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

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; 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

B318WE9 (e-PCR)
- UniSTS:4162

D10S16 (e-PCR)
- UniSTS:155756

RH122732 (e-PCR)
- UniSTS:134003

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

GDB:315881 (e-PCR)
- UniSTS:156545

SHGC-154287 (e-PCR)
- UniSTS:178052

SHGC-64766 (e-PCR)
- UniSTS:167668

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

NG_053012.1 RefSeqGene

Range

5007..73162

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

183487551..183555706 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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