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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
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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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