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Q9P2G9

- KLHL8_HUMAN

UniProt

Q9P2G9 - KLHL8_HUMAN

Protein

Kelch-like protein 8

Gene

KLHL8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for The BCR(KLHL8) ubiquitin ligase complex mediates ubiquitination and degradation of RAPSN.1 Publication

    Pathwayi

    GO - Biological processi

    1. protein ubiquitination Source: UniProtKB
    2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: UniProtKB

    Keywords - Biological processi

    Ubl conjugation pathway

    Enzyme and pathway databases

    UniPathwayiUPA00143.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch-like protein 8
    Gene namesi
    Name:KLHL8
    Synonyms:KIAA1378
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:18644. KLHL8.

    Subcellular locationi

    GO - Cellular componenti

    1. Cul3-RING ubiquitin ligase complex Source: UniProtKB
    2. nucleus Source: HPA

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38616.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 620619Kelch-like protein 8PRO_0000119108Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9P2G9.
    PaxDbiQ9P2G9.
    PRIDEiQ9P2G9.

    PTM databases

    PhosphoSiteiQ9P2G9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9P2G9.
    BgeeiQ9P2G9.
    CleanExiHS_KLHL8.
    GenevestigatoriQ9P2G9.

    Organism-specific databases

    HPAiHPA013856.
    HPA017762.

    Interactioni

    Subunit structurei

    Component of the BCR(KLHL8) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL8 and RBX1. Interacts with RAPSN.1 Publication

    Protein-protein interaction databases

    BioGridi121618. 10 interactions.
    IntActiQ9P2G9. 4 interactions.
    STRINGi9606.ENSP00000273963.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P2G9.
    SMRiQ9P2G9. Positions 44-293, 317-598.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini67 – 13468BTBPROSITE-ProRule annotationAdd
    BLAST
    Domaini169 – 270102BACKAdd
    BLAST
    Repeati319 – 36648Kelch 1Add
    BLAST
    Repeati367 – 41347Kelch 2Add
    BLAST
    Repeati415 – 46046Kelch 3Add
    BLAST
    Repeati462 – 50746Kelch 4Add
    BLAST
    Repeati508 – 55447Kelch 5Add
    BLAST
    Repeati556 – 60146Kelch 6Add
    BLAST

    Sequence similaritiesi

    Contains 1 BTB (POZ) domain.PROSITE-ProRule annotation
    Contains 6 Kelch repeats.Curated

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG299517.
    HOGENOMiHOG000230814.
    HOVERGENiHBG014286.
    InParanoidiQ9P2G9.
    KOiK10446.
    OMAiRKQTAGV.
    OrthoDBiEOG7PK8Z1.
    PhylomeDBiQ9P2G9.
    TreeFamiTF329218.

    Family and domain databases

    Gene3Di2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProiIPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR011043. Gal_Oxase/kelch_b-propeller.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view]
    PIRSFiPIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view]
    SUPFAMiSSF50965. SSF50965. 1 hit.
    SSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P2G9-1) [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

    MASDSMSSKQ ARNHITKGKR QQQHQQIKNR SSISDGDGED SFIFEANEAW    50
    KDFHGSLLRF YENGELCDVT LKVGSKLISC HKLVLACVIP YFRAMFLSEM 100
    AEAKQTLIEI RDFDGDAIED LVKFVYSSRL TLTVDNVQPL LYAACILQVE 150
    LVARACCEYM KLHFHPSNCL AVRAFAESHN RIDLMDMADQ YACDHFTEVV 200
    ECEDFVSVSP QHLHKLLSSS DLNIENEKQV YNAAIKWLLA NPQHHSKWLD 250
    ETLAQVRLPL LPVDFLMGVV AKEQIVKQNL KCRDLLDEAR NYHLHLSSRA 300
    VPDFEYSIRT TPRKHTAGVL FCVGGRGGSG DPFRSIECYS INKNSWFFGP 350
    EMNSRRRHVG VISVEGKVYA VGGHDGNEHL GSMEMFDPLT NKWMMKASMN 400
    TKRRGIALAS LGGPIYAIGG LDDNTCFNDV ERYDIESDQW STVAPMNTPR 450
    GGVGSVALVN HVYAVGGNDG MASLSSVERY DPHLDKWIEV KEMGQRRAGN 500
    GVSKLHGCLY VVGGFDDNSP LSSVERYDPR SNKWDYVAAL TTPRGGVGIA 550
    TVMGKIFAVG GHNGNAYLNT VEAFDPVLNR WELVGSVSHC RAGAGVAVCS 600
    CLTSQIRDVG HGSNNVVDCM 620
    Length:620
    Mass (Da):68,802
    Last modified:January 23, 2007 - v4
    Checksum:i6C3C3C78CEC6FE84
    GO
    Isoform 2 (identifier: Q9P2G9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         73-148: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:544
    Mass (Da):60,281
    Checksum:iFED52CF501F2DDB5
    GO

    Sequence cautioni

    The sequence BAA92616.2 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti520 – 5201P → R.1 Publication
    Corresponds to variant rs17854114 [ dbSNP | Ensembl ].
    VAR_030012

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei73 – 14876Missing in isoform 2. 1 PublicationVSP_054443Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037799 mRNA. Translation: BAA92616.2. Different initiation.
    BX640727 mRNA. Translation: CAE45843.1.
    BX640744 mRNA. Translation: CAE45855.1.
    AC092658 Genomic DNA. No translation available.
    AC108516 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX05982.1.
    BC041384 mRNA. Translation: AAH41384.1.
    CCDSiCCDS3617.1. [Q9P2G9-1]
    RefSeqiNP_065854.3. NM_020803.4. [Q9P2G9-1]
    UniGeneiHs.106601.

