ID   KLHL1_HUMAN             Reviewed;         748 AA.
AC   Q9NR64; A8K5X0; Q5VZ64; Q9H4X4; Q9NR65; Q9P238;
DT   27-APR-2001, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   03-AUG-2022, entry version 163.
DE   RecName: Full=Kelch-like protein 1;
GN   Name=KLHL1; Synonyms=KIAA1490;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=10888605; DOI=10.1093/hmg/9.10.1543;
RA   Koob M.D., Nemes J.P., Benzow K.A.;
RT   "The SCA8 transcript is an antisense RNA to a brain-specific transcript
RT   encoding a novel actin-binding protein (KLHL1).";
RL   Hum. Mol. Genet. 9:1543-1551(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA   Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XVII. The
RT   complete sequences of 100 new cDNA clones from brain which code for large
RT   proteins in vitro.";
RL   DNA Res. 7:143-150(2000).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA   Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA   Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA   Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA   Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA   Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA   Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA   Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA   Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA   Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA   Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA   Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA   Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA   Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
CC   -!- FUNCTION: May play a role in organizing the actin cytoskeleton of the
CC       brain cells.
CC   -!- INTERACTION:
CC       Q9NR64; P40337-2: VHL; NbExp=3; IntAct=EBI-6426228, EBI-12157263;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
CC   -!- TISSUE SPECIFICITY: Highly expressed in brain.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA96014.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AF252283; AAF81719.1; -; mRNA.
DR   EMBL; AF252279; AAF81716.1; -; Genomic_DNA.
DR   EMBL; AB040923; BAA96014.1; ALT_INIT; mRNA.
DR   EMBL; AK291435; BAF84124.1; -; mRNA.
DR   EMBL; AL160391; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL162378; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL353738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL356384; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471093; EAW80503.1; -; Genomic_DNA.
DR   CCDS; CCDS9445.1; -.
DR   RefSeq; NP_001273654.1; NM_001286725.1.
DR   RefSeq; NP_065917.1; NM_020866.2.
DR   AlphaFoldDB; Q9NR64; -.
DR   SMR; Q9NR64; -.
DR   BioGRID; 121671; 18.
DR   IntAct; Q9NR64; 11.
DR   MINT; Q9NR64; -.
DR   STRING; 9606.ENSP00000367075; -.
DR   iPTMnet; Q9NR64; -.
DR   PhosphoSitePlus; Q9NR64; -.
DR   BioMuta; KLHL1; -.
DR   DMDM; 13431647; -.
DR   MassIVE; Q9NR64; -.
DR   MaxQB; Q9NR64; -.
DR   PaxDb; Q9NR64; -.
DR   PeptideAtlas; Q9NR64; -.
DR   PRIDE; Q9NR64; -.
DR   Antibodypedia; 9985; 273 antibodies from 30 providers.
DR   DNASU; 57626; -.
DR   Ensembl; ENST00000377844.9; ENSP00000367075.4; ENSG00000150361.12.
DR   GeneID; 57626; -.
DR   KEGG; hsa:57626; -.
DR   MANE-Select; ENST00000377844.9; ENSP00000367075.4; NM_020866.3; NP_065917.1.
DR   UCSC; uc001vip.4; human.
DR   CTD; 57626; -.
DR   DisGeNET; 57626; -.
DR   GeneCards; KLHL1; -.
DR   HGNC; HGNC:6352; KLHL1.
DR   HPA; ENSG00000150361; Tissue enriched (brain).
DR   MIM; 605332; gene.
DR   neXtProt; NX_Q9NR64; -.
DR   OpenTargets; ENSG00000150361; -.
DR   PharmGKB; PA30142; -.
DR   VEuPathDB; HostDB:ENSG00000150361; -.
DR   eggNOG; KOG4441; Eukaryota.
DR   GeneTree; ENSGT00940000160425; -.
DR   InParanoid; Q9NR64; -.
DR   OMA; CGHRLTA; -.
DR   OrthoDB; 709680at2759; -.
DR   PhylomeDB; Q9NR64; -.
DR   TreeFam; TF329218; -.
DR   PathwayCommons; Q9NR64; -.
DR   SignaLink; Q9NR64; -.
DR   BioGRID-ORCS; 57626; 10 hits in 1104 CRISPR screens.
DR   ChiTaRS; KLHL1; human.
DR   GeneWiki; KLHL1; -.
DR   GenomeRNAi; 57626; -.
DR   Pharos; Q9NR64; Tbio.
DR   PRO; PR:Q9NR64; -.
DR   Proteomes; UP000005640; Chromosome 13.
