Gene Gene information from NCBI Gene database.
Entrez ID 23059
Gene name Clusterin associated protein 1
Gene symbol CLUAP1
Synonyms (NCBI Gene)
CFAP22FAP22IFT38
Chromosome 16
Chromosome location 16p13.3
Summary The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs751218423 C>T Uncertain-significance, pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs768663992 T>G Likely-pathogenic Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, missense variant
rs769705065 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
553
miRTarBase ID miRNA Experiments Reference
MIRT019263 hsa-miR-148b-3p Microarray 17612493
MIRT020563 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT021596 hsa-miR-142-3p Microarray 17612493
MIRT025089 hsa-miR-181a-5p Microarray 17612493
MIRT046308 hsa-miR-23b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0001843 Process Neural tube closure IEA
GO:0001947 Process Heart looping IEA
GO:0005515 Function Protein binding IPI 16189514, 25416956, 26389662, 28514442, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616787 19009 ENSG00000103351
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AJ1
Protein name Clusterin-associated protein 1 (Qilin)
Protein function Required for cilia biogenesis. Appears to function within the multiple intraflagellar transport complex B (IFT-B). Key regulator of hedgehog signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10234 Cluap1 14 283 Clusterin-associated protein-1 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis, thyroid and trachea and to a lower extent in spinal cord and adrenal gland. Highly expressed in colon cancer and osteosarcoma cell lines. {ECO:0000269|PubMed:15480429, ECO:0000269|PubMed:17203229}.
Sequence
Sequence length 413
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Intraflagellar transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
23
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Joubert syndrome Likely pathogenic rs768663992 RCV000496983
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis Pathogenic rs751218423 RCV000210897
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Toriello-Lacassie-Droste syndrome Pathogenic rs751218423 RCV000210001
★★★★☆
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
Acute myeloid leukemia Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
2-3 toe syndactyly Syndactyly Of The Toes CLINVAR_DG 28679688
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26949549 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 15480429
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms LHGDN 15480429
★☆☆☆☆
Found in Text Mining only
Familial aplasia of the vermis Cerebellar vermis agenesis CLINVAR_DG 28679688
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Developmental Delay CLINVAR_DG 28679688
★☆☆☆☆
Found in Text Mining only
Leber Congenital Amaurosis Leber Congenital Amaurosis CLINVAR_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Neoplasms Lung Neoplasms LHGDN 17203229
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 15480429
★☆☆☆☆
Found in Text Mining only