NBEA_HUMAN
ID NBEA_HUMAN Reviewed; 2946 AA.
AC Q8NFP9; B7Z2H9; Q5T320; Q9HCM8; Q9NSU1; Q9NW98; Q9Y6J1;
DT 20-JUN-2003, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 187.
DE RecName: Full=Neurobeachin {ECO:0000305};
DE AltName: Full=Lysosomal-trafficking regulator 2;
DE AltName: Full=Protein BCL8B;
GN Name=NBEA {ECO:0000312|HGNC:HGNC:7648}; Synonyms=BCL8B, KIAA1544, LYST2;
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:0000312|EMBL:AAM53531.1};
RN [1] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Brain {ECO:0000269|PubMed:12160729}, and
RC Spleen {ECO:0000269|PubMed:12160729};
RX PubMed=12160729; DOI=10.1006/geno.2002.6822;
RA Dyomin V.G., Chaganti S.R., Dyomina K., Palanisamy N., Murty V.V.V.S.,
RA Dalla-Favera R., Chaganti R.S.K.;
RT "BCL8 is a novel, evolutionarily conserved human gene family encoding
RT proteins with presumptive protein kinase A anchoring function.";
RL Genomics 80:158-165(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 606-1118 (ISOFORMS 1/2).
RC TISSUE=Brain, and Embryonic head;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1919-2946 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2393-2946 (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6] {ECO:0000305}
RP NUCLEOTIDE SEQUENCE [MRNA] OF 2428-2946 (ISOFORM 1).
RA Tchernev V.T., McMurtrie E.B., Nguyen Q.A., Mishra V.S., Barbosa M.D.F.S.,
RA McIndoe R., Kingsmore S.F.;
RT "Identification of LYST2, a brain-specific member of the Chediak-Higashi
RT syndrome gene family.";
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [8] {ECO:0000305}
RP X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 2150-2563.
RX PubMed=12234919; DOI=10.1093/emboj/cdf502;
RA Jogl G., Shen Y., Gebauer D., Li J., Wiegmann K., Kashkar H., Kroenke M.,
RA Tong L.;
RT "Crystal structure of the BEACH domain reveals an unusual fold and
RT extensive association with a novel PH domain.";
RL EMBO J. 21:4785-4795(2002).
RN [9]
RP VARIANTS NEDEGE 336-ARG--TYR-2946 DEL; VAL-483; TYR-946; 1278-ARG--TYR-2946
RP DEL; SER-1332; 1572-SER--TYR-2946 DEL; 2105-GLU--TYR-2946 DEL;
RP 2213-ARG--TYR-2946 DEL; 2277-ARG--TYR-2946 DEL; 2290-GLN--TYR-2946 DEL;
RP 2488-GLU--TYR-2946 DEL AND LYS-2801.
RX PubMed=30269351; DOI=10.1002/ana.25350;
RG CAUSES study;
RG EuroEPINOMICS-RES-MAE working group;
RA Mulhern M.S., Stumpel C., Stong N., Brunner H.G., Bier L., Lippa N.,
RA Riviello J., Rouhl R.P.W., Kempers M., Pfundt R., Stegmann A.P.A.,
RA Kukolich M.K., Telegrafi A., Lehman A., Lopez-Rangel E., Houcinat N.,
RA Barth M., den Hollander N., Hoffer M.J.V., Weckhuysen S., Roovers J.,
RA Djemie T., Barca D., Ceulemans B., Craiu D., Lemke J.R., Korff C.,
RA Mefford H.C., Meyers C.T., Siegler Z., Hiatt S.M., Cooper G.M., Bebin E.M.,
RA Snijders Blok L., Veenstra-Knol H.E., Baugh E.H., Brilstra E.H.,
RA Volker-Touw C.M.L., van Binsbergen E., Revah-Politi A., Pereira E.,
RA McBrian D., Pacault M., Isidor B., Le Caignec C., Gilbert-Dussardier B.,
RA Bilan F., Heinzen E.L., Goldstein D.B., Stevens S.J.C., Sands T.T.;
RT "NBEA: Developmental disease gene with early generalized epilepsy
RT phenotypes.";
RL Ann. Neurol. 84:788-795(2018).
