BEX1_HUMAN
ID BEX1_HUMAN Reviewed; 125 AA.
AC Q9HBH7; A0AVN1; A8K4J3; Q9NZ33;
DT 04-APR-2006, integrated into UniProtKB/Swiss-Prot.
DT 04-APR-2006, sequence version 2.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Protein BEX1;
DE AltName: Full=Brain-expressed X-linked protein 1;
GN Name=BEX1;
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 [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=11989783; DOI=10.1023/a:1014565320998;
RA Yang Q.-S., Xia F., Gu S.-H., Yuan H.-L., Chen J.-Z., Yang Q.-S., Ying K.,
RA Xie Y., Mao Y.-M.;
RT "Cloning and expression pattern of a spermatogenesis-related gene, BEX1,
RT mapped to chromosome Xq22.";
RL Biochem. Genet. 40:1-12(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=15958283; DOI=10.1016/j.gene.2005.05.012;
RA Alvarez E., Zhou W., Witta S.E., Freed C.R.;
RT "Characterization of the Bex gene family in humans, mice, and rats.";
RL Gene 357:18-28(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Adrenal gland, and Hypothalamus;
RX PubMed=10931946; DOI=10.1073/pnas.160270997;
RA Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA Chen M.-D., Chen J.-L.;
RT "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT and full-length cDNA cloning.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [7]
RP TISSUE SPECIFICITY.
RX PubMed=15920485; DOI=10.1038/sj.leu.2403820;
RA Quentmeier H., Tonelli R., Geffers R., Pession A., Uphoff C.C.,
RA Drexler H.G.;
RT "Expression of BEX1 in acute myeloid leukemia with MLL rearrangements.";
RL Leukemia 19:1488-1489(2005).
CC -!- FUNCTION: Signaling adapter molecule involved in p75NTR/NGFR signaling.
CC Plays a role in cell cycle progression and neuronal differentiation.
CC Inhibits neuronal differentiation in response to nerve growth factor
CC (NGF). May act as a link between the cell cycle and neurotrophic factor
CC signaling, possibly by functioning as an upstream modulator of receptor
CC signaling, coordinating biological responses to external signals with
CC internal cellular states (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Interacts with neurotrophin receptor p75NTR/NGFR. Interacts
CC with OMP (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9HBH7; Q9NZN8: CNOT2; NbExp=3; IntAct=EBI-7162175, EBI-743033;
CC Q9HBH7; P78358: CTAG1B; NbExp=5; IntAct=EBI-7162175, EBI-1188472;
CC Q9HBH7; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-7162175, EBI-3867333;
CC Q9HBH7; Q9BS75: KLHL20; NbExp=3; IntAct=EBI-7162175, EBI-10693436;
CC Q9HBH7; Q15323: KRT31; NbExp=3; IntAct=EBI-7162175, EBI-948001;
CC Q9HBH7; O76011: KRT34; NbExp=3; IntAct=EBI-7162175, EBI-1047093;
CC Q9HBH7; P43356: MAGEA2B; NbExp=3; IntAct=EBI-7162175, EBI-5650739;
CC Q9HBH7; Q99750: MDFI; NbExp=6; IntAct=EBI-7162175, EBI-724076;
CC Q9HBH7; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-7162175, EBI-16439278;
CC Q9HBH7; Q5XKR4: OTP; NbExp=3; IntAct=EBI-7162175, EBI-12865884;
CC Q9HBH7; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-7162175, EBI-79165;
CC Q9HBH7; Q8IYF3: TEX11; NbExp=3; IntAct=EBI-7162175, EBI-742397;
CC -!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the
CC cytoplasm and the nucleus. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Expressed in central nervous system, with high
CC level in pituitary, cerebellum and temporal lobe. Expressed in lung,
CC skeletal muscle, peripheral blood leukocyte, stomach, lymph node,
CC trachea and bone marrow. Highly expressed in acute myeloid leukemia.
CC {ECO:0000269|PubMed:11989783, ECO:0000269|PubMed:15920485,
CC ECO:0000269|PubMed:15958283}.
CC -!- PTM: Phosphorylated. Phosphorylation of Ser-102 protects it from the
CC proteasome (By similarity). {ECO:0000250}.
CC -!- PTM: Ubiquitinated. Degraded by the proteasome (By similarity).
CC {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the BEX family. {ECO:0000305}.
CC -!- CAUTION: Was named BEX2 by some authors. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="https://atlasgeneticsoncology.org/gene/44161/bex1-(brain-expressed-x-linked-1)";
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DR EMBL; AF237783; AAG09752.1; -; mRNA.
DR EMBL; AY833561; AAX40679.1; -; mRNA.
DR EMBL; AF183416; AAG09685.1; -; mRNA.
DR EMBL; AF220189; AAF67654.1; -; mRNA.
DR EMBL; AK290958; BAF83647.1; -; mRNA.
DR EMBL; AL008708; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126427; AAI26428.1; -; mRNA.
DR EMBL; BC126429; AAI26430.1; -; mRNA.
