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Aliases for CACUL1 Gene

Aliases for CACUL1 Gene

  • CDK2 Associated Cullin Domain 1 2 3 5
  • Cdk-Associated Cullin1 2 3 4
  • C10orf46 3 4
  • CAC1 3 4
  • CDK2-Associated And Cullin Domain-Containing Protein 1 3
  • Chromosome 10 Open Reading Frame 46 2
  • CDK2-Associated, Cullin Domain 1 2
  • Cullin 3

External Ids for CACUL1 Gene

Previous HGNC Symbols for CACUL1 Gene

  • C10orf46

Previous GeneCards Identifiers for CACUL1 Gene

  • GC10M120433

Summaries for CACUL1 Gene

GeneCards Summary for CACUL1 Gene

CACUL1 (CDK2 Associated Cullin Domain 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein kinase binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for CACUL1 Gene

  • Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.

Additional gene information for CACUL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CACUL1 Gene

Genomics for CACUL1 Gene

GeneHancer (GH) Regulatory Elements for CACUL1 Gene

Promoters and enhancers for CACUL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I118752 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 580.4 +0.9 914 3.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF207 ZNF143 CACUL1 GC10P118694
GH10I118725 Enhancer 1 Ensembl ENCODE 42.9 +29.0 28967 0.9 INSM2 FEZF1 ZNF2 ZNF366 ZSCAN5C RCOR1 ZNF391 KLF13 OVOL3 ZNF398 CACUL1 PRLHR GC10P118694
GH10I118743 Enhancer 0.8 Ensembl ENCODE 35.1 +10.4 10407 1.8 GTF3C2 ZNF202 JUND JUN STAT3 CEBPB ZNF600 EP300 CACUL1 TIAL1 RPL17P36 ENSG00000231104 GC10P118694
GH10I118729 Enhancer 1 Ensembl ENCODE 27.9 +23.9 23930 4.6 ZNF449 JUN FEZF1 IRF4 GATA3 ZNF766 POLR2A ATF7 ETV6 IKZF2 CACUL1 PRLHR GC10P118694
GH10I118698 Enhancer 1 Ensembl ENCODE 25 +56.3 56296 1.1 HDGF SMAD1 NFIB KLF17 BATF IRF4 GATA2 ATF7 ETV6 IKZF2 CACUL1 GC10P118694
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CACUL1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CACUL1 Gene

Genomic Locations for CACUL1 Gene
chr10:118,672,993-118,755,249
(GRCh38/hg38)
Size:
82,257 bases
Orientation:
Minus strand
chr10:120,433,679-120,514,761
(GRCh37/hg19)

Genomic View for CACUL1 Gene

Genes around CACUL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CACUL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CACUL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CACUL1 Gene

Proteins for CACUL1 Gene

  • Protein details for CACUL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Y37-CACL1_HUMAN
    Recommended name:
    CDK2-associated and cullin domain-containing protein 1
    Protein Accession:
    Q86Y37
    Secondary Accessions:
    • Q5XPL7
    • Q8IY11
    • Q8N7S4

    Protein attributes for CACUL1 Gene

    Size:
    369 amino acids
    Molecular mass:
    41064 Da
    Quaternary structure:
    • Interacts with CDK2.
    SequenceCaution:
    • Sequence=AAU89709.1; Type=Frameshift; Positions=296; Evidence={ECO:0000305};

    Alternative splice isoforms for CACUL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CACUL1 Gene

Post-translational modifications for CACUL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CACUL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CACUL1 Gene

Domains & Families for CACUL1 Gene

Gene Families for CACUL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CACUL1 Gene

Suggested Antigen Peptide Sequences for CACUL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86Y37

UniProtKB/Swiss-Prot:

CACL1_HUMAN :
  • Belongs to the cullin family.
Family:
  • Belongs to the cullin family.
genes like me logo Genes that share domains with CACUL1: view

Function for CACUL1 Gene

Molecular function for CACUL1 Gene

UniProtKB/Swiss-Prot Function:
Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.

