Q9HBH7 (BEX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein BEX1

Alternative name(s):
Brain-expressed X-linked protein 1

Gene names

Name:

BEX1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	125 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Molecular function	Developmental protein
PTM	Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW nervous system development Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of sequence-specific DNA binding transcription factor activity Inferred from direct assay PubMed 16314316. Source: BHF-UCL positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 16314316. Source: BHF-UCL
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell transcription factor complex Inferred from direct assay PubMed 16314316. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 125	125	Protein BEX1		PRO_0000229772
Amino acid modifications
	Modified residue	102	1	Phosphoserine By similarity
Natural variations
	Natural variant	9	1	V → L. Corresponds to variant rs3174500 [ dbSNP | Ensembl ].		VAR_042667
	Natural variant	11	1	S → N. Corresponds to variant rs1045058 [ dbSNP | Ensembl ].		VAR_042668
	Natural variant	13	1	S → I. Corresponds to variant rs1045061 [ dbSNP | Ensembl ].		VAR_042669
	Natural variant	14	1	M → V. Corresponds to variant rs1045063 [ dbSNP | Ensembl ].		VAR_042670
	Natural variant	17	1	A → V. Corresponds to variant rs1045065 [ dbSNP | Ensembl ].		VAR_042671
	Natural variant	40	1	A → V. Corresponds to variant rs709036 [ dbSNP | Ensembl ].		VAR_025756
	Natural variant	66	1	M → I. Corresponds to variant rs1045082 [ dbSNP | Ensembl ].		VAR_025757
Experimental info
	Sequence conflict	7	1	R → L in AAG09752. Ref.1
	Sequence conflict	88	1	E → G in AAG09752. Ref.1
	Sequence conflict	100	1	Q → R in BAF83647. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q9HBH7 [UniParc]. Last modified April 4, 2006. Version 2. Checksum: 2406DD71F7E663D2	FASTA	125	14,860
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
+	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.
IPI	IPI00020533.
RefSeq	NP_060946.3. NM_018476.3.
UniGene	Hs.334370.
3D structure databases
ProteinModelPortal	Q9HBH7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000361813.
PTM databases
PhosphoSite	Q9HBH7.
Polymorphism databases
DMDM	91208332.
Proteomic databases
PaxDb	Q9HBH7.
PRIDE	Q9HBH7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000372728; ENSP00000361813; ENSG00000133169.
GeneID	55859.
KEGG	hsa:55859.
UCSC	uc004ejt.1. human.
Organism-specific databases
CTD	55859.
GeneCards	GC0XM102317.
HGNC	HGNC:1036. BEX1.
MIM	300690. gene.
neXtProt	NX_Q9HBH7.
PharmGKB	PA25340.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG44140.
HOGENOM	HOG000236300.
HOVERGEN	HBG080240.
InParanoid	Q9HBH7.
OMA	LEAGEYC.
OrthoDB	EOG4W6NXJ.
PhylomeDB	Q9HBH7.
Enzyme and pathway databases
Pathway_Interaction_DB	p75ntrpathway. p75(NTR)-mediated signaling.
Gene expression databases
Bgee	Q9HBH7.
CleanEx	HS_BEX1.
Genevestigator	Q9HBH7.
GermOnline	ENSG00000133169. Homo sapiens.
Family and domain databases
InterPro	IPR007623. BEX. IPR021156. TF_A-like/BEX-like. [Graphical view]
Pfam	PF04538. BEX. 1 hit. [Graphical view]
PIRSF	PIRSF008633. BEX. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	55859.
NextBio	61147.
SOURCE	Search...

Entry information

Entry name

BEX1_HUMAN

Accession

Primary (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 3, 2013
This is version 72 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.