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

CUL7 Gene

protein-coding   GIFtS: 63
GCID: GC06M043006

Cullin 7

(Previous name: KIAA0076)
(Previous symbol: KIAA0076)
  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 skin tag, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Activation of Chaperones by IRE1alpha. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CUL7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm. Cytoplasm, perinuclear region. Golgi apparatus. Note=Co-localizes with FBXW8 at
the Golgi apparatus in neurons; localization to Golgi is mediated by 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:

  • UniProtKB: According to a report, may not be neddylated despite the conserved consensus site for neddylation at Lys-1576
    (PubMed:17332328)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14999

  • CUL7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CUL7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161842.1  NP_055595.2  

    ENSEMBL proteins: 
     ENSP00000265348   ENSP00000438788  
    Reactome Protein details: Q14999
    Human Recombinant Protein Products for CUL7: 
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    Novus Biologicals CUL7 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CUL7 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (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--

    CUL7 for ontologies           About GeneDecksing



    CUL7 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CUL7
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    Abcam antibodies for CUL7
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    ThermoFisher Antibody for CUL7
    LSBio Antibodies in human, mouse, rat for CUL7 

    Assay Products for CUL7: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CUL7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CUL7 
    Cloud-Clone Corp. CLIAs for CUL7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     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


    CUL7 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI17298945
    GO:0031625ubiquitin protein ligase binding IEA--
         
    CUL7 for ontologies           About GeneDecksing


    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 
     homeostasis/metabolism  mortality/aging  no phenotypic analysis  respiratory system  skeleton 

    CUL7 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CUL7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    Inhib. RNA
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CUL7

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CUL7 (NM_014780)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CUL7

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CUL7


    (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

    SuperPaths for CUL7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for CUL7 (see all 8)
        Adaptive Immune System
    Activation of Chaperone Genes by XBP1(S)
    Antigen processing: Ubiquitination & Proteasome degradation
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha


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

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


    CUL7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CUL7

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

    5/98 Interacting proteins for CUL7 (Q149991, 2, 3 ENSP000002653484) via UniProtKB, MINT, STRING, and/or I2D (see all 98)

    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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--

    CUL7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CUL7

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CUL7
      QIAGEN 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 

    24/178 AceView cDNA sequences (see all 178):

    BC033647 BQ918243 BE560863 BM662682 BM698845 BP351752 AL042914 BU624413 
    AA479771 BM476039 AU131657 BU859377 CA454508 BQ670215 BM707857 AA351340 
    BM916914 AI356267 BQ050054 BU856953 BQ225429 BX479113 BQ949424 BM551901 

    GeneLoc Exon Structure

    5/22 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™, 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

    CUL7 expression in normal human tissues (normalized intensities)      CUL7 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Zeugopod Long Bone
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Meckel's Cartilage
             skeleton/cranium/chondrocranium   
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             skeleton/cranium/chondrocranium   
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   
     
     Mesoderm (Gastrulation Derivatives)
             skeleton/axial skeleton   

    See CUL7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CUL7

    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

        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CUL7 gene from 4/11 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 81.58(n)1
    78.82(a)1
      17 (22.90 cM)5
    665151  NM_025611.51  NP_079887.31 
     466503375 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    17(a)
    1 → many
    3(4356083-4375184)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    49(a)
    35(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(144228552-144239569)
    2(144210212-144221069)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01087282.16
    CUL96
    Uncharacterized protein
    38(a)
    35(a)
    many ↔ many
    many ↔ many
    Zv9_NA395(33864-34631)
    Zv9_NA395(166-15589)


    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)
    About This Section
    Paralogs for CUL7 gene
    CUL92  ZZEF12  
    1 SIMAP similar gene for CUL7 using alignment to 2 protein entries:     CUL7_HUMAN (see all proteins):
    CUL9

    CUL7 for paralogs           About GeneDecksing



    (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

    10/672 SNPs in CUL7 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 13 diseases for CUL7:    About MalaCards
    3-m syndrome, cul7-related    skin tag    3-m syndrome    dubowitz syndrome
    hydrocele    mulibrey nanism    growth disorders    short stature
    fanconi's anemia    choriocarcinoma    anemia    glioblastoma
    endotheliitis

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

    CUL7 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CUL7 gene, integrated from 9 sources (see all 62):
    (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. (2002)
    2. Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis. (PubMed id 12904573)1, 2, 3 Arai T....DeCaprio J.A. (2003)
    3. Identification of mutations in CUL7 in 3-M syndrome. (PubMed id 16142236)1, 2, 9 Huber C.... Cormier-Daire V. (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. (2011)
    5. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechani sm regulates Golgi morphology and dendrite patterning. (PubMed id 21572988)1, 2 Litterman N....Bonni A. (2011)
    6. PARC and CUL7 form atypical cullin RING ligase complexes. (PubMed id 17332328)1, 2 Skaar J.R.... DeCaprio J.A. (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. (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. (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. (2004)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9820 HGNC: 21024 AceView: CUL7 Ensembl:ENSG00000044090 euGenes: HUgn9820
    ECgene: CUL7 Kegg: 9820 H-InvDB: CUL7

    (According to HUGE)
    About This Section
    HUGE: KIAA0076

    (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 CUL7 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CUL7

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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