Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80311
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 15
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL15
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-305, XLID103
Disease Acronyms (UniProt) Disease acronyms from UniProt database
XLID103
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1060499748 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026433 hsa-miR-192-5p Microarray 19074876
MIRT030865 hsa-miR-21-5p Microarray 18591254
MIRT050580 hsa-miR-20a-5p CLASH 23622248
MIRT050580 hsa-miR-20a-5p CLASH 23622248
MIRT049095 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 27561354
GO:0005634 Component Nucleus IDA 27561354
GO:0006511 Process Ubiquitin-dependent protein catabolic process IDA 27561354
GO:0016567 Process Protein ubiquitination IEA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IDA 27561354
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300980 29347 ENSG00000174010
Protein
UniProt ID Q96M94
Protein name Kelch-like protein 15
Protein 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 ubiquitinat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 21 128 BTB/POZ domain Domain
PF07707 BACK 133 237 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 368 411 Kelch motif Repeat
PF01344 Kelch_1 477 529 Kelch motif Repeat
Sequence
MAGDVEGFCSSIHDTSVSAGFRALYEEGLLLDVTLVIEDHQFQAHKALLATQSDYFRIMF
TADMRERDQDKIHLKGLTATGFSHVLQFMYYGTIELSMNTVHEILQAAMYVQLIEVVKFC
CSFLLAKI
CLENCAEIMRLLDDFGVNIEGVREKLDTFLLDNFVPLMSRPDFLSYLSFEKL
MSYLDNDHLSRFPEIELYEAVQSWLRHDRRRWRHTDTIIQNIRFCLMTPTSVFEKVK
TSE
FYRYSRQLRYEVDQALNYFQNVHQQPLLDMKSSRIRSAKPQTTVFRGMIGHSMVNSKILL
LKKPRVWWELEGPQVPLRPDCLAIVNNFVFLLGGEELGPDGEFHASSKVFRYDPRQNSWL
QMADMSVPRSEFAVGVIGKFIYAVAGRTRDETFYSTERYDITNDKWEFVDPYPVNKYGHE
GTVLNNKLFITGGITSSSTSKQVCVFDPSKEGTIEQRTRRTQVVTNCWENKSKMNYARCF
HKMISYNGKLYVFGGVCVILRASFESQGCPSTEVYNPETDQWTILASMP
IGRSGHGVTVL
DKQIMVLGGLCYNGHYSDSILTFDPDENKWKEDEYPRMPCKLDGLQVCNLHFPDYVLDEV
RRCN
Sequence length 604
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
25644381
Mental retardation, x-linked MENTAL RETARDATION, X-LINKED 103 rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352
View all (405 more)
25644381
Associations from Text Mining
Disease Name Relationship Type References
Esophageal Neoplasms Associate 33960364
Pulmonary Fibrosis Associate 30756084