KLHL20 (kelch like family member 20)

2011-10-01  

Identity

HGNC
LOCATION
1q25.1
LOCUSID
ALIAS
KHLHX,KLEIP,KLHLX
FUSION GENES

Other Information

Locus ID:

NCBI: 27252
MIM: 617679
HGNC: 25056
Ensembl: ENSG00000076321

Variants:

dbSNP: 27252
ClinVar: 27252
TCGA: ENSG00000076321
COSMIC: KLHL20

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000076321ENST00000209884Q9Y2M5
ENSG00000076321ENST00000209884A0A024R940

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
362148042022De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.1
362148042022De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.1
312796272019Structural Basis for Recruitment of DAPK1 to the KLHL20 E3 Ligase.11
312796272019Structural Basis for Recruitment of DAPK1 to the KLHL20 E3 Ligase.11
266876812016Cul3-KLHL20 Ubiquitin Ligase Governs the Turnover of ULK1 and VPS34 Complexes to Control Autophagy Termination.116
266876812016Cul3-KLHL20 Ubiquitin Ligase Governs the Turnover of ULK1 and VPS34 Complexes to Control Autophagy Termination.116
247685392014K33-Linked Polyubiquitination of Coronin 7 by Cul3-KLHL20 Ubiquitin E3 Ligase Regulates Protein Trafficking.79
247685392014K33-Linked Polyubiquitination of Coronin 7 by Cul3-KLHL20 Ubiquitin E3 Ligase Regulates Protein Trafficking.79
218404862011A Cullin3-KLHL20 Ubiquitin ligase-dependent pathway targets PML to potentiate HIF-1 signaling and prostate cancer progression.88
218888972011Kelch-like 20 up-regulates the expression of hypoxia-inducible factor-2α through hypoxia- and von Hippel-Lindau tumor suppressor protein-independent regulatory mechanisms.7
218404862011A Cullin3-KLHL20 Ubiquitin ligase-dependent pathway targets PML to potentiate HIF-1 signaling and prostate cancer progression.88
218888972011Kelch-like 20 up-regulates the expression of hypoxia-inducible factor-2α through hypoxia- and von Hippel-Lindau tumor suppressor protein-independent regulatory mechanisms.7
203892802010The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses.60
203892802010The Cullin 3 substrate adaptor KLHL20 mediates DAPK ubiquitination to control interferon responses.60
173958752007The BTB-Kelch protein KLEIP controls endothelial migration and sprouting angiogenesis.11

Citation

Dessen P

KLHL20 (kelch like family member 20)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52461/js/tumors-explorer/