAW3; -.
DR TreeFam; TF323165; -.
DR PRO; PR:E7FAW3; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Unplaced.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
DR GO; GO:0030220; P:platelet formation; IMP:ZFIN.
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; 1.25.10.10; -; 1.
DR Gene3D; 2.130.10.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011989; ARM-like.
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; IPR026916; NBEAL2.
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 PANTHER; PTHR13743:SF111; PTHR13743:SF111; 1.
DR Pfam; PF02138; Beach; 1.
DR Pfam; PF15787; DUF4704; 1.
DR Pfam; PF14844; PH_BEACH; 1.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM01026; Beach; 1.
DR SMART; SM00320; WD40; 3.
DR SUPFAM; SSF48371; SSF48371; 2.
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; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Endoplasmic reticulum; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..2801
FT /note="Neurobeachin-like protein 2"
FT /id="PRO_0000415439"
FT DOMAIN 1986..2086
FT /note="BEACH-type PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01119"
FT DOMAIN 2099..2391
FT /note="BEACH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00026"
FT REPEAT 2431..2468
FT /note="WD 1"
FT REPEAT 2492..2535
FT /note="WD 2"
FT REPEAT 2538..2575
FT /note="WD 3"
FT REPEAT 2588..2626
FT /note="WD 4"
FT REPEAT 2633..2676
FT /note="WD 5"
FT REPEAT 2684..2719
FT /note="WD 6"
FT REPEAT 2727..2762
FT /note="WD 7"
FT REGION 1379..1529
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1395..1441
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1471..1486
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1495..1529
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 2801 AA; 314490 MW; 7D7AB91CD4004B94 CRC64;
MASKERLYEL WMLYYTKKDV VYLQQWLEAF VASFEKVIDV HSIEPRRLEE WSADVPLLPK
EVLVFLSTQL WHSALHMSGQ DQSITAPHPL LLIKFFIIIC RNMENIDSEK TPGFVFETIK
LLNFCLAQLK KQPDDQSTLQ AVVQHGLLLC ENLFDPYQTW RRRQAGEEVS MLERSKYKFS
PLVLPEELPM LFHEYLQDSE LIPEPLVVRL VHLQGAVISG CKRNGLLSIT PQAVKDLMSV
LRSWCLCPAS SPQQPRDPQL LRMALRCLTV MIHLLHSSSV NERQVEIRSA LDDYFQLLNW
NRPPDSQQGD MHAWEDNLIT LLEHMLNAIP EILQCSDRPV LQAIFLNNNC FEHILRLIQN
SKLYQSNRFK LECEGQCDLT TRLLTESEVE QVWEKGSDCI TVHAIRVLTA IMSNSPSAKE
VFKERIGYSQ LFDVLKSQGQ PTKRLLQELM NMAVEGEHSQ AMQLGISNEQ PLLLLLQWLP
DLGSRSLQLL VSQWLAAVCR GTLSCRTVSV EAGLVGSLLE VLSEPPERLD RQCADSLLGL
LQDLGSLSLR PCELKSLLKL LRTEPGAPPH PYCGRVVRVL SAMAARGEGG CSALQYFDLT
