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    KBTBD11 kelch repeat and BTB domain containing 11 [ Homo sapiens (human) ]

    Gene ID: 9920, updated on 17-Sep-2024

    Summary

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    Official Symbol
    KBTBD11provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 11provided by HGNC
    Primary source
    HGNC:HGNC:29104
    See related
    Ensembl:ENSG00000176595 MIM:618794; AllianceGenome:HGNC:29104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KLHDC7C
    Expression
    Broad expression in brain (RPKM 16.2), kidney (RPKM 8.3) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KBTBD11 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (1973677..2006936)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (1749730..1785512)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1921843..1955102)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene uncharacterized LOC100131395 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1894594-1894745 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1897836-1898336 Neighboring gene KBTBD11 antisense RNA 1 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926713-1927271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:1926153-1926712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:1969593-1970582 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:1978746-1978950 Neighboring gene VISTA enhancer hs2514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2005611-2006111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2008946-2009868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2009869-2010789 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:2012487-2013034 Neighboring gene myomesin 2 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2049318-2050517 Neighboring gene microRNA 7160 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2084289-2084796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2085784-2086284 Neighboring gene uncharacterized LOC105377781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:2128908-2129408 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:2130059-2130239

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. KBTBD11, a novel BTB-Kelch protein, is a negative regulator of osteoclastogenesis through controlling Cullin3-mediated ubiquitination of NFATc1. Narahara S, et al. Sci Rep, 2019 Mar 5. PMID 30837587, Free PMC Article
    2. A polymorphic MYC response element in KBTBD11 influences colorectal cancer risk, especially in interaction with an MYC-regulated SNP rs6983267. Gong J, et al. Ann Oncol, 2018 Mar 1. PMID 29267898
    3. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Ranta S, et al. Genome Res, 1997 Sep. PMID 9314494
    4. Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10. Verhoeven K, et al. Am J Hum Genet, 2003 Oct. PMID 14508709, Free PMC Article
    5. Genome-wide association study of selenium concentrations. Cornelis MC, et al. Hum Mol Genet, 2015 Mar 1. PMID 25343990, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our study highlighted the high colorectal cancer risk of people carrying MYC rs6983267 G and KBTBD11 rs11777210 C alleles
      Title: A polymorphic MYC response element in KBTBD11 influences colorectal cancer risk, especially in interaction with an MYC-regulated SNP rs6983267.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0711

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 11
    Names
    chronic myelogenous leukemia-associated protein
    kelch domain-containing protein 7B
    kelch repeat and BTB (POZ) domain containing 11

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_014867.3 → NP_055682.1  kelch repeat and BTB domain-containing protein 11

      See identical proteins and their annotated locations for NP_055682.1

      Status: VALIDATED

      Source sequence(s)
      AB018254, AC019257
      Consensus CDS
      CCDS34795.1
      UniProtKB/Swiss-Prot
      O94819, Q3L1I0
      Related
      ENSP00000321544.3, ENST00000320248.4
      Conserved Domains (6) summary
      smart00612
      Location:413 → 449
      Kelch; Kelch domain
      smart00225
      Location:141 → 226
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:350 → 398
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:141 → 225
      BTB; BTB/POZ domain
      pfam01344
      Location:348 → 399
      Kelch_1; Kelch motif
      pfam05334
      Location:54 → 136
      DUF719; Protein of unknown function (DUF719)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      1973677..2006936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534772.3 → XP_011533074.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      See identical proteins and their annotated locations for XP_011533074.1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0
      Conserved Domains (6) summary
      smart00612
      Location:413 → 449
      Kelch; Kelch domain
      smart00225
      Location:141 → 226
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:350 → 398
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:141 → 225
      BTB; BTB/POZ domain
      pfam01344
      Location:348 → 399
      Kelch_1; Kelch motif
      pfam05334
      Location:54 → 136
      DUF719; Protein of unknown function (DUF719)

    2. XM_017014116.2 → XP_016869605.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0
      Conserved Domains (6) summary
      smart00612
      Location:413 → 449
      Kelch; Kelch domain
      smart00225
      Location:141 → 226
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:350 → 398
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:141 → 225
      BTB; BTB/POZ domain
      pfam01344
      Location:348 → 399
      Kelch_1; Kelch motif
      pfam05334
      Location:54 → 136
      DUF719; Protein of unknown function (DUF719)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187576.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      154313..190312
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328841.1 → XP_054184816.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0

    2. XM_054328843.1 → XP_054184818.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0

    3. XM_054328844.1 → XP_054184819.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0

    4. XM_054328842.1 → XP_054184817.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      1749730..1785512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361640.1 → XP_054217615.1  kelch repeat and BTB domain-containing protein 11 isoform X1

      UniProtKB/Swiss-Prot
      O94819, Q3L1I0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O94819.1 GenPept UniProtKB/Swiss-Prot:O94819

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