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CUL7 Gene

protein-coding   GIFtS: 64
GCID: GC06M043006

Cullin 7

(Previous name: KIAA0076)
(Previous symbol: KIAA0076)
  See CUL7-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)
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Aliases
Cullin 71 2
KIAA00761 2 3
CUL-72 3
cullin-72
dJ20C7.52

External Ids:    HGNC: 210241   Entrez Gene: 98202   Ensembl: ENSG000000440907   OMIM: 6095775   UniProtKB: Q149993   

Export aliases for CUL7 gene to outside databases

Previous GC identifers: GC06M043053 GC06M043113 GC06M042722


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CUL7 Gene:
The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein
interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2009)

GeneCards Summary for CUL7 Gene:
CUL7 (cullin 7) is a protein-coding gene. Diseases associated with CUL7 include 3-m syndrome, cul7-related, and 3-m syndrome. GO annotations related to this gene include ubiquitin protein ligase binding. An important paralog of this gene is CUL9.

UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999
Function: Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination
and subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins
involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote
polyubiquitination and proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or
TP53 contain E3 ubiquitin-protein ligase activity. In complex with FBXW8, mediates ubiquitination and consequent
degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis
and dendrite patterning in brain

Gene Wiki entry for CUL7 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CUL7 gene promoter:
         GR   E2F-4   E2F-3a   E2F-5   Sox5   RFX1   E2F-2   E2F   E2F-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCUL7 promoter sequence
   Search Chromatin IP Primers for CUL7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CUL7


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

Entrez Gene cytogenetic band: 6p21.1   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.1

CUL7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CUL7 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M043006:  view genomic region     (about GC identifiers)

Start:
43,005,355 bp from pter      End:
43,021,683 bp from pter
Size:
16,329 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999 (See protein sequence)
Recommended Name: Cullin-7  
Size: 1698 amino acids; 191161 Da
Subunit: Part of a SCF-like complex consisting of CUL7, RBX1, SKP1, FBXW8 and GLMN isoform 1. Interacts with a
complex of SKP1 and FBXW8, but not with SKP1 alone. Interacts with CUL9. Interacts with FBXW8; interaction is
mutually exclusive of binding to CUL9 or TP53. Interacts with TP53; the interaction preferentially involves
tetrameric and dimeric TP53. The CUL7-CUL9 heterodimer seems to interact specifically with TP53. Interacts with
CUL1; the interactions seems to be mediated by FBXW8 (By similarity). Interacts with SV40 Large T antigen; this
interaction seems to inhibit CUL7. Component of a SCF-like complex composed of SV40 Large T antigen, CUL7, SKP1,
RBX1, and FBXW8. Interacts with OBSL1
Sequence caution: Sequence=BAA07551.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for CUL7:
2JNG (3D)    
Secondary accessions: B4DYZ0 F5H0L1 Q5T654
Alternative splicing: 2 isoforms:  Q14999-1   Q14999-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CUL7: NX_Q14999

Explore proteomics data for CUL7 at MOPED

Post-translational modifications: 

  • According to a report, may not be neddylated despite the conserved consensus site for neddylation at Lys-1576
    (PubMed:17332328)1
  • Ubiquitination2 at Lys255, Lys1431
  • Modification sites at PhosphoSitePlus

  • See CUL7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161842.1  NP_055595.2  

    ENSEMBL proteins: 
     ENSP00000265348   ENSP00000438788  
    Reactome Protein details: Q14999

    CUL7 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CUL7

     
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    CUL7 Antibody Products:

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    CUL7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CUL7
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    Search eBioscience for ELISAs for CUL7 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR004939 APC_su10/DOC_dom
     IPR001373 Cullin_N
     IPR008979 Galactose-bd-like
     IPR016158 Cullin_homology
     IPR014722 Rib_L2_dom2

    Graphical View of Domain Structure for InterPro Entry Q14999

    ProtoNet protein and cluster: Q14999

    UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999
    Similarity: Belongs to the cullin family
    Similarity: Contains 1 DOC domain


    Find genes that share domains with CUL7           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CUL7_HUMAN, Q14999
    Function: Component of a probable SCF-like E3 ubiquitin-protein ligase complex, which mediates the ubiquitination
    and subsequent proteasomal degradation of target proteins. Probably plays a role in the degradation of proteins
    involved in endothelial proliferation and/or differentiation (By similarity). Seems not to promote
    polyubiquitination and proteasomal degradation of TP53. In vitro, complexes of CUL7 with either CUL9 or FBXW8 or
    TP53 contain E3 ubiquitin-protein ligase activity. In complex with FBXW8, mediates ubiquitination and consequent
    degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis
    and dendrite patterning in brain