CC -!- FUNCTION: Binds to type II regulatory subunits of protein kinase A and
CC anchors/targets them to the membrane. May anchor the kinase to
CC cytoskeletal and/or organelle-associated proteins (By similarity).
CC {ECO:0000250}.
CC -!- SUBUNIT: Interacts with RII subunit of PKA.
CC {ECO:0000250|UniProtKB:Q9EPN1}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250};
CC Peripheral membrane protein {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1 {ECO:0000305};
CC IsoId=Q8NFP9-1; Sequence=Displayed;
CC Name=2 {ECO:0000305};
CC IsoId=Q8NFP9-2; Sequence=VSP_050538, VSP_050539;
CC Name=3;
CC IsoId=Q8NFP9-3; Sequence=VSP_046397;
CC -!- TISSUE SPECIFICITY: Predominant in many brain structures. Also
CC expressed at medium levels in spleen, thymus, prostate, testis and
CC ovary. Low level expression is seen in heart, kidney, pancreas,
CC skeletal muscle and intestine. {ECO:0000269|PubMed:12160729}.
CC -!- DOMAIN: RII-alpha binding site, predicted to form an amphipathic helix,
CC could participate in protein-protein interactions with a complementary
CC surface on the R-subunit dimer. {ECO:0000250|UniProtKB:Q9EPN1}.
CC -!- DISEASE: Neurodevelopmental disorder with or without early-onset
CC generalized epilepsy (NEDEGE) [MIM:619157]: An autosomal dominant
CC neurodevelopmental disorder characterized by global developmental
CC delay, variably impaired intellectual development, speech delay, and
CC behavioral abnormalities including autism or autistic features,
CC attention deficits and hyperactivity, or aggressive behavior. About
CC half of patients develop early-onset generalized epilepsy with
CC different seizure types. The disease is apparent from infancy or early
CC childhood. {ECO:0000269|PubMed:30269351}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the WD repeat neurobeachin family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD41633.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAA91485.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF467288; AAM53531.1; -; mRNA.
DR EMBL; AL138690; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK001059; BAA91485.1; ALT_SEQ; mRNA.
DR EMBL; AK294737; BAH11865.1; -; mRNA.
DR EMBL; AL139083; CAH71883.1; -; Genomic_DNA.
DR EMBL; AL390071; CAH71883.1; JOINED; Genomic_DNA.
DR EMBL; AL159160; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL161718; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL161902; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL356430; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL357083; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL390071; CAI17183.1; -; Genomic_DNA.
DR EMBL; AL139083; CAI17183.1; JOINED; Genomic_DNA.
DR EMBL; AB046764; BAB13370.1; -; mRNA.
DR EMBL; AL137748; CAB70903.2; -; mRNA.
DR EMBL; AF072371; AAD41633.1; ALT_FRAME; mRNA.
DR CCDS; CCDS45026.1; -. [Q8NFP9-1]
DR CCDS; CCDS55894.1; -. [Q8NFP9-3]
DR PIR; T46310; T46310.
DR RefSeq; NP_001191126.1; NM_001204197.1. [Q8NFP9-3]
DR RefSeq; NP_056493.3; NM_015678.4. [Q8NFP9-1]
DR PDB; 1MI1; X-ray; 2.90 A; A/B=2150-2563.
DR PDBsum; 1MI1; -.
DR SMR; Q8NFP9; -.
DR BioGRID; 117928; 65.
DR IntAct; Q8NFP9; 23.
DR MINT; Q8NFP9; -.
DR STRING; 9606.ENSP00000383295; -.
DR GlyGen; Q8NFP9; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NFP9; -.
