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    CUL7 cullin 7 [ Homo sapiens (human) ]

    Gene ID: 9820, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CUL7provided by HGNC
    Official Full Name
    cullin 7provided by HGNC
    Primary source
    HGNC:HGNC:21024
    See related
    Ensembl:ENSG00000044090 MIM:609577; AllianceGenome:HGNC:21024
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    3M1; CUL-7; KIAA0076; dJ20C7.5
    Summary
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 10.5), thyroid (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CUL7 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43037617..43053851, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42866701..42882922, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43005355..43021589, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42988913-42989644 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42989645-42990376 Neighboring gene ribosomal RNA processing 36 Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene Neighboring gene uncharacterized LOC124901318 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43013559-43013750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018382-43018882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018883-43019383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43019933-43020768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17217 Neighboring gene mitochondrial ribosomal protein L2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43027385-43028336 Neighboring gene kinesin light chain 4 Neighboring gene Sharpr-MPRA regulatory region 10128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43038920-43039420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43043187-43043710 Neighboring gene KLC4 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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

    Bibliography

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    Related articles in PubMed

    1. High Expression of Cullin7 Correlates with Unfavorable Prognosis in Epithelial Ovarian Cancer Patients. Xi J, et al. Cancer Invest, 2016. PMID 26962950
    2. 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. Meazza C, et al. Ital J Pediatr, 2013 Mar 21. PMID 23517720, Free PMC Article
    3. Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. Hasegawa K, et al. J Pediatr Endocrinol Metab, 2016 Feb. PMID 26488604
    4. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Huber C, et al. Eur J Hum Genet, 2009 Mar. PMID 19225462, Free PMC Article
    5. Cullin7 is required for lung cancer cell proliferation and is overexpressed in lung cancer. Men X, et al. Oncol Res, 2015. PMID 25706399, Free PMC Article

    See all (124) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and verification of the prognostic value of CUL7 in colon adenocarcinoma.
      Title: Identification and verification of the prognostic value of CUL7 in colon adenocarcinoma.
    2. Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
      Title: Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
    3. Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.
      Title: Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing.
    4. A rare cause of syndromic short stature: 3M syndrome in three families.
      Title: A rare cause of syndromic short stature: 3M syndrome in three families.
    5. A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.
      Title: A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.
    6. Cullin-7 (CUL7) is overexpressed in glioma cells and promotes tumorigenesis via NF-kappaB activation.
      Title: Cullin-7 (CUL7) is overexpressed in glioma cells and promotes tumorigenesis via NF-κB activation.
    7. The mutational spectrum of CUL7, OBSL1, and investigation of genotype-phenotype correlation in 3M syndrome has been reported.
      Title: Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
    8. REVIEW: Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer
      Title: Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer.
    9. CUL7 prevents Caspase-8 activation by promoting Caspase-8 modification with non-degradative polyubiquitin chains at K215. CUL7 knockdown sensitized cancer cells to TRAIL-induced apoptosis in vitro and in nude mice.
      Title: CUL7 promotes cancer cell survival through promoting Caspase-8 ubiquitination.
    10. Mutation in Cul7 gene is associated with 3M syndrome.
      Title: Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (42)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    3M syndrome 1
    MedGen: C2678312 OMIM: 273750 GeneReviews: Three M Syndrome
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin ligase complex scaffold activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in Golgi organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in placenta development IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of dendrite morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in proteolysis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of 3M complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Cul7-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of anaphase-promoting complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cullin-7

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

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

    Genomic

    1. NG_016205.1 RefSeqGene

      Range
      5095..21329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168370.2 → NP_001161842.2  cullin-7 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      Consensus CDS
      CCDS55003.2
      UniProtKB/TrEMBL
      A0A669KBH4, A8K9U1
      Related
      ENSP00000501068.1, ENST00000674134.1
      Conserved Domains (4) summary
      cd08665
      Location:870 → 1000
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:1249 → 1537
      Cullin; Cullin family
      pfam11515
      Location:394 → 466
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:1593 → 1671
      Cullin_Nedd8; Cullin protein neddylation domain