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI17298945
    GO:0031625ubiquitin protein ligase binding IEA--
         
    Find genes that share ontologies with CUL7           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CUL7:
     Increased cell death HMECs cel  Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cul7):
     adipose tissue  cardiovascular system  cellular  embryogenesis  growth/size/body 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis  respiratory system  skeleton 

    Find genes that share phenotypes with CUL7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CUL7: Cul7tm1Jdec Cul7tm1Zqp

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CUL7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CUL7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CUL7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CUL7

    miRNA
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    miRTarBase miRNAs that target CUL7:
    hsa-mir-335-5p (MIRT017662)

    Block miRNA regulation of human, mouse, rat CUL7 using miScript Target Protectors
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CUL7

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    GenScript: all cDNA clones in your preferred vector (see all 2): CUL7 (NM_014780)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CUL7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CUL7
    Addgene plasmids for CUL7 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUL7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CUL7_HUMAN, Q14999: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Note=Colocalizes with FBXW8 at
    the Golgi apparatus in neurons; localization to Golgi is mediated by OBSL1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005680anaphase-promoting complex NAS12481031
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with CUL7           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CUL7 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30


    Find genes that share SuperPaths with CUL7           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Reactome Pathways for CUL7
        XBP1(S) activates chaperone genes
    Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for CUL7):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CUL7: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CUL7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CUL7 (Q149991, 2, 3 ENSP000002653484) via UniProtKB, MINT, STRING, and/or I2D (see all 132)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3, ENSP000002693054EBI-308606,EBI-366083 MINT-8415355 I2D: score=2 STRING: ENSP00000269305
    RBX1P628772, 3, ENSP000002162254MINT-8415355 I2D: score=5 STRING: ENSP00000216225
    SKP1P632082, 3, ENSP000002314874MINT-8415355 I2D: score=5 STRING: ENSP00000231487
    FBXW8Q8N3Y12, 3, ENSP000003106864MINT-8415355 I2D: score=4 STRING: ENSP00000310686
    ABL1P005192, 3, ENSP000003614234MINT-8110203 I2D: score=3 STRING: ENSP00000361423
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001570vasculogenesis ISS--
    GO:0006508proteolysis NAS12481031
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007030Golgi organization ISS--

    Find genes that share ontologies with CUL7           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CUL7



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CUL7 gene (2 alternative transcripts): 
    NM_001168370.1  NM_014780.4  

    Unigene Cluster for CUL7:

    Cullin 7
    Hs.520136  [show with all ESTs]
    Unigene Representative Sequence: NM_001168370
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265348(uc010jyg.3) ENST00000478630 ENST00000535468(uc003otq.3 uc011dvb.2)

    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CUL7
      QuantiTect SYBR Green Assays in human, mouse, rat CUL7
      QuantiFast Probe-based Assays in human, mouse, rat CUL7

    Additional mRNA sequence: 

    AK292806.1 AK302668.1 AK307936.1 AK309902.1 BC033647.1 D38548.1 

    19 DOTS entries:

    DT.86849052  DT.215672  DT.121375018  DT.102836932  DT.121375017  DT.95149131  DT.100780706  DT.97781150 
    DT.121374921  DT.75182058  DT.100780711  DT.100780707  DT.87014980  DT.92424011  DT.95149207  DT.99963120 
    DT.40275918  DT.75103749  DT.91663686 

    Selected AceView cDNA sequences (see all 178):

    BM354186 AW028816 BM551901 BQ918243 BU854824 BQ050054 BX479113 BU073341 
    BX102885 AI359671 BM476039 BM916914 CA454508 AI356267 CK820112 D38548 
    AI754198 BU856953 BQ225429 BM698845 BM707857 AA351340 BE560863 BU859377 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CUL7 (see all 22)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ·
    SP1:                          -                       -                                                                                                         
    SP2:                          -                       -                                                                                                         
    SP3:                                                  -                                                                                                         
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                  -                                                         

    ExUns: 29c · 29d ^ 30a · 30b
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for CUL7

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CUL7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCCTCACA
    CUL7 Expression
    About this image


    CUL7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Long Bone
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    CUL7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CUL7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520136

    UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999
    Tissue specificity: Highly expressed in fetal kidney and adult skeletal muscle. Also abundant in fetal brain, as
    well as in adult pancreas, kidney, placenta and heart. Detected in trophoblasts, lymphoblasts, osteoblasts,
    chondrocytes and skin fibroblasts

