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Q9HBH7

- BEX1_HUMAN

UniProt

Q9HBH7 - BEX1_HUMAN

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Protein

Protein BEX1

Gene

BEX1

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

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
Complete GO annotation...

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-KW
  2. nucleus Source: UniProtKB-KW
  3. transcription factor complex Source: BHF-UCL
Complete GO annotation...

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.
GeneTreeiENSGT00740000115473.
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

        10         20         30         40         50
MESKEKRAVN SLSMENANQE NEEKEQVANK GEPLALPLDA GEYCVPRGNR
60 70 80 90 100
RRFRVRQPIL QYRWDMMHRL GEPQARMREE NMERIGEEVR QLMEKLREKQ
110 120
LSHSLRAVST DPPHHDHHDE FCLMP
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.
GeneTreei ENSGT00740000115473.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 84 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