DR PhosphoSitePlus; Q8NFP9; -.
DR BioMuta; NBEA; -.
DR DMDM; 296439289; -.
DR EPD; Q8NFP9; -.
DR jPOST; Q8NFP9; -.
DR MassIVE; Q8NFP9; -.
DR MaxQB; Q8NFP9; -.
DR PaxDb; Q8NFP9; -.
DR PeptideAtlas; Q8NFP9; -.
DR PRIDE; Q8NFP9; -.
DR ProteomicsDB; 6440; -.
DR ProteomicsDB; 73333; -. [Q8NFP9-1]
DR ProteomicsDB; 73334; -. [Q8NFP9-2]
DR Antibodypedia; 22966; 73 antibodies from 27 providers.
DR DNASU; 26960; -.
DR Ensembl; ENST00000400445.8; ENSP00000383295.3; ENSG00000172915.20. [Q8NFP9-1]
DR Ensembl; ENST00000537702.6; ENSP00000440233.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000685329.1; ENSP00000509799.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000685686.1; ENSP00000509879.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000686741.1; ENSP00000510596.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000686952.1; ENSP00000509331.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000689454.1; ENSP00000509389.1; ENSG00000172915.20. [Q8NFP9-3]
DR Ensembl; ENST00000693262.1; ENSP00000509811.1; ENSG00000172915.20. [Q8NFP9-3]
DR GeneID; 26960; -.
DR KEGG; hsa:26960; -.
DR UCSC; uc058wka.1; human. [Q8NFP9-1]
DR CTD; 26960; -.
DR DisGeNET; 26960; -.
DR GeneCards; NBEA; -.
DR HGNC; HGNC:7648; NBEA.
DR HPA; ENSG00000172915; Group enriched (brain, retina).
DR MalaCards; NBEA; -.
DR MIM; 604889; gene.
DR MIM; 619157; phenotype.
DR neXtProt; NX_Q8NFP9; -.
DR OpenTargets; ENSG00000172915; -.
DR Orphanet; 178469; Autosomal dominant non-syndromic intellectual disability.
DR PharmGKB; PA31454; -.
DR VEuPathDB; HostDB:ENSG00000172915; -.
DR eggNOG; KOG1787; Eukaryota.
DR GeneTree; ENSGT00940000154934; -.
DR InParanoid; Q8NFP9; -.
DR OMA; XRKVEIM; -.
DR OrthoDB; 101142at2759; -.
DR PhylomeDB; Q8NFP9; -.
DR TreeFam; TF313490; -.
DR PathwayCommons; Q8NFP9; -.
DR Reactome; R-HSA-112314; Neurotransmitter receptors and postsynaptic signal transmission.
DR Reactome; R-HSA-163615; PKA activation.
DR Reactome; R-HSA-2122947; NOTCH1 Intracellular Domain Regulates Transcription.
DR Reactome; R-HSA-9609736; Assembly and cell surface presentation of NMDA receptors.
DR SignaLink; Q8NFP9; -.
DR SIGNOR; Q8NFP9; -.
DR BioGRID-ORCS; 26960; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; NBEA; human.
DR EvolutionaryTrace; Q8NFP9; -.
DR GenomeRNAi; 26960; -.
DR Pharos; Q8NFP9; Tbio.
DR PRO; PR:Q8NFP9; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8NFP9; protein.
DR Bgee; ENSG00000172915; Expressed in cortical plate and 185 other tissues.
DR ExpressionAtlas; Q8NFP9; baseline and differential.
DR Genevisible; Q8NFP9; HS.
DR GO; GO:0005829; C:cytosol; ISS:UniProtKB.
DR GO; GO:0012505; C:endomembrane system; ISS:UniProtKB.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0005802; C:trans-Golgi network; ISS:UniProtKB.
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; IPR010508; NBEA-like_DUF1088.
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; PF06469; DUF1088; 1.
