CACUL1 (CDK2 associated cullin domain 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618764 23727 ENSG00000151893
Protein Protein information from UniProt database.
Gene SNPs 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.
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
APTLFSKFIPNILPPAVESELSEYAAQDQKFQRELIQNGFTRGDQSRKRAGDELAYNSSS
ACASSRGYR
Sequence length 369
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Flexion contracture Likely pathogenic rs1589602023 RCV001007822
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31374029, 32839427
Cholangiocarcinoma Associate 29436659
Colorectal Neoplasms Associate 32140074, 37381158
Mental Retardation X Linked Associate 17273978
Neoplasm Metastasis Associate 29475926
Neoplasms Associate 21159650, 29475926, 36138144, 37695034
Ovarian Neoplasms Associate 15075339
Stomach Neoplasms Associate 23311997