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    KLHL23 kelch like family member 23 [ Homo sapiens (human) ]

    Gene ID: 151230, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KLHL23provided by HGNC
    Official Full Name
    kelch like family member 23provided by HGNC
    Primary source
    HGNC:HGNC:27506
    See related
    Ensembl:ENSG00000213160 AllianceGenome:HGNC:27506
    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
    DITHP
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 12.1), brain (RPKM 7.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLHL23 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169733832..169751878)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (170213406..170231829)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (170590342..170608388)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene PHOSPHO2-KLHL23 readthrough Neighboring gene uncharacterized LOC124906089 Neighboring gene small nucleolar RNA SNORA51 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12085 Neighboring gene thioredoxin 1 pseudogene 7 Neighboring gene patched domain containing 3 pseudogene 2

    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. Downregulation of two novel genes in Sl/Sld and W(LacZ)/Wv mouse jejunum. Wouters MM, et al. Biochem Biophys Res Commun, 2006 Jul 28. PMID 16765319
    2. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Kato K, et al. J Hum Genet, 2021 May. PMID 33130828
    3. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article
    4. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article
    5. A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development. Asmar AJ, et al. Nat Commun, 2023 Jul 26. PMID 37495603, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    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

    Readthrough PHOSPHO2-KLHL23

    Readthrough gene: PHOSPHO2-KLHL23, Included gene: PHOSPHO2

    Homology

    Clone Names

    • MGC2610, FLJ37812, FLJ41460, MGC22679

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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-like protein 23
    Names
    kelch-like 23

    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_144711.6 → NP_653312.2  kelch-like protein 23

      See identical proteins and their annotated locations for NP_653312.2

      Status: VALIDATED

      Source sequence(s)
      AC009967, BC010437, BE326381, BJ990781
      UniProtKB/Swiss-Prot
      Q8N9B9, Q8NBE8, Q96FT8
      Related
      ENSP00000376419.2, ENST00000392647.7
      Conserved Domains (4) summary
      PHA03098
      Location:45 → 545
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:359 → 402
      Kelch; KELCH repeat [structural motif]
      cd18252
      Location:15 → 141
      BTB_POZ_KLHL23; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 23 (KLHL23)
      cd18462
      Location:134 → 235
      BACK_KLHL23; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 23 (KLHL23)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      169733832..169751878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      170213406..170231829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NBE8.1 GenPept UniProtKB/Swiss-Prot:Q8NBE8

    Gene LinkOut

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

    Chemical Information
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