KLHL5_HUMAN
ID KLHL5_HUMAN Reviewed; 755 AA.
AC Q96PQ7; A8K170; B7WP68; E9PCF4; F8WAE7; G3XA92; Q6Y881; Q86XW0; Q9NUK3;
AC Q9NV27; Q9NVA9; Q9Y2X2;
DT 27-MAR-2002, integrated into UniProtKB/Swiss-Prot.
DT 24-OCT-2003, sequence version 3.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Kelch-like protein 5;
GN Name=KLHL5;
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 (ISOFORMS 1 AND 2), AND VARIANT LEU-10.
RC TISSUE=Fetal brain;
RX PubMed=11590829; DOI=10.1023/a:1010203114697;
RA Wang S., Zhou Z., Ying K., Tang R., Huang Y., Wu C., Xie Y., Mao Y.;
RT "Cloning and characterization of KLHL5, a novel human gene encoding a
RT kelch-related protein with a BTB domain.";
RL Biochem. Genet. 39:227-238(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT LEU-10, AND ALTERNATIVE
RP SPLICING.
RC TISSUE=Fetal brain;
RX PubMed=14672410; DOI=10.1023/a:1026372901766;
RA Xu J., Gu S., Wang S., Dai J., Ji C., Jin Y., Qian J., Wang L., Ye X.,
RA Xie Y., Mao Y.;
RT "Characterization of a novel splicing variant of KLHL5, a member of the
RT kelch protein family.";
RL Mol. Biol. Rep. 30:239-242(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 476-755 (ISOFORM 2), AND VARIANT LEU-10.
RC TISSUE=Brain, and Placenta;
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=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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-10.
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.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 383-755 (ISOFORM 1).
RC TISSUE=Uterus;
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).
RN [7]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 490-755 (ISOFORM 3).
RC TISSUE=Tonsil;
RA Jiyi Y., Lianxian C., Zhengjian Z., Bo Y.;
RL Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases.
CC -!- INTERACTION:
CC Q96PQ7; Q13618: CUL3; NbExp=4; IntAct=EBI-2692595, EBI-456129;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1; Synonyms=KLHL5a;
CC IsoId=Q96PQ7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96PQ7-2; Sequence=VSP_008619;
CC Name=3;
CC IsoId=Q96PQ7-3; Sequence=VSP_008620;
CC Name=4; Synonyms=KLHL5b;
CC IsoId=Q96PQ7-4; Sequence=VSP_045227;
CC Name=5;
CC IsoId=Q96PQ7-5; Sequence=VSP_047111;
CC Name=6;
CC IsoId=Q96PQ7-6; Sequence=VSP_047112;
CC -!- TISSUE SPECIFICITY: Expressed in adrenal gland, ovary and thyroid gland
CC and less abundantly in lymph node, prostate, spinal chord, testis and
CC trachea.
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to intron retention.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 4]: Ubiquitous expression, differentially
CC expressed in kidney and pancreas relatively to isoform 1.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD32565.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAL08584.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91845.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAA91933.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAA92121.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF272976; AAL08584.1; ALT_SEQ; mRNA.
DR EMBL; AY172948; AAO39710.1; -; mRNA.
DR EMBL; AK001698; BAA91845.1; ALT_INIT; mRNA.
DR EMBL; AK001836; BAA91933.1; ALT_INIT; mRNA.
DR EMBL; AK002174; BAA92121.1; ALT_INIT; mRNA.
DR EMBL; AK289785; BAF82474.1; -; mRNA.
DR EMBL; AC079921; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471069; EAW92908.1; -; Genomic_DNA.
DR EMBL; CH471069; EAW92911.1; -; Genomic_DNA.
DR EMBL; BC048262; AAH48262.1; -; mRNA.
DR EMBL; AF123320; AAD32565.1; ALT_INIT; mRNA.
DR CCDS; CCDS33974.1; -. [Q96PQ7-6]
DR CCDS; CCDS33975.1; -. [Q96PQ7-6]
DR CCDS; CCDS54756.1; -. [Q96PQ7-5]
DR RefSeq; NP_001007076.1; NM_001007075.2. [Q96PQ7-6]
DR RefSeq; NP_057074.3; NM_015990.4. [Q96PQ7-6]
DR RefSeq; NP_950240.2; NM_199039.3.
