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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
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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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Related articles in PubMed

  1. Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Puente XS, et al. Nature, 2011 Jun 5. PMID 21642962, Free PMC Article
  2. Global hypomethylation identifies Loci targeted for hypermethylation in head and neck cancer. Poage GM, et al. Clin Cancer Res, 2011 Jun 1. PMID 21505061, Free PMC Article
  3. Molecular ontogeny of donor-derived follicular lymphomas occurring after hematopoietic cell transplantation. Weigert O, et al. Cancer Discov, 2012 Jan. PMID 22585168, Free PMC Article
  4. Genetic and epigenetic variants contributing to clofarabine cytotoxicity. Eadon MT, et al. Hum Mol Genet, 2013 Oct 1. PMID 23720496, Free PMC Article
  5. Lymphocyte-rich classical Hodgkin's lymphoma: distinctive tumor and microenvironment markers. Nam-Cha SH, et al. Mod Pathol, 2009 Aug. PMID 19465900

See all (37) citations in PubMed

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 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

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

Gene LinkOut

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