Human Gene BEX3 (ENST00000361298.9) from GENCODE V44
  Description: Homo sapiens brain expressed X-linked 3 (BEX3), transcript variant 1, mRNA. (from RefSeq NM_206917)
Gencode Transcript: ENST00000361298.9
Gencode Gene: ENSG00000166681.14
Transcript (Including UTRs)
   Position: hg38 chrX:103,376,538-103,378,164 Size: 1,627 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chrX:103,377,522-103,377,827 Size: 306 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:103,376,538-103,378,164)mRNA (may differ from genome)Protein (101 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
LynxMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BEX3_HUMAN
DESCRIPTION: RecName: Full=Protein BEX3; AltName: Full=Brain-expressed X-linked protein 3; AltName: Full=Nerve growth factor receptor-associated protein 1; AltName: Full=Ovarian granulosa cell 13.0 kDa protein HGR74; AltName: Full=p75NTR-associated cell death executor;
FUNCTION: May be a signaling adapter molecule involved in p75NTR- mediated apoptosis induced by NGF. Plays a role in zinc-triggered neuronal death (By similarity). May play an important role in the pathogenesis of neurogenetic diseases.
SUBUNIT: Self-associates. Interacts with 14-3-3 epsilon (YWHAE). Interacts with DIABLO/SMAC (By similarity). Binds to the DEATH domain of p75NTR/NGFR.
INTERACTION: Q92574:TSC1; NbExp=5; IntAct=EBI-741753, EBI-1047085;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and the nucleus. Associates with replicating mitochondria (By similarity).
TISSUE SPECIFICITY: Found in ovarian granulosa cells, testis, prostate and seminal vesicle tissue. High levels also detected in liver.
DOMAIN: The nuclear export signal is required for export from the nucleus and the interactions with itself and p75NTR/NGFR (By similarity).
PTM: Ubiquitinated. Degraded by the proteasome (By similarity).
MISCELLANEOUS: Binds transition metals (By similarity).
SIMILARITY: Belongs to the BEX family.
SEQUENCE CAUTION: Sequence=CAI41523.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 243.81 RPKM in Brain - Hypothalamus
Total median expression: 4761.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -59.90167-0.359 Picture PostScript Text
3' UTR -60.00337-0.178 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007623 - BEX
IPR021156 - TF_A-like/BEX-like

Pfam Domains:
PF04538 - Brain expressed X-linked like family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SA6 - Model


ModBase Predicted Comparative 3D Structure on Q00994
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005123 death receptor binding
GO:0005163 nerve growth factor receptor binding
GO:0005515 protein binding
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006915 apoptotic process
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0007275 multicellular organism development
GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043281 regulation of cysteine-type endopeptidase activity involved in apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  JD026357 - Sequence 7381 from Patent EP1572962.
AK315371 - Homo sapiens cDNA, FLJ96417, Homo sapiens nerve growth factor receptor (TNFRSF16) associatedprotein 1 (NGFRAP1), mRNA.
AK057859 - Homo sapiens cDNA FLJ25130 fis, clone CBR06630, highly similar to OVARIAN GRANULOSA CELL 13.0 KDA PROTEIN HGR74.
BC051713 - Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1, mRNA (cDNA clone IMAGE:5303642).
AY833562 - Homo sapiens chromosome X brain expressed X-linked 3 (BEX3) mRNA, complete cds.
BC003190 - Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1, mRNA (cDNA clone MGC:802 IMAGE:3357965), complete cds.
AF187064 - Homo sapiens p75NTR-associated cell death executor (NADE) mRNA, complete cds.
M38188 - Homo sapiens unknown mRNAs.
AB464628 - Synthetic construct DNA, clone: pF1KB8738, Homo sapiens NGFRAP1 gene for nerve growth factor receptor (TNFRSF16) associated protein 1, without stop codon, in Flexi system.
HQ447887 - Synthetic construct Homo sapiens clone IMAGE:100071240; CCSB003400_02 nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1) gene, encodes complete protein.
KJ893588 - Synthetic construct Homo sapiens clone ccsbBroadEn_02982 NGFRAP1 gene, encodes complete protein.
JD556094 - Sequence 537118 from Patent EP1572962.
JD537670 - Sequence 518694 from Patent EP1572962.
JD289808 - Sequence 270832 from Patent EP1572962.
JD374960 - Sequence 355984 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04722 - Neurotrophin signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q00994 (Reactome details) participates in the following event(s):

R-HSA-193650 p75NTR binds to NADE
R-HSA-204981 14-3-3epsilon attentuates NADE-related apoptosis
R-HSA-205117 p75NTR:NADE promotes caspase2/3 activation
R-HSA-205025 NADE modulates death signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-73887 Death Receptor Signalling
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2RD17, BEX3_HUMAN, D3DXA3, DXS6984E, ENST00000361298.1, ENST00000361298.2, ENST00000361298.3, ENST00000361298.4, ENST00000361298.5, ENST00000361298.6, ENST00000361298.7, ENST00000361298.8, NADE, NGFRAP1, NM_206917, Q00994, Q5JQT4, Q5JQT5, uc004ekh.1, uc004ekh.2, uc004ekh.3, uc004ekh.4, uc004ekh.5, uc004ekh.6
UCSC ID: ENST00000361298.9
RefSeq Accession: NM_206917
Protein: Q00994 (aka BEX3_HUMAN)
CCDS: CCDS14509.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.