KLHL1 (kelch like family member 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 57626
Gene name Kelch like family member 1
Gene symbol KLHL1
Synonyms (NCBI Gene)
MRP2
Chromosome 13
Chromosome location 13q21.33
Summary The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT017546 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding NAS 10888605
GO:0005515 Function Protein binding IPI 22632832, 25036637, 30190310, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 10888605
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605332 6352 ENSG00000150361
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR64
Protein name Kelch-like protein 1
Protein function May play a role in organizing the actin cytoskeleton of the brain cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 202 → 309 BTB/POZ domain Domain
PF07707 BACK 314 → 415 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 459 → 493 Kelch motif Repeat
PF01344 Kelch_1 495 → 540 Kelch motif Repeat
PF01344 Kelch_1 542 → 587 Kelch motif Repeat
PF01344 Kelch_1 589 → 633 Kelch motif Repeat
PF01344 Kelch_1 636 → 687 Kelch motif Repeat
PF01344 Kelch_1 689 → 734 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain.
Sequence
Sequence length 748
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (14)
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
CHILDHOOD ONSET ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (77)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12816874
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30674943
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15070089
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 15070089
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma BEFREE 15688364
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12816874
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25890497
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 31379025 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Chronic Hepatitis Autoimmune hepatitis BEFREE 31697849
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 15262134
★★★★★
★☆☆☆☆
Found in Text Mining only