DR   RNAct; Q9NR64; protein.
DR   Bgee; ENSG00000150361; Expressed in substantia nigra pars reticulata and 37 other tissues.
DR   ExpressionAtlas; Q9NR64; baseline and differential.
DR   Genevisible; Q9NR64; HS.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR   GO; GO:0030425; C:dendrite; IBA:GO_Central.
DR   GO; GO:0043025; C:neuronal cell body; IBA:GO_Central.
DR   GO; GO:0003779; F:actin binding; NAS:UniProtKB.
DR   GO; GO:0030036; P:actin cytoskeleton organization; NAS:UniProtKB.
DR   GO; GO:0007628; P:adult walking behavior; IEA:Ensembl.
DR   GO; GO:0021680; P:cerebellar Purkinje cell layer development; IEA:Ensembl.
DR   GO; GO:0016358; P:dendrite development; IBA:GO_Central.
DR   Gene3D; 2.120.10.80; -; 2.
DR   Gene3D; 3.30.710.10; -; 1.
DR   InterPro; IPR011705; BACK.
DR   InterPro; IPR000210; BTB/POZ_dom.
DR   InterPro; IPR015915; Kelch-typ_b-propeller.
DR   InterPro; IPR006652; Kelch_1.
DR   InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR   Pfam; PF07707; BACK; 1.
DR   Pfam; PF00651; BTB; 1.
DR   Pfam; PF01344; Kelch_1; 6.
DR   SMART; SM00875; BACK; 1.
DR   SMART; SM00225; BTB; 1.
DR   SMART; SM00612; Kelch; 6.
DR   SUPFAM; SSF117281; SSF117281; 2.
DR   SUPFAM; SSF54695; SSF54695; 1.
DR   PROSITE; PS50097; BTB; 1.
PE   1: Evidence at protein level;
KW   Actin-binding; Cytoplasm; Cytoskeleton; Kelch repeat; Reference proteome;
KW   Repeat.
FT   CHAIN           1..748
FT                   /note="Kelch-like protein 1"
FT                   /id="PRO_0000119099"
FT   DOMAIN          212..279
FT                   /note="BTB"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT   REPEAT          460..506
FT                   /note="Kelch 1"
FT   REPEAT          507..553
FT                   /note="Kelch 2"
FT   REPEAT          555..600
FT                   /note="Kelch 3"
FT   REPEAT          601..647
FT                   /note="Kelch 4"
FT   REPEAT          649..700
FT                   /note="Kelch 5"
FT   REPEAT          701..747
FT                   /note="Kelch 6"
FT   REGION          22..93
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          151..182
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        45..93
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   748 AA;  82680 MW;  C11C43D8282F9FF9 CRC64;
     MSGSGRKDFD VKHILRLRWK LFSHPSPSTG GPAGGGCLQQ DGSGSFEHWG PSQSRLLKSQ
     ERSGVSTFWK KPSSSSSSSS SPSSSSSSFN PLNGTLLPVA TRLQQGAPGQ GTQQPARTLF
     YVESLEEEVV PGMDFPGPHE KGLVLQELKV EPDNSSQATG EGCGHRLSST GHSMTPQSDL
     DSSSSEEFYQ AVHHAEQTFR KMESYLKQQQ LCDVILIVGN RKIPAHRLVL SSVSDYFAAM
     FTSDVCEAKQ EEIKMEGIDP NALWDLVQFA YTGCLELKED TIENLLAAAC LLQLPQVVEV
     CCHFLMKLLH PSNCLGIRAF ADAQGCIELM KVAHSYTMEN IMEVIRNQEF LLLPAEELHK
     LLASDDVNVP DEETIFHALM MWVKYDMQSR CNDLSMLLAF IRLPLLPPQI LADLENHALF
     KNDLECQKLI LEAMKYHLLP ERRTLMQSPR TKPRKSTVGT LYAVGGMDNN KGATTIEKYD
     LRTNLWIQAG MMNGRRLQFG VAVIDDKLFV IGGRDGLKTL NTVECYNPKT KTWTVLPPMS
     THRHGLGVTV LEGPIYAVGG HDGWSYLNTV ERWDPQSQQW TFVASMSIAR STVGVAALNG
     KLYSVGGRDG SSCLSSMEYY DPHTNKWNMC APMCKRRGGV GVATCDGFLY AVGGHDAPAS
     NHCSRLLDYV ERYDPKTDTW TMVAPLSMPR DAVGVCLLGD RLYAVGGYDG QTYLNTMESY
     DPQTNEWTQM ASLNIGRAGA CVVVIKQP