KLHL20
entrez
27252
canonical
uniprot
Q9Y2M5
canonical
ensembl
ENSG00000076321
resolver
ensp
ENSP00000209884
resolver
ensp
ENSP00000615374
resolver
ensp
ENSP00000672666
resolver
ensp
ENSP00000672668
resolver
genesymbol
KLHL20
resolver
genesymbol_syn
KLEIP
resolver
genesymbol_syn
KLHLX
resolver
hgnc
HGNC:25056
resolver
uniprot
B3KMA0
resolver
uniprot
B4DUR0
resolver
uniprot
Q5TZF2
resolver
uniprot
Q5ZF45
resolver
uniprot
Q9H457
resolver
uniprot_entry
KLH20_HUMAN
resolver
uniprot_sec
B3KMA0
resolver
uniprot_sec
B4DUR0
resolver
uniprot_sec
Q5TZF2
resolver
uniprot_sec
Q5ZF45
resolver
uniprot_sec
Q9H457
resolver
amino_acid_sequence
MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINLLRKHRELCDVVLVVGAKKIYAHRVILSACSPYFRAMFTGELAESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQLAEIQEACCEFLKRQLDPSNCLGIRAFADTHSCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNVRSEEQVFNAVMAWVKYSIQERRPQLPQVLQHVRLPLLSPKFLVGTVGSDPLIKSDEECRDLVDEAKNYLLLPQERPLMQGPRTRPRKPIRCGEVLFAVGGWCSGDAISSVERYDPQTNEWRMVASMSKRRCGVGVSVLDDLLYAVGGHDGSSYLNSVERYDPKTNQWSSDVAPTSTCRTSVGVAVLGGFLYAVGGQDGVSCLNIVERYDPKENKWTRVASMSTRRLGVAVAVLGGFLYAVGGSDGTSPLNTVERYNPQENRWHTIAPMGTRRKHLGCAVYQDMIYAVGGRDDTTELSSAERYNPRTNQWSPVVAMTSRRSGVGLAVVNGQLMAVGGFDGTTYLKTIEVFDPDANTWRLYGGMNYRRLGGGVGVIKMTHCESHIW
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities (NEDSZFB) [MIM:621390]: An autosomal dominant disorder characterized by mild to severe intellectual disability, febrile seizures or epilepsy, autism spectrum disorder, hyperactivity, and subtle dysmorphic facial features. {ECO:0000269|PubMed:36214804, ECO:0000269|PubMed:38513146}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, potentiating HIF-1 signaling and cancer progression (PubMed:21840486). {ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:17395875, ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539}.
uniprot
proteins
mass_dalton
67955
uniprot
proteins
mutagenesis
MUTAGEN 109; /note="V->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-111; A-113; A-146; A-148 and A-150."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539"; MUTAGEN 111; /note="I->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-113; A-146; A-148 and A-150."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539"; MUTAGEN 113; /note="D->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-146; A-148 and A-150."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539"; MUTAGEN 146; /note="C->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-148 and A-150."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539"; MUTAGEN 148; /note="L->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-146 and A-150."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539"; MUTAGEN 150; /note="L->A: In KLHL20m6; abolishes interaction with CUL3; when associated with A-109; A-111; A-113; A-146 and A-148."; /evidence="ECO:0000269|PubMed:20389280, ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486, ECO:0000269|PubMed:24768539
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
pubmed
14528312
uniprot
proteins
pubmed
14668487
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17395875
uniprot
proteins
pubmed
20389280
uniprot
proteins
pubmed
21670212
uniprot
proteins
pubmed
21840486
uniprot
proteins
pubmed
24768539
uniprot
proteins
pubmed
25619834
uniprot
proteins
pubmed
36214804
uniprot
proteins
pubmed
38513146
uniprot
proteins
sequence_length
609
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:20389280}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:24768539}. Cell projection, axon {ECO:0000250|UniProtKB:D3Z8N4}. Cell projection, dendrite {ECO:0000250|UniProtKB:D3Z8N4}. Note=Localizes in the perinuclear region in normal conditions. Following IFN-alpha or IFN-gamma treatment, it is relocalized and sequestrated to the PML nuclear bodies, preventing DAPK1 ubiquitination (PubMed:20389280). {ECO:0000269|PubMed:20389280}.
uniprot
proteins