CACUL1 (CDK2 associated cullin domain 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
143384
Gene name Gene Name - the full gene name approved by the HGNC.
CDK2 associated cullin domain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CACUL1
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf46, CAC1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
618764 23727 ENSG00000151893
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital finger flexion contractures Flexion contracture rs1589602023 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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