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    CUL7 cullin 7 [ Homo sapiens (human) ]

    Gene ID: 9820, updated on 9-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001168370.2NP_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:8701000
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:12491537
      Cullin; Cullin family
      pfam11515
      Location:394466
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15931671
      Cullin_Nedd8; Cullin protein neddylation domain
    2. NM_001374872.1NP_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:8701000
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:12491537
      Cullin; Cullin family
      pfam11515
      Location:394466
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15931671
      Cullin_Nedd8; Cullin protein neddylation domain
    3. NM_001374873.1NP_001361802.1  cullin-7 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      UniProtKB/TrEMBL
      A8K9U1
      Conserved Domains (4) summary
      cd08665
      Location:838968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:12171505
      Cullin; Cullin family
      pfam11515
      Location:362434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15651643
      Cullin_Nedd8; Cullin protein neddylation domain
    4. NM_001374874.1NP_001361803.1  cullin-7 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136304, AL355385
      UniProtKB/TrEMBL
      A8K9U1
      Conserved Domains (4) summary
      cd08665
      Location:838968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      pfam00888
      Location:12161504
      Cullin; Cullin family
      pfam11515
      Location:362434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15601638
      Cullin_Nedd8; Cullin protein neddylation domain
    5. NM_014780.5NP_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:838968
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:13871458
      CULLIN; Cullin
      pfam11515
      Location:362434
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15611639
      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_005249503.4XP_005249560.2  cullin-7 isoform X7

      UniProtKB/Swiss-Prot
      B4DYZ0, F5H0L1, Q14999, Q5T654
      UniProtKB/TrEMBL
      A8K9U1
      Related
      ENSP00000508461.1, ENST00000690231.1
    2. XM_011515020.3XP_011513322.2  cullin-7 isoform X6

      UniProtKB/TrEMBL
      A8K9U1
    3. XM_047419600.1XP_047275556.1  cullin-7 isoform X5

      UniProtKB/TrEMBL
      A8K9U1
    4. XM_017011535.2XP_016867024.2  cullin-7 isoform X4

      UniProtKB/TrEMBL
      A8K9U1
    5. XM_011515019.3XP_011513321.2  cullin-7 isoform X3

      UniProtKB/TrEMBL
      A8K9U1
    6. XM_017011534.2XP_016867023.2  cullin-7 isoform X2

      UniProtKB/TrEMBL
      A8K9U1
    7. XM_017011533.2XP_016867022.2  cullin-7 isoform X1

      UniProtKB/TrEMBL
      A8K9U1
    8. XM_047419601.1XP_047275557.1  cullin-7 isoform X9

      Related
      ENST00000478630.2
    9. XM_011515021.2XP_011513323.1  cullin-7 isoform X8

      Conserved Domains (3) summary
      cd08665
      Location:125255
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:674745
      CULLIN; Cullin
      cl11186
      Location:852930
      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_054356901.1XP_054212876.1  cullin-7 isoform X7

      UniProtKB/TrEMBL
      A8K9U1
    2. XM_054356900.1XP_054212875.1  cullin-7 isoform X6

      UniProtKB/TrEMBL
      A8K9U1
    3. XM_054356899.1XP_054212874.1  cullin-7 isoform X5

      UniProtKB/TrEMBL
      A8K9U1
    4. XM_054356898.1XP_054212873.1  cullin-7 isoform X4

      UniProtKB/TrEMBL
      A8K9U1
    5. XM_054356897.1XP_054212872.1  cullin-7 isoform X3

      UniProtKB/TrEMBL
      A8K9U1
    6. XM_054356896.1XP_054212871.1  cullin-7 isoform X2

      UniProtKB/TrEMBL
      A8K9U1
    7. XM_054356895.1XP_054212870.1  cullin-7 isoform X1

      UniProtKB/TrEMBL
      A8K9U1
    8. XM_054356903.1XP_054212878.1  cullin-7 isoform X9

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