Gene Gene information from NCBI Gene database.
Entrez ID 143384
Gene name CDK2 associated cullin domain 1
Gene symbol CACUL1
Synonyms (NCBI Gene)
C10orf46CAC1
Chromosome 10
Chromosome location 10q26.11
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1589602023 AG>- Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
974
miRTarBase ID miRNA Experiments Reference
MIRT022907 hsa-miR-124-3p Microarray 18668037
MIRT049767 hsa-miR-92a-3p CLASH 23622248
MIRT038577 hsa-miR-106b-3p CLASH 23622248
MIRT705036 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT177025 hsa-miR-105-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle IMP 19829063
GO:0005515 Function Protein binding IPI 23178685, 28169274
GO:0006511 Process Ubiquitin-dependent protein catabolic process IEA
GO:0008284 Process Positive regulation of cell population proliferation IMP 19829063
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618764 23727 ENSG00000151893
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86Y37
Protein name CDK2-associated and cullin domain-containing protein 1 (Cdk-associated cullin 1)
Protein function Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00888 Cullin 137 327 Cullin family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with highest expression in the mammary gland and large intestine. Highly expressed in cancer tissues and cancer cell lines. During cell cycle progression expression is high in G1/S, low in the middle of S phase,
Sequence
MEESMEEEEGGSYEAMMDDQNHNNWEAAVDGFRQPLPPPPPPSSIPAPAREPPGGQLLAV
PAVSVDRKGPKEGLPMGPQPPPEANGVIMMLKSCDAAAAVAKAAPAPTASSTININTSTS
KFLMNVITIEDYKSTYWPKLDGAIDQLLTQSPGDYIPISYEQIYSCVYKCVCQQHSEQMY
SDLIKKITNHLERVSKELQASPPDLYIERFNIALGQYMGALQSIVPLFIYMNKFYIETKL
NRDLKDDLIKLFTEHVAEKHIYSLMPLLLEAQSTPFQVTPSTMANIVKGLYTLRPEWVQM
APTLFSKFIPNILPPAVESELSEYAAQ
DQKFQRELIQNGFTRGDQSRKRAGDELAYNSSS
ACASSRGYR
Sequence length 369
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Flexion contracture Likely pathogenic rs1589602023 RCV001007822
★★★★☆
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
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
Adenoma of large intestine Colorectal adenoma BEFREE 28471937
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23178685, 26544623, 31374029
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31374029, 32839427 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 23806693
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 25490527
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 28465455, 30590498, 31486775, 31784032
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29153576
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 29436659 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 22903020, 31504073
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer CTD_human_DG 25944804
★☆☆☆☆
Found in Text Mining only