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 24-JUL-2024, entry version 174. 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; Q13618: CUL3; NbExp=3; IntAct=EBI-6426228, EBI-456129; 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}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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; 20. DR ComplexPortal; CPX-8007; CRL3 E3 ubiquitin ligase complex, KLHL1 variant. DR IntAct; Q9NR64; 14. DR STRING; 9606.ENSP00000367075; -. DR GlyGen; Q9NR64; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q9NR64; -. DR PhosphoSitePlus; Q9NR64; -. DR BioMuta; KLHL1; -. DR DMDM; 13431647; -. DR MassIVE; Q9NR64; -. DR PaxDb; 9606-ENSP00000367075; -. DR PeptideAtlas; Q9NR64; -. DR Pumba; Q9NR64; -. DR Antibodypedia; 9985; 285 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 AGR; HGNC:6352; -. 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; 5472491at2759; -. DR PhylomeDB; Q9NR64; -. DR TreeFam; TF329218; -. DR PathwayCommons; Q9NR64; -. DR SignaLink; Q9NR64; -. DR BioGRID-ORCS; 57626; 12 hits in 1182 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 36 other cell types or tissues. DR ExpressionAtlas; Q9NR64; baseline and differential. 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 CDD; cd18509; BACK_KLHL1; 1. DR CDD; cd18335; BTB_POZ_KLHL1; 1. DR Gene3D; 1.25.40.420; -; 1. DR Gene3D; 2.120.10.80; Kelch-type beta propeller; 2. 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 PANTHER; PTHR24412:SF35; ACTIN-BINDING PROTEIN IPP; 1. DR PANTHER; PTHR24412; KELCH PROTEIN; 1. 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; Kelch motif; 2. DR SUPFAM; SSF54695; POZ domain; 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 //