KLHL21 kelch like family member 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLHL21provided by HGNC
Official Full Name: kelch like family member 21provided by HGNC
Primary source: HGNC:HGNC:29041
See related: Ensembl:ENSG00000162413 MIM:616262; AllianceGenome:HGNC:29041
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables cullin family protein binding activity. Contributes to ubiquitin-protein transferase activity. Involved in chromosome passenger complex localization to spindle midzone; protein ubiquitination; and regulation of cytokinesis. Located in polar microtubule. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in fat (RPKM 17.4), ovary (RPKM 14.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (6590724..6602869, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (6116388..6128533, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (6650784..6662929, complement)

Chromosome 1 - NC_000001.11 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?

KLHL21 plays an essential role in the tumorigenesis and progression of cholangiocarcinoma.
Title: Inhibition of KLHL21 prevents cholangiocarcinoma progression through regulating cell proliferation and motility, arresting cell cycle and reducing Erk activation.
Our study suggests that KLHL21 is a potential target for therapeutic intervention. Our findings also provide novel candidate genes on a genome-wide scale, which may have significant impact on the design and execution of effective therapy of HCC patients.
Title: KLHL21, a novel gene that contributes to the progression of hepatocellular carcinoma.
data clearly demonstrate that KLHL21 negatively regulates TNFalpha-activated NF-kappaB signaling via targeting IKKbeta, providing new insight into the mechanisms underlying NF-kappaB regulation in cells.
Title: Kelch-like Protein 21 (KLHL21) Targets IκB Kinase-β to Regulate Nuclear Factor κ-Light Chain Enhancer of Activated B Cells (NF-κB) Signaling Negatively.
KLHL21 localizes to midzone microtubules in anaphase & recruits aurora B & Cul3 to this region; results suggest that different Cul3 adaptors nonredundantly regulate aurora B during mitosis, possibly by ubiquitinating different pools of aurora B
Title: The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis.

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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

D11S2921 (e-PCR)
- UniSTS:152074

D1S1873E (e-PCR)
- UniSTS:38991

D1S3612 (e-PCR)
- UniSTS:37852

A002O35 (e-PCR)
- UniSTS:76518

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cullin family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell cycle	IEA Inferred from Electronic Annotation more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in chromosome passenger complex localization to spindle midzone	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of Cul3-RING ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in polar microtubule	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: kelch-like protein 21

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.

mRNA and Protein(s)

NM_001324309.2 → NP_001311238.1 kelch-like protein 21 isoform 2

Status: VALIDATED

Source sequence(s)

AL591866

Related

ENSP00000366891.3, ENST00000377663.3

Conserved Domains (5) summary

PHA03098
Location:49 → 493

PHA03098; kelch-like protein; Provisional

sd00038
Location:326 → 368

Kelch; KELCH repeat [structural motif]

pfam00651
Location:25 → 130

BTB; BTB/POZ domain

pfam01344
Location:327 → 368

Kelch_1; Kelch motif

pfam07707
Location:138 → 239

BACK; BTB And C-terminal Kelch
NM_014851.4 → NP_055666.2 kelch-like protein 21 isoform 1

See identical proteins and their annotated locations for NP_055666.2

Status: VALIDATED

Source sequence(s)

AB007938, BC064980

Consensus CDS

CCDS30575.1

UniProtKB/Swiss-Prot

B3KQP2, O75057, Q5SY26, Q5SY28, Q8N4I6, Q8NF10, Q9UJP4

Related

ENSP00000366886.4, ENST00000377658.8

Conserved Domains (7) summary

smart00612
Location:482 → 512

Kelch; Kelch domain

PHA03098
Location:49 → 547

PHA03098; kelch-like protein; Provisional

sd00038
Location:326 → 368

Kelch; KELCH repeat [structural motif]

pfam00651
Location:25 → 130

BTB; BTB/POZ domain

pfam01344
Location:327 → 368

Kelch_1; Kelch motif

pfam07707
Location:138 → 239

BACK; BTB And C-terminal Kelch

pfam13964
Location:502 → 549

Kelch_6; Kelch motif