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Q9NR64

- KLHL1_HUMAN

UniProt

Q9NR64 - KLHL1_HUMAN

Protein

Kelch-like protein 1

Gene

KLHL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May play a role in organizing the actin cytoskeleton of the brain cells.

    GO - Molecular functioni

    1. actin binding Source: UniProtKB

    GO - Biological processi

    1. actin cytoskeleton organization Source: UniProtKB
    2. adult walking behavior Source: Ensembl
    3. cerebellar Purkinje cell layer development Source: Ensembl
    4. dendrite development Source: Ensembl

    Keywords - Ligandi

    Actin-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kelch-like protein 1
    Gene namesi
    Name:KLHL1
    Synonyms:KIAA1490
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:6352. KLHL1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB
    2. cytoskeleton Source: UniProtKB-SubCell
    3. dendrite Source: Ensembl
    4. neuronal cell body Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30142.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 748748Kelch-like protein 1PRO_0000119099Add
    BLAST

    Proteomic databases

    PaxDbiQ9NR64.
    PRIDEiQ9NR64.

    PTM databases

    PhosphoSiteiQ9NR64.

    Expressioni

    Tissue specificityi

    Highly expressed in brain.

    Gene expression databases

    ArrayExpressiQ9NR64.
    BgeeiQ9NR64.
    CleanExiHS_KLHL1.
    GenevestigatoriQ9NR64.

    Organism-specific databases

    HPAiHPA021196.

    Interactioni

    Protein-protein interaction databases

    BioGridi121671. 7 interactions.
    IntActiQ9NR64. 9 interactions.
    STRINGi9606.ENSP00000367075.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NR64.
    SMRiQ9NR64. Positions 194-385, 408-747.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini212 – 27968BTBPROSITE-ProRule annotationAdd
    BLAST
    Repeati460 – 50647Kelch 1Add
    BLAST
    Repeati507 – 55347Kelch 2Add
    BLAST
    Repeati555 – 60046Kelch 3Add
    BLAST
    Repeati601 – 64747Kelch 4Add
    BLAST
    Repeati649 – 70052Kelch 5Add
    BLAST
    Repeati701 – 74747Kelch 6Add
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi43 – 8846Ser-richAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Kelch repeat, Repeat

    Phylogenomic databases

    eggNOGiNOG280486.
    HOGENOMiHOG000230814.
    HOVERGENiHBG014286.
    InParanoidiQ9NR64.
    KOiK10442.
    OMAiDTQRRCN.
    OrthoDBiEOG7ZWD17.
    PhylomeDBiQ9NR64.
    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.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view]
    PfamiPF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view]
    SMARTiSM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view]
    SUPFAMiSSF54695. SSF54695. 1 hit.
    PROSITEiPS50097. BTB. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NR64-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSGSGRKDFD VKHILRLRWK LFSHPSPSTG GPAGGGCLQQ DGSGSFEHWG    50
    PSQSRLLKSQ ERSGVSTFWK KPSSSSSSSS SPSSSSSSFN PLNGTLLPVA 100
    TRLQQGAPGQ GTQQPARTLF YVESLEEEVV PGMDFPGPHE KGLVLQELKV 150
    EPDNSSQATG EGCGHRLSST GHSMTPQSDL DSSSSEEFYQ AVHHAEQTFR 200
    KMESYLKQQQ LCDVILIVGN RKIPAHRLVL SSVSDYFAAM FTSDVCEAKQ 250
    EEIKMEGIDP NALWDLVQFA YTGCLELKED TIENLLAAAC LLQLPQVVEV 300
    CCHFLMKLLH PSNCLGIRAF ADAQGCIELM KVAHSYTMEN IMEVIRNQEF 350
    LLLPAEELHK LLASDDVNVP DEETIFHALM MWVKYDMQSR CNDLSMLLAF 400
    IRLPLLPPQI LADLENHALF KNDLECQKLI LEAMKYHLLP ERRTLMQSPR 450
    TKPRKSTVGT LYAVGGMDNN KGATTIEKYD LRTNLWIQAG MMNGRRLQFG 500
    VAVIDDKLFV IGGRDGLKTL NTVECYNPKT KTWTVLPPMS THRHGLGVTV 550
    LEGPIYAVGG HDGWSYLNTV ERWDPQSQQW TFVASMSIAR STVGVAALNG 600
    KLYSVGGRDG SSCLSSMEYY DPHTNKWNMC APMCKRRGGV GVATCDGFLY 650
    AVGGHDAPAS NHCSRLLDYV ERYDPKTDTW TMVAPLSMPR DAVGVCLLGD 700
    RLYAVGGYDG QTYLNTMESY DPQTNEWTQM ASLNIGRAGA CVVVIKQP 748
    Length:748
    Mass (Da):82,680
    Last modified:October 1, 2000 - v1
    Checksum:iC11C43D8282F9FF9
    GO