DR Pfam; PF15787; DUF4704; 1.
DR Pfam; PF14844; PH_BEACH; 1.
DR SMART; SM01026; Beach; 1.
DR SMART; SM00320; WD40; 5.
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; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Cytoplasm; Disease variant; Epilepsy;
KW Intellectual disability; Membrane; Phosphoprotein; Reference proteome;
KW Repeat; WD repeat.
FT CHAIN 1..2946
FT /note="Neurobeachin"
FT /id="PRO_0000051089"
FT REPEAT 1326..1368
FT /note="WD 1"
FT /evidence="ECO:0000305"
FT DOMAIN 2147..2255
FT /note="BEACH-type PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01119"
FT DOMAIN 2274..2563
FT /note="BEACH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00026,
FT ECO:0000305"
FT REPEAT 2718..2761
FT /note="WD 2"
FT /evidence="ECO:0000305"
FT REPEAT 2778..2818
FT /note="WD 3"
FT /evidence="ECO:0000305"
FT REPEAT 2860..2899
FT /note="WD 4"
FT /evidence="ECO:0000305"
FT REPEAT 2902..2941
FT /note="WD 5"
FT /evidence="ECO:0000305"
FT REGION 971..995
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1490..1531
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1651..1675
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1711..1731
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1841..1860
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 978..995
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1500..1524
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1011
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 1014
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 1529
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 1714
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 1717
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 2138
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT MOD_RES 2575
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9EPN1"
FT VAR_SEQ 1..2443
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_050538"
FT VAR_SEQ 1..2207
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_046397"
FT VAR_SEQ 2539
FT /note="E -> EIPEAYFIRDPHTFLLTKDFIK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_050539"
FT VARIANT 336..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085275"
FT VARIANT 483
FT /note="A -> V (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085276"
FT VARIANT 569
FT /note="A -> P (in dbSNP:rs5011295)"
FT /id="VAR_047658"
FT VARIANT 946
FT /note="H -> Y (in NEDEGE; dbSNP:rs869312667)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085366"
FT VARIANT 1278..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085278"
FT VARIANT 1332
FT /note="P -> S (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085279"
FT VARIANT 1572..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085280"
FT VARIANT 2105..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085281"
FT VARIANT 2213..2946
FT /note="Missing (in NEDEGE; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085282"
FT VARIANT 2277..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085283"
FT VARIANT 2290..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085284"