DR AlphaFoldDB; Q96PQ7; -.
DR SMR; Q96PQ7; -.
DR BioGRID; 119278; 11.
DR IntAct; Q96PQ7; 12.
DR MINT; Q96PQ7; -.
DR STRING; 9606.ENSP00000423897; -.
DR iPTMnet; Q96PQ7; -.
DR PhosphoSitePlus; Q96PQ7; -.
DR BioMuta; KLHL5; -.
DR DMDM; 37999955; -.
DR EPD; Q96PQ7; -.
DR jPOST; Q96PQ7; -.
DR MassIVE; Q96PQ7; -.
DR MaxQB; Q96PQ7; -.
DR PaxDb; Q96PQ7; -.
DR PeptideAtlas; Q96PQ7; -.
DR PRIDE; Q96PQ7; -.
DR ProteomicsDB; 19438; -.
DR ProteomicsDB; 30483; -.
DR ProteomicsDB; 33684; -.
DR ProteomicsDB; 77735; -. [Q96PQ7-1]
DR ProteomicsDB; 77736; -. [Q96PQ7-2]
DR ProteomicsDB; 77737; -. [Q96PQ7-3]
DR Antibodypedia; 2325; 66 antibodies from 18 providers.
DR DNASU; 51088; -.
DR Ensembl; ENST00000261425.7; ENSP00000261425.3; ENSG00000109790.18. [Q96PQ7-6]
DR Ensembl; ENST00000504108.7; ENSP00000423897.2; ENSG00000109790.18. [Q96PQ7-6]
DR Ensembl; ENST00000508137.6; ENSP00000423080.2; ENSG00000109790.18. [Q96PQ7-5]
DR GeneID; 51088; -.
DR KEGG; hsa:51088; -.
DR MANE-Select; ENST00000504108.7; ENSP00000423897.2; NM_015990.5; NP_057074.4. [Q96PQ7-6]
DR UCSC; uc003gtp.4; human. [Q96PQ7-1]
DR CTD; 51088; -.
DR DisGeNET; 51088; -.
DR GeneCards; KLHL5; -.
DR HGNC; HGNC:6356; KLHL5.
DR HPA; ENSG00000109790; Low tissue specificity.
DR MIM; 608064; gene.
DR neXtProt; NX_Q96PQ7; -.
DR OpenTargets; ENSG00000109790; -.
DR PharmGKB; PA30146; -.
DR VEuPathDB; HostDB:ENSG00000109790; -.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000155358; -.
DR HOGENOM; CLU_004253_12_0_1; -.
DR InParanoid; Q96PQ7; -.
DR OMA; TWNVMPP; -.
DR OrthoDB; 709680at2759; -.
DR PhylomeDB; Q96PQ7; -.
DR TreeFam; TF329218; -.
DR PathwayCommons; Q96PQ7; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR Reactome; R-HSA-983168; Antigen processing: Ubiquitination & Proteasome degradation.
DR SignaLink; Q96PQ7; -.
DR BioGRID-ORCS; 51088; 15 hits in 1119 CRISPR screens.
DR ChiTaRS; KLHL5; human.
DR GenomeRNAi; 51088; -.
DR Pharos; Q96PQ7; Tdark.
DR PRO; PR:Q96PQ7; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q96PQ7; protein.
DR Bgee; ENSG00000109790; Expressed in stromal cell of endometrium and 186 other tissues.
DR ExpressionAtlas; Q96PQ7; baseline and differential.
DR Genevisible; Q96PQ7; HS.
DR GO; GO:0005737; C:cytoplasm; NAS:UniProtKB.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0003779; F:actin binding; IEA:UniProtKB-KW.
DR CDD; cd18337; BTB_POZ_KLHL5; 1.
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; IPR030606; KLHL5_BTB/POZ.
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; Alternative splicing; Cytoplasm; Cytoskeleton; Kelch repeat;
KW Reference proteome; Repeat.
