Gene Gene information from NCBI Gene database.
Entrez ID 128602
Gene name Ciliary microtubule inner protein 1
Gene symbol CIMIP1
Synonyms (NCBI Gene)
C20orf85LLC1bA196N14.1
Chromosome 20
Chromosome location 20q13.32
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT017541 hsa-miR-335-5p Microarray 18185580
MIRT844366 hsa-miR-103a CLIP-seq
MIRT844367 hsa-miR-107 CLIP-seq
MIRT844368 hsa-miR-1285 CLIP-seq
MIRT844369 hsa-miR-3065-3p CLIP-seq
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:0005515 Function Protein binding IPI 32296183
GO:0005929 Component Cilium IDA 25786037
GO:0005929 Component Cilium IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619277 16216 ENSG00000124237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1P6
Protein name Ciliary microtubule inner protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14945 LLC1 16 135 Normal lung function maintenance, Low in Lung Cancer 1 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in airway epithelial cells, renal tubular cells, pancreatic acinar cells and epithelial cells of the stomach, duodenum, and gallbladder (at protein level). {ECO:0000269|PubMed:25786037}.
Sequence
Sequence length 137
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VIRAL PNEUMONIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations