Human Gene NGFRAP1 (uc004ekj.1) Description and Page Index
  Description: Homo sapiens nerve growth factor receptor (TNFRSF16) associated protein 1 (NGFRAP1), transcript variant 3, mRNA.
Transcript (Including UTRs)
   Position: hg19 chrX:102,632,109-102,632,999 Size: 891 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chrX:102,632,420-102,632,755 Size: 336 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:102,632,109-102,632,999)mRNA (may differ from genome)Protein (111 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
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;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -105.66311-0.340 Picture PostScript Text
3' UTR -47.52244-0.195 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

- Model

ModBase Predicted Comparative 3D Structure on Q00994
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  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
  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.
JD239956 - Sequence 220980 from Patent EP1572962.
JD301448 - Sequence 282472 from Patent EP1572962.
JD223306 - Sequence 204330 from Patent EP1572962.
JD215502 - Sequence 196526 from Patent EP1572962.
JD540957 - Sequence 521981 from Patent EP1572962.
JD177954 - Sequence 158978 from Patent EP1572962.
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, BEX3_HUMAN, D3DXA3, DXS6984E, NADE, NM_014380, NP_996800, Q00994, Q5JQT4, Q5JQT5
UCSC ID: uc004ekj.1
RefSeq Accession: NM_014380
Protein: Q00994 (aka BEX3_HUMAN)
CCDS: CCDS14508.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_014380.1
exon count: 1CDS single in 3' UTR: no RNA size: 891
ORF size: 336CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 845.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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