U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    BEX1 brain expressed X-linked 1 [ Homo sapiens (human) ]

    Gene ID: 55859, updated on 27-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    BEX1provided by HGNC
    Official Full Name
    brain expressed X-linked 1provided by HGNC
    Primary source
    HGNC:HGNC:1036
    See related
    Ensembl:ENSG00000133169 MIM:300690; AllianceGenome:HGNC:1036
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BEX2; HBEX2; HGR74-h
    Summary
    Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of DNA-binding transcription factor activity and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: The BEX1 and BEX2 genes appear to have undergone gene conversion, exchanging bits of coding sequence with each other. This complicates determination of orthologs in other species. For this reason, gene name assignments may not be consistent between species. [06 Dec 2023]
    Expression
    Biased expression in brain (RPKM 178.4), testis (RPKM 38.4) and 3 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See BEX1 in Genome Data Viewer
    Location:
    Xq22.1; Xq22
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (103062651..103064171, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (101507581..101509098, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (102317579..102319099, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 630 Neighboring gene RAB40A like Neighboring gene NUDT19 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 49 Neighboring gene zinc finger protein 770 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:102358711-102359380 Neighboring gene nuclear RNA export factor 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:102438681-102439434 Neighboring gene ribosomal protein SA pseudogene 59

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling. Zhuang N, et al. Cell Signal, 2023 Aug. PMID 37209973
    2. Expression of BEX1 in acute myeloid leukemia with MLL rearrangements. Quentmeier H, et al. Leukemia, 2005 Aug. PMID 15920485
    3. Inhibition of apoptosis by downregulation of hBex1, a novel mechanism, contributes to the chemoresistance of Bcr/Abl+ leukemic cells. Ding K, et al. Carcinogenesis, 2009 Jan. PMID 19028701
    4. Epigenetic genome-wide analysis identifies BEX1 as a candidate tumour suppressor gene in paediatric intracranial ependymoma. Karakoula K, et al. Cancer Lett, 2014 Apr 28. PMID 24333734
    5. Low expression of BEX1 predicts poor prognosis in patients with esophageal squamous cell cancer. Geng HT, et al. Oncol Rep, 2018 Nov. PMID 30132532

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BEX1 supports the stemness of hepatoblastoma by facilitating Warburg effect in a PPARgamma/PDK1 dependent manner.
      Title: BEX1 supports the stemness of hepatoblastoma by facilitating Warburg effect in a PPARγ/PDK1 dependent manner.
    2. BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling.
      Title: BEX1 mediates sorafenib resistance in hepatocellular carcinoma by regulating AKT signaling.
    3. DNMT1-mediated methylation of BEX1 regulates stemness and tumorigenicity in liver cancer.
      Title: DNMT1-mediated methylation of BEX1 regulates stemness and tumorigenicity in liver cancer.
    4. BEX1 Is Differentially Expressed in Aldosterone-Producing Adenomas and Protects Human Adrenocortical Cells From Ferroptosis.
      Title: BEX1 Is Differentially Expressed in Aldosterone-Producing Adenomas and Protects Human Adrenocortical Cells From Ferroptosis.
    5. BEX1 and BEX4 Induce GBM Progression through Regulation of Actin Polymerization and Activation of YAP/TAZ Signaling.
      Title: BEX1 and BEX4 Induce GBM Progression through Regulation of Actin Polymerization and Activation of YAP/TAZ Signaling.
    6. BEX1 was downregulated in esophageal squamous cell cancer (ESCC) tissues compared to adjacent normal tissues, and low BEX1 expression was significantly associated with larger tumor volume, advanced clinical, and poor survival in patients with ESCC.
      Title: Low expression of BEX1 predicts poor prognosis in patients with esophageal squamous cell cancer.
    7. BEX1 functions as an mRNA-dependent effector that augments pathology-promoting gene expression during heart failure.
      Title: BEX1 is an RNA-dependent mediator of cardiomyopathy.
    8. loss of BEX1 expression in FLT3-ITD driven AML potentiates oncogenic signaling and leads to decreased overall survival
      Title: BEX1 acts as a tumor suppressor in acute myeloid leukemia.
    9. Our results revealed an interaction between BEX1 and BCL-2 and a novel mechanism of imatinib resistance mediated by the BEX1/BCL-2 pathway.
      Title: BEX1 promotes imatinib-induced apoptosis by binding to and antagonizing BCL-2.
    10. Bex family members play important roles in the formation of protein network hubs.
      Title: Brain expressed and X-linked (Bex) proteins are intrinsically disordered proteins (IDPs) and form new signaling hubs.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molecular function inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of protein ubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

    Go to the top of the page Help
    Preferred Names
    protein BEX1
    Names
    brain-expressed X-linked protein 1
    ovarian granulosa cell 13.0 kDa protein hGR74

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018476.4 → NP_060946.3  protein BEX1

      Status: VALIDATED

      Source sequence(s)
      AF237783, AL008708, BM465948
      Consensus CDS
      CCDS35354.1
      UniProtKB/Swiss-Prot
      A0AVN1, A8K4J3, Q9HBH7, Q9NZ33
      Related
      ENSP00000361813.3, ENST00000372728.4
      Conserved Domains (1) summary
      pfam04538
      Location:14 → 121
      BEX; Brain expressed X-linked like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      103062651..103064171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      101507581..101509098 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBH7.2 GenPept UniProtKB/Swiss-Prot:Q9HBH7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools