KLHL29(2p24.1), KBTBD9

1.  https://www.ncbi.nlm.nih.gov/gene/114818
2.   Also known as

   KBTBD9

   Expression

   Ubiquitous expression in adrenal (RPKM 5.0), prostate (RPKM 2.9) and 24 other tissues See more

3. Conserved Domains (5) summary

   smart00612
   Location:495 → 540

   Kelch; Kelch domain

   PHA03098
   Location:49 → 567

   PHA03098; kelch-like protein; Provisional

   sd00038
   Location:437 → 479

   Kelch; KELCH repeat [structural motif]

   pfam00651
   Location:39 → 142

   BTB; BTB/POZ domain

   pfam07707
   Location:151 → 253

4. 
   
   kelch-like protein 29 [Homo sapiens]
   

   NCBI Reference Sequence: NP_443152.1

   Identical Proteins FASTA Graphics
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   LOCUS       NP_443152                875 aa            linear   PRI 10-OCT-2019
   DEFINITION  kelch-like protein 29 [Homo sapiens].
   ACCESSION   NP_443152 XP_001717506 XP_001717585 XP_945468
   VERSION     NP_443152.1
   DBSOURCE    REFSEQ: accession NM_052920.2
   KEYWORDS    RefSeq; MANE Select.
   SOURCE      Homo sapiens (human)
     ORGANISM  Homo sapiens
               Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
               Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
               Catarrhini; Hominidae; Homo.
   REFERENCE   1  (residues 1 to 875)
     AUTHORS   Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K,
               Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G,
               Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson
               BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP and
               Harper JW.
     TITLE     Architecture of the human interactome defines protein communities
               and disease networks
     JOURNAL   Nature 545 (7655), 505-509 (2017)
      PUBMED   28514442
   REFERENCE   2  (residues 1 to 875)
     AUTHORS   Sun Z, Ke X, Salzberg SL, Kim D, Antonescu V, Cheng Y, Huang B,
               Song JH, Abraham JM, Ibrahim S, Tian H and Meltzer SJ.
     TITLE     The novel fusion transcript NR5A2-KLHL29FT is generated by an
               insertion at the KLHL29 locus
     JOURNAL   Cancer 123 (9), 1507-1515 (2017)
      PUBMED   28081303
     REMARK    GeneRIF: The fusion transcript NR5A2-KLHL29FT was identified in
               normal and cancerous colonic epithelia. It is due to an
               uncharacterized polymorphic germline insertion of the NR5A2
               sequence from chromosome 1 into the KLHL29 locus at chromosome 2,
               rather than a chromosomal rearrangement. NR5A2-KLH29FT expression
               levels were significantly lower in colon cancers than in matched
               normal colonic epithelia.
   REFERENCE   3  (residues 1 to 875)
     AUTHORS   Mychaleckyj JC, Havt A, Nayak U, Pinkerton R, Farber E, Concannon
               P, Lima AA and Guerrant RL.
     TITLE     Genome-Wide Analysis in Brazilians Reveals Highly Differentiated
               Native American Genome Regions
     JOURNAL   Mol. Biol. Evol. 34 (3), 559-574 (2017)
      PUBMED   28100790
     REMARK    GeneRIF: Brazilian Amerindian ancestry compared to Asian, European,
               and African Genomes.SNPs within or proximal to CIITA (rs6498115),
               SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated
               in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391),
               DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and
               CIITA (rs45601437) in the Asian comparison.
   REFERENCE   4  (residues 1 to 875)
     AUTHORS   Taipale M, Tucker G, Peng J, Krykbaeva I, Lin ZY, Larsen B, Choi H,
               Berger B, Gingras AC and Lindquist S.
     TITLE     A quantitative chaperone interaction network reveals the