    Genome annotation databases

    EnsembliENST00000273963; ENSP00000273963; ENSG00000145332. [Q9P2G9-1]
    ENST00000498875; ENSP00000426451; ENSG00000145332. [Q9P2G9-2]
    ENST00000512111; ENSP00000424131; ENSG00000145332. [Q9P2G9-1]
    GeneIDi57563.
    KEGGihsa:57563.
    UCSCiuc003hql.1. human. [Q9P2G9-1]

    Polymorphism databases

    DMDMi124056473.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB037799 mRNA. Translation: BAA92616.2 . Different initiation.
    BX640727 mRNA. Translation: CAE45843.1 .
    BX640744 mRNA. Translation: CAE45855.1 .
    AC092658 Genomic DNA. No translation available.
    AC108516 Genomic DNA. No translation available.
    CH471057 Genomic DNA. Translation: EAX05982.1 .
    BC041384 mRNA. Translation: AAH41384.1 .
    CCDSi CCDS3617.1. [Q9P2G9-1 ]
    RefSeqi NP_065854.3. NM_020803.4. [Q9P2G9-1 ]
    UniGenei Hs.106601.

    3D structure databases

    ProteinModelPortali Q9P2G9.
    SMRi Q9P2G9. Positions 44-293, 317-598.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121618. 10 interactions.
    IntActi Q9P2G9. 4 interactions.
    STRINGi 9606.ENSP00000273963.

    PTM databases

    PhosphoSitei Q9P2G9.

    Polymorphism databases

    DMDMi 124056473.

    Proteomic databases

    MaxQBi Q9P2G9.
    PaxDbi Q9P2G9.
    PRIDEi Q9P2G9.

    Protocols and materials databases

    DNASUi 57563.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000273963 ; ENSP00000273963 ; ENSG00000145332 . [Q9P2G9-1 ]
    ENST00000498875 ; ENSP00000426451 ; ENSG00000145332 . [Q9P2G9-2 ]
    ENST00000512111 ; ENSP00000424131 ; ENSG00000145332 . [Q9P2G9-1 ]
    GeneIDi 57563.
    KEGGi hsa:57563.
    UCSCi uc003hql.1. human. [Q9P2G9-1 ]

    Organism-specific databases

    CTDi 57563.
    GeneCardsi GC04M088081.
    HGNCi HGNC:18644. KLHL8.
    HPAi HPA013856.
    HPA017762.
    MIMi 611967. gene.
    neXtProti NX_Q9P2G9.
    PharmGKBi PA38616.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG299517.
    HOGENOMi HOG000230814.
    HOVERGENi HBG014286.
    InParanoidi Q9P2G9.
    KOi K10446.
    OMAi RKQTAGV.
    OrthoDBi EOG7PK8Z1.
    PhylomeDBi Q9P2G9.
    TreeFami TF329218.

    Enzyme and pathway databases

    UniPathwayi UPA00143 .

    Miscellaneous databases

    GeneWikii KLHL8.
    GenomeRNAii 57563.
    NextBioi 64070.
    PROi Q9P2G9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9P2G9.
    Bgeei Q9P2G9.
    CleanExi HS_KLHL8.
    Genevestigatori Q9P2G9.

    Family and domain databases

    Gene3Di 2.130.10.80. 1 hit.
    3.30.710.10. 1 hit.
    InterProi IPR011705. BACK.
    IPR000210. BTB/POZ-like.
    IPR011333. BTB/POZ_fold.
    IPR013069. BTB_POZ.
    IPR011043. Gal_Oxase/kelch_b-propeller.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR017096. Kelch-like_gigaxonin-typ.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view ]
    PIRSFi PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit.
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view ]
    SUPFAMi SSF50965. SSF50965. 1 hit.
    SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "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.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Cerebellum and Fetal kidney.
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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), VARIANT ARG-520.
      Tissue: Brain.
    7. "Control of rapsyn stability by the CUL-3-containing E3 ligase complex."
      Nam S., Min K., Hwang H., Lee H.O., Lee J.H., Yoon J., Lee H., Park S., Lee J.
      J. Biol. Chem. 284:8195-8206(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, IDENTIFICATION IN A BCR (BTB-CUL3-RBX1) E3 UBIQUITIN LIGASE COMPLEX, INTERACTION WITH RAPSN.
    8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiKLHL8_HUMAN
    AccessioniPrimary (citable) accession number: Q9P2G9
    Secondary accession number(s): Q53XA3, Q6N018
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 12, 2003
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 109 of the entry and version 4 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. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3