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Q00994

- BEX3_HUMAN

UniProt

Q00994 - BEX3_HUMAN

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Protein

Protein BEX3

Gene
NGFRAP1, BEX3, DXS6984E, NADE
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. cysteine-type endopeptidase activator activity involved in apoptotic process Source: Reactome
  2. metal ion binding Source: UniProtKB-KW
  3. protein binding Source: IntAct

GO - Biological processi

  1. activation of cysteine-type endopeptidase activity involved in apoptotic process Source: GOC
  2. apoptotic signaling pathway Source: Reactome
  3. extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  4. multicellular organismal development Source: ProtInc
  5. neurotrophin TRK receptor signaling pathway Source: Reactome
  6. regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Keywords - Ligandi

Metal-binding

Enzyme and pathway databases

ReactomeiREACT_13526. NADE modulates death signalling.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein BEX3
Alternative name(s):
Brain-expressed X-linked protein 3
Nerve growth factor receptor-associated protein 1
Ovarian granulosa cell 13.0 kDa protein HGR74
p75NTR-associated cell death executor
Gene namesi
Name:NGFRAP1
Synonyms:BEX3, DXS6984E, NADE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:13388. NGFRAP1.

Subcellular locationi

Nucleus. Cytoplasm
Note: Shuttles between the cytoplasm and the nucleus. Associates with replicating mitochondria By similarity.

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. cytosol Source: Reactome
  3. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31616.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 111111Protein BEX3PRO_0000096688Add
BLAST

Post-translational modificationi

Ubiquitinated. Degraded by the proteasome By similarity.

Keywords - PTMi

Ubl conjugation

Proteomic databases

PaxDbiQ00994.
PRIDEiQ00994.

Expressioni

Tissue specificityi

Found in ovarian granulosa cells, testis, prostate and seminal vesicle tissue. High levels also detected in liver.1 Publication

Gene expression databases

BgeeiQ00994.
CleanExiHS_NGFRAP1.
GenevestigatoriQ00994.

Organism-specific databases

HPAiHPA018886.

Interactioni

Subunit structurei

Self-associates. Interacts with 14-3-3 epsilon (YWHAE). Interacts with DIABLO/SMAC By similarity. Binds to the DEATH domain of p75NTR/NGFR.

Binary interactionsi

WithEntry#Exp.IntActNotes
TSC1Q925745EBI-741753,EBI-1047085

Protein-protein interaction databases

BioGridi117956. 11 interactions.
IntActiQ00994. 13 interactions.
MINTiMINT-1471079.
STRINGi9606.ENSP00000361718.

Structurei

Secondary structure

1
111
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2 – 43
Turni22 – 265
Beta strandi28 – 303
Beta strandi39 – 435

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1SA6model-A1-111[»]
ProteinModelPortaliQ00994.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni68 – 11144Interaction with 14-3-3 epsilon By similarityAdd
BLAST
Regioni68 – 9326Interaction with p75NTR/NGFR By similarityAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi77 – 8711Nuclear export signal By similarityAdd
BLAST

Domaini

The nuclear export signal is required for export from the nucleus and the interactions with itself and p75NTR/NGFR By similarity.

Sequence similaritiesi

Belongs to the BEX family.

Phylogenomic databases

eggNOGiNOG48134.
HOGENOMiHOG000236300.
HOVERGENiHBG080240.
InParanoidiQ00994.
KOiK12465.
OMAiLMANIHQ.
OrthoDBiEOG7T1RF2.
PhylomeDBiQ00994.
TreeFamiTF337909.

Family and domain databases

InterProiIPR007623. BEX.
IPR021156. TF_A-like/BEX-like.
[Graphical view]
PfamiPF04538. BEX. 1 hit.
[Graphical view]
PIRSFiPIRSF008633. BEX. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q00994-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MANIHQENEE MEQPMQNGEE DRPLGGGEGH QPAGNRRGQA RRLAPNFRWA    50
IPNRQINDGM GGDGDDMEIF MEEMREIRRK LRELQLRNCL RILMGELSNH 100
HDHHDEFCLM P 111
Length:111
Mass (Da):12,959
Last modified:June 1, 1994 - v1
Checksum:i29AA0573282C933E
GO
Isoform 2 (identifier: Q00994-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: Missing.

Note: No experimental confirmation available.

Show »
Length:101
Mass (Da):11,762
Checksum:iED263FF37D8E838F
GO

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1010Missing in isoform 2. VSP_046343

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M38188 mRNA. Translation: AAA63232.1.
AF187064 mRNA. Translation: AAF75129.1.
AY833562 mRNA. Translation: AAX40680.1.
AK315371 mRNA. Translation: BAG37764.1.
EL953547 Genomic DNA. No translation available.
AL606763 Genomic DNA. No translation available.
CH471190 Genomic DNA. Translation: EAW54710.1.
CH471190 Genomic DNA. Translation: EAW54712.1.
BC003190 mRNA. Translation: AAH03190.1.
CCDSiCCDS14508.1. [Q00994-1]
CCDS14509.1. [Q00994-2]
PIRiC35826.
RefSeqiNP_055195.1. NM_014380.2. [Q00994-1]
NP_996798.1. NM_206915.2. [Q00994-1]
NP_996800.1. NM_206917.2. [Q00994-2]
UniGeneiHs.448588.

