BEND6_HUMAN
ID BEND6_HUMAN Reviewed; 279 AA.
AC Q5SZJ8; Q4G0W8; Q8N662; Q96NS6;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=BEN domain-containing protein 6;
GN Name=BEND6; Synonyms=C6orf65;
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 4).
RC TISSUE=Cerebellum;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
RC TISSUE=Brain;
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 [4]
RP FUNCTION, AND INTERACTION WITH RBPJ.
RX PubMed=23571214; DOI=10.1242/dev.087502;
RA Dai Q., Andreu-Agullo C., Insolera R., Wong L.C., Shi S.H., Lai E.C.;
RT "BEND6 is a nuclear antagonist of Notch signaling during self-renewal of
RT neural stem cells.";
RL Development 140:1892-1902(2013).
CC -!- FUNCTION: Acts as a corepressor of recombining binding protein
CC suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem
CC cells, thereby opposing their self-renewal and promoting neurogenesis
CC (PubMed:23571214). {ECO:0000269|PubMed:23571214}.
CC -!- SUBUNIT: Interacts (via BEN domain) with RBPJ.
CC {ECO:0000269|PubMed:23571214}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6PFX2}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q5SZJ8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SZJ8-2; Sequence=VSP_026963, VSP_026964;
CC Name=3;
CC IsoId=Q5SZJ8-3; Sequence=VSP_026961, VSP_026962;
CC Name=4;
CC IsoId=Q5SZJ8-4; Sequence=VSP_026965, VSP_026966;
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DR EMBL; AK054724; BAB70799.1; -; mRNA.
DR EMBL; AL590037; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC022988; AAH22988.1; -; mRNA.
DR EMBL; BC036119; AAH36119.1; -; mRNA.
DR CCDS; CCDS43476.1; -. [Q5SZJ8-1]
DR CCDS; CCDS83102.1; -. [Q5SZJ8-2]
DR RefSeq; NP_001305468.1; NM_001318539.1. [Q5SZJ8-2]
DR RefSeq; NP_689944.2; NM_152731.2. [Q5SZJ8-1]
DR RefSeq; XP_005248946.1; XM_005248889.1. [Q5SZJ8-3]
DR RefSeq; XP_016865895.1; XM_017010406.1. [Q5SZJ8-1]
DR RefSeq; XP_016865896.1; XM_017010407.1. [Q5SZJ8-1]
DR AlphaFoldDB; Q5SZJ8; -.
DR SMR; Q5SZJ8; -.
DR BioGRID; 128711; 5.
DR IntAct; Q5SZJ8; 3.
DR MINT; Q5SZJ8; -.
DR STRING; 9606.ENSP00000359782; -.
DR PhosphoSitePlus; Q5SZJ8; -.
DR BioMuta; BEND6; -.
DR DMDM; 156630915; -.
DR EPD; Q5SZJ8; -.
DR MassIVE; Q5SZJ8; -.
DR PaxDb; Q5SZJ8; -.
DR PeptideAtlas; Q5SZJ8; -.
DR PRIDE; Q5SZJ8; -.
DR ProteomicsDB; 64070; -. [Q5SZJ8-1]
DR ProteomicsDB; 64072; -. [Q5SZJ8-3]
DR TopDownProteomics; Q5SZJ8-2; -. [Q5SZJ8-2]
DR Antibodypedia; 31120; 84 antibodies from 18 providers.
DR DNASU; 221336; -.
DR Ensembl; ENST00000370746.8; ENSP00000359782.3; ENSG00000151917.18. [Q5SZJ8-1]
DR Ensembl; ENST00000370748.7; ENSP00000359784.3; ENSG00000151917.18. [Q5SZJ8-2]
DR GeneID; 221336; -.
DR KEGG; hsa:221336; -.
DR MANE-Select; ENST00000370746.8; ENSP00000359782.3; NM_152731.3; NP_689944.2.
DR UCSC; uc010kab.4; human. [Q5SZJ8-1]
DR CTD; 221336; -.
DR DisGeNET; 221336; -.
DR GeneCards; BEND6; -.
DR HGNC; HGNC:20871; BEND6.
DR HPA; ENSG00000151917; Group enriched (brain, retina).
DR neXtProt; NX_Q5SZJ8; -.
DR OpenTargets; ENSG00000151917; -.
DR PharmGKB; PA164716559; -.
DR VEuPathDB; HostDB:ENSG00000151917; -.
DR eggNOG; ENOG502SDDU; Eukaryota.
DR GeneTree; ENSGT00390000016954; -.
DR HOGENOM; CLU_065590_0_0_1; -.
DR InParanoid; Q5SZJ8; -.
DR OMA; WRAANNS; -.
DR OrthoDB; 880625at2759; -.
DR PhylomeDB; Q5SZJ8; -.
DR TreeFam; TF335394; -.
DR PathwayCommons; Q5SZJ8; -.
DR SignaLink; Q5SZJ8; -.
DR BioGRID-ORCS; 221336; 6 hits in 1063 CRISPR screens.
DR GenomeRNAi; 221336; -.
DR Pharos; Q5SZJ8; Tdark.
DR PRO; PR:Q5SZJ8; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5SZJ8; protein.
DR Bgee; ENSG00000151917; Expressed in endothelial cell and 135 other tissues.
DR ExpressionAtlas; Q5SZJ8; baseline and differential.
DR Genevisible; Q5SZJ8; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003682; F:chromatin binding; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR GO; GO:0003714; F:transcription corepressor activity; IGI:MGI.
DR GO; GO:0045746; P:negative regulation of Notch signaling pathway; IBA:GO_Central.
DR GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IBA:GO_Central.
DR InterPro; IPR018379; BEN_domain.
DR InterPro; IPR037496; BEND6.
DR PANTHER; PTHR35346; PTHR35346; 1.
DR Pfam; PF10523; BEN; 1.
DR SMART; SM01025; BEN; 1.
DR PROSITE; PS51457; BEN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Neurogenesis; Nucleus;
KW Reference proteome; Repressor; Transcription; Transcription regulation.
FT CHAIN 1..279
FT /note="BEN domain-containing protein 6"
FT /id="PRO_0000295660"
FT DOMAIN 171..271
FT /note="BEN"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00784"
FT REGION 1..65
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 134..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 62..99
FT /evidence="ECO:0000255"
FT COMPBIAS 14..37
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 134..162
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..98
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026961"
FT VAR_SEQ 99..100
FT /note="QV -> ML (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026962"
FT VAR_SEQ 100..106
FT /note="VLPQAVT -> AWSRELP (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026963"
FT VAR_SEQ 107..279
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_026964"
FT VAR_SEQ 181..189
FT /note="IARCNKSKP -> NPLLQGTKL (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026965"
FT VAR_SEQ 190..279
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_026966"
SQ SEQUENCE 279 AA; 31222 MW; 01A36F960DBC048D CRC64;
MQKIVQTDEI TNTQAFRKGK RKRTETMDSE NANSDMDKGQ RDPYSGNAFL PGESSSEDEE
PLAELSKEEL CAKIKSLKEK LTNTRKENSR LRQSLVMLQV LPQAVTQFEE LVGMAEALLK
GGGTMSTSAS TLWRATNNSS PDSFASTCSN SNSNSSSPVS LKPEEEHQTD EKQFQIEKWQ
IARCNKSKPQ KFINDLMQVL YTNEYMATHS LTGAKSSTSR DKAVKPAMNQ NEVQEIIGVT
KQLFPNTDDV SIRRMIGQKL NNCTKKPNLS KNLNSQDIK