FT CHAIN 1..755
FT /note="Kelch-like protein 5"
FT /id="PRO_0000119105"
FT DOMAIN 220..287
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 468..514
FT /note="Kelch 1"
FT REPEAT 515..561
FT /note="Kelch 2"
FT REPEAT 563..608
FT /note="Kelch 3"
FT REPEAT 609..655
FT /note="Kelch 4"
FT REPEAT 657..708
FT /note="Kelch 5"
FT REPEAT 709..754
FT /note="Kelch 6"
FT REGION 152..184
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..187
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_047111"
FT VAR_SEQ 1..46
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_047112"
FT VAR_SEQ 174..234
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14672410"
FT /id="VSP_045227"
FT VAR_SEQ 739..755
FT /note="APLCLGRAGACVVTVKL -> WHSCFIITLTLFLLKQFLW (in isoform
FT 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_008619"
FT VAR_SEQ 739..755
FT /note="APLCLGRAGACVVTVKL -> FSHTFEDSKDHLVAIKQTIWRQNSLSEEFRS
FT H (in isoform 3)"
FT /evidence="ECO:0000303|Ref.7"
FT /id="VSP_008620"
FT VARIANT 10
FT /note="I -> L (in dbSNP:rs2711941)"
FT /evidence="ECO:0000269|PubMed:11590829,
FT ECO:0000269|PubMed:14672410, ECO:0000269|PubMed:14702039,
FT ECO:0000269|Ref.5"
FT /id="VAR_050048"
FT VARIANT 508
FT /note="G -> S (in dbSNP:rs34646863)"
FT /id="VAR_033985"
FT CONFLICT 129
FT /note="P -> S (in Ref. 2; AAO39710)"
FT /evidence="ECO:0000305"
FT CONFLICT 323
FT /note="L -> P (in Ref. 3; BAA91845)"
FT /evidence="ECO:0000305"
FT CONFLICT 351
FT /note="E -> G (in Ref. 2; AAO39710)"
FT /evidence="ECO:0000305"
FT CONFLICT 435
FT /note="Q -> R (in Ref. 1; AAL08584)"
FT /evidence="ECO:0000305"
FT CONFLICT 459
FT /note="T -> I (in Ref. 2; AAO39710)"
FT /evidence="ECO:0000305"
FT CONFLICT 594
FT /note="M -> K (in Ref. 3; BAA91845)"
FT /evidence="ECO:0000305"
FT CONFLICT 654
FT /note="N -> S (in Ref. 2; AAO39710)"
FT /evidence="ECO:0000305"
FT CONFLICT 695
FT /note="S -> G (in Ref. 3; BAA92121)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 755 AA; 84457 MW; 2AB1BFB98F387F6C CRC64;
MNVIYFPLHI FVVYSRAYTS LVLVGCTNLC AVLFARCLDD HLVSLRMSGS RKEFDVKQIL
KIRWRWFGHQ ASSPNSTVDS QQGEFWNRGQ TGANGGRKFL DPCSLQLPLA SIGYRRSSQL
DFQNSPSWPM ASTSEVPAFE FTAEDCGGAH WLDRPEVDDG TSEEENESDS SSCRTSNSSQ
TLSSCHTMEP CTSDEFFQAL NHAEQTFKKM ENYLRHKQLC DVILVAGDRR IPAHRLVLSS
VSDYFAAMFT NDVREARQEE IKMEGVEPNS LWSLIQYAYT GRLELKEDNI ECLLSTACLL
QLSQVVEACC KFLMKQLHPS NCLGIRSFAD AQGCTDLHKV AHNYTMEHFM EVIRNQEFVL
LPASEIAKLL ASDDMNIPNE ETILNALLTW VRHDLEQRRK DLSKLLAYIR LPLLAPQFLA
DMENNVLFRD DIECQKLIME AMKYHLLPER RPMLQSPRTK PRKSTVGTLF AVGGMDSTKG
ATSIEKYDLR TNMWTPVANM NGRRLQFGVA VLDDKLYVVG GRDGLKTLNT VECYNPKTKT
WSVMPPMSTH RHGLGVAVLE GPMYAVGGHD GWSYLNTVER WDPQARQWNF VATMSTPRST
VGVAVLSGKL YAVGGRDGSS CLKSVECFDP HTNKWTLCAQ MSKRRGGVGV TTWNGLLYAI
GGHDAPASNL TSRLSDCVER YDPKTDMWTA VASMSISRDA VGVCLLGDKL YAVGGYDGQA
YLNTVEAYDP QTNEWTQVAP LCLGRAGACV VTVKL
