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Q00994

- BEX3_HUMAN

UniProt

Q00994 - BEX3_HUMAN

Protein

Protein BEX3

Gene

NGFRAP1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. 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.By similarity

    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

    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.By similarity

    GO - Cellular componenti

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

    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.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.By similarity

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

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

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi77 – 8711Nuclear export signalBy 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.Curated

    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. 1 PublicationVSP_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

    EnsembliENST00000361298; 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 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

    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: October 1, 2014
    This is version 127 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