               architecture of cellular protein homeostasis pathways
     JOURNAL   Cell 158 (2), 434-448 (2014)
      PUBMED   25036637
   REFERENCE   5  (residues 1 to 875)
     AUTHORS   Dhanoa BS, Cogliati T, Satish AG, Bruford EA and Friedman JS.
     TITLE     Update on the Kelch-like (KLHL) gene family
     JOURNAL   Hum. Genomics 7, 13 (2013)
      PUBMED   23676014
     REMARK    Publication Status: Online-Only
   REFERENCE   6  (residues 1 to 875)
     AUTHORS   Comuzzie AG, Cole SA, Laston SL, Voruganti VS, Haack K, Gibbs RA
               and Butte NF.
     TITLE     Novel genetic loci identified for the pathophysiology of childhood
               obesity in the Hispanic population
     JOURNAL   PLoS ONE 7 (12), e51954 (2012)
      PUBMED   23251661
   REFERENCE   7  (residues 1 to 875)
     AUTHORS   Murea M, Lu L, Ma L, Hicks PJ, Divers J, McDonough CW, Langefeld
               CD, Bowden DW and Freedman BI.
     TITLE     Genome-wide association scan for survival on dialysis in
               African-Americans with type 2 diabetes
     JOURNAL   Am. J. Nephrol. 33 (6), 502-509 (2011)
      PUBMED   21546767
   REFERENCE   8  (residues 1 to 875)
     AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
               Yusuf S, Gerstein HC, Engert JC and Anand S.
     CONSRTM   DREAM investigators
     TITLE     Variation at the NFATC2 locus increases the risk of
               thiazolidinedione-induced edema in the Diabetes REduction
               Assessment with ramipril and rosiglitazone Medication (DREAM) study
     JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
      PUBMED   20628086
     REMARK    GeneRIF: Observational study of gene-disease association,
               gene-environment interaction, and pharmacogenomic / toxicogenomic.
               (HuGE Navigator)
   REFERENCE   9  (residues 1 to 875)
     AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
               TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
               Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
               Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
               Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
               Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
               and Hingorani AD.
     CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
     TITLE     Gene-centric association signals for lipids and apolipoproteins
               identified via the HumanCVD BeadChip
     JOURNAL   Am. J. Hum. Genet. 85 (5), 628-642 (2009)
      PUBMED   19913121
     REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
               Navigator)
   REFERENCE   10 (residues 1 to 875)
     AUTHORS   Trynka G, Zhernakova A, Romanos J, Franke L, Hunt KA, Turner G,
               Bruinenberg M, Heap GA, Platteel M, Ryan AW, de Kovel C, Holmes GK,
               Howdle PD, Walters JR, Sanders DS, Mulder CJ, Mearin ML, Verbeek
               WH, Trimble V, Stevens FM, Kelleher D, Barisani D, Bardella MT,
               McManus R, van Heel DA and Wijmenga C.
     TITLE     Coeliac disease-associated risk variants in TNFAIP3(KCTD13) and REL
               implicate altered NF-kappaB signalling
     JOURNAL   Gut 58 (8), 1078-1083 (2009)
      PUBMED   19240061
     REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
               Navigator)
   COMMENT     VALIDATED REFSEQ: This record has undergone validation or
               preliminary review. The reference sequence was derived from
               AC012506.9, AC011239.5, DR002067.1, BC013982.1, AB067508.1 and
               BE142100.1.
               On or before Aug 30, 2009 this sequence version replaced
               XP_945468.2, XP_001717506.2, XP_001717585.2.
               
               Sequence Note: This RefSeq record was created from transcript and
               genomic sequence data to make the sequence consistent with the
               reference genome assembly. The genomic coordinates used for the
               transcript record were based on transcript alignments.
               
               ##Evidence-Data-START##
               RNAseq introns :: single sample supports all introns SAMEA2145544,
                                 SAMEA2146236 [ECO:0000348]
               ##Evidence-Data-END##
               
               ##RefSeq-Attributes-START##
               MANE Ensembl match     :: ENST00000486442.6/ ENSP00000420659.1
               RefSeq Select criteria :: based on conservation, expression,
                                         longest protein
               ##RefSeq-Attributes-END##
   FEATURES             Location/Qualifiers
        source          1..875
                        /organism="Homo sapiens"
                        /db_xref="taxon:9606"
                        /chromosome="2"
                        /map="2p24.1"
        Protein         1..875
                        /product="kelch-like protein 29"
                        /note="kelch repeat and BTB (POZ) domain containing 9;
                        kelch repeat and BTB domain-containing protein 9;
                        kelch-like 29"
                        /calculated_mol_wt=94098
        Region          319..427
                        /region_name="BTB"
                        /note="BTB/POZ domain; pfam00651"
                        /db_xref="CDD:279045"
        Region          333..860
                        /region_name="PHA03098"
                        /note="kelch-like protein; Provisional"
                        /db_xref="CDD:222983"
        Region          436..537
                        /region_name="BACK"
                        /note="BTB And C-terminal Kelch; pfam07707"
                        /db_xref="CDD:285009"
        Site            order(444..446,449)
                        /site_type="other"
                        /note="Cullin binding site [polypeptide binding]"
                        /db_xref="CDD:269808"
        Site            order(459..460,467..468,472,477..478,480..481,483..485,
                        487..488)
                        /site_type="other"
                        /note="putative dimer interface [polypeptide binding]"
                        /db_xref="CDD:269808"
        Region          577..621
                        /region_name="KELCH repeat"
                        /note="KELCH repeat [structural motif]"
                        /db_xref="CDD:276965"
        Region          585..635
                        /region_name="Kelch 1"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        Region          626..669
                        /region_name="KELCH repeat"
                        /note="KELCH repeat [structural motif]"
                        /db_xref="CDD:276965"
        Region          637..683
                        /region_name="Kelch 2"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        Region          638..683
                        /region_name="Kelch"
                        /note="Kelch domain; smart00612"
                        /db_xref="CDD:128874"
        Region          672..717
                        /region_name="Kelch_1"
                        /note="Kelch motif; pfam01344"
                        /db_xref="CDD:279660"
        Region          673..716
                        /region_name="KELCH repeat"
                        /note="KELCH repeat [structural motif]"
                        /db_xref="CDD:276965"
        Region          684..730
                        /region_name="Kelch 3"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        Region          720..808
                        /region_name="KELCH repeat"
                        /note="KELCH repeat [structural motif]"
                        /db_xref="CDD:276965"
        Region          721..765
                        /region_name="Kelch_1"
                        /note="Kelch motif; pfam01344"
                        /db_xref="CDD:279660"
        Region          732..778
                        /region_name="Kelch 4"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        Region          779..821
                        /region_name="Kelch 5"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        Region          811..857
                        /region_name="KELCH repeat"
                        /note="KELCH repeat [structural motif]"
                        /db_xref="CDD:276965"
        Region          822..870
                        /region_name="Kelch"
                        /note="Kelch domain; smart00612"
                        /db_xref="CDD:128874"
        Region          822..870
                        /region_name="Kelch 6"
                        /experiment="experimental evidence, no additional details
                        recorded"
                        /note="propagated from UniProtKB/Swiss-Prot (Q96CT2.3)"
        CDS             1..875
                        /gene="KLHL29"
                        /gene_synonym="KBTBD9"
                        /coded_by="NM_052920.2:756..3383"
                        /db_xref="CCDS:CCDS54335.1"
                        /db_xref="GeneID:114818"
                        /db_xref="HGNC:HGNC:29404"
   ORIGIN      
           1 msrhhsrfer dyrvgwdrre wsvngthgtt sicsvtsgag ggtasslsvr pgllplpvvp
          61 srlptpatap apcttgssea itslvassas avttkapgis kgdsqsqgla tsirwgqtpi
         121 nqstpwdtde ppskqmresd npgtgpwvtt vaagnqptli ahsygvaqpp tfspavnvqa
         181 pvigvtpslp phvgpqlplm pghyslpqpp sqplssvvvn mpaqalyasp qplavstlpg
         241 vgqvarpgpt avgnghmagp llpppppaqp satlpsgapa tngppttdsa hglqmlrtig
         301 vgkyeftdpg hpremlkeln qqrrakaftd lkivvegref evhqnvlasc slyfkdliqr
         361 svqdsgqggr eklelvlsnl qadvlellle fvytgslvid sanaktllea askfqfhtfc
         421 kvcvsflekq ltasnclgvl amaeamqcse lyhmakafal qifpevaaqe eilsiskddf
         481 iayvsndsln tkaeelvyet vikwikkdpa trtqyaaell avvrlpfihp syllnvvdne
         541 eliksseacr dlvneakryh mlpharqemq tprtrprlsa gvaevivlvg grqmvgmtqr
         601 slvavtcwnp qnnkwyplas lpfydreffs vvsagdniyl sggmesgvtl advwcymsll
         661 dnwnlvsrmt vprcrhnslv ydgkiytlgg lgvagnvdhv erydtitnqw eavaplpkav
         721 hsaaatvcgg kiyvfggvne agraagvlqs yvpqtntwsf iespmidnky apavtlngfv
         781 filggayara ttiydpekgn ikagpnmnhs rqfcsavvld gkiyatggiv ssegpalgnm
         841 eayepttntw tllphmpcpv frhgcvvikk yiqsg
   //

5.