KLH29_HUMAN
ID KLH29_HUMAN Reviewed; 875 AA.
AC Q96CT2; Q8N388; Q96BF0; Q96PW7;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 3.
DT 03-AUG-2022, entry version 156.
DE RecName: Full=Kelch-like protein 29;
DE AltName: Full=Kelch repeat and BTB domain-containing protein 9;
GN Name=KLHL29; Synonyms=KBTBD9, KIAA1921;
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 MRNA] OF 82-875 (ISOFORM 2).
RC TISSUE=Melanoma;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 162-875 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 181-875 (ISOFORM 1).
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 360-875 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
CC -!- INTERACTION:
CC Q96CT2; Q8IVD9: NUDCD3; NbExp=2; IntAct=EBI-6426370, EBI-744342;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96CT2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96CT2-2; Sequence=VSP_010403;
CC -!- CAUTION: Although the complete sequence is not known with certainty,
CC sequence shown here appears to be the most probable in accordance with
CC the mouse sequence ortholog. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH13982.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH15667.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB67814.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
CC Sequence=CAD39171.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL834515; CAD39171.2; ALT_INIT; mRNA.
DR EMBL; BC013982; AAH13982.1; ALT_INIT; mRNA.
DR EMBL; BC015667; AAH15667.1; ALT_INIT; mRNA.
DR EMBL; AB067508; BAB67814.1; ALT_SEQ; mRNA.
DR CCDS; CCDS54335.1; -. [Q96CT2-1]
DR RefSeq; NP_443152.1; NM_052920.1. [Q96CT2-1]
DR RefSeq; XP_006711992.1; XM_006711929.3. [Q96CT2-1]
DR RefSeq; XP_016858753.1; XM_017003264.1. [Q96CT2-1]
DR AlphaFoldDB; Q96CT2; -.
DR SMR; Q96CT2; -.
DR BioGRID; 125369; 25.
DR IntAct; Q96CT2; 10.
DR STRING; 9606.ENSP00000420659; -.
DR iPTMnet; Q96CT2; -.
DR PhosphoSitePlus; Q96CT2; -.
DR BioMuta; KLHL29; -.
DR DMDM; 47605917; -.
DR EPD; Q96CT2; -.
DR MassIVE; Q96CT2; -.
DR PaxDb; Q96CT2; -.
DR PeptideAtlas; Q96CT2; -.
DR PRIDE; Q96CT2; -.
DR ProteomicsDB; 76219; -. [Q96CT2-1]
DR ProteomicsDB; 76220; -. [Q96CT2-2]
DR TopDownProteomics; Q96CT2-2; -. [Q96CT2-2]
DR Antibodypedia; 27362; 89 antibodies from 24 providers.
DR DNASU; 114818; -.
DR Ensembl; ENST00000486442.6; ENSP00000420659.1; ENSG00000119771.15. [Q96CT2-1]
DR GeneID; 114818; -.
DR KEGG; hsa:114818; -.
DR MANE-Select; ENST00000486442.6; ENSP00000420659.1; NM_052920.2; NP_443152.1.
DR UCSC; uc010ykg.3; human. [Q96CT2-1]
DR CTD; 114818; -.
DR DisGeNET; 114818; -.
DR GeneCards; KLHL29; -.
DR HGNC; HGNC:29404; KLHL29.
DR HPA; ENSG00000119771; Low tissue specificity.
DR neXtProt; NX_Q96CT2; -.
DR OpenTargets; ENSG00000119771; -.
DR PharmGKB; PA162393486; -.
DR VEuPathDB; HostDB:ENSG00000119771; -.
DR eggNOG; KOG1721; Eukaryota.
DR eggNOG; KOG4441; Eukaryota.
DR GeneTree; ENSGT00940000158824; -.
DR HOGENOM; CLU_004253_4_0_1; -.
DR InParanoid; Q96CT2; -.
DR OMA; IPLMPGH; -.
DR OrthoDB; 156311at2759; -.
DR PhylomeDB; Q96CT2; -.
