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    KBTBD12 kelch repeat and BTB domain containing 12 [ Homo sapiens (human) ]

    Gene ID: 166348, updated on 27-Dec-2024

    Summary

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    Official Symbol
    KBTBD12provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 12provided by HGNC
    Primary source
    HGNC:HGNC:25731
    See related
    Ensembl:ENSG00000187715 AllianceGenome:HGNC:25731
    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
    KLHDC6
    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
    Biased expression in heart (RPKM 3.3), stomach (RPKM 0.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KBTBD12 in Genome Data Viewer
    Location:
    3q21.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (127915232..127987677)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (130649819..130722268)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (127634075..127706520)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986129 Neighboring gene uncharacterized LOC105374096 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20475 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:127616018-127616222 Neighboring gene uncharacterized LOC124909427 Neighboring gene RNA, 5S ribosomal pseudogene 139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:127730388-127730888 Neighboring gene uncharacterized LOC102723759 Neighboring gene Sharpr-MPRA regulatory region 3038 Neighboring gene CRISPRi-FlowFISH-validated RPN1 regulatory element 1 Neighboring gene Sharpr-MPRA regulatory regions 9818 and 11773 Neighboring gene SEC61 translocon subunit alpha 1 Neighboring gene RuvB like AAA ATPase 1 Neighboring gene RNA, U2 small nuclear 37, pseudogene

    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. Identification of proteins that interact with alpha A-crystallin using a human proteome microarray. Fan Q, et al. Mol Vis, 2014. PMID 24453475, Free PMC Article
    2. The LIFEdb database in 2006. Mehrle A, et al. Nucleic Acids Res, 2006 Jan 1. PMID 16381901, Free PMC Article
    3. From ORFeome to biology: a functional genomics pipeline. Wiemann S, et al. Genome Res, 2004 Oct. PMID 15489336, Free PMC Article
    4. DNA cloning using in vitro site-specific recombination. Hartley JL, et al. Genome Res, 2000 Nov. PMID 11076863, Free PMC Article
    5. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    • FLJ46299, DKFZp779E2271

    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 12
    Names
    kelch domain containing 6
    kelch domain-containing protein 6
    kelch repeat and BTB (POZ) domain containing 12

    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_001370224.1 → NP_001357153.1  kelch repeat and BTB domain-containing protein 12

      Status: VALIDATED

      Source sequence(s)
      AC011311
      Consensus CDS
      CCDS33848.2
      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1
      Conserved Domains (4) summary
      PHA03098
      Location:29 → 586
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:375 → 422
      Kelch; KELCH repeat [structural motif]
      cd18276
      Location:10 → 136
      BTB_POZ_KBTBD12; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
      cd18485
      Location:128 → 227
      BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

    2. NM_207335.4 → NP_997218.2  kelch repeat and BTB domain-containing protein 12

      See identical proteins and their annotated locations for NP_997218.2

      Status: VALIDATED

      Source sequence(s)
      AC011311
      Consensus CDS
      CCDS33848.2
      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1
      Related
      ENSP00000385957.1, ENST00000405109.5
      Conserved Domains (4) summary
      PHA03098
      Location:29 → 586
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:375 → 422
      Kelch; KELCH repeat [structural motif]
      cd18276
      Location:10 → 136
      BTB_POZ_KBTBD12; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)
      cd18485
      Location:128 → 227
      BACK_KBTBD12; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing protein 12 (KBTBD12)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      127915232..127987677
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047447589.1 → XP_047303545.1  kelch repeat and BTB domain-containing protein 12 isoform X1

      UniProtKB/Swiss-Prot
      B5MCC6, Q3ZCT8, Q6ZRK1

    2. XM_047447590.1 → XP_047303546.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    3. XM_047447591.1 → XP_047303547.1  kelch repeat and BTB domain-containing protein 12 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      130649819..130722268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345489.1 → XP_054201464.1  kelch repeat and BTB domain-containing protein 12 isoform X2

    2. XM_054345488.1 → XP_054201463.1  kelch repeat and BTB domain-containing protein 12 isoform X1

    3. XM_054345490.1 → XP_054201465.1  kelch repeat and BTB domain-containing protein 12 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3ZCT8.2 GenPept UniProtKB/Swiss-Prot:Q3ZCT8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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