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Q9HBH7

- BEX1_HUMAN

UniProt

Q9HBH7 - BEX1_HUMAN

Protein

Protein BEX1

Gene

BEX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Signaling adapter molecule involved in p75NTR/NGFR signaling. Plays a role in cell cycle progression and neuronal differentiation. Inhibits neuronal differentiation in response to nerve growth factor (NGF). May act as a link between the cell cycle and neurotrophic factor signaling, possibly by functioning as an upstream modulator of receptor signaling, coordinating biological responses to external signals with internal cellular states By similarity.By similarity

    GO - Molecular functioni

    1. RNA polymerase II activating transcription factor binding Source: BHF-UCL

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. nervous system development Source: UniProtKB-KW
    3. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    4. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Neurogenesis

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein BEX1
    Alternative name(s):
    Brain-expressed X-linked protein 1
    Gene namesi
    Name:BEX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:1036. BEX1.

    Subcellular locationi

    Nucleus. Cytoplasm
    Note: Shuttles between the cytoplasm and the nucleus.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. nucleus Source: UniProtKB-SubCell
    3. transcription factor complex Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25340.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 125125Protein BEX1PRO_0000229772Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei102 – 1021PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated. Phosphorylation of Ser-102 protects it from the proteasome By similarity.By similarity
    Ubiquitinated. Degraded by the proteasome By similarity.By similarity

    Keywords - PTMi

    Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiQ9HBH7.
    PRIDEiQ9HBH7.

    PTM databases

    PhosphoSiteiQ9HBH7.

    Expressioni

    Tissue specificityi

    Expressed in central nervous system, with high level in pituitary, cerebellum and temporal lobe. Expressed in lung, skeletal muscle, peripheral blood leukocyte, stomach, lymph node, trachea and bone marrow. Highly expressed in acute myeloid leukemia.3 Publications

    Gene expression databases

    BgeeiQ9HBH7.
    CleanExiHS_BEX1.
    GenevestigatoriQ9HBH7.

    Interactioni

    Subunit structurei

    Interacts with neurotrophin receptor p75NTR/NGFR. Interacts with OMP By similarity.By similarity

    Protein-protein interaction databases

    BioGridi120961. 3 interactions.
    IntActiQ9HBH7. 1 interaction.
    MINTiMINT-8247480.
    STRINGi9606.ENSP00000361813.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HBH7.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BEX family.Curated

    Phylogenomic databases

    eggNOGiNOG44140.
    HOGENOMiHOG000236300.
    HOVERGENiHBG080240.
    InParanoidiQ9HBH7.
    OMAiLEAGEYC.
    OrthoDBiEOG7XPZ7S.
    PhylomeDBiQ9HBH7.
    TreeFamiTF337909.

    Family and domain databases

    InterProiIPR007623. BEX.
    IPR021156. TF_A-like/BEX-like.
    [Graphical view]
    PfamiPF04538. BEX. 1 hit.
    [Graphical view]
    PIRSFiPIRSF008633. BEX. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9HBH7-1 [UniParc]FASTAAdd to Basket

    « Hide

    MESKEKRAVN SLSMENANQE NEEKEQVANK GEPLALPLDA GEYCVPRGNR    50
    RRFRVRQPIL QYRWDMMHRL GEPQARMREE NMERIGEEVR QLMEKLREKQ 100
    LSHSLRAVST DPPHHDHHDE FCLMP 125
    Length:125
    Mass (Da):14,860
    Last modified:April 4, 2006 - v2
    Checksum:i2406DD71F7E663D2
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti7 – 71R → L in AAG09752. (PubMed:11989783)Curated
    Sequence conflicti88 – 881E → G in AAG09752. (PubMed:11989783)Curated
    Sequence conflicti100 – 1001Q → R in BAF83647. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91V → L.
    Corresponds to variant rs3174500 [ dbSNP | Ensembl ].
    VAR_042667
    Natural varianti11 – 111S → N.
    Corresponds to variant rs1045058 [ dbSNP | Ensembl ].
    VAR_042668
    Natural varianti13 – 131S → I.
    Corresponds to variant rs1045061 [ dbSNP | Ensembl ].
    VAR_042669
    Natural varianti14 – 141M → V.
    Corresponds to variant rs1045063 [ dbSNP | Ensembl ].
    VAR_042670
    Natural varianti17 – 171A → V.
    Corresponds to variant rs1045065 [ dbSNP | Ensembl ].
    VAR_042671
    Natural varianti40 – 401A → V.
    Corresponds to variant rs709036 [ dbSNP | Ensembl ].
    VAR_025756
    Natural varianti66 – 661M → I.
    Corresponds to variant rs1045082 [ dbSNP | Ensembl ].
    VAR_025757