PPMAGIMVPA IQRWPGSAFA FHAWLCLNTD FPPPQHHYSE SHLTNMDNTV RMAKGPRRKQ
LYSFFTASGT GFEAFFTTEE VLVVAVCTKK EYMAVSLPEH PFNDCAWHSV AIVHVPGRRP
FGQNVVTVYV DGVQCKTAPL RFPSLNEPFT SCCIGSAGHR TTTTTMTTSP TLPNPPHSPS
EMAFAAHTGP PTLLRSQSFP ASFAAAAGGR PGGNRESPVH TIQAGLQDTA WGSPSSLGGL
LATAFICHEA LQPAQARALF TAGPNNVSLF KADGEPSEVN SKLVLYYTPK AFKSQICLDL
SPNHLYDGRL TGHRVVNWDV KDVLSSVGGM GALLPLLEQV CLLDQRETVG QETSDLLGPE
LTSSRGPAGM LLPLGKSSEG RLEKNSVAAF LLMIKNMLRN HPANQESLLQ CHGPAIIGAM
LGKVPSSMMD MSVLMACQFL LKQVSNEGNN ALLSQLYQYL LFDFRIWSRS HFAVCLGHVQ
YLTTVINEGK LKTRRKYGVQ YILDSIRTHY SVEKDGSPLS DERQTVQISL FSLLKDLLKS
PTAEELHSVL AYAAIVQDEQ QVISVLDVLH TVLKSSPPPR EQVVTVLLDR RVEQLYYLLL
KTNYGDEARE RLFRVMYKVL KSERVHDRNK QLIKLKDSGY LGLVCSFGDV PITMTTVRCL
YEQVLATDPT PSFKDLLAVV YLSHRADLSA RLEIVRKLFC LIHSNEEYVK QLAHQSGWQD
VLTKLYVKES YESRVRSQSN SLSSPTSSLD PVLSRPVFRR DDSVTEDVRQ NVYITLAARH
EEEYEEEEGE TQDASEGFSD LSQSPPSTGQ LKNDSLHFKP FDSGDQSSHS STLSNTVDFP
PSRLQEEDEA VYQPLSPFGS PFELELNHQK GPQTPVGSQP ETPSPLEHNK TFLGMRPRKS
SSLSNVLDDT SYSTEPPTDT ISNTSNPQAP EEELCNLLTN IVFSVLWIGT EGSEDVIWRE
RGQVFSVLTK LGSSCQLVRP PDDIKRSLLE MMLESSLSDL RDSQGVSLPH VPSLLRLLRL
LQDFLFAEGT CNHTLWSEKI FEGVVNLLDR LKAWHTTPGS AGSAELKEMS LIGLRIITGY
IQQQQNPQVC EMACLKLHSL LQTVLCLSWE EVCFLLGRLG APLCPANSAS DTSAEGLPSP
LVPIVRALLD QHADHTTLQE KLPNLPATNG SPSFAQDLQI YCSTAEWQQF YQNHVEPTMQ
QYELDTFGKS HDLMSNFWNS CFDDLMSTGQ RRDKERSDSK AKFQEVIVDP YLKRVRTENS
RYHSVQKMIN GQQTVVWRHW RSLRRLLSSD RGAWPLRVQP EVKWKLSSAE TYSKMRLKLV
PNYSFDSHSD ASALRDNMGA DSPRSSTEPL PLAVAREAKV SDMDDDKLED EDIVFLEEAE
EAEEESQKEK LVLSEDCELI TIVAVVPGRL EVTTHHLYFY DGSSEKEETE EGIGFDFKRP
LSQLREVHLR RYNLRRSALE LFFIDQSHYF INFRKGVRNK VYSRILGLRP PNLFYFGSRS
PQELLKASNL THRWVCREIS NFEYLMQLNT IAGRTYNDLS QYPVFPWVLC DYTSAELDLD
DPAVFRDLSK PIGVVNPRHA QNVREKYESF EDPTGTIDKF HYGTHYSNAA GVMHYMIRTE
PFTSLHIQLQ SGKFDCADRQ FHSIAAAWQA RMESPADVKE LIPEFFYFPE FLENMNGFDL
GCLQISQEKV NNVLLPPWAS SREDFIRKHR KALESEHVSA HLHEWIDLIF GYKQRGPEAV
EALNVFYYCT YEGAVDLDAI ANETERKALE GIISNFGQTP CQLLKEPHPP RMSAENAFRR
AARLDILPPN LFDQLSKLRS FKEVVSDGLA LVQAVVPRNQ TRSFIIPGSD ILVTVSANGM
IGTHSWLPYD KNIANYFTFT RDPSVSNPKT QRFLSGPFSP GVEMGSQVLV VSSDGRLLFS
GGHWDCSLRV TMLGKAKLVG RICRHIDVVT CLALDLCGIY LISGSRDTTC MVWQVLQQGG
FSSGLSPRPI QVLCGHDQEV TCVAISTELD MAISGSKDGT VIVHSVRRGQ YLWTLRPPCE
NCVSAPVAQL EVGMEGHIVM QTVLEGRSAG KERYALHVYS VNGTLLASET LDEKISALYL
VPDYLIVGTQ QGNLHIRDLY SLNLAVAPLA LKVPVRCVSV TKESSHILVG LEDGKLIVVG
AGKPEEVRSG QFSRRLWGST RRISQVSSGE TEYNPVEAPA K
