NBEL2_HUMAN
ID NBEL2_HUMAN Reviewed; 2754 AA.
AC Q6ZNJ1; O60288; Q6P994; Q6UX91; Q8NAC9;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-MAY-2008, sequence version 2.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=Neurobeachin-like protein 2;
GN Name=NBEAL2; Synonyms=KIAA0540; ORFNames=UNQ253/PRO290;
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 MRNA] (ISOFORM 1).
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Spleen;
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 [LARGE SCALE MRNA] OF 530-2754 (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [5]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1633-2754 (ISOFORM 3).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1782-2754 (ISOFORM 1).
RC TISSUE=Placenta;
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 [8]
RP PROTEIN SEQUENCE OF 2374-2394, FUNCTION, SUBCELLULAR LOCATION, AND VARIANTS
RP GPS PRO-388; ARG-677; LYS-1833; CYS-1839 AND TYR-2263.
RX PubMed=21765412; DOI=10.1038/ng.883;
RA Gunay-Aygun M., Falik-Zaccai T.C., Vilboux T., Zivony-Elboum Y., Gumruk F.,
RA Cetin M., Khayat M., Boerkoel C.F., Kfir N., Huang Y., Maynard D.,
RA Dorward H., Berger K., Kleta R., Anikster Y., Arat M., Freiberg A.S.,
RA Kehrel B.E., Jurk K., Cruz P., Mullikin J.C., White J.G., Huizing M.,
RA Gahl W.A.;
RT "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis
RT of platelet alpha-granules.";
RL Nat. Genet. 43:732-734(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1647, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA Greff Z., Keri G., Stemmann O., Mann M.;
RT "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT kinome across the cell cycle.";
RL Mol. Cell 31:438-448(2008).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1647 AND SER-2739, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [11]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19369195; DOI=10.1074/mcp.m800588-mcp200;
RA Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA Mann M., Daub H.;
RT "Large-scale proteomics analysis of the human kinome.";
RL Mol. Cell. Proteomics 8:1751-1764(2009).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1867 AND SER-2739, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [13]
RP FUNCTION, TISSUE SPECIFICITY, VARIANTS GPS PRO-388; VAL-643; LEU-2100 AND
RP LEU-2269, AND VARIANTS VAL-86; PHE-682 AND GLU-2553.
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).
RN [14]
RP INVOLVEMENT IN GPS.
RX PubMed=21765413; DOI=10.1038/ng.884;
RA Kahr W.H., Hinckley J., Li L., Schwertz H., Christensen H., Rowley J.W.,
RA Pluthero F.G., Urban D., Fabbro S., Nixon B., Gadzinski R., Storck M.,
RA Wang K., Ryu G.Y., Jobe S.M., Schutte B.C., Moseley J., Loughran N.B.,
RA Parkinson J., Weyrich A.S., Di Paola J.;
RT "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet
RT syndrome.";
RL Nat. Genet. 43:738-740(2011).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2739 AND SER-2742, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Probably involved in thrombopoiesis. Plays a role in the
CC development or secretion of alpha-granules, that contain several growth
CC factors important for platelet biogenesis.
CC {ECO:0000269|PubMed:21765411, ECO:0000269|PubMed:21765412}.
CC -!- INTERACTION:
CC Q6ZNJ1; Q96N67: DOCK7; NbExp=8; IntAct=EBI-2862306, EBI-2433703;
CC Q6ZNJ1; O15027: SEC16A; NbExp=6; IntAct=EBI-2862306, EBI-357515;
CC Q6ZNJ1; Q08AM6: VAC14; NbExp=8; IntAct=EBI-2862306, EBI-2107455;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum
CC {ECO:0000269|PubMed:21765412}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZNJ1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZNJ1-2; Sequence=VSP_033505, VSP_033506;
CC Name=3;
CC IsoId=Q6ZNJ1-3; Sequence=VSP_033507;
CC -!- TISSUE SPECIFICITY: Expressed in megakaryocytes.