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF237783 mRNA. Translation: AAG09752.1.
    AY833561 mRNA. Translation: AAX40679.1.
    AF183416 mRNA. Translation: AAG09685.1.
    AF220189 mRNA. Translation: AAF67654.1.
    AK290958 mRNA. Translation: BAF83647.1.
    AL008708 Genomic DNA. Translation: CAI42418.1.
    BC126427 mRNA. Translation: AAI26428.1.
    BC126429 mRNA. Translation: AAI26430.1.
    CCDSiCCDS35354.1.
    RefSeqiNP_060946.3. NM_018476.3.
    UniGeneiHs.334370.

    Genome annotation databases

    EnsembliENST00000372728; ENSP00000361813; ENSG00000133169.
    GeneIDi55859.
    KEGGihsa:55859.
    UCSCiuc004ejt.1. human.

    Polymorphism databases

    DMDMi91208332.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF237783 mRNA. Translation: AAG09752.1 .
    AY833561 mRNA. Translation: AAX40679.1 .
    AF183416 mRNA. Translation: AAG09685.1 .
    AF220189 mRNA. Translation: AAF67654.1 .
    AK290958 mRNA. Translation: BAF83647.1 .
    AL008708 Genomic DNA. Translation: CAI42418.1 .
    BC126427 mRNA. Translation: AAI26428.1 .
    BC126429 mRNA. Translation: AAI26430.1 .
    CCDSi CCDS35354.1.
    RefSeqi NP_060946.3. NM_018476.3.
    UniGenei Hs.334370.

    3D structure databases

    ProteinModelPortali Q9HBH7.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120961. 3 interactions.
    IntActi Q9HBH7. 1 interaction.
    MINTi MINT-8247480.
    STRINGi 9606.ENSP00000361813.

    PTM databases

    PhosphoSitei Q9HBH7.

    Polymorphism databases

    DMDMi 91208332.

    Proteomic databases

    PaxDbi Q9HBH7.
    PRIDEi Q9HBH7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372728 ; ENSP00000361813 ; ENSG00000133169 .
    GeneIDi 55859.
    KEGGi hsa:55859.
    UCSCi uc004ejt.1. human.

    Organism-specific databases

    CTDi 55859.
    GeneCardsi GC0XM102317.
    HGNCi HGNC:1036. BEX1.
    MIMi 300690. gene.
    neXtProti NX_Q9HBH7.
    PharmGKBi PA25340.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG44140.
    HOGENOMi HOG000236300.
    HOVERGENi HBG080240.
    InParanoidi Q9HBH7.
    OMAi LEAGEYC.
    OrthoDBi EOG7XPZ7S.
    PhylomeDBi Q9HBH7.
    TreeFami TF337909.

    Miscellaneous databases

    GeneWikii BEX1.
    GenomeRNAii 55859.
    NextBioi 61147.
    PROi Q9HBH7.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9HBH7.
    CleanExi HS_BEX1.
    Genevestigatori Q9HBH7.

    Family and domain databases

    InterProi IPR007623. BEX.
    IPR021156. TF_A-like/BEX-like.
    [Graphical view ]
    Pfami PF04538. BEX. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF008633. BEX. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and expression pattern of a spermatogenesis-related gene, BEX1, mapped to chromosome Xq22."
      Yang Q.-S., Xia F., Gu S.-H., Yuan H.-L., Chen J.-Z., Yang Q.-S., Ying K., Xie Y., Mao Y.-M.
      Biochem. Genet. 40:1-12(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
      Tissue: Fetal brain.
    2. "Characterization of the Bex gene family in humans, mice, and rats."
      Alvarez E., Zhou W., Witta S.E., Freed C.R.
      Gene 357:18-28(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Adrenal gland and Hypothalamus.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    7. "Expression of BEX1 in acute myeloid leukemia with MLL rearrangements."
      Quentmeier H., Tonelli R., Geffers R., Pession A., Uphoff C.C., Drexler H.G.
      Leukemia 19:1488-1489(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiBEX1_HUMAN
    AccessioniPrimary (citable) accession number: Q9HBH7
    Secondary accession number(s): A0AVN1, A8K4J3, Q9NZ33
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 4, 2006
    Last sequence update: April 4, 2006
    Last modified: October 1, 2014
    This is version 83 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Caution

    Was named BEX2 by some authors.Curated

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3