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    KLHL14 kelch like family member 14 [ Homo sapiens (human) ]

    Gene ID: 57565, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KLHL14provided by HGNC
    Official Full Name
    kelch like family member 14provided by HGNC
    Primary source
    HGNC:HGNC:29266
    See related
    Ensembl:ENSG00000197705 MIM:613772; AllianceGenome:HGNC:29266
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    The protein encoded by this gene is a member of the Kelch-like gene family, whose members contain a BTB/POZ domain, a BACK domain, and several Kelch domains. The encoded protein possesses six Kelch domains and localizes to the endoplasmic reticulum, where it interacts with torsin-1A. [provided by RefSeq, Sep 2015]
    Expression
    Biased expression in thyroid (RPKM 4.4), spleen (RPKM 2.8) and 10 other tissues See more
    Orthologs
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    Genomic context

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    See KLHL14 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32672673..32773023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (32864443..32964769, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (30252636..30352986, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene GRB2 associated regulator of MAPK1 subtype 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30128498-30129051 Neighboring gene WBP11 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:30159089-30159609 Neighboring gene uncharacterized LOC112268208 Neighboring gene uncharacterized LOC105372055 Neighboring gene ribosomal protein S27 pseudogene 28 Neighboring gene uncharacterized LOC105372058 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:30466839-30468038

    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. Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14. Choi J, et al. Proc Natl Acad Sci U S A, 2020 Mar 17. PMID 32127472, Free PMC Article
    2. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. Vater I, et al. Leukemia, 2015 Mar. PMID 25189415
    3. Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis. Giles LM, et al. J Biol Chem, 2009 Aug 7. PMID 19535332, Free PMC Article
    4. Regulation of Torsin ATPases by LAP1 and LULL1. Zhao C, et al. Proc Natl Acad Sci U S A, 2013 Apr 23. PMID 23569223, Free PMC Article
    5. Update on the Kelch-like (KLHL) gene family. Dhanoa BS, et al. Hum Genomics, 2013 May 15. PMID 23676014, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel tumor suppressor, KLHL14, is a subunit of a ubiquitin ligase that associates with the endoplasmic reticulum-associated protein degradation machinery. KLHL14 promotes ubiquitylation of B cell receptor (BCR) subunits and decreases the stability of immature BCR glycoforms in the endoplasmic reticulum, thereby reducing BCR levels. Conversely, loss of KLHL14 promotes BCR-dependent NF-kappaB activation and survival.
      Title: Regulation of B cell receptor-dependent NF-κB signaling by the tumor suppressor KLHL14.
    2. TorsinA ATP hydrolysis is induced upon association with LAP1 and LULL1, type II transmembrane proteins residing in the nuclear envelope and endoplasmic reticulum.
      Title: Regulation of Torsin ATPases by LAP1 and LULL1.
    3. 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.
    4. Printor is a torsinA-interacting protein implicated in dystonia pathogenesis
      Title: Printor, a novel torsinA-interacting protein implicated in dystonia pathogenesis.
    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kelch-like protein 14
    Names
    kelch-like 14
    printor
    protein interactor of Torsin-1A

    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_020805.3 → NP_065856.1  kelch-like protein 14

      See identical proteins and their annotated locations for NP_065856.1

      Status: REVIEWED

      Source sequence(s)
      AB037805, AC012123
      Consensus CDS
      CCDS32813.1
      UniProtKB/Swiss-Prot
      A6NNW1, B4DHA0, Q8WU41, Q9P2G3
      Related
      ENSP00000352314.4, ENST00000359358.9
      Conserved Domains (4) summary
      PHA03098
      Location:138 → 600
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:363 → 410
      Kelch; KELCH repeat [structural motif]
      cd18243
      Location:1 → 188
      BTB_POZ_KLHL14_printor; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch-like protein 14 (KLHL14)
      cd18453
      Location:181 → 282
      BACK_KLHL14; BACK (BTB and C-terminal Kelch) domain found in Kelch-like protein 14 (KLHL14)

    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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      32672673..32773023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437684.1 → XP_047293640.1  kelch-like protein 14 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      32864443..32964769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318886.1 → XP_054174861.1  kelch-like protein 14 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2G3.2 GenPept UniProtKB/Swiss-Prot:Q9P2G3

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