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Q9HBH7 (BEX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein BEX1
Alternative name(s):
Brain-expressed X-linked protein 1
Gene names
Name:BEX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length125 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

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

Tissue specificity

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. Ref.1 Ref.2 Ref.7

Post-translational modification

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

Ubiquitinated. Degraded by the proteasome By similarity.

Sequence similarities

Belongs to the BEX family.

Caution

Was named BEX2 by some authors.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 125125Protein BEX1
PRO_0000229772

Amino acid modifications

Modified residue1021Phosphoserine By similarity

Natural variations

Natural variant91V → L.
Corresponds to variant rs3174500 [ dbSNP | Ensembl ].
VAR_042667
Natural variant111S → N.
Corresponds to variant rs1045058 [ dbSNP | Ensembl ].
VAR_042668
Natural variant131S → I.
Corresponds to variant rs1045061 [ dbSNP | Ensembl ].
VAR_042669
Natural variant141M → V.
Corresponds to variant rs1045063 [ dbSNP | Ensembl ].
VAR_042670
Natural variant171A → V.
Corresponds to variant rs1045065 [ dbSNP | Ensembl ].
VAR_042671
Natural variant401A → V.
Corresponds to variant rs709036 [ dbSNP | Ensembl ].
VAR_025756
Natural variant661M → I.
Corresponds to variant rs1045082 [ dbSNP | Ensembl ].
VAR_025757

Experimental info

Sequence conflict71R → L in AAG09752. Ref.1
Sequence conflict881E → G in AAG09752. Ref.1
Sequence conflict1001Q → R in BAF83647. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q9HBH7 [UniParc].

Last modified April 4, 2006. Version 2.
Checksum: 2406DD71F7E663D2

FASTA12514,860
        10         20         30         40         50         60 
MESKEKRAVN SLSMENANQE NEEKEQVANK GEPLALPLDA GEYCVPRGNR RRFRVRQPIL 

        70         80         90        100        110        120 
QYRWDMMHRL GEPQARMREE NMERIGEEVR QLMEKLREKQ LSHSLRAVST DPPHHDHHDE 


FCLMP 

« Hide

References

« Hide 'large scale' references
[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]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_060946.3. NM_018476.3.
UniGeneHs.334370.

3D structure databases

ProteinModelPortalQ9HBH7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120961. 3 interactions.
IntActQ9HBH7. 1 interaction.
MINTMINT-8247480.
STRING9606.ENSP00000361813.

PTM databases

PhosphoSiteQ9HBH7.

Polymorphism databases

DMDM91208332.

Proteomic databases

PaxDbQ9HBH7.
PRIDEQ9HBH7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372728; ENSP00000361813; ENSG00000133169.
GeneID55859.
KEGGhsa:55859.
UCSCuc004ejt.1. human.

Organism-specific databases

CTD55859.
GeneCardsGC0XM102317.
HGNCHGNC:1036. BEX1.
MIM300690. gene.
neXtProtNX_Q9HBH7.
PharmGKBPA25340.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG44140.
HOGENOMHOG000236300.
HOVERGENHBG080240.
InParanoidQ9HBH7.
OMAEAGEYCV.
OrthoDBEOG7XPZ7S.
PhylomeDBQ9HBH7.
TreeFamTF337909.

Gene expression databases

BgeeQ9HBH7.
CleanExHS_BEX1.
GenevestigatorQ9HBH7.

Family and domain databases

InterProIPR007623. BEX.
IPR021156. TF_A-like/BEX-like.
[Graphical view]
PfamPF04538. BEX. 1 hit.
[Graphical view]
PIRSFPIRSF008633. BEX. 1 hit.
ProtoNetSearch...

Other

GeneWikiBEX1.
GenomeRNAi55859.
NextBio61147.
PROQ9HBH7.
SOURCESearch...

Entry information

Entry nameBEX1_HUMAN
AccessionPrimary (citable) accession number: Q9HBH7
Secondary accession number(s): A0AVN1, A8K4J3, Q9NZ33
Entry history
Integrated into UniProtKB/Swiss-Prot: April 4, 2006
Last sequence update: April 4, 2006
Last modified: April 16, 2014
This is version 80 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM