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Q9NRD0

- FBX8_HUMAN

UniProt

Q9NRD0 - FBX8_HUMAN

Protein

F-box only protein 8

Gene

FBXO8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May promote guanine-nucleotide exchange on an ARF. Promotes the activation of ARF through replacement of GDP with GTP Potential.Curated

    GO - Molecular functioni

    1. ARF guanyl-nucleotide exchange factor activity Source: InterPro

    GO - Biological processi

    1. actin cytoskeleton organization Source: RefGenome
    2. positive regulation of GTPase activity Source: GOC
    3. regulation of ARF protein signal transduction Source: InterPro
    4. ubiquitin-dependent protein catabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Guanine-nucleotide releasing factor

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    F-box only protein 8
    Alternative name(s):
    F-box/SEC7 protein FBS
    Gene namesi
    Name:FBXO8
    Synonyms:FBS, FBX8
    ORF Names:DC10, UNQ1877/PRO4320
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:13587. FBXO8.

    Subcellular locationi

    GO - Cellular componenti

    1. cell junction Source: RefGenome
    2. nucleus Source: RefGenome
    3. ubiquitin ligase complex Source: UniProtKB

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA28048.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 319319F-box only protein 8PRO_0000120218Add
    BLAST

    Proteomic databases

    PaxDbiQ9NRD0.
    PRIDEiQ9NRD0.

    PTM databases

    PhosphoSiteiQ9NRD0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NRD0.
    BgeeiQ9NRD0.
    CleanExiHS_FBXO8.
    GenevestigatoriQ9NRD0.

    Organism-specific databases

    HPAiHPA002885.

    Interactioni

    Protein-protein interaction databases

    BioGridi117653. 6 interactions.
    STRINGi9606.ENSP00000377280.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NRD0.
    SMRiQ9NRD0. Positions 146-311.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini68 – 11144F-boxPROSITE-ProRule annotationAdd
    BLAST
    Domaini146 – 276131SEC7PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 F-box domain.PROSITE-ProRule annotation
    Contains 1 SEC7 domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG5307.
    HOGENOMiHOG000006813.
    HOVERGENiHBG018990.
    InParanoidiQ9NRD0.
    KOiK10294.
    OMAiSNTSHRK.
    OrthoDBiEOG7K3TM8.
    PhylomeDBiQ9NRD0.

    Family and domain databases

    Gene3Di1.10.1000.11. 1 hit.
    InterProiIPR001810. F-box_dom.
    IPR023394. Sec7_alpha_orthog.
    IPR000904. Sec7_dom.
    [Graphical view]
    PfamiPF12937. F-box-like. 1 hit.
    PF01369. Sec7. 1 hit.
    [Graphical view]
    SMARTiSM00222. Sec7. 1 hit.
    [Graphical view]
    SUPFAMiSSF48425. SSF48425. 1 hit.
    SSF81383. SSF81383. 1 hit.
    PROSITEiPS50181. FBOX. 1 hit.
    PS50190. SEC7. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NRD0-1) [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

    MGQGLWRVVR NQQLQQEGYS EQGYLTREQS RRMAASNISN TNHRKQVQGG    50
    IDIYHLLKAR KSKEQEGFIN LEMLPPELSF TILSYLNATD LCLASCVWQD 100
    LANDELLWQG LCKSTWGHCS IYNKNPPLGF SFRKLYMQLD EGSLTFNANP 150
    DEGVNYFMSK GILDDSPKEI AKFIFCTRTL NWKKLRIYLD ERRDVLDDLV 200
    TLHNFRNQFL PNALREFFRH IHAPEERGEY LETLITKFSH RFCACNPDLM 250
    RELGLSPDAV YVLCYSLILL SIDLTSPHVK NKMSKREFIR NTRRAAQNIS 300
    EDFVGHLYDN IYLIGHVAA 319
    Length:319
    Mass (Da):37,068
    Last modified:October 1, 2000 - v1
    Checksum:i125D6D6B57CA7C79
    GO
    Isoform 2 (identifier: Q9NRD0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         59-99: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:278
    Mass (Da):32,426
    Checksum:iD0615626C2EBF06F
    GO

    Sequence cautioni

    The sequence AAF04517.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti34 – 341A → D in AAQ89083. (PubMed:12975309)Curated
    Sequence conflicti119 – 1191C → W in AAF86868. 1 PublicationCurated
    Sequence conflicti135 – 1351L → V in AAF86868. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511I → M.1 Publication
    Corresponds to variant rs17857220 [ dbSNP | Ensembl ].
    VAR_071118
    Natural varianti156 – 1561Y → H.1 Publication
    Corresponds to variant rs17854000 [ dbSNP | Ensembl ].
    VAR_071119
    Natural varianti269 – 2691L → I in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036157

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei59 – 9941Missing in isoform 2. 1 PublicationVSP_055885Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF174596 mRNA. Translation: AAF04517.1. Different initiation.
    AF233224 mRNA. Translation: AAF67154.1.
    AF201932 mRNA. Translation: AAF86868.1.
    AY358721 mRNA. Translation: AAQ89083.1.
    AK314483 mRNA. Translation: BAG37087.1.
    AC097653 Genomic DNA. No translation available.
    CH471056 Genomic DNA. Translation: EAX04741.1.
    CH471056 Genomic DNA. Translation: EAX04742.1.
    CH471056 Genomic DNA. Translation: EAX04744.1.
    BC014679 mRNA. Translation: AAH14679.1.
    BC040456 mRNA. Translation: AAH40456.1.
    CCDSiCCDS3820.1.
    RefSeqiNP_036312.2. NM_012180.2.
    UniGeneiHs.76917.

    Genome annotation databases

    EnsembliENST00000393674; ENSP00000377280; ENSG00000164117. [Q9NRD0-1]
    ENST00000503293; ENSP00000422905; ENSG00000164117. [Q9NRD0-2]
    GeneIDi26269.
    KEGGihsa:26269.
    UCSCiuc003itp.3. human.

    Polymorphism databases

    DMDMi13124142.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF174596 mRNA. Translation: AAF04517.1 . Different initiation.
    AF233224 mRNA. Translation: AAF67154.1 .
    AF201932 mRNA. Translation: AAF86868.1 .
    AY358721 mRNA. Translation: AAQ89083.1 .
    AK314483 mRNA. Translation: BAG37087.1 .
    AC097653 Genomic DNA. No translation available.
    CH471056 Genomic DNA. Translation: EAX04741.1 .
    CH471056 Genomic DNA. Translation: EAX04742.1 .
    CH471056 Genomic DNA. Translation: EAX04744.1 .
    BC014679 mRNA. Translation: AAH14679.1 .
    BC040456 mRNA. Translation: AAH40456.1 .
    CCDSi CCDS3820.1.
    RefSeqi NP_036312.2. NM_012180.2.
    UniGenei Hs.76917.

    3D structure databases

    ProteinModelPortali Q9NRD0.
    SMRi Q9NRD0. Positions 146-311.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117653. 6 interactions.
    STRINGi 9606.ENSP00000377280.

    PTM databases

    PhosphoSitei Q9NRD0.

    Polymorphism databases

    DMDMi 13124142.

    Proteomic databases

    PaxDbi Q9NRD0.
    PRIDEi Q9NRD0.

    Protocols and materials databases

    DNASUi 26269.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000393674 ; ENSP00000377280 ; ENSG00000164117 . [Q9NRD0-1 ]
    ENST00000503293 ; ENSP00000422905 ; ENSG00000164117 . [Q9NRD0-2 ]
    GeneIDi 26269.
    KEGGi hsa:26269.
    UCSCi uc003itp.3. human.

    Organism-specific databases

    CTDi 26269.
    GeneCardsi GC04M175157.
    HGNCi HGNC:13587. FBXO8.
    HPAi HPA002885.
    MIMi 605649. gene.
    neXtProti NX_Q9NRD0.
    PharmGKBi PA28048.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5307.
    HOGENOMi HOG000006813.
    HOVERGENi HBG018990.
    InParanoidi Q9NRD0.
    KOi K10294.
    OMAi SNTSHRK.
    OrthoDBi EOG7K3TM8.
    PhylomeDBi Q9NRD0.

    Miscellaneous databases

    GenomeRNAii 26269.
    NextBioi 48553.
    PROi Q9NRD0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NRD0.
    Bgeei Q9NRD0.
    CleanExi HS_FBXO8.
    Genevestigatori Q9NRD0.

    Family and domain databases

    Gene3Di 1.10.1000.11. 1 hit.
    InterProi IPR001810. F-box_dom.
    IPR023394. Sec7_alpha_orthog.
    IPR000904. Sec7_dom.
    [Graphical view ]
    Pfami PF12937. F-box-like. 1 hit.
    PF01369. Sec7. 1 hit.
    [Graphical view ]
    SMARTi SM00222. Sec7. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48425. SSF48425. 1 hit.
    SSF81383. SSF81383. 1 hit.
    PROSITEi PS50181. FBOX. 1 hit.
    PS50190. SEC7. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "cDNA cloning and expression analysis of new members of the mammalian F-box protein family."
      Ilyin G.P., Rialland M., Pigeon C., Guguen-Guillouzo C.
      Genomics 67:40-47(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    3. "Novel genes expressed in human dendritic cell."
      Li Y., Peng Y., Qian B., Zhang Z., Han Z., Fu G., Chen Z.
      Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Dendritic cell.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    5. "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).
    6. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(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] (ISOFORMS 1 AND 2), VARIANTS MET-51 AND HIS-156.
      Tissue: Brain and Ovary.
    9. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-269.

    Entry informationi

    Entry nameiFBX8_HUMAN
    AccessioniPrimary (citable) accession number: Q9NRD0
    Secondary accession number(s): B2RB40
    , D3DP41, G5E9Z0, Q6UWN4, Q8IWE1, Q9NRP5, Q9UKC4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 120 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3