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    KLHL6 kelch like family member 6 [ Homo sapiens (human) ]

    Gene ID: 89857, updated on 17-Jun-2019

    Summary

    Official Symbol
    KLHL6provided by HGNC
    Official Full Name
    kelch like family member 6provided by HGNC
    Primary source
    HGNC:HGNC:18653
    See related
    Ensembl:ENSG00000172578 MIM:614214
    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
    This gene encodes a member of the kelch-like (KLHL) family of proteins, which is involved in B-lymphocyte antigen receptor signaling and germinal-center B-cell maturation. The encoded protein contains an N-terminal broad-complex, tramtrack and bric a brac (BTB) domain that facilitates protein binding and dimerization, a BTB and C-terminal kelch (BACK) domain, and six C-terminal kelch repeat domains. Naturally occurring mutations in this gene are associated with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
    Expression
    Biased expression in lymph node (RPKM 24.5), appendix (RPKM 11.9) and 10 other tissues See more
    Orthologs

    Genomic context

    See KLHL6 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (183487551..183555711, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183205319..183273499, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 888 Neighboring gene small nucleolar RNA, H/ACA box 63D Neighboring gene small nucleolar RNA, H/ACA box 63E Neighboring gene KLHL6 antisense RNA 1 Neighboring gene prickle planar cell polarity protein 1 pseudogene Neighboring gene uncharacterized LOC105374248

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ00029

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    germinal center formation IEA
    Inferred from Electronic Annotation
    more info
     
    response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     

    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.

    Genomic

    1. NG_053012.1 RefSeqGene

      Range
      5001..73185
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_130446.4NP_569713.2  kelch-like protein 6

      See identical proteins and their annotated locations for NP_569713.2

      Status: REVIEWED

      Source sequence(s)
      AC092960, AK097125, BC032348, BP284594
      Consensus CDS
      CCDS3245.2
      UniProtKB/Swiss-Prot
      Q8WZ60
      Related
      ENSP00000341342.3, ENST00000341319.8
      Conserved Domains (6) summary
      smart00612
      Location:422468
      Kelch; Kelch domain
      smart00225
      Location:73165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:370407
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:62165
      BTB; BTB/POZ domain
      pfam01344
      Location:459503
      Kelch_1; Kelch motif
      pfam07707
      Location:174276
      BACK; BTB And C-terminal Kelch

    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_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      183487551..183555711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513273.3XP_011511575.1  kelch-like protein 6 isoform X1

      Conserved Domains (4) summary
      smart00612
      Location:295341
      Kelch; Kelch domain
      sd00038
      Location:243280
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:332376
      Kelch_1; Kelch motif
      pfam07707
      Location:47149
      BACK; BTB And C-terminal Kelch
    2. XM_011513274.3XP_011511576.1  kelch-like protein 6 isoform X2

      See identical proteins and their annotated locations for XP_011511576.1

      Conserved Domains (3) summary
      smart00225
      Location:73165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:62165
      BTB; BTB/POZ domain
      pfam07707
      Location:174276
      BACK; BTB And C-terminal Kelch

    RNA

    1. XR_924209.3 RNA Sequence

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