Gene Gene information from NCBI Gene database.
Entrez ID 51088
Gene name Kelch like family member 5
Gene symbol KLHL5
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4p14
miRNA miRNA information provided by mirtarbase database.
427
miRTarBase ID miRNA Experiments Reference
MIRT018473 hsa-miR-335-5p Microarray 18185580
MIRT020925 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT724517 hsa-miR-4517 HITS-CLIP 19536157
MIRT724516 hsa-miR-5583-3p HITS-CLIP 19536157
MIRT724515 hsa-miR-3127-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 21145461, 21988832, 30190310, 31652307, 34591642
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm NAS 14672410
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608064 6356 ENSG00000109790
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PQ7
Protein name Kelch-like protein 5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 210 317 BTB/POZ domain Domain
PF07707 BACK 322 423 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 467 501 Kelch motif Repeat
PF01344 Kelch_1 503 548 Kelch motif Repeat
PF01344 Kelch_1 550 595 Kelch motif Repeat
PF01344 Kelch_1 597 642 Kelch motif Repeat
PF01344 Kelch_1 644 695 Kelch motif Repeat
PF01344 Kelch_1 697 741 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in adrenal gland, ovary and thyroid gland and less abundantly in lymph node, prostate, spinal cord, testis and trachea.
Sequence
Sequence length 755
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Hemangioma capillary infantile Associate 36181115
★☆☆☆☆
Found in Text Mining only
Liver Diseases Associate 37981173
★☆☆☆☆
Found in Text Mining only