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Gene Gene information from NCBI Gene database.
Entrez ID 54813
Gene name Kelch like family member 28
Gene symbol KLHL28
Synonyms (NCBI Gene)
BTBD5
Chromosome 14
Chromosome location 14q21.2
miRNA miRNA information provided by mirtarbase database.
1596 Show/Hide all (1596)
miRTarBase ID miRNA Experiments Reference
MIRT019169 hsa-miR-335-5p Microarray 18185580
MIRT020091 hsa-miR-361-5p Sequencing 20371350
MIRT020268 hsa-miR-130b-3p Sequencing 20371350
MIRT020377 hsa-miR-29c-3p Sequencing 20371350
MIRT023404 hsa-miR-30b-5p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0031463 Component Cul3-RING ubiquitin ligase complex IBA
GO:0043161 Process Proteasome-mediated ubiquitin-dependent protein catabolic process IBA
GO:1990756 Function Ubiquitin-like ligase-substrate adaptor activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NXS3
Protein name Kelch-like protein 28 (BTB/POZ domain-containing protein 5)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 25 → 132 BTB/POZ domain Domain
PF01344 Kelch_1 422 → 466 Kelch motif Repeat
PF01344 Kelch_1 515 → 559 Kelch motif Repeat
PF01344 Kelch_1 320 → 373 Kelch motif Repeat
PF01344 Kelch_1 375 → 420 Kelch motif Repeat
PF01344 Kelch_1 468 → 513 Kelch motif Repeat
PF07707 BACK 137 → 239 BTB And C-terminal Kelch Domain
Sequence
Sequence length 571
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Malignant tumor of esophagus Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations