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Q8NFY9

- KBTB8_HUMAN

UniProt

Q8NFY9 - KBTB8_HUMAN

Protein

Kelch repeat and BTB domain-containing protein 8

Gene

KBTBD8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 85 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch repeat and BTB domain-containing protein 8
    Alternative name(s):
    T-cell activation kelch repeat protein
    Short name:
    TA-KRP
    Gene namesi
    Name:KBTBD8
    Synonyms:KIAA1842, TAKRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:30691. KBTBD8.

    Subcellular locationi

    Cytoplasmcytoskeletonspindle 1 Publication. Golgi apparatus 1 Publication
    Note: Translocates to the spindle apparatus during mitosis.

    GO - Cellular componenti

    1. Golgi apparatus Source: UniProtKB-SubCell
    2. spindle Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Golgi apparatus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671641.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 601601Kelch repeat and BTB domain-containing protein 8PRO_0000278220Add
    BLAST

    Proteomic databases

    MaxQBiQ8NFY9.
    PaxDbiQ8NFY9.
    PRIDEiQ8NFY9.

    PTM databases

    PhosphoSiteiQ8NFY9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8NFY9.
    BgeeiQ8NFY9.
    CleanExiHS_KBTBD8.
    GenevestigatoriQ8NFY9.

    Organism-specific databases

    HPAiHPA041285.

    Interactioni

    Protein-protein interaction databases

    BioGridi124128. 2 interactions.
    STRINGi9606.ENSP00000295568.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFY9.
    SMRiQ8NFY9. Positions 29-267, 337-580.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini49 – 11769BTBPROSITE-ProRule annotationAdd
    BLAST
    Domaini152 – 254103BACKAdd
    BLAST
    Repeati336 – 39055Kelch 1Add
    BLAST
    Repeati391 – 44151Kelch 2Add
    BLAST
    Repeati443 – 48139Kelch 3Add
    BLAST
    Repeati483 – 53250Kelch 4Add
    BLAST
    Repeati542 – 58847Kelch 5Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 5 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG328379.
    HOGENOMiHOG000113200.
    HOVERGENiHBG100857.
    InParanoidiQ8NFY9.
    KOiK10475.
    OMAiIFAKCIR.
    OrthoDBiEOG75TMBB.
    PhylomeDBiQ8NFY9.
    TreeFamiTF332672.

    Family and domain databases

    Gene3Di2.120.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR028764. KBTBD8.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view]
    PANTHERiPTHR24412:SF24. PTHR24412:SF24. 1 hit.
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 3 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 3 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NFY9-1) [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

    MAASADLSKS SPTPNGIPSS DPASDAMDPF HACSILKQLK TMYDEGQLTD    50
    IVVEVDHGKT FSCHRNVLAA ISPYFRSMFT SGLTESTQKE VRIVGVEAES 100
    MDLVLNYAYT SRVILTEANV QALFTAASIF QIPSIQDQCA KYMISHLDPQ 150
    NSIGVFIFAD HYGHQELGDR SKEYIRKKFL CVTKEQEFLQ LTKDQLISIL 200
    DSDDLNVDRE EHVYESIIRW FEHEQNEREV HLPEIFAKCI RFPLMEDTFI 250
    EKIPPQFAQA IAKSCVEKGP SNTNGCTQRL GMTASEMIIC FDAAHKHSGK 300
    KQTVPCLDIV TGRVFKLCKP PNDLREVGIL VSPDNDIYIA GGYRPSSSEV 350
    SIDHKAENDF WMYDHSTNRW LSKPSLLRAR IGCKLVYCCG KMYAIGGRVY 400
    EGDGRNSLKS VECYDSRENC WTTVCAMPVA MEFHNAVEYK EKIYVLQGEF 450
    FLFYEPQKDY WGFLTPMTVP RIQGLAAVYK DSIYYIAGTC GNHQRMFTVE 500
    AYDIELNKWT RKKDFPCDQS INPYLKLVLF QNKLHLFVRA TQVTVEEHVF 550
    RTSRKNSLYQ YDDIADQWMK VYETPDRLWD LGRHFECAVA KLYPQCLQKV 600
    L 601
    Length:601
    Mass (Da):68,823
    Last modified:February 20, 2007 - v2
    Checksum:iE5DC921FD9C10BBA
    GO
    Isoform 2 (identifier: Q8NFY9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         6-447: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:159
    Mass (Da):18,827
    Checksum:i951CFB969FFDE36E
    GO