FT VARIANT 2488..2946
FT /note="Missing (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085285"
FT VARIANT 2501
FT /note="I -> V (in dbSNP:rs11538677)"
FT /id="VAR_047659"
FT VARIANT 2801
FT /note="E -> K (in NEDEGE)"
FT /evidence="ECO:0000269|PubMed:30269351"
FT /id="VAR_085286"
FT CONFLICT 1658
FT /note="P -> S (in Ref. 1; AAM53531)"
FT /evidence="ECO:0000305"
FT CONFLICT 2564
FT /note="S -> N (in Ref. 6; AAD41633)"
FT /evidence="ECO:0000305"
FT CONFLICT 2706
FT /note="S -> T (in Ref. 6; AAD41633)"
FT /evidence="ECO:0000305"
FT STRAND 2154..2162
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2165..2173
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2175..2182
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2187..2190
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2194..2199
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2206..2208
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2209..2211
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2212..2220
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2223..2231
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2236..2240
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2244..2252
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2269..2273
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2276..2281
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2285..2290
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2296..2306
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2314..2316
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2328..2331
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2337..2339
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2347..2349
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2352..2363
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2374..2377
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2382..2388
FT /evidence="ECO:0007829|PDB:1MI1"
FT TURN 2389..2391
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2395..2401
FT /evidence="ECO:0007829|PDB:1MI1"
FT TURN 2402..2405
FT /evidence="ECO:0007829|PDB:1MI1"
FT TURN 2410..2412
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2417..2426
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2436..2439
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2442..2445
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2474..2485
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2488..2491
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2494..2501
FT /evidence="ECO:0007829|PDB:1MI1"
FT STRAND 2506..2508
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2509..2513
FT /evidence="ECO:0007829|PDB:1MI1"
FT TURN 2520..2522
FT /evidence="ECO:0007829|PDB:1MI1"
FT TURN 2529..2531
FT /evidence="ECO:0007829|PDB:1MI1"
FT HELIX 2535..2548
FT /evidence="ECO:0007829|PDB:1MI1"
SQ SEQUENCE 2946 AA; 327822 MW; 2E371FDA2F00781E CRC64;
MASEKPGPGP GLEPQPVGLI AVGAAGGGGG GSGGGGTGGS GMGELRGASG SGSVMLPAGM
INPSVPIRNI RMKFAVLIGL IQVGEVSNRD IVETVLNLLV GGEFDLEMNF IIQDAESITC
MTELLEHCDV TCQAEIWSMF TAILRKSVRN LQTSTEVGLI EQVLLKMSAV DDMIADLLVD