CC {ECO:0000269|PubMed:21765411}.
CC -!- DISEASE: Gray platelet syndrome (GPS) [MIM:139090]: A rare platelet
CC disorder characterized by a selective deficiency in the number and
CC contents of platelet alpha-granules. It is associated with mild to
CC moderate bleeding tendency and moderate thrombocytopenia. The platelets
CC are enlarged and have a gray appearance on light microscopy of Wright-
CC stained peripheral blood smears due to decreased granules.
CC {ECO:0000269|PubMed:21765411, ECO:0000269|PubMed:21765412,
CC ECO:0000269|PubMed:21765413}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the WD repeat neurobeachin family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03994.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
CC Sequence=BAC85154.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK131104; BAC85154.1; ALT_INIT; mRNA.
DR EMBL; AC094020; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK092871; BAC03994.1; ALT_SEQ; mRNA.
DR EMBL; AB011112; BAA25466.3; -; mRNA.
DR EMBL; AY358455; AAQ88820.1; -; mRNA.
DR EMBL; BC060874; AAH60874.2; -; mRNA.
DR CCDS; CCDS46817.1; -. [Q6ZNJ1-1]
DR PIR; T00271; T00271.
DR RefSeq; NP_055990.1; NM_015175.2. [Q6ZNJ1-1]
DR RefSeq; XP_011531835.1; XM_011533533.2. [Q6ZNJ1-3]
DR SMR; Q6ZNJ1; -.
DR BioGRID; 116825; 25.
DR IntAct; Q6ZNJ1; 136.
DR STRING; 9606.ENSP00000415034; -.
DR iPTMnet; Q6ZNJ1; -.
DR PhosphoSitePlus; Q6ZNJ1; -.
DR BioMuta; NBEAL2; -.
DR DMDM; 189030821; -.
DR CPTAC; CPTAC-1031; -.
DR EPD; Q6ZNJ1; -.
DR jPOST; Q6ZNJ1; -.
DR MassIVE; Q6ZNJ1; -.
DR MaxQB; Q6ZNJ1; -.
DR PaxDb; Q6ZNJ1; -.
DR PeptideAtlas; Q6ZNJ1; -.
DR PRIDE; Q6ZNJ1; -.
DR ProteomicsDB; 68028; -. [Q6ZNJ1-1]
DR ProteomicsDB; 68029; -. [Q6ZNJ1-2]
DR ProteomicsDB; 68030; -. [Q6ZNJ1-3]
DR Antibodypedia; 62670; 48 antibodies from 12 providers.
DR DNASU; 23218; -.
DR Ensembl; ENST00000450053.8; ENSP00000415034.2; ENSG00000160796.18. [Q6ZNJ1-1]
DR GeneID; 23218; -.
DR KEGG; hsa:23218; -.
DR MANE-Select; ENST00000450053.8; ENSP00000415034.2; NM_015175.3; NP_055990.1.
DR UCSC; uc003cqp.4; human. [Q6ZNJ1-1]
DR CTD; 23218; -.
DR DisGeNET; 23218; -.
DR GeneCards; NBEAL2; -.
DR HGNC; HGNC:31928; NBEAL2.
DR HPA; ENSG00000160796; Tissue enhanced (esophagus).
DR MalaCards; NBEAL2; -.
DR MIM; 139090; phenotype.
DR MIM; 614169; gene.
DR neXtProt; NX_Q6ZNJ1; -.
DR OpenTargets; ENSG00000160796; -.
DR Orphanet; 721; Gray platelet syndrome.
DR PharmGKB; PA128394612; -.
DR VEuPathDB; HostDB:ENSG00000160796; -.
DR eggNOG; KOG1787; Eukaryota.
DR GeneTree; ENSGT00940000158454; -.
DR InParanoid; Q6ZNJ1; -.
DR OMA; SVLRVWC; -.
DR OrthoDB; 101142at2759; -.
DR PhylomeDB; Q6ZNJ1; -.
DR TreeFam; TF323165; -.