    Sequence cautioni

    The sequence AAI17488.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAM43839.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti198 – 1981S → C in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036082
    Natural varianti405 – 4051R → K in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036083
    Natural varianti420 – 4201C → R.
    Corresponds to variant rs13096789 [ dbSNP | Ensembl ].
    VAR_030694

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei6 – 447442Missing in isoform 2. 1 PublicationVSP_056107Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096640 mRNA. No translation available.
    AK300397 mRNA. Translation: BAG62128.1.
    AC020655 Genomic DNA. No translation available.
    AF385438 mRNA. Translation: AAM43839.1. Different initiation.
    BC117487 mRNA. Translation: AAI17488.1. Different initiation.
    AB058745 mRNA. Translation: BAB47471.1.
    CCDSiCCDS2906.2.
    RefSeqiNP_115894.2. NM_032505.2.
    UniGeneiHs.116665.

    Genome annotation databases

    EnsembliENST00000417314; ENSP00000401878; ENSG00000163376.
    ENST00000460576; ENSP00000419738; ENSG00000163376.
    GeneIDi84541.
    KEGGihsa:84541.
    UCSCiuc003dmy.3. human.

    Polymorphism databases

    DMDMi126215728.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK096640 mRNA. No translation available.
    AK300397 mRNA. Translation: BAG62128.1 .
    AC020655 Genomic DNA. No translation available.
    AF385438 mRNA. Translation: AAM43839.1 . Different initiation.
    BC117487 mRNA. Translation: AAI17488.1 . Different initiation.
    AB058745 mRNA. Translation: BAB47471.1 .
    CCDSi CCDS2906.2.
    RefSeqi NP_115894.2. NM_032505.2.
    UniGenei Hs.116665.

    3D structure databases

    ProteinModelPortali Q8NFY9.
    SMRi Q8NFY9. Positions 29-267, 337-580.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124128. 2 interactions.
    STRINGi 9606.ENSP00000295568.

    PTM databases

    PhosphoSitei Q8NFY9.

    Polymorphism databases

    DMDMi 126215728.

    Proteomic databases

    MaxQBi Q8NFY9.
    PaxDbi Q8NFY9.
    PRIDEi Q8NFY9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000417314 ; ENSP00000401878 ; ENSG00000163376 .
    ENST00000460576 ; ENSP00000419738 ; ENSG00000163376 .
    GeneIDi 84541.
    KEGGi hsa:84541.
    UCSCi uc003dmy.3. human.

    Organism-specific databases

    CTDi 84541.
    GeneCardsi GC03P067132.
    HGNCi HGNC:30691. KBTBD8.
    HPAi HPA041285.
    neXtProti NX_Q8NFY9.
    PharmGKBi PA142671641.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328379.
    HOGENOMi HOG000113200.
    HOVERGENi HBG100857.
    InParanoidi Q8NFY9.
    KOi K10475.
    OMAi IFAKCIR.
    OrthoDBi EOG75TMBB.
    PhylomeDBi Q8NFY9.
    TreeFami TF332672.

    Miscellaneous databases

    GenomeRNAii 84541.
    NextBioi 74398.
    PROi Q8NFY9.

    Gene expression databases

    ArrayExpressi Q8NFY9.
    Bgeei Q8NFY9.
    CleanExi HS_KBTBD8.
    Genevestigatori Q8NFY9.

    Family and domain databases

    Gene3Di 2.120.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR028764. KBTBD8.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR015915. Kelch-typ_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view ]
    PANTHERi PTHR24412:SF24. PTHR24412:SF24. 1 hit.
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 3 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 3 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Fetal brain and Placenta.
    2. "The DNA sequence, annotation and analysis of human chromosome 3."
      Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
      , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
      Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "T lymphocyte activation gene discovery using ink-jet microarrays."
      Mao M., Biery M.C., Kobayashi S.V., Schimmack G.A., Ward T.R., Schelter J.M., Burchard J., He Y.D., Dai H., Leonardson A., Coffey E., Stoughton R., Linsley P.S.
      Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-601 (ISOFORM 1).
      Tissue: T-cell.
    4. "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] OF 18-601 (ISOFORM 1).
      Tissue: Lung.
    5. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
      DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-575 (ISOFORM 1).
      Tissue: Brain.
    6. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    7. "The novel BTB-kelch protein, KBTBD8, is located in the Golgi apparatus and translocates to the spindle apparatus during mitosis."
      Luhrig S., Kolb S., Mellies N., Nolte J.
      Cell Div. 8:3-3(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    8. Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-198 AND LYS-405.

    Entry informationi

    Entry nameiKBTB8_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFY9
    Secondary accession number(s): B4DTW6, Q96JI5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 85 of the entry and version 2 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 3
      Human chromosome 3: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3