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CUL7 cullin 7 [ Homo sapiens (human) ]

Gene ID: 9820, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43037617..43053851, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42866701..42882922, complement)
105.20220307 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
  • 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. Identification and verification of the prognostic value of CUL7 in colon adenocarcinoma. Wang C, et al. Front Immunol, 2022. PMID 36304472, Free PMC Article
  2. A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon. Guo L, et al. Clin Chim Acta, 2020 Aug. PMID 32278698
  3. Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing. Hu L, et al. J Clin Lab Anal, 2020 Jul. PMID 32141654, Free PMC Article
  4. Cullin-RING E3 Ubiquitin Ligase 7 in Growth Control and Cancer. Pan ZQ. Adv Exp Med Biol, 2020. PMID 31898234, Free PMC Article
  5. Novel mutation in Cul7 gene in a family diagnosed with 3M syndrome. Shaikh S, et al. J Genet, 2019 Mar. PMID 30945686

See all (119) 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)

Genotypes

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 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_2023_10

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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