KLH30_HUMAN
ID KLH30_HUMAN Reviewed; 578 AA.
AC Q0D2K2; Q6ZUS1;
DT 06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Kelch-like protein 30;
GN Name=KLHL30;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-121.
RA Ebert L., Heil O., Hennig S., Neubert P., Partsch E., Peters M.,
RA Radelof U., Schneider D., Korn B.;
RL Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-578.
RC TISSUE=Tongue;
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 MRNA] OF 9-394.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86148.1; Type=Erroneous termination; Note=Truncated C-terminus.; 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; AC016757; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX280405; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK125364; BAC86148.1; ALT_SEQ; mRNA.
DR EMBL; BC105696; AAI05697.1; -; mRNA.
DR CCDS; CCDS46555.2; -.
DR RefSeq; NP_940984.3; NM_198582.3.
DR AlphaFoldDB; Q0D2K2; -.
DR SMR; Q0D2K2; -.
DR BioGRID; 132015; 1.
DR STRING; 9606.ENSP00000386389; -.
DR iPTMnet; Q0D2K2; -.
DR PhosphoSitePlus; Q0D2K2; -.
DR BioMuta; KLHL30; -.
DR DMDM; 327478576; -.
DR MassIVE; Q0D2K2; -.
DR PaxDb; Q0D2K2; -.
DR PeptideAtlas; Q0D2K2; -.
DR PRIDE; Q0D2K2; -.
DR ProteomicsDB; 58745; -.
DR Antibodypedia; 50046; 80 antibodies from 14 providers.
DR DNASU; 377007; -.
DR Ensembl; ENST00000409223.2; ENSP00000386389.1; ENSG00000168427.9.
DR GeneID; 377007; -.
DR KEGG; hsa:377007; -.
DR MANE-Select; ENST00000409223.2; ENSP00000386389.1; NM_198582.4; NP_940984.3.
DR UCSC; uc002vxr.3; human.
DR CTD; 377007; -.
DR DisGeNET; 377007; -.
DR GeneCards; KLHL30; -.
DR HGNC; HGNC:24770; KLHL30.
DR HPA; ENSG00000168427; Tissue enriched (skeletal).
DR neXtProt; NX_Q0D2K2; -.
DR OpenTargets; ENSG00000168427; -.
DR PharmGKB; PA162393522; -.
DR VEuPathDB; HostDB:ENSG00000168427; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158597; -.
DR HOGENOM; CLU_004253_14_6_1; -.
DR InParanoid; Q0D2K2; -.
DR OMA; KAWAFLL; -.
DR OrthoDB; 743142at2759; -.
DR PhylomeDB; Q0D2K2; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q0D2K2; -.
DR BioGRID-ORCS; 377007; 6 hits in 1103 CRISPR screens.
DR GenomeRNAi; 377007; -.
DR Pharos; Q0D2K2; Tdark.
DR PRO; PR:Q0D2K2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q0D2K2; protein.
DR Bgee; ENSG00000168427; Expressed in gastrocnemius and 91 other tissues.
DR Gene3D; 2.120.10.80; -; 1.
DR Gene3D; 3.30.710.10; -; 1.
DR InterPro; IPR011705; BACK.
DR InterPro; IPR017096; BTB-kelch_protein.
DR InterPro; IPR000210; BTB/POZ_dom.
DR InterPro; IPR015915; Kelch-typ_b-propeller.
DR InterPro; IPR006652; Kelch_1.
DR InterPro; IPR030582; KLHL30.
DR InterPro; IPR011333; SKP1/BTB/POZ_sf.
DR PANTHER; PTHR24412:SF398; PTHR24412:SF398; 1.
DR Pfam; PF07707; BACK; 1.
DR Pfam; PF00651; BTB; 1.
DR Pfam; PF01344; Kelch_1; 1.
DR PIRSF; PIRSF037037; Kelch-like_protein_gigaxonin; 1.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 4.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 2: Evidence at transcript level;
KW Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..578
FT /note="Kelch-like protein 30"
FT /id="PRO_0000274594"
FT DOMAIN 33..100
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT DOMAIN 153..255
FT /note="BACK"
FT REPEAT 270..326
FT /note="Kelch 1"
FT REPEAT 327..377
FT /note="Kelch 2"
FT REPEAT 378..422
FT /note="Kelch 3"
FT REPEAT 424..471
FT /note="Kelch 4"
FT REPEAT 473..513
FT /note="Kelch 5"
FT REPEAT 514..563
FT /note="Kelch 6"
FT CONFLICT 49
FT /note="G -> S (in Ref. 4; AAI05697)"
FT /evidence="ECO:0000305"
FT CONFLICT 178
FT /note="R -> Q (in Ref. 4; AAI05697)"
FT /evidence="ECO:0000305"
FT CONFLICT 195
FT /note="S -> G (in Ref. 3; BAC86148)"
FT /evidence="ECO:0000305"
FT CONFLICT 213
FT /note="A -> V (in Ref. 3; BAC86148 and 4; AAI05697)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 578 AA; 63976 MW; E6C55A0D9DC2E07A CRC64;
MVRNVDDLDF HLPSHAQDML DGLQRLRSQP KLADVTLLVG GRELPCHRGL LALSSPYFHA
MFAGDFAESF SARVELRDVE PAVVGQLVDF VYTGRLTITQ GNVEALTRTA ARLHFPSVQK
VCGRYLQQQL DAANCLGICE FGEQQGLLGV AAKAWAFLRE NFEAVAREDE FLQLPRERLV
TCLAGDLLQV QPEQSRLEAL MRWVRHDPQA RAAHLPELLS LVHLDAVPRP CVQQLLASEP
LIQESEACRA ALSQGHDGAP LALQQKLEEV LVVVGGQALE EEEAGEEPTP GLGNFAFYNS
KAKRWMALPD FPDYHKWGFS LAALNNNIYV TGGSRGTKTD TWSTTQAWCF PLKEASWKPV
APMLKPRTNH ASAALNGEIY VIGGTTLDVV EVESYDPYTD SWTPVSPALK YVSNFSAAGC
RGRLYLVGSS ACKYNALALQ CYNPVTDAWS VIASPFLPKY LSSPRCAALH GELYLIGDNT
KKVYVYDPGA NLWQKVQSQH SLHENGALVP LGDALYVTGG RWQGMEGDYH VEMEAYDTVR
DTWTRHGALP RLWLYHGAST VFLDVSKWTQ PSGPTQEH