DR PathwayCommons; Q6ZNJ1; -.
DR Reactome; R-HSA-6798695; Neutrophil degranulation.
DR SignaLink; Q6ZNJ1; -.
DR SIGNOR; Q6ZNJ1; -.
DR BioGRID-ORCS; 23218; 9 hits in 1078 CRISPR screens.
DR ChiTaRS; NBEAL2; human.
DR GeneWiki; NBEAL2; -.
DR GenomeRNAi; 23218; -.
DR Pharos; Q6ZNJ1; Tbio.
DR PRO; PR:Q6ZNJ1; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q6ZNJ1; protein.
DR Bgee; ENSG00000160796; Expressed in granulocyte and 141 other tissues.
DR ExpressionAtlas; Q6ZNJ1; baseline and differential.
DR Genevisible; Q6ZNJ1; HS.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0101003; C:ficolin-1-rich granule membrane; TAS:Reactome.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0070821; C:tertiary granule membrane; TAS:Reactome.
DR GO; GO:0019901; F:protein kinase binding; IBA:GO_Central.
DR GO; GO:0030220; P:platelet formation; IMP:UniProtKB.
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; 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; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Direct protein sequencing; Endoplasmic reticulum;
KW Phosphoprotein; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..2754
FT /note="Neurobeachin-like protein 2"
FT /id="PRO_0000333254"
FT DOMAIN 1915..2040
FT /note="BEACH-type PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01119"
FT DOMAIN 2053..2345
FT /note="BEACH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00026"
FT REPEAT 2386..2424
FT /note="WD 1"
FT REPEAT 2448..2491
FT /note="WD 2"
FT REPEAT 2494..2531
FT /note="WD 3"
FT REPEAT 2544..2582
FT /note="WD 4"
FT REPEAT 2589..2631
FT /note="WD 5"
FT REPEAT 2639..2674
FT /note="WD 6"
FT REPEAT 2682..2717
FT /note="WD 7"
FT REGION 1298..1338
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1364..1438
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1303..1327
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1364..1387
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1404..1438
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1647
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:18691976"
FT MOD_RES 1867
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT MOD_RES 2739
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163"
FT MOD_RES 2742
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1129..1181
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9628581"
FT /id="VSP_033505"
FT VAR_SEQ 1235..1365
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:9628581"
FT /id="VSP_033506"
FT VAR_SEQ 2379..2408
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_033507"
FT VARIANT 86
