KLHL15 (kelch like family member 15)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1060499748 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2040)
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25036637, 27561354, 33199366, 33961781, 35219381
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 27561354
GO:0005634 Component Nucleus IEA
GO:0006511 Process Ubiquitin-dependent protein catabolic process IDA 27561354
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300980 29347 ENSG00000174010
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
CSFLLAKICLENCAEIMRLLDDFGVNIEGVREKLDTFLLDNFVPLMSRPDFLSYLSFEKL
MSYLDNDHLSRFPEIELYEAVQSWLRHDRRRWRHTDTIIQNIRFCLMTPTSVFEKVKTSE
FYRYSRQLRYEVDQALNYFQNVHQQPLLDMKSSRIRSAKPQTTVFRGMIGHSMVNSKILL
LKKPRVWWELEGPQVPLRPDCLAIVNNFVFLLGGEELGPDGEFHASSKVFRYDPRQNSWL
QMADMSVPRSEFAVGVIGKFIYAVAGRTRDETFYSTERYDITNDKWEFVDPYPVNKYGHE
GTVLNNKLFITGGITSSSTSKQVCVFDPSKEGTIEQRTRRTQVVTNCWENKSKMNYARCF
HKMISYNGKLYVFGGVCVILRASFESQGCPSTEVYNPETDQWTILASMPIGRSGHGVTVL
DKQIMVLGGLCYNGHYSDSILTFDPDENKWKEDEYPRMPCKLDGLQVCNLHFPDYVLDEV
RRCN
Sequence length 604
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 103 rs1929024034 N/A
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Esophageal Neoplasms Associate 33960364
Pulmonary Fibrosis Associate 30756084