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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CACUL1 Gene

protein-coding   GIFtS: 41
GCID: GC10M120433

CDK2-Associated, Cullin Domain 1

(Previous name: chromosome 10 open reading frame 46)
(Previous symbol: C10orf46)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CDK2-Associated, Cullin Domain 11 2     Chromosome 10 Open Reading Frame 461
C10orf461 2 3     CDK2-Associated And Cullin Domain-Containing Protein 12
Cdk-Associated Cullin11 2 3     cullin2
CAC12 3     

External Ids:    HGNC: 237271   Entrez Gene: 1433842   Ensembl: ENSG000001518937   UniProtKB: Q86Y373   

Export aliases for CACUL1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CACUL1 Gene: 
CACUL1 (CDK2-associated, cullin domain 1) is a protein-coding gene. Diseases associated with CACUL1 include oral squamous cell carcinoma, and cytochrome p450. GO annotations related to this gene include protein kinase binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: CACL1_HUMAN, Q86Y37
Function: Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at
the G1/S phase transition




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CACUL1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCACUL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CACUL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CACUL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.11   Ensembl cytogenetic band:  10q26.11   HGNC cytogenetic band: 10q26.13

CACUL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CACUL1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M120433:  view genomic region     (about GC identifiers)

Start:
120,433,679 bp from pter      End:
120,514,761 bp from pter
Size:
81,083 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CACL1_HUMAN, Q86Y37 (See protein sequence)
Recommended Name: CDK2-associated and cullin domain-containing protein 1  
Size: 369 amino acids; 41064 Da
Subunit: Interacts with CDK2
Sequence caution: Sequence=AAU89709.1; Type=Frameshift; Positions=296;
Secondary accessions: Q5XPL7 Q8IY11 Q8N7S4
Alternative splicing: 3 isoforms:  Q86Y37-1   Q86Y37-2   Q86Y37-4   

Explore the universe of human proteins at neXtProt for CACUL1: NX_Q86Y37

Explore proteomics data for CACUL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86Y37

  • CACUL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CACUL1 Protein Expression
    REFSEQ proteins: NP_722517.3  
    ENSEMBL proteins: 
     ENSP00000358147   ENSP00000431329   ENSP00000342487  

    Human Recombinant Protein Products for CACUL1: 
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    Novus Biologicals CACUL1 Proteins
    Novus Biologicals CACUL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031461cullin-RING ubiquitin ligase complex IEA--

    CACUL1 for ontologies           About GeneDecksing



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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR016159 Cullin_repeat-like_dom
     IPR001373 Cullin_N

    Graphical View of Domain Structure for InterPro Entry Q86Y37

    ProtoNet protein and cluster: Q86Y37

    UniProtKB/Swiss-Prot: CACL1_HUMAN, Q86Y37
    Similarity: Belongs to the cullin family


    CACUL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CACL1_HUMAN, Q86Y37
    Function: Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at
    the G1/S phase transition

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019901protein kinase binding IPI19829063
    GO:0031625ubiquitin protein ligase binding IEA--
         
    CACUL1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CACUL1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CACUL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CACUL1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CACUL1 

    miRNA
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    Inhib. RNA
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    Clone
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    OriGene ORF clones in mouse, rat for CACUL1
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    Sirion Biotech Customized lentivirus for stable overexpression of CACUL1 
                         Customized lentivirus expression plasmids for stable overexpression of CACUL1 

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    Search LifeMap BioReagents cell lines for CACUL1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACUL1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CACUL1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for CACUL1 (Q86Y372 ENSP000003581474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR1P033722MINT-8401500 MINT-8401185 MINT-8401518 MINT-8401256 MINT-8401279
    KDM1AO603412MINT-8401306
    SUMO2ENSP000004059654STRING: ENSP00000405965
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000082G1/S transition of mitotic cell cycle IMP19829063
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0008284positive regulation of cell proliferation IMP19829063
    GO:0045860positive regulation of protein kinase activity IMP19829063

    CACUL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CACUL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CACUL1 (CACL1)

    2 Novoseek inferred chemical compound relationships for CACUL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 11.2 3 16636053 (2), 18562529 (1)
    cysteine 6.08 1 19602541 (1)

    Search CenterWatch for drugs/clinical trials and news about CACUL1 / CACL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CACUL1 gene: 
    NM_153810.4  

    Unigene Cluster for CACUL1:

    CDK2-associated, cullin domain 1
    Hs.420024  [show with all ESTs]
    Unigene Representative Sequence: NM_153810
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544392 ENST00000369151(uc001lds.1) ENST00000493518(uc010qst.1)
    ENST00000490610 ENST00000489169 ENST00000481360 ENST00000477583 ENST00000340214

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for CACUL1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CACUL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CACUL1

    Additional mRNA sequence: 

