CLUAP1 (clusterin associated protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616787 19009 ENSG00000103351
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Intraflagellar transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Joubert syndrome Likely pathogenic rs768663992 RCV000496983
Leber congenital amaurosis Pathogenic rs751218423 RCV000210897
Toriello-Lacassie-Droste syndrome Pathogenic rs751218423 RCV000210001
Show/Hide Unknown Diseases (13)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs59492947, rs371974141 RCV005914385
RCV005909085
Cholangiocarcinoma Benign rs75800384 RCV005905907
CLUAP1-related disorder Benign; Likely benign rs11554091, rs79133712, rs35065818, rs34157154, rs377448455, rs34115694, rs75800384 RCV003921132
RCV003921133
RCV003931041
RCV004758185
RCV003933587
RCV003915937
RCV003940647
Gastric cancer Benign rs59492947 RCV005914388
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26949549
COVID 19 Associate 33536081
Immotile cilia syndrome due to excessively long cilia Associate 33536081