FT /note="I -> V (in a patient with gray platelet syndrome;
FT dbSNP:rs754407148)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066975"
FT VARIANT 388
FT /note="L -> P (in GPS; dbSNP:rs387907113)"
FT /evidence="ECO:0000269|PubMed:21765411,
FT ECO:0000269|PubMed:21765412"
FT /id="VAR_066976"
FT VARIANT 447
FT /note="R -> H (in dbSNP:rs17079425)"
FT /id="VAR_043133"
FT VARIANT 511
FT /note="R -> G (in dbSNP:rs11720139)"
FT /id="VAR_043134"
FT VARIANT 643
FT /note="E -> V (in GPS; dbSNP:rs387907114)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066977"
FT VARIANT 677
FT /note="W -> R (in GPS)"
FT /evidence="ECO:0000269|PubMed:21765412"
FT /id="VAR_066978"
FT VARIANT 682
FT /note="I -> F (in a patient with gray platelet syndrome;
FT dbSNP:rs773164015)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066979"
FT VARIANT 1833
FT /note="E -> K (in GPS; dbSNP:rs1341020147)"
FT /evidence="ECO:0000269|PubMed:21765412"
FT /id="VAR_066980"
FT VARIANT 1839
FT /note="R -> C (in GPS; dbSNP:rs750160418)"
FT /evidence="ECO:0000269|PubMed:21765412"
FT /id="VAR_066981"
FT VARIANT 1877
FT /note="A -> G (in dbSNP:rs4682830)"
FT /id="VAR_043135"
FT VARIANT 2054
FT /note="S -> F (in dbSNP:rs2305637)"
FT /id="VAR_043136"
FT VARIANT 2100
FT /note="P -> L (in GPS; dbSNP:rs387907115)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066982"
FT VARIANT 2263
FT /note="H -> Y (in GPS; dbSNP:rs1357067113)"
FT /evidence="ECO:0000269|PubMed:21765412"
FT /id="VAR_066983"
FT VARIANT 2269
FT /note="S -> L (in GPS; dbSNP:rs749896920)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066984"
FT VARIANT 2553
FT /note="G -> E (in dbSNP:rs144664865)"
FT /evidence="ECO:0000269|PubMed:21765411"
FT /id="VAR_066985"
FT VARIANT 2747
FT /note="E -> K (in dbSNP:rs12893)"
FT /id="VAR_043137"
FT CONFLICT 79
FT /note="L -> P (in Ref. 3; BAC03994)"
FT /evidence="ECO:0000305"
FT CONFLICT 1845
FT /note="N -> K (in Ref. 7; AAH60874)"
FT /evidence="ECO:0000305"
FT CONFLICT 2161
FT /note="S -> P (in Ref. 7; AAH60874)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2754 AA; 302517 MW; D3DA8DBDF9BB11CC CRC64;
MAASERLYEL WLLYYAQKDL GYLQQWLKAF VGAFKKSISL SSLEPRRPEE AGAEVPLLPL
DELHVLAEQL HQADLEQALL LLKLFIILCR NLENIEAGRG QVLVPRVLAL LTKLVAELKG
CPPPQGRGTQ LENVALHALL LCEGLFDPYQ TWRRQRSGEV ISSKEKSKYK FPPAALPQEF
SAFFQESLQN ADHLPPILLL RLIHLFCAVL AGGKENGQMA VSDGSVKGLL SVVRGWSRGP
APDPCLVPLA LEALVGAVHV LHASRAPPRG PELRALLESY FHVLNADWPA GLSSGPEEAL
VTLRVSMLDA IPMMLACEDR PVLQATFLSN NCFEHLTRLI QNSKLYLQSR APPEGDSDLA
TRLLTEPDVQ KVLDQDTDAI AVHVVRVLTC IMSDSPSAKE VFKERIGYPH LQEVLQSHGP