    AJ544771.1 AK026985.1 AK057742.1 AK131008.1 AK301182.1 AY743663.1 

    12 DOTS entries:

    DT.115696  DT.80100935  DT.100776827  DT.91709045  DT.100751365  DT.100776831  DT.100776832  DT.121212390 
    DT.40110811  DT.75172355  DT.95370475  DT.91740587 

    24/344 AceView cDNA sequences (see all 344):

    AA397969 NM_153810 BF447218 BM021064 BG568782 AA953829 AA569396 H19821 
    AI968769 AA281799 W15541 N75940 BU619567 CA503189 BU623515 AI222487 
    BU623607 AA010348 AA830160 AA913472 AA044814 AI004465 AA281914 BQ049552 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CACUL1    About this scheme

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


    ECgene alternative splicing isoforms for CACUL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CACUL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CACUL1 Expression
    About this image


    See CACUL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CACUL1

    SOURCE GeneReport for Unigene cluster: Hs.420024

    UniProtKB/Swiss-Prot: CACL1_HUMAN, Q86Y37
    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CACUL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CACUL1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cacul11 , 5 RIKEN cDNA 2700078E11 gene5
    CDK2 associated, cullin domain 11
    90.24(n)1
    94.58(a)1
      19 (56.52 cM)5
    788321  NM_030197.21  NP_084473.11 
     605246965 
    chicken
    (Gallus gallus)
    Aves C6H10orf461 chromosome 6 open reading frame, human C10orf46 85.67(n)
    85.67(a)
      423926  NM_001031238.1  NP_001026409.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    84(a)
    71(a)
    many → 1
    many → 1
    1(249380156-249380597)
    GL343399.1(60743-109865)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.130832 Xenopus laevis transcribed sequences 77.28(n)    BJ093987.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005380811 uncharacterized protein C10orf46 homolog 67.5(n)
    65.56(a)
      100538081  XM_003199759.1  XP_003199807.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1440 SNPs in CACUL1 are shown (see all 1440)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs734239121,2
    C,F--120440163(+) AAGGTC/TCACAG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1436571631,2
    C--120440180(+) CTGTAC/GAGTGT 1 -- int10--------
    rs1450114261,2
    --120440219(+) ATATCC/TGTATC 1 -- int10--------
    rs1890213891,2
    --120440220(+) TATCCA/GTATCC 1 -- int10--------
    rs1925001471,2
    --120440332(+) GCTAAA/GTAACT 1 -- int10--------
    rs1490923411,2
    C--120440351(+) AGATGG/TGTGCT 1 -- int10--------
    rs1841946511,2
    --120440459(+) CAAGGA/CCATCT 1 -- int10--------
    rs744399581,2
    F--120440499(+) GCCAAC/TGACAT 1 -- ut311Minor allele frequency- T:0.01WA 118
    rs1431250651,2
    --120440590(+) CACCAA/TAAGAT 1 -- ut310--------
    rs1512332841,2
    --120440646(+) TCATCC/TGCCAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CACUL1 (120433679 - 120514761 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CACUL1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CACUL1
    DNA2.0 Custom Variant and Variant Library Synthesis for CACUL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    7 diseases for CACUL1:    About MalaCards
    oral squamous cell carcinoma    cytochrome p450    renal cell carcinoma    squamous cell carcinoma
    hypoxia    alzheimer's disease    breast cancer


    CACUL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CACUL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 11673459 (1)


    Export disorders for CACUL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CACUL1 gene, integrated from 9 sources (see all 153):
    (articles sorted by number of sources associating them with CACUL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of CAC1 as a nove l CDK2-associated cullin. (PubMed id 19829063)1, 2, 3, 9 Kong Y....Yin Y. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. CDK-associated Cullin 1 can promote cell proliferation and inhibit cisplatin-induced apoptosis in the AGS gastric cancer cell line. (PubMed id 23311997)1 Zheng Q....Liao Z.J. (2013)
    6. Negative regulation of ERa by a novel protein CAC1 thr ough association with histone demethylase LSD1. (PubMed id 23178685)1 Kim J....Kim E.J. (2013)
    7. CAC1 negatively regulates RARa activity through cooper ation with HDAC. (PubMed id 22982681)1 Moon M....Kim E.J. (2012)
    8. The deoxycholic acid targets miRNA-dependent CAC1 gene expression in multidrug resistance of human colorectal cancer. (PubMed id 22903020)1 Kong Y....Qi X.G. (2012)
    9. Expression of the newly identified gene CAC1 in the hi ppocampus of Alzheimer's disease patients. (PubMed id 22415352)1 Kong Y....Nan K.J. (2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 143384 HGNC: 23727 AceView: C10orf46 Ensembl:ENSG00000151893 euGenes: HUgn143384
    ECgene: CACUL1 H-InvDB: CACUL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CACUL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CACUL1 gene:
    Search GeneIP for patents involving CACUL1

    GeneCards and IP:
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