    Sequence cautioni

    The sequence BAA96014.1 differs from that shown. Reason: Erroneous initiation.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF252283 mRNA. Translation: AAF81719.1.
    AF252279 Genomic DNA. Translation: AAF81716.1.
    AB040923 mRNA. Translation: BAA96014.1. Different initiation.
    AK291435 mRNA. Translation: BAF84124.1.
    AL160391
    , AL162378, AL353738, AL356384 Genomic DNA. Translation: CAH70258.2.
    AL162378
    , AL160391, AL353738, AL356384 Genomic DNA. Translation: CAH73330.2.
    AL353738
    , AL160391, AL162378, AL356384 Genomic DNA. Translation: CAH71287.2.
    AL356384
    , AL160391, AL162378, AL353738 Genomic DNA. Translation: CAH73834.2.
    CH471093 Genomic DNA. Translation: EAW80503.1.
    CCDSiCCDS9445.1.
    RefSeqiNP_001273654.1. NM_001286725.1.
    NP_065917.1. NM_020866.2.
    UniGeneiHs.508201.

    Genome annotation databases

    EnsembliENST00000377844; ENSP00000367075; ENSG00000150361.
    GeneIDi57626.
    KEGGihsa:57626.
    UCSCiuc001vip.3. human.

    Polymorphism databases

    DMDMi13431647.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF252283 mRNA. Translation: AAF81719.1 .
    AF252279 Genomic DNA. Translation: AAF81716.1 .
    AB040923 mRNA. Translation: BAA96014.1 . Different initiation.
    AK291435 mRNA. Translation: BAF84124.1 .
    AL160391
    , AL162378 , AL353738 , AL356384 Genomic DNA. Translation: CAH70258.2 .
    AL162378
    , AL160391 , AL353738 , AL356384 Genomic DNA. Translation: CAH73330.2 .
    AL353738
    , AL160391 , AL162378 , AL356384 Genomic DNA. Translation: CAH71287.2 .
    AL356384
    , AL160391 , AL162378 , AL353738 Genomic DNA. Translation: CAH73834.2 .
    CH471093 Genomic DNA. Translation: EAW80503.1 .
    CCDSi CCDS9445.1.
    RefSeqi NP_001273654.1. NM_001286725.1.
    NP_065917.1. NM_020866.2.
    UniGenei Hs.508201.

    3D structure databases

    ProteinModelPortali Q9NR64.
    SMRi Q9NR64. Positions 194-385, 408-747.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121671. 7 interactions.
    IntActi Q9NR64. 9 interactions.
    STRINGi 9606.ENSP00000367075.

    PTM databases

    PhosphoSitei Q9NR64.

    Polymorphism databases

    DMDMi 13431647.

    Proteomic databases

    PaxDbi Q9NR64.
    PRIDEi Q9NR64.

    Protocols and materials databases

    DNASUi 57626.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000377844 ; ENSP00000367075 ; ENSG00000150361 .
    GeneIDi 57626.
    KEGGi hsa:57626.
    UCSCi uc001vip.3. human.

    Organism-specific databases

    CTDi 57626.
    GeneCardsi GC13M070274.
    HGNCi HGNC:6352. KLHL1.
    HPAi HPA021196.
    MIMi 605332. gene.
    neXtProti NX_Q9NR64.
    PharmGKBi PA30142.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG280486.
    HOGENOMi HOG000230814.
    HOVERGENi HBG014286.
    InParanoidi Q9NR64.
    KOi K10442.
    OMAi DTQRRCN.
    OrthoDBi EOG7ZWD17.
    PhylomeDBi Q9NR64.
    TreeFami TF329218.

    Miscellaneous databases

    ChiTaRSi KLHL1. human.
    GeneWikii KLHL1.
    GenomeRNAii 57626.
    NextBioi 64323.
    PROi Q9NR64.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NR64.
    Bgeei Q9NR64.
    CleanExi HS_KLHL1.
    Genevestigatori Q9NR64.

    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.
    IPR015916. Gal_Oxidase_b-propeller.
    IPR006652. Kelch_1.
    [Graphical view ]
    Pfami PF07707. BACK. 1 hit.
    PF00651. BTB. 1 hit.
    PF01344. Kelch_1. 6 hits.
    [Graphical view ]
    SMARTi SM00875. BACK. 1 hit.
    SM00225. BTB. 1 hit.
    SM00612. Kelch. 6 hits.
    [Graphical view ]
    SUPFAMi SSF54695. SSF54695. 1 hit.
    PROSITEi PS50097. BTB. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)."
      Koob M.D., Nemes J.P., Benzow K.A.
      Hum. Mol. Genet. 9:1543-1551(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. "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].
      Tissue: Brain.
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiKLHL1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NR64
    Secondary accession number(s): A8K5X0
    , Q5VZ64, Q9H4X4, Q9NR65, Q9P238
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 117 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 13
      Human chromosome 13: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3