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

    Gene ID: 89857, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:18653
    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
    mouse all
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    Genomic context

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    See KLHL6 in Genome Data Viewer
    Location:
    3q27.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (183487551..183555706, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (186295709..186363954, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (183205339..183273494, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 33 Neighboring gene small nucleolar RNA, H/ACA box 63E Neighboring gene TVP23C pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:183195987-183196522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20889 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:183216746-183216942 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:183225616-183226815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20891 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:183236404-183236904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14941 Neighboring gene KLHL6 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183280328-183280828 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:183280829-183281329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20895 Neighboring gene Sharpr-MPRA regulatory region 1359 Neighboring gene PRICKLE1 pseudogene 1 Neighboring gene uncharacterized LOC105374248

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.
      Title: Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2.
    2. KLHL6 was positive mainly in B-cell neoplasms of germinal center derivation, including 95% of follicular lymphomas (106/112)
      Title: KLHL6 Is Preferentially Expressed in Germinal Center-Derived B-Cell Lymphomas.
    3. Abnormal expression of the KLHL6 oncogene promoted gastric cancer progression in vitro and in vivo, and its expression level in tumor tissue was found to be of prognostic value.
      Title: Prognostic value of the cancer oncogene Kelch-like 6 in gastric cancer.
    4. report that KLHL6, which is recurrently mutated in B cell lymphomas, is an off-target of the normal somatic hypermutation process taking place in germinal center (GC) B cells leaving open whether, despite the lack of impact of Klhl6 deficiency on GC B cell expansion, mutants could contribute to the oncogenic process
      Title: Klhl6 Deficiency Impairs Transitional B Cell Survival and Differentiation.
    5. characterization of two genes expressed in centroblasts of human tonsils: deltex (Drosophila) homolog 1 (DTX1), which is related to the Notch pathway and a new Kelch-like protein, KLHL6
      Title: Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells.
    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 Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00029

    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 B cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in germinal center formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    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 6

    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.

    Genomic

    1. NG_053012.1 RefSeqGene

      Range
      5007..73162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_130446.4 → NP_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
      B2RB31, D3DNS8, Q8N5I1, Q8N892, Q8WZ60
      UniProtKB/TrEMBL
      A0A0C4DGF2
      Related
      ENSP00000341342.3, ENST00000341319.8
      Conserved Domains (6) summary
      smart00612
      Location:422 → 468
      Kelch; Kelch domain
      smart00225
      Location:73 → 165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00038
      Location:370 → 407
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:62 → 165
      BTB; BTB/POZ domain
      pfam01344
      Location:459 → 503
      Kelch_1; Kelch motif
      pfam07707
      Location:174 → 276
      BACK; BTB And C-terminal Kelch

    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
      183487551..183555706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513274.4 → XP_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:73 → 165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      pfam00651
      Location:62 → 165
      BTB; BTB/POZ domain
      pfam07707
      Location:174 → 276
      BACK; BTB And C-terminal Kelch

    2. XM_011513273.4 → XP_011511575.1  kelch-like protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A0C4DGF2
      Conserved Domains (4) summary
      smart00612
      Location:295 → 341
      Kelch; Kelch domain
      sd00038
      Location:243 → 280
      Kelch; KELCH repeat [structural motif]
      pfam01344
      Location:332 → 376
      Kelch_1; Kelch motif
      pfam07707
      Location:47 → 149
      BACK; BTB And C-terminal Kelch

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      186295709..186363954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348292.1 → XP_054204267.1  kelch-like protein 6 isoform X2

    2. XM_054348291.1 → XP_054204266.1  kelch-like protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WZ60.3 GenPept UniProtKB/Swiss-Prot:Q8WZ60

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

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