DR CCDS; CCDS35354.1; -.
DR RefSeq; NP_060946.3; NM_018476.3.
DR AlphaFoldDB; Q9HBH7; -.
DR BioGRID; 120961; 52.
DR IntAct; Q9HBH7; 25.
DR MINT; Q9HBH7; -.
DR STRING; 9606.ENSP00000361813; -.
DR iPTMnet; Q9HBH7; -.
DR PhosphoSitePlus; Q9HBH7; -.
DR BioMuta; BEX1; -.
DR DMDM; 91208332; -.
DR MassIVE; Q9HBH7; -.
DR PaxDb; Q9HBH7; -.
DR PeptideAtlas; Q9HBH7; -.
DR PRIDE; Q9HBH7; -.
DR ProteomicsDB; 81553; -.
DR Antibodypedia; 28967; 150 antibodies from 21 providers.
DR DNASU; 55859; -.
DR Ensembl; ENST00000372728.4; ENSP00000361813.3; ENSG00000133169.6.
DR GeneID; 55859; -.
DR KEGG; hsa:55859; -.
DR MANE-Select; ENST00000372728.4; ENSP00000361813.3; NM_018476.4; NP_060946.3.
DR UCSC; uc004ejt.2; human.
DR CTD; 55859; -.
DR DisGeNET; 55859; -.
DR GeneCards; BEX1; -.
DR HGNC; HGNC:1036; BEX1.
DR HPA; ENSG00000133169; Tissue enhanced (brain, pituitary gland).
DR MIM; 300690; gene.
DR neXtProt; NX_Q9HBH7; -.
DR OpenTargets; ENSG00000133169; -.
DR PharmGKB; PA25340; -.
DR VEuPathDB; HostDB:ENSG00000133169; -.
DR eggNOG; ENOG502RW3Y; Eukaryota.
DR GeneTree; ENSGT00940000153412; -.
DR HOGENOM; CLU_123122_1_0_1; -.
DR InParanoid; Q9HBH7; -.
DR OMA; AKCPGGA; -.
DR OrthoDB; 1532209at2759; -.
DR PhylomeDB; Q9HBH7; -.
DR TreeFam; TF337909; -.
DR PathwayCommons; Q9HBH7; -.
DR SignaLink; Q9HBH7; -.
DR SIGNOR; Q9HBH7; -.
DR BioGRID-ORCS; 55859; 11 hits in 696 CRISPR screens.
DR ChiTaRS; BEX1; human.
DR GeneWiki; BEX1; -.
DR GenomeRNAi; 55859; -.
DR Pharos; Q9HBH7; Tbio.
DR PRO; PR:Q9HBH7; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9HBH7; protein.
DR Bgee; ENSG00000133169; Expressed in endothelial cell and 169 other tissues.
DR Genevisible; Q9HBH7; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005667; C:transcription regulator complex; IDA:BHF-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:BHF-UCL.
DR GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IDA:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR InterPro; IPR007623; BEX.
DR InterPro; IPR021156; TF_A-like/BEX.
DR PANTHER; PTHR19430; PTHR19430; 1.
DR Pfam; PF04538; BEX; 1.
DR PIRSF; PIRSF008633; BEX; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Developmental protein; Differentiation; Neurogenesis; Nucleus;
KW Phosphoprotein; Reference proteome; Ubl conjugation.
FT CHAIN 1..125
FT /note="Protein BEX1"
FT /id="PRO_0000229772"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 104..125
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 102
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3MKQ2"
FT VARIANT 9
FT /note="V -> L (in dbSNP:rs3174500)"
FT /id="VAR_042667"
FT VARIANT 11
FT /note="S -> N (in dbSNP:rs1045058)"
FT /id="VAR_042668"
FT VARIANT 13
FT /note="S -> I (in dbSNP:rs1045061)"
FT /id="VAR_042669"
FT VARIANT 14
FT /note="M -> V (in dbSNP:rs1045063)"
FT /id="VAR_042670"
FT VARIANT 17
FT /note="A -> V (in dbSNP:rs1045065)"
FT /id="VAR_042671"
FT VARIANT 40
FT /note="A -> V (in dbSNP:rs709036)"
FT /id="VAR_025756"
FT VARIANT 66
FT /note="M -> I (in dbSNP:rs1045082)"
FT /id="VAR_025757"
FT CONFLICT 7
FT /note="R -> L (in Ref. 1; AAG09752)"
FT /evidence="ECO:0000305"
FT CONFLICT 88
FT /note="E -> G (in Ref. 1; AAG09752)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="Q -> R (in Ref. 4; BAF83647)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 125 AA; 14860 MW; 2406DD71F7E663D2 CRC64;
MESKEKRAVN SLSMENANQE NEEKEQVANK GEPLALPLDA GEYCVPRGNR RRFRVRQPIL
QYRWDMMHRL GEPQARMREE NMERIGEEVR QLMEKLREKQ LSHSLRAVST DPPHHDHHDE
FCLMP
