ID KLHL1_HUMAN Reviewed; 748 AA. AC Q9NR64; Q5VZ64; Q9H4X4; Q9NR65; Q9P238; DT 27-APR-2001, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-2000, sequence version 1. DT 12-DEC-2006, entry version 50. DE Kelch-like protein 1. GN Name=KLHL1; Synonyms=KIAA1490; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=20347694; 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 RT transcript 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 MEDLINE=20277482; 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. RT The complete sequences of 100 new cDNA clones from brain which code RT for large proteins in vitro."; RL DNA Res. 7:143-150(2000). RN [3] 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., RA Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., RA Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T., RA Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., RA Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., RA 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., RA Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., RA Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., RA Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., RA Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., RA Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., RA Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., RA Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., RA King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., RA Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., RA 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., RA Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., RA Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., RA Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., RA Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., RA Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R., RA Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.; RT "The DNA sequence and analysis of human chromosome 13."; RL Nature 428:522-528(2004). CC -!- FUNCTION: May play a role in organizing the actin cytoskeleton of CC the brain cells. CC -!- SUBCELLULAR LOCATION: Cytoplasm. CC -!- TISSUE SPECIFICITY: Highly expressed in brain. CC -!- SIMILARITY: Contains 1 BTB (POZ) domain. CC -!- SIMILARITY: Contains 6 Kelch repeats. 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; AL160391; CAH70258.2; -; Genomic_DNA. DR EMBL; AL162378; CAH70258.2; JOINED; Genomic_DNA. DR EMBL; AL353738; CAH70258.2; JOINED; Genomic_DNA. DR EMBL; AL356384; CAH70258.2; JOINED; Genomic_DNA. DR EMBL; AL162378; CAH73330.2; -; Genomic_DNA. DR EMBL; AL160391; CAH73330.2; JOINED; Genomic_DNA. DR EMBL; AL353738; CAH73330.2; JOINED; Genomic_DNA. DR EMBL; AL356384; CAH73330.2; JOINED; Genomic_DNA. DR EMBL; AL353738; CAH71287.2; -; Genomic_DNA. DR EMBL; AL160391; CAH71287.2; JOINED; Genomic_DNA. DR EMBL; AL162378; CAH71287.2; JOINED; Genomic_DNA. DR EMBL; AL356384; CAH71287.2; JOINED; Genomic_DNA. DR EMBL; AL356384; CAH73834.2; -; Genomic_DNA. DR EMBL; AL160391; CAH73834.2; JOINED; Genomic_DNA. DR EMBL; AL162378; CAH73834.2; JOINED; Genomic_DNA. DR EMBL; AL353738; CAH73834.2; JOINED; Genomic_DNA. DR UniGene; Hs.508201; -. DR GermOnline; ENSG00000150361; Homo sapiens. DR Ensembl; ENSG00000150361; Homo sapiens. DR KEGG; hsa:57626; -. DR H-InvDB; HIX0011359; -. DR HGNC; HGNC:6352; KLHL1. DR MIM; 605332; gene. DR ArrayExpress; Q9NR64; -. DR RZPD-ProtExp; IOH11076; -. DR RZPD-ProtExp; W0816; -. DR GO; GO:0005737; C:cytoplasm; NAS:UniProtKB. DR GO; GO:0003779; F:actin binding; NAS:UniProtKB. DR GO; GO:0030036; P:actin cytoskeleton organization and biogenesis; NAS:UniProtKB. DR InterPro; IPR011705; BACK. DR InterPro; IPR000210; BTB. DR InterPro; IPR013069; BTB_POZ. DR InterPro; IPR011043; Gal_oxid_central. DR InterPro; IPR006651; Kelch. DR InterPro; IPR006652; Kelch_rep. DR Pfam; PF07707; BACK; 1. DR Pfam; PF00651; BTB; 1. DR Pfam; PF01344; Kelch_1; 6. DR PRINTS; PR00501; KELCHREPEAT. DR SMART; SM00225; BTB; 1. DR SMART; SM00612; Kelch; 6. DR PROSITE; PS50097; BTB; 1. KW Actin-binding; Cytoskeleton; Kelch repeat; Repeat. FT CHAIN 1 748 Kelch-like protein 1. FT /FTId=PRO_0000119099. FT DOMAIN 212 279 BTB. FT REPEAT 460 506 Kelch 1. FT REPEAT 507 553 Kelch 2. FT REPEAT 555 600 Kelch 3. FT REPEAT 601 647 Kelch 4. FT REPEAT 649 700 Kelch 5. FT REPEAT 701 747 Kelch 6. FT COMPBIAS 43 88 Ser-rich. 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 //