KLHL15
entrez
80311
canonical
uniprot
Q96M94
canonical
ensembl
ENSG00000174010
resolver
ensp
ENSP00000332791
resolver
ensp
ENSP00000508713
resolver
ensp
ENSP00000509439
resolver
ensp
ENSP00000509509
resolver
ensp
ENSP00000509774
resolver
ensp
ENSP00000604108
resolver
ensp
ENSP00000642083
resolver
enst
ENST00000328046
resolver
enst
ENST00000684871
resolver
enst
ENST00000685367
resolver
enst
ENST00000689334
resolver
enst
ENST00000693269
resolver
enst
ENST00000934049
resolver
enst
ENST00000972024
resolver
genesymbol
HEL-S-305
resolver
genesymbol
KLHL15
resolver
genesymbol_syn
KIAA1677
resolver
genesymbol_syn
KLHL15
resolver
hgnc
HGNC:29347
resolver
uniprot
Q32MN3
resolver
uniprot
Q8NDA3
resolver
uniprot
Q96BM6
resolver
uniprot
Q9C0I6
resolver
uniprot
V9HWF1
resolver
uniprot_entry
KLH15_HUMAN
resolver
uniprot_entry
V9HWF1_HUMAN
resolver
uniprot_sec
Q32MN3
resolver
uniprot_sec
Q8NDA3
resolver
uniprot_sec
Q96BM6
resolver
uniprot_sec
Q9C0I6
resolver
amino_acid_sequence
MAGDVEGFCSSIHDTSVSAGFRALYEEGLLLDVTLVIEDHQFQAHKALLATQSDYFRIMFTADMRERDQDKIHLKGLTATGFSHVLQFMYYGTIELSMNTVHEILQAAMYVQLIEVVKFCCSFLLAKICLENCAEIMRLLDDFGVNIEGVREKLDTFLLDNFVPLMSRPDFLSYLSFEKLMSYLDNDHLSRFPEIELYEAVQSWLRHDRRRWRHTDTIIQNIRFCLMTPTSVFEKVKTSEFYRYSRQLRYEVDQALNYFQNVHQQPLLDMKSSRIRSAKPQTTVFRGMIGHSMVNSKILLLKKPRVWWELEGPQVPLRPDCLAIVNNFVFLLGGEELGPDGEFHASSKVFRYDPRQNSWLQMADMSVPRSEFAVGVIGKFIYAVAGRTRDETFYSTERYDITNDKWEFVDPYPVNKYGHEGTVLNNKLFITGGITSSSTSKQVCVFDPSKEGTIEQRTRRTQVVTNCWENKSKMNYARCFHKMISYNGKLYVFGGVCVILRASFESQGCPSTEVYNPETDQWTILASMPIGRSGHGVTVLDKQIMVLGGLCYNGHYSDSILTFDPDENKWKEDEYPRMPCKLDGLQVCNLHFPDYVLDEVRRCN
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, X-linked 103 (XLID103) [MIM:300982]: A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:24817631, ECO:0000269|PubMed:25644381}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Substrate-specific adapter for CUL3 E3 ubiquitin-protein ligase complex (PubMed:14528312, PubMed:27561354, PubMed:35219381). Acts as an adapter for CUL3 to target the serine/threonine-protein phosphatase 2A (PP2A) subunit PPP2R5B for ubiquitination and subsequent proteasomal degradation, thus promoting exchange with other regulatory subunits (PubMed:23135275). Acts as an adapter for CUL3 to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation (PubMed:27561354, PubMed:35219381). Through the regulation of RBBP8/CtIP protein turnover, plays a key role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:27561354, PubMed:35219381). {ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:23135275, ECO:0000269|PubMed:27561354, ECO:0000269|PubMed:35219381}.
uniprot
proteins
mass_dalton
69775
uniprot
proteins
mutagenesis
MUTAGEN 32; /note="D->A: Impaired homodimerization and PPP2R5B proteasomal degradation. No effect on PPP2R5B-binding."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 45; /note="H->L: No effect on homodimerization, PPP2R5B-binding, nor on PPP2R5B proteasomal degradation."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 72..75; /note="IHLK->AHAA: No effect on PPP2R5B-binding, nor on homodimerization, but loss of CUL3 recruitment to the KLHL15/PPP2R5B complex and impaired PPP2R5B proteasomal degradation."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 132; /note="N->A: Decreased interaction with CUL3, especially with the neddylated form of CUL3."; /evidence="ECO:0000269|PubMed:27561354"; MUTAGEN 136; /note="I->A: Decreased interaction with CUL3, especially with the neddylated form of CUL3."; /evidence="ECO:0000269|PubMed:27561354"; MUTAGEN 318; /note="R->E: Impaired PPP2R5B-binding and proteasomal degradation."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 335..337; /note="EEL->REA: Impaired PPP2R5B-binding and proteasomal degradation."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 371; /note="E->R: Impaired PPP2R5B-binding and proteasomal degradation."; /evidence="ECO:0000269|PubMed:23135275"; MUTAGEN 386; /note="G->C: Decreased interaction with RBBP8 and complete loss of nuclear localization, found exclusively in the cytoplasm."; /evidence="ECO:0000269|PubMed:27561354"; MUTAGEN 552; /note="Y->A: Decreased interaction with RBBP8 and increased DNA-end resection and homologous recombination frequency following DNA double-strand breaks compared to the wild-type protein. No significant change in subcellular location."; /evidence="ECO:0000269|PubMed:27561354
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:27561354, ECO:0000269|PubMed:35219381}.
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
14528312
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23135275
uniprot
proteins
pubmed
24817631
uniprot
proteins
pubmed
25644381
uniprot
proteins
pubmed
27561354
uniprot
proteins
pubmed
35219381
uniprot
proteins
sequence_length
604
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27561354}.
uniprot
proteins