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

    Gene ID: 143879, updated on 27-Dec-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
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.9), thyroid (RPKM 1.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KBTBD3 in Genome Data Viewer
    Location:
    11q22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (106051098..106077347, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (106055698..106081959, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation. Gu X, et al. Science, 2023 Aug 25. PMID 37616343, Free PMC Article

    See all (13) 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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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_2024_08

    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
      UniProtKB/TrEMBL
      A8K1K0

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

      UniProtKB/Swiss-Prot
      Q6N066, Q86X38, Q8NAB2, Q96NK5
      UniProtKB/TrEMBL
      A8K1K0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NAB2.3 GenPept UniProtKB/Swiss-Prot:Q8NAB2

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