    2. NM_001374872.1 → NP_001361801.1  cullin-7 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      Consensus CDS
      CCDS55003.2
      UniProtKB/TrEMBL
      A0A669KBH4, A8K9U1
      Related
      ENSP00000501292.1, ENST00000674100.1
      Conserved Domains (4) summary
      cd08665
      Location:870 → 1000
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:1249 → 1537
      Cullin; Cullin family
      pfam11515
      Location:394 → 466
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:1593 → 1671
      Cullin_Nedd8; Cullin protein neddylation domain

    3. NM_001374873.1 → NP_001361802.1  cullin-7 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      UniProtKB/TrEMBL
      A8K9U1
      Conserved Domains (4) summary
      cd08665
      Location:838 → 968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:1217 → 1505
      Cullin; Cullin family
      pfam11515
      Location:362 → 434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:1565 → 1643
      Cullin_Nedd8; Cullin protein neddylation domain

    4. NM_001374874.1 → NP_001361803.1  cullin-7 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      UniProtKB/TrEMBL
      A8K9U1
      Conserved Domains (4) summary
      cd08665
      Location:838 → 968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:1216 → 1504
      Cullin; Cullin family
      pfam11515
      Location:362 → 434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:1560 → 1638
      Cullin_Nedd8; Cullin protein neddylation domain

    5. NM_014780.5 → NP_055595.2  cullin-7 isoform 2

      See identical proteins and their annotated locations for NP_055595.2

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      Consensus CDS
      CCDS4881.1
      UniProtKB/Swiss-Prot
      B4DYZ0, F5H0L1, Q14999, Q5T654
      UniProtKB/TrEMBL
      A8K9U1
      Related
      ENSP00000265348.4, ENST00000265348.9
      Conserved Domains (4) summary
      cd08665
      Location:838 → 968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:1387 → 1458
      CULLIN; Cullin
      pfam11515
      Location:362 → 434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:1561 → 1639
      Cullin_Nedd8; Cullin protein neddylation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43037617..43053851 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249503.4 → XP_005249560.2  cullin-7 isoform X7

      UniProtKB/Swiss-Prot
      B4DYZ0, F5H0L1, Q14999, Q5T654
      Related
      ENSP00000508461.1, ENST00000690231.1

    2. XM_011515020.3 → XP_011513322.2  cullin-7 isoform X6

    3. XM_047419600.1 → XP_047275556.1  cullin-7 isoform X5

    4. XM_017011535.2 → XP_016867024.2  cullin-7 isoform X4

    5. XM_011515019.3 → XP_011513321.2  cullin-7 isoform X3

    6. XM_017011534.2 → XP_016867023.2  cullin-7 isoform X2

    7. XM_017011533.2 → XP_016867022.2  cullin-7 isoform X1

    8. XM_047419601.1 → XP_047275557.1  cullin-7 isoform X9

      Related
      ENST00000478630.2

    9. XM_011515021.2 → XP_011513323.1  cullin-7 isoform X8

      Conserved Domains (3) summary
      cd08665
      Location:125 → 255
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:674 → 745
      CULLIN; Cullin
      cl11186
      Location:852 → 930
      Cullin_Nedd8; Cullin protein neddylation domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42866701..42882922 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356901.1 → XP_054212876.1  cullin-7 isoform X7

    2. XM_054356900.1 → XP_054212875.1  cullin-7 isoform X6

    3. XM_054356899.1 → XP_054212874.1  cullin-7 isoform X5

    4. XM_054356898.1 → XP_054212873.1  cullin-7 isoform X4

    5. XM_054356897.1 → XP_054212872.1  cullin-7 isoform X3

    6. XM_054356896.1 → XP_054212871.1  cullin-7 isoform X2

    7. XM_054356895.1 → XP_054212870.1  cullin-7 isoform X1

    8. XM_054356903.1 → XP_054212878.1  cullin-7 isoform X9

    9. XM_054356902.1 → XP_054212877.1  cullin-7 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14999.2 GenPept UniProtKB/Swiss-Prot:Q14999

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