DR TreeFam; TF351654; -.
DR PathwayCommons; Q96CT2; -.
DR SignaLink; Q96CT2; -.
DR BioGRID-ORCS; 114818; 6 hits in 1110 CRISPR screens.
DR ChiTaRS; KLHL29; human.
DR GenomeRNAi; 114818; -.
DR Pharos; Q96CT2; Tbio.
DR PRO; PR:Q96CT2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q96CT2; protein.
DR Bgee; ENSG00000119771; Expressed in tibia and 169 other tissues.
DR ExpressionAtlas; Q96CT2; baseline and differential.
DR Genevisible; Q96CT2; HS.
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; 3.
DR SMART; SM00875; BACK; 1.
DR SMART; SM00225; BTB; 1.
DR SMART; SM00612; Kelch; 6.
DR SUPFAM; SSF117281; SSF117281; 1.
DR SUPFAM; SSF54695; SSF54695; 1.
DR PROSITE; PS50097; BTB; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Kelch repeat; Reference proteome; Repeat.
FT CHAIN 1..875
FT /note="Kelch-like protein 29"
FT /id="PRO_0000119086"
FT DOMAIN 329..401
FT /note="BTB"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00037"
FT REPEAT 585..635
FT /note="Kelch 1"
FT REPEAT 637..683
FT /note="Kelch 2"
FT REPEAT 684..730
FT /note="Kelch 3"
FT REPEAT 732..778
FT /note="Kelch 4"
FT REPEAT 779..821
FT /note="Kelch 5"
FT REPEAT 822..870
FT /note="Kelch 6"
FT REGION 115..145
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 248..291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 115..130
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 259..273
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 274..291
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 703..875
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_010403"
FT CONFLICT 312
FT /note="P -> R (in Ref. 1; CAD39171)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 875 AA; 94228 MW; 9B2EBF4F5D0099DD CRC64;
MSRHHSRFER DYRVGWDRRE WSVNGTHGTT SICSVTSGAG GGTASSLSVR PGLLPLPVVP
SRLPTPATAP APCTTGSSEA ITSLVASSAS AVTTKAPGIS KGDSQSQGLA TSIRWGQTPI
NQSTPWDTDE PPSKQMRESD NPGTGPWVTT VAAGNQPTLI AHSYGVAQPP TFSPAVNVQA
PVIGVTPSLP PHVGPQLPLM PGHYSLPQPP SQPLSSVVVN MPAQALYASP QPLAVSTLPG
VGQVARPGPT AVGNGHMAGP LLPPPPPAQP SATLPSGAPA TNGPPTTDSA HGLQMLRTIG
VGKYEFTDPG HPREMLKELN QQRRAKAFTD LKIVVEGREF EVHQNVLASC SLYFKDLIQR
SVQDSGQGGR EKLELVLSNL QADVLELLLE FVYTGSLVID SANAKTLLEA ASKFQFHTFC
KVCVSFLEKQ LTASNCLGVL AMAEAMQCSE LYHMAKAFAL QIFPEVAAQE EILSISKDDF
IAYVSNDSLN TKAEELVYET VIKWIKKDPA TRTQYAAELL AVVRLPFIHP SYLLNVVDNE
ELIKSSEACR DLVNEAKRYH MLPHARQEMQ TPRTRPRLSA GVAEVIVLVG GRQMVGMTQR
SLVAVTCWNP QNNKWYPLAS LPFYDREFFS VVSAGDNIYL SGGMESGVTL ADVWCYMSLL
DNWNLVSRMT VPRCRHNSLV YDGKIYTLGG LGVAGNVDHV ERYDTITNQW EAVAPLPKAV
HSAAATVCGG KIYVFGGVNE AGRAAGVLQS YVPQTNTWSF IESPMIDNKY APAVTLNGFV
FILGGAYARA TTIYDPEKGN IKAGPNMNHS RQFCSAVVLD GKIYATGGIV SSEGPALGNM
EAYEPTTNTW TLLPHMPCPV FRHGCVVIKK YIQSG