MLGVLASYSI TVKELKLLFS MLRGESGIWP RHAVKLLSVL NQMPQRHGPD TFFNFPGCSA
AAIALPPIAK WPYQNGFTLN TWFRMDPLNN INVDKDKPYL YCFRTSKGVG YSAHFVGNCL
IVTSLKSKGK GFQHCVKYDF QPRKWYMISI VHIYNRWRNS EIRCYVNGQL VSYGDMAWHV
NTNDSYDKCF LGSSETADAN RVFCGQLGAV YVFSEALNPA QIFAIHQLGP GYKSTFKFKS
ESDIHLAEHH KQVLYDGKLA SSIAFTYNAK ATDAQLCLES SPKENASIFV HSPHALMLQD
VKAIVTHSIH SAIHSIGGIQ VLFPLFAQLD NRQLNDSQVE TTVCATLLAF LVELLKSSVA
MQEQMLGGKG FLVIGYLLEK SSRVHITRAV LEQFLSFAKY LDGLSHGAPL LKQLCDHILF
NPAIWIHTPA KVQLSLYTYL SAEFIGTATI YTTIRRVGTV LQLMHTLKYY YWVINPADSS
GITPKGLDGP RPSQKEIISL RAFMLLFLKQ LILKDRGVKE DELQSILNYL LTMHEDENIH
DVLQLLVALM SEHPASMIPA FDQRNGIRVI YKLLASKSES IWVQALKVLG YFLKHLGHKR
KVEIMHTHSL FTLLGERLML HTNTVTVTTY NTLYEILTEQ VCTQVVHKPH PEPDSTVKIQ
NPMILKVVAT LLKNSTPSAE LMEVRRLFLS DMIKLFSNSR ENRRCLLQCS VWQDWMFSLG
YINPKNSEEQ KITEMVYNIF RILLYHAIKY EWGGWRVWVD TLSIAHSKVT YEAHKEYLAK
MYEEYQRQEE ENIKKGKKGN VSTISGLSSQ TTGAKGGMEI REIEDLSQSQ SPESETDYPV
STDTRDLLMS TKVSDDILGN SDRPGSGVHV EVHDLLVDIK AEKVEATEVK LDDMDLSPET
LVGGENGALV EVESLLDNVY SAAVEKLQNN VHGSVGIIKK NEEKDNGPLI TLADEKEDLP
NSSTSFLFDK IPKQEEKLLP ELSSNHIIPN IQDTQVHLGV SDDLGLLAHM TGSVDLTCTS
SIIEEKEFKI HTTSDGMSSI SERDLASSTK GLEYAEMTAT TLETESSSSK IVPNIDAGSI
ISDTERSDDG KESGKEIRKI QTTTTTQAVQ GRSITQQDRD LRVDLGFRGM PMTEEQRRQF
SPGPRTTMFR IPEFKWSPMH QRLLTDLLFA LETDVHVWRS HSTKSVMDFV NSNENIIFVH
NTIHLISQMV DNIIIACGGI LPLLSAATSP TGSKTELENI EVTQGMSAET AVTFLSRLMA
MVDVLVFASS LNFSEIEAEK NMSSGGLMRQ CLRLVCCVAV RNCLECRQRQ RDRGNKSSHG
SSKPQEVPQS VTATAASKTP LENVPGNLSP IKDPDRLLQD VDINRLRAVV FRDVDDSKQA
QFLALAVVYF ISVLMVSKYR DILEPQRETT RTGSQPGRNI RQEINSPTST VVVIPSIPHP
SLNHGFLAKL IPEQSFGHSF YKETPAAFPD TIKEKETPTP GEDIQVESSI PHTDSGIGEE
QVASILNGAE LETSTGPDAM SELLSTLSSE VKKSQESLTE NPSETLKPAT SISSISQTKG
INVKEILKSL VAAPVEIAEC GPEPIPYPDP ALKRETQAIL PMQFHSFDRS VVVPVKKPPP
GSLAVTTVGA TTAGSGLPTG STSNIFAATG ATPKSMINTT GAVDSGSSSS SSSSSFVNGA
TSKNLPAVQT VAPMPEDSAE NMSITAKLER ALEKVAPLLR EIFVDFAPFL SRTLLGSHGQ
ELLIEGLVCM KSSTSVVELV MLLCSQEWQN SIQKNAGLAF IELINEGRLL CHAMKDHIVR
VANEAEFILN RQRAEDVHKH AEFESQCAQY AADRREEEKM CDHLISAAKH RDHVTANQLK
QKILNILTNK HGAWGAVSHS QLHDFWRLDY WEDDLRRRRR FVRNAFGSTH AEALLKAAIE
YGTEEDVVKS KKTFRSQAIV NQNAETELML EGDDDAVSLL QEKEIDNLAG PVVLSTPAQL
IAPVVVAKGT LSITTTEIYF EVDEDDSAFK KIDTKVLAYT EGLHGKWMFS EIRAVFSRRY
LLQNTALEVF MANRTSVMFN FPDQATVKKV VYSLPRVGVG TSYGLPQARR ISLATPRQLY
KSSNMTQRWQ RREISNFEYL MFLNTIAGRT YNDLNQYPVF PWVLTNYESE ELDLTLPGNF
RDLSKPIGAL NPKRAVFYAE RYETWEDDQS PPYHYNTHYS TATSTLSWLV RIEPFTTFFL
NANDGKFDHP DRTFSSVARS WRTSQRDTSD VKELIPEFYY LPEMFVNSNG YNLGVREDEV
VVNDVDLPPW AKKPEDFVRI NRMALESEFV SCQLHQWIDL IFGYKQRGPE AVRALNVFHY
LTYEGSVNLD SITDPVLREA MEAQIQNFGQ TPSQLLIEPH PPRSSAMHLC FLPQSPLMFK
DQMQQDVIMV LKFPSNSPVT HVAANTLPHL TIPAVVTVTC SRLFAVNRWH NTVGLRGAPG
YSLDQAHHLP IEMDPLIANN SGVNKRQITD LVDQSIQINA HCFVVTADNR YILICGFWDK
SFRVYSTETG KLTQIVFGHW DVVTCLARSE SYIGGDCYIV SGSRDATLLL WYWSGRHHII
GDNPNSSDYP APRAVLTGHD HEVVCVSVCA ELGLVISGAK EGPCLVHTIT GDLLRALEGP
ENCLFPRLIS VSSEGHCIIY YERGRFSNFS INGKLLAQME INDSTRAILL SSDGQNLVTG
GDNGVVEVWQ ACDFKQLYIY PGCDAGIRAM DLSHDQRTLI TGMASGSIVA FNIDFNRWHY
EHQNRY
