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

    Gene ID: 57565, updated on 17-Jun-2019

    Summary

    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
    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

    Genomic context

    See KLHL14 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (32672673..32773023, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (30252634..30353815, 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 WW domain binding protein 11 pseudogene 1 Neighboring gene uncharacterized LOC112268208 Neighboring gene uncharacterized LOC105372055 Neighboring gene ribosomal protein S27 pseudogene 28 Neighboring gene uncharacterized LOC105372058

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_020805.3NP_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
      Q9P2G3
      Related
      ENSP00000352314.4, ENST00000359358.8
      Conserved Domains (3) summary
      sd00038
      Location:363410
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:23181
      BTB; BTB/POZ domain
      cl28614
      Location:138600
      BTB; Broad-Complex, Tramtrack and Bric a brac

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011526109.2XP_011524411.2  kelch-like protein 14 isoform X1

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