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KBTBD3 kelch repeat and BTB domain containing 3 [ Homo sapiens (human) ]

Gene ID: 143879, updated on 7-Apr-2024

Summary

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Official Symbol
KBTBD3provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 3provided by HGNC
Primary source
HGNC:HGNC:22934
See related
Ensembl:ENSG00000182359 AllianceGenome:HGNC:22934
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
BKLHD3
Expression
Ubiquitous expression in brain (RPKM 1.9), thyroid (RPKM 1.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q22.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (106051098..106077347, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (106055698..106081959, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (105921825..105948074, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene glutamate ionotropic receptor AMPA type subunit 4 Neighboring gene uncharacterized LOC124902743 Neighboring gene RNA, U6 small nuclear 277, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5464 Neighboring gene Myb/SANT DNA binding domain containing 4 with coiled-coils Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5468 Neighboring gene aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase Neighboring gene long intergenic non-protein coding RNA 2719

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
  • 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. Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays. Yilmaz S, et al. Genomics, 2010 Jul. PMID 20353815
  2. Apocrine glands are bystanders in hidradenitis suppurativa and their involvement is gender specific. Zouboulis CC, et al. J Eur Acad Dermatol Venereol, 2020 Jul. PMID 32031713
  3. HSP27 and HSP70 interact with CD10 in C4-2 prostate cancer cells. Dall'Era MA, et al. Prostate, 2007 May 15. PMID 17342744
  4. Connecting the Dots in the Neuroglobin-Protein Interaction Network of an Unstressed and Ferroptotic Cell Death Neuroblastoma Model. Van Acker ZP, et al. Cells, 2019 Aug 11. PMID 31405213, Free PMC Article
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ritonavir (at 100 mg once daily and 100 mg twice daily significantly down-regulated Kelch domain containing 3 in 20 healthy individuals.
    Title: Investigation of low-dose ritonavir on human peripheral blood mononuclear cells using gene expression whole genome microarrays.
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

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

  • FLJ30685

General protein information

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Preferred Names
kelch repeat and BTB domain-containing protein 3
Names
BTB and kelch domain containing 3
BTB and kelch domain-containing protein 3
epididymis secretory sperm binding protein
kelch repeat and BTB (POZ) domain containing 3

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_001330359.2 → NP_001317288.1  kelch repeat and BTB domain-containing protein 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AP001001
    Consensus CDS
    CCDS81621.1
    UniProtKB/TrEMBL
    A0A384MTJ4, G3V161
    Related
    ENSP00000431910.1, ENST00000534815.1
    Conserved Domains (4) summary
    PHA03098
    Location:16 → 507
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:255 → 310
    Kelch; KELCH repeat [structural motif]
    cd18480
    Location:70 → 151
    BACK_KBTBD3; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)
    cl38908
    Location:1 → 78
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

  2. NM_152433.4 → NP_689646.2  kelch repeat and BTB domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_689646.2

    Status: VALIDATED

    Source sequence(s)
    AP001001, BC117466
    Consensus CDS
    CCDS8334.1
    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5
    UniProtKB/TrEMBL
    A8K1K0
    Related
    ENSP00000436262.1, ENST00000526793.5
    Conserved Domains (4) summary
    PHA03098
    Location:56 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:334 → 389
    Kelch; KELCH repeat [structural motif]
    cd18271
    Location:28 → 157
    BTB_POZ_KBTBD3_BKLHD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)
    cd18480
    Location:149 → 230
    BACK_KBTBD3; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)

  3. NM_198439.3 → NP_940841.1  kelch repeat and BTB domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_940841.1

    Status: VALIDATED

    Source sequence(s)
    AK289915, AP001001
    Consensus CDS
    CCDS8334.1
    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5
    UniProtKB/TrEMBL
    A8K1K0
    Related
    ENSP00000432163.1, ENST00000531837.2
    Conserved Domains (4) summary
    PHA03098
    Location:56 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:334 → 389
    Kelch; KELCH repeat [structural motif]
    cd18271
    Location:28 → 157
    BTB_POZ_KBTBD3_BKLHD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)
    cd18480
    Location:149 → 230
    BACK_KBTBD3; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    106051098..106077347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718767.4 → XP_006718830.1  kelch repeat and BTB domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_006718830.1

    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5
    UniProtKB/TrEMBL
    A8K1K0
    Conserved Domains (4) summary
    PHA03098
    Location:56 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:334 → 389
    Kelch; KELCH repeat [structural motif]
    cd18271
    Location:28 → 157
    BTB_POZ_KBTBD3_BKLHD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)
    cd18480
    Location:149 → 230
    BACK_KBTBD3; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)

  2. XM_011542618.3 → XP_011540920.1  kelch repeat and BTB domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011540920.1

    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5
    UniProtKB/TrEMBL
    A8K1K0
    Conserved Domains (4) summary
    PHA03098
    Location:56 → 586
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:334 → 389
    Kelch; KELCH repeat [structural motif]
    cd18271
    Location:28 → 157
    BTB_POZ_KBTBD3_BKLHD3; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)
    cd18480
    Location:149 → 230
    BACK_KBTBD3; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 3 (KBTBD3)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    106055698..106081959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367761.1 → XP_054223736.1  kelch repeat and BTB domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5

  2. XM_054367762.1 → XP_054223737.1  kelch repeat and BTB domain-containing protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q6N066, Q86X38, Q8NAB2, Q96NK5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NAB2.3 GenPept UniProtKB/Swiss-Prot:Q8NAB2

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