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

Gene ID: 9920, updated on 1-Jun-2020

Summary

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
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

Genomic context

See KBTBD11 in Genome Data Viewer
Location:
8p23.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (1970718..2006943)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1921949..1955109)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene microRNA 596 Neighboring gene uncharacterized LOC100131395 Neighboring gene uncharacterized LOC101928058 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene VISTA enhancer hs2514 Neighboring gene myomesin 2 Neighboring gene microRNA 7160

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0711

General protein information

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)

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_014867.3NP_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
    Related
    ENSP00000321544.3, ENST00000320248.4
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    1970718..2006943
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534771.2XP_011533073.1  kelch repeat and BTB domain-containing protein 11 isoform X1

    See identical proteins and their annotated locations for XP_011533073.1

    UniProtKB/Swiss-Prot
    O94819
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)
  2. XM_011534772.2XP_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
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)
  3. XM_017014116.1XP_016869605.1  kelch repeat and BTB domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    O94819
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)
  4. XM_017014114.2XP_016869603.1  kelch repeat and BTB domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    O94819
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)
  5. XM_017014115.2XP_016869604.1  kelch repeat and BTB domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    O94819
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)
  6. XM_017014117.2XP_016869606.1  kelch repeat and BTB domain-containing protein 11 isoform X1

    UniProtKB/Swiss-Prot
    O94819
    Conserved Domains (6) summary
    smart00612
    Location:413449
    Kelch; Kelch domain
    smart00225
    Location:141226
    BTB; Broad-Complex, Tramtrack and Bric a brac
    sd00038
    Location:350398
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:141225
    BTB; BTB/POZ domain
    pfam01344
    Location:348399
    Kelch_1; Kelch motif
    pfam05334
    Location:54136
    DUF719; Protein of unknown function (DUF719)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187576.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    157053..190312
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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