PTHRLLQELL NMAVEGDHSM CPPPPIRNEQ PVLVLAQWLP SLPTAELRLF LAQRLRWLCD
SCPASRATCV QAGLVGCLLE TLSTGLALEA RCQEQLLALL QALGRVSIRP MELRHLLRPR
PGLDSEPGGA EAGKARHAGA VIRTLSGMAR HQGPARALRY FDLTPSMAGI MVPPVQRWPG
PGFTFHAWLC LHPMDTAPTP APTRPLQRKQ LYSFFTSSGS GFEAFFTAAG TLVVAVCTRK
EYLTMSLPEV SFADSAWHCV AIVHVPGRRP FSQNLVHVYK DGHLVKTAPL RCPSLSEPFS
SCCIGSAGYR TTTTTTGLPT PPVPATLAYT HPALTRSQSV PASTGLGWGS GLVAPLQEGS
IDSTLAGTQD TRWGSPTSLE GELGAVAIFH EALQATALRT LCTLGPNETA PFKPEGELHE
LSTRLLLHYS PQACKNNICL DLSPSHGLDG RLTGHRVETW DVKDVVNCVG GMGALLPLLE
RVAAQPKEAE AGPAETHDLV GPELTSGHNT QGLVLPLGKS SEERMERNAV AAFLLMLRNF
LQGHMVNQES LVQCQGPAII GALLRKVPSW AMDMNVLMSA QLLMEQVAAE GSGPLLYLLY
QHLLFNFHLW TLSDFAVRLG HIQYMSSIVR EHRQKLRKKY GVQFILDALR THYSPQRERP
LAADDLRTVQ TSLLGLAREF LVRSLSADDV QVTQTMLSFL AATGDDGQAV GALDLLLALL
HGSLVQESLA VFLLEPGNLE VLLALLVRPG SLPLLPDRVC KILRRLQQNE RLPERSRQRL
RLRECGLQGL VACLPEGTVS PQLCQGLYKL FLGADCLNLS DLLAVVQLSL QADLSVRLDI
CRQLFHLIYG QPDVVRLLAR QAGWQDVLTR LYVLEAATAG SPPPSSPESP TSPKPAPPKP
PTESPAEPSD VFLPSEAPCP DPDGFYHALS PFCTPFDLGL ERSSVGSGNT AGGGGSSGTL
TPASQPGTPS PLDGPRPFPA APGRHSSSLS NVLEDGSLPE PTISGDDTSN TSNPQQTSEE
ELCNLLTNVL FSVTWRGVEG SDEAAWRERG QVFSVLTQLG ASATLVRPPD CIKRSLLEMM
LESALTDIKE APVGVLASLT QQALWLLRLL QDFLCAEGHG NQELWSEKLF EGVCSLLDRL
GAWPHLANGT ADLREMAQIG LRLVLGYILL EDPQLHAQAY VRLHMLLQTA VPARREEACY
VLSKLEAALG RVLNTSSLES ATDEAGSPLA AAAAAAAAER CSWLVPLVRT LLDRAYEPLG
LQWGLPSLPP TNGSPTFFED FQAFCATPEW RHFIDKQVQP TMSQFEMDTY AKSHDLMSGF
WNACYDMLMS SGQRRQWERA QSRRAFQELV LEPAQRRARL EGLRYTAVLK QQATQHSMAL
LHWGALWRQL ASPCGAWALR DTPIPRWKLS SAETYSRMRL KLVPNHHFDP HLEASALRDN
LGEVPLTPTE EASLPLAVTK EAKVSTPPEL LQEDQLGEDE LAELETPMEA AELDEQREKL
VLSAECQLVT VVAVVPGLLE VTTQNVYFYD GSTERVETEE GIGYDFRRPL AQLREVHLRR
FNLRRSALEL FFIDQANYFL NFPCKVGTTP VSSPSQTPRP QPGPIPPHTQ VRNQVYSWLL
RLRPPSQGYL SSRSPQEMLR ASGLTQKWVQ REISNFEYLM QLNTIAGRTY NDLSQYPVFP
WVLQDYVSPT LDLSNPAVFR DLSKPIGVVN PKHAQLVREK YESFEDPAGT IDKFHYGTHY
SNAAGVMHYL IRVEPFTSLH VQLQSGRFDC SDRQFHSVAA AWQARLESPA DVKELIPEFF
YFPDFLENQN GFDLGCLQLT NEKVGDVVLP PWASSPEDFI QQHRQALESE YVSAHLHEWI
DLIFGYKQRG PAAEEALNVF YYCTYEGAVD LDHVTDERER KALEGIISNF GQTPCQLLKE
PHPTRLSAEE AAHRLARLDT NSPSIFQHLD ELKAFFAEVV SDGVPLVLAL VPHRQPHSFI
TQGSPDLLVT VSASGLLGTH SWLPYDRNIS NYFSFSKDPT MGSHKTQRLL SGPWVPGSGV
SGQALAVAPD GKLLFSGGHW DGSLRVTALP RGKLLSQLSC HLDVVTCLAL DTCGIYLISG
SRDTTCMVWR LLHQGGLSVG LAPKPVQVLY GHGAAVSCVA ISTELDMAVS GSEDGTVIIH
TVRRGQFVAA LRPLGATFPG PIFHLALGSE GQIVVQSSAW ERPGAQVTYS LHLYSVNGKL
RASLPLAEQP TALTVTEDFV LLGTAQCALH ILQLNTLLPA APPLPMKVAI RSVAVTKERS
HVLVGLEDGK LIVVVAGQPS EVRSSQFARK LWRSSRRISQ VSSGETEYNP TEAR