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CUL7: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CUL7 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cul71 , 5 cullin 71, 5 81.46(n)1
    78.52(a)1
      17 (22.90 cM)5
    665151  NM_025611.51  NP_079887.31 
     466503375 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    16(a)
    1 → many
    3(4356083-4375184)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    49(a)
    42(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(144228552-144239569)
    2(144210212-144221069)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01087282.26
    CABZ01087282.16
    Uncharacterized protein
    42(a)
    34(a)
    many ↔ many
    many ↔ many
    Zv9_NA395(33864-34631) ENSDARG00000090204
    Zv9_NA395(166-15589) ENSDARG00000073975


    ENSEMBL Gene Tree for CUL7 (if available)
    TreeFam Gene Tree for CUL7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CUL7 gene
    CUL92  ZZEF12  
    1 SIMAP similar gene for CUL7 using alignment to 2 protein entries:     CUL7_HUMAN (see all proteins):
    CUL9

    Find genes that share paralogs with CUL7           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CUL7 (see all 672)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0261244
    3M syndrome 1 (3M1)4--see VAR_0261242 H P mis40--------
    VAR_0261234
    3M syndrome 1 (3M1)4--see VAR_0261232 Q G mis40--------
    VAR_0261224
    3M syndrome 1 (3M1)4--see VAR_0261222 L R mis40--------
    rs1219182281,2
    Cpathogenic142917713(-) AGAGGC/TGACTG 4 R * stg10--------
    rs1481596921,2
    --42915935(+) CAAAAC/TAGAGA 2 -- ds50010--------
    rs117537501,2
    C,F,A,H--42916031(+) CAAACG/AAGGAG 2 -- ds500115Minor allele frequency- A:0.01NS EA NA 1532
    rs1843327611,2
    --42916048(+) ACCCTA/GCTCGA 2 -- ds50010--------
    rs755938801,2
    C,F--42916060(+) AATCTG/TCCCAA 2 -- ds50011Minor allele frequency- T:0.02NA 120
    rs344756021,2
    C--42916189(+) CTCAATC/-TCTCT 2 -- ds50012Minor allele frequency- -:0.17CSA 6
    rs2003333951,2
    C--42916196(-) TCTAGA/GCAGAG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CUL7 (43005355 - 43021683 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CUL7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv462930CNV Loss19166990
    nsv462927CNV Loss19166990

    Human Gene Mutation Database (HGMD): CUL7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CUL7
    DNA2.0 Custom Variant and Variant Library Synthesis for CUL7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609577   
    OMIM disorders: 273750  
    UniProtKB/Swiss-Prot: CUL7_HUMAN, Q14999
  • 3M syndrome 1 (3M1) [MIM:273750]: An autosomal recessive disorder characterized by severe pre- and
    postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine
    function. Skeletal changes include long slender tubular bones and tall vertebral bodies. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 3 diseases for CUL7:    
    About MalaCards
    3-m syndrome, cul7-related    3-m syndrome    dubowitz syndrome

    1 disease from the University of Copenhagen DISEASES database for CUL7:
    Dubowitz Syndrome

    Find genes that share disorders with CUL7           About GenesLikeMe

    GeneTests: CUL7
    GeneReviews: CUL7

    Export disorders for CUL7 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)
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    PubMed articles for CUL7 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with CUL7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CUL7: a DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex. (PubMed id 12481031)1, 2, 3, 9 Dias D.C.... Pan Z.Q. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis. (PubMed id 12904573)1, 2, 3 Arai T....DeCaprio J.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. Identification of mutations in CUL7 in 3-M syndrome. (PubMed id 16142236)1, 2, 9 Huber C.... Cormier-Daire V. (Nat. Genet. 2005)
    4. Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. (PubMed id 21737058)1, 2 Hanson D.... Black G.C. (Am. J. Hum. Genet. 2011)
    5. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. (PubMed id 21572988)1, 2 Litterman N.... Bonni A. (PLoS Biol. 2011)
    6. PARC and CUL7 form atypical cullin RING ligase complexes. (PubMed id 17332328)1, 2 Skaar J.R.... DeCaprio J.A. (Cancer Res. 2007)
    7. The conserved CPH domains of Cul7 and PARC are protein-protein interaction modules that bind the tetramerization domain of p53. (PubMed id 17298945)1, 2 Kaustov L....Arrowsmith C.H. (J. Biol. Chem. 2007)
    8. Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function. (PubMed id 16547496)1, 2 Andrews P.... Xiong Y. (Oncogene 2006)
    9. 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. (Genome Res. 2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9820 HGNC: 21024 AceView: CUL7 Ensembl:ENSG00000044090 euGenes: HUgn9820
    ECgene: CUL7 Kegg: 9820 H-InvDB: CUL7

    (According to HUGE)
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    HUGE: KIAA0076

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CUL7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CUL7[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CUL7 gene:
    Search GeneIP for patents involving CUL7

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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