Gene Ontology (GO) - Molecular Function for CACUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23178685
GO:0019901 protein kinase binding IPI 19829063
GO:0031625 ubiquitin protein ligase binding IBA --
GO:0061630 contributes_to ubiquitin protein ligase activity IBA --
genes like me logo Genes that share ontologies with CACUL1: view
genes like me logo Genes that share phenotypes with CACUL1: view

Animal Model Products

miRNA for CACUL1 Gene

miRTarBase miRNAs that target CACUL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CACUL1 Gene

Localization for CACUL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CACUL1 gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CACUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031461 cullin-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with CACUL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CACUL1 Gene

Pathways & Interactions for CACUL1 Gene

SuperPathways for CACUL1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CACUL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 19829063
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0007049 cell cycle IEA --
GO:0008284 positive regulation of cell proliferation IMP 19829063
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with CACUL1: view

No data available for Pathways by source and SIGNOR curated interactions for CACUL1 Gene

Drugs & Compounds for CACUL1 Gene

(2) Drugs for CACUL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CACUL1: view

Transcripts for CACUL1 Gene

Unigene Clusters for CACUL1 Gene

CDK2-associated, cullin domain 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CACUL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:

Relevant External Links for CACUL1 Gene

GeneLoc Exon Structure for
CACUL1
ECgene alternative splicing isoforms for
CACUL1

Expression for CACUL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CACUL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CACUL1 Gene

This gene is overexpressed in Frontal cortex (29.4), Placenta (18.2), and Testis (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CACUL1 Gene



Protein tissue co-expression partners for CACUL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of CACUL1 Gene:

CACUL1

SOURCE GeneReport for Unigene cluster for CACUL1 Gene:

Hs.420024

mRNA Expression by UniProt/SwissProt for CACUL1 Gene:

Q86Y37-CACL1_HUMAN
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, and increases again in S/G2 phase.

Evidence on tissue expression from TISSUES for CACUL1 Gene

  • Nervous system(2.9)
  • Lung(2)
genes like me logo Genes that share expression patterns with CACUL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CACUL1 Gene

Orthologs for CACUL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CACUL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CACUL1 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia CACUL1 33 34
  • 97.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CACUL1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CACUL1 33 34
  • 94.34 (n)
mouse
(Mus musculus)
Mammalia Cacul1 33 16 34
  • 90.38 (n)
rat
(Rattus norvegicus)
Mammalia Cacul1 33
  • 89.3 (n)
oppossum
(Monodelphis domestica)
Mammalia CACUL1 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6H10ORF46 33 34
  • 84.65 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cacul1 33
  • 73.54 (n)
Str.1045 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.13083 33
zebrafish
(Danio rerio)
Actinopterygii LOC100538081 33
  • 68.64 (n)
CACUL1 34
  • 61 (a)
OneToOne
Species where no ortholog for CACUL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CACUL1 Gene

ENSEMBL:
Gene Tree for CACUL1 (if available)
TreeFam:
Gene Tree for CACUL1 (if available)

Paralogs for CACUL1 Gene

No data available for Paralogs for CACUL1 Gene

Variants for CACUL1 Gene

Sequence variations from dbSNP and Humsavar for CACUL1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000003107 -- 118,756,305(-) A/G upstream_transcript_variant
rs1000016455 -- 118,726,442(-) C/G intron_variant
rs1000099418 -- 118,745,122(-) T/A intron_variant
rs1000132132 -- 118,698,702(-) G/T intron_variant
rs1000132911 -- 118,682,281(-) T/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CACUL1 Gene

Variant ID Type Subtype PubMed ID
esv3579147 CNV loss 25503493
nsv1041093 CNV gain 25217958
nsv24391 CNV insertion 16902084
nsv832006 CNV gain 17160897
nsv951862 CNV duplication 24416366

Variation tolerance for CACUL1 Gene

Residual Variation Intolerance Score: 24.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CACUL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CACUL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CACUL1 Gene

Disorders for CACUL1 Gene

Additional Disease Information for CACUL1

No disorders were found for CACUL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CACUL1 Gene

Publications for CACUL1 Gene

  1. Identification and characterization of CAC1 as a novel CDK2-associated cullin. (PMID: 19829063) Kong Y … Yin Y (Cell cycle (Georgetown, Tex.) 2009) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for CACUL1 Gene

Sources for CACUL1 Gene

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