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

Gene ID: 89857, updated on 7-Jun-2020

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
109.20200522 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
    5007..73162
    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 Updated 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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