Genome annotation databases

EnsembliENST00000299872; ENSP00000299872; ENSG00000166681. [Q00994-1]
ENST00000361298; ENSP00000354843; ENSG00000166681. [Q00994-2]
ENST00000372634; ENSP00000361717; ENSG00000166681. [Q00994-2]
ENST00000372635; ENSP00000361718; ENSG00000166681. [Q00994-1]
ENST00000372645; ENSP00000361728; ENSG00000166681. [Q00994-1]
GeneIDi27018.
KEGGihsa:27018.
UCSCiuc004ekh.3. human. [Q00994-1]

Polymorphism databases

DMDMi547642.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M38188 mRNA. Translation: AAA63232.1 .
AF187064 mRNA. Translation: AAF75129.1 .
AY833562 mRNA. Translation: AAX40680.1 .
AK315371 mRNA. Translation: BAG37764.1 .
EL953547 Genomic DNA. No translation available.
AL606763 Genomic DNA. No translation available.
CH471190 Genomic DNA. Translation: EAW54710.1 .
CH471190 Genomic DNA. Translation: EAW54712.1 .
BC003190 mRNA. Translation: AAH03190.1 .
CCDSi CCDS14508.1. [Q00994-1 ]
CCDS14509.1. [Q00994-2 ]
PIRi C35826.
RefSeqi NP_055195.1. NM_014380.2. [Q00994-1 ]
NP_996798.1. NM_206915.2. [Q00994-1 ]
NP_996800.1. NM_206917.2. [Q00994-2 ]
UniGenei Hs.448588.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1SA6 model - A 1-111 [» ]
ProteinModelPortali Q00994.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117956. 11 interactions.
IntActi Q00994. 13 interactions.
MINTi MINT-1471079.
STRINGi 9606.ENSP00000361718.

Polymorphism databases

DMDMi 547642.

Proteomic databases

PaxDbi Q00994.
PRIDEi Q00994.

Protocols and materials databases

DNASUi 27018.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000299872 ; ENSP00000299872 ; ENSG00000166681 . [Q00994-1 ]
ENST00000361298 ; ENSP00000354843 ; ENSG00000166681 . [Q00994-2 ]
ENST00000372634 ; ENSP00000361717 ; ENSG00000166681 . [Q00994-2 ]
ENST00000372635 ; ENSP00000361718 ; ENSG00000166681 . [Q00994-1 ]
ENST00000372645 ; ENSP00000361728 ; ENSG00000166681 . [Q00994-1 ]
GeneIDi 27018.
KEGGi hsa:27018.
UCSCi uc004ekh.3. human. [Q00994-1 ]

Organism-specific databases

CTDi 27018.
GeneCardsi GC0XP102631.
HGNCi HGNC:13388. NGFRAP1.
HPAi HPA018886.
MIMi 300361. gene.
neXtProti NX_Q00994.
PharmGKBi PA31616.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG48134.
HOGENOMi HOG000236300.
HOVERGENi HBG080240.
InParanoidi Q00994.
KOi K12465.
OMAi LMANIHQ.
OrthoDBi EOG7T1RF2.
PhylomeDBi Q00994.
TreeFami TF337909.

Enzyme and pathway databases

Reactomei REACT_13526. NADE modulates death signalling.

Miscellaneous databases

ChiTaRSi NGFRAP1. human.
GeneWikii NGFRAP1.
GenomeRNAii 27018.
NextBioi 49532.
PROi Q00994.
SOURCEi Search...

Gene expression databases

Bgeei Q00994.
CleanExi HS_NGFRAP1.
Genevestigatori Q00994.

Family and domain databases

InterProi IPR007623. BEX.
IPR021156. TF_A-like/BEX-like.
[Graphical view ]
Pfami PF04538. BEX. 1 hit.
[Graphical view ]
PIRSFi PIRSF008633. BEX. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of three abundant mRNAs from human ovarian granulosa cells."
    Rapp G., Freudenstein J., Klaudiny J., Mucha J., Wempe F., Zimmer M., Scheit K.H.
    DNA Cell Biol. 9:479-485(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Ovary.
  2. "NADE, a p75NTR-associated cell death executor, is involved in signal transduction mediated by the common neurotrophin receptor p75NTR."
    Mukai J., Hachiya T., Shoji-Hoshino S., Kimura M.T., Nadano D., Suvanto P., Hanaoka T., Li Y., Irie S., Greene L.A., Sato T.-A.
    J. Biol. Chem. 275:17566-17570(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHARACTERIZATION.
  3. "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] (ISOFORM 1), TISSUE SPECIFICITY.
  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] (ISOFORM 1).
    Tissue: Cerebellum.
  5. "A comparative gene expression profile of the whole eye from human, mouse, and guinea pig."
    Zhou X., Wang W., Lu F., Hu S., Jiang L., Yan D., Zhang X., Yu X., Yu J., Qu J.
    Mol. Vis. 13:2214-2221(2007)
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Eye.
  6. "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].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] (ISOFORM 1).
    Tissue: Eye.
  9. "Theoretical model for p75NTR-associated cell death executor."
    Arunkumar S.
    Submitted (JAN-2005) to the PDB data bank
    Cited for: 3D-STRUCTURE MODELING OF 1-111.

Entry informationi

Entry nameiBEX3_HUMAN
AccessioniPrimary (citable) accession number: Q00994
Secondary accession number(s): B2RD17
, D3DXA3, Q5JQT4, Q5JQT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: September 3, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

Binds transition metals By similarity.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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