CACUL1 CDK2 associated cullin domain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CACUL1provided by HGNC
Official Full Name: CDK2 associated cullin domain 1provided by HGNC
Primary source: HGNC:HGNC:23727
See related: Ensembl:ENSG00000151893 MIM:618764; AllianceGenome:HGNC:23727
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAC1; C10orf46
Summary: Enables protein kinase binding activity. Involved in G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 11.0), bone marrow (RPKM 9.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (118676411..118754970, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (119571544..119650196, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (120435923..120514482, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
Title: The Skp1-Cullin1-FBXO1 complex is a pleiotropic regulator required for the formation of gametes and motile forms in Plasmodium berghei.
CDK-associated Cullin 1 Promotes Cell Proliferation and Inhibits Cell Apoptosis in Human Glioblastoma.
Title: CDK-associated Cullin 1 Promotes Cell Proliferation and Inhibits Cell Apoptosis in Human Glioblastoma.
CAC1 plays an important role in the occurrence and promotion of antineoplastic drug resistance in colorectal cancer. CAC1 knockdown resulted in decreased P-glycoprotein and MRP-1 protein expression.
Title: CAC1 knockdown reverses drug resistance through the downregulation of P-gp and MRP-1 expression in colorectal cancer.
These data suggest that CACUL1 is a novel regulator that negatively controls p53 activity through the regulation of PML SUMOylation.
Title: CACUL1/CAC1 attenuates p53 activity through PML post-translational modification.
Suggest that CACUL1 impairs LSD1-mediated activation of AR, thereby implicating it as a potential antitumor target in prostate cancer cells.
Title: CACUL1 functions as a negative regulator of androgen receptor in prostate cancer cells.
silencing CACUL1 resulted in the same effects of miR-106a* overexpression in esophageal carcinoma cells, including suppressed esophageal carcinoma cell proliferation and blocked G1/S transition through CDK2 pathway by inhibiting cell cycle regulators.
Title: miR-106a* inhibits the proliferation of esophageal carcinoma cells by targeting CDK2-associated Cullin 1 (CACUL1).
H. pylori-triggered CACUL1 production occurred in an activating protein 1-dependent manner and regulated matrix metalloproteinase 9 and Slug expression to affect the invasion and metastasis of tumor cells.
Title: Helicobacter pylori promotes invasion and metastasis of gastric cancer cells through activation of AP-1 and up-regulation of CACUL1.
CAC1 promoted the proliferation of human lung cancer A549 cells with activation of ERK1/2 signaling pathways.
Title: CDK-associated Cullin 1 promotes cell proliferation with activation of ERK1/2 in human lung cancer A549 cells.
High CAC1 expression is associated with cisplatin resistance in gastric cancer.
Title: CDK-associated Cullin 1 can promote cell proliferation and inhibit cisplatin-induced apoptosis in the AGS gastric cancer cell line.
miR-199a-5p can regulate CAC1 and function as a tumor suppressor in colorectal cancer.
Title: The deoxycholic acid targets miRNA-dependent CAC1 gene expression in multidrug resistance of human colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G32677 (e-PCR)
- UniSTS:117259

D11S2560 (e-PCR)
- UniSTS:37928

RH69427 (e-PCR)
- UniSTS:21820

D10S1627 (e-PCR)
- UniSTS:154186

WI-17887 (e-PCR)
- UniSTS:59509

G06209 (e-PCR)
- UniSTS:68751

D16S325 (e-PCR)
- UniSTS:147089

A009N08 (e-PCR)
- UniSTS:425

WI-16905 (e-PCR)
- UniSTS:82651

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G1/S transition of mitotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: CDK2-associated and cullin domain-containing protein 1

Names: Cdk-Associated Cullin1; cdk-associated cullin 1; cullin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.