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    CUL7 cullin 7 [ Homo sapiens (human) ]

    Gene ID: 9820, updated on 8-Oct-2017
    Official Symbol
    CUL7provided by HGNC
    Official Full Name
    cullin 7provided by HGNC
    Primary source
    HGNC:HGNC:21024
    See related
    Ensembl:ENSG00000044090 MIM:609577; Vega:OTTHUMG00000014718
    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]
    Orthologs
    Location:
    6p21.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (43037617..43053950, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43005355..43021683, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal RNA processing 36 Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene Neighboring gene mitochondrial ribosomal protein L2 Neighboring gene kinesin light chain 4 Neighboring gene protein tyrosine kinase 7 (inactive)

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
      Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
    • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
      Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
    • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
      IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
      Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
    • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
      XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Golgi organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    IRE1-mediated unfolded protein response TAS
    Traceable Author Statement
    more info
     
    epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    placenta development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of dendrite morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of dendrite morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    protein ubiquitination TAS
    Traceable Author Statement
    more info
    PubMed 
    proteolysis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of mitotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    vasculogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    3M complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Cul7-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    anaphase-promoting complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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
      5001..21329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK302668, AL136304, BC033647, DA496861
      Consensus CDS
      CCDS55003.1
      UniProtKB/Swiss-Prot
      Q14999
      Related
      ENSP00000438788.1, ENST00000535468.1
      Conserved Domains (4) summary
      cd08665
      Location:9221052
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:14711542
      CULLIN; Cullin
      pfam11515
      Location:446518
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:16451723
      Cullin_Nedd8; Cullin protein neddylation domain
    2. NM_014780.4NP_055595.2  cullin-7 isoform 2

      See identical proteins and their annotated locations for NP_055595.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses alternate splice junctions at the 3' end of two different exons compared to variant 1. One alternate splice junction causes a frameshift compared to variant 1 while the other does not. The resulting isoform (2) has a longer N-terminus and contains an alternate segment compared to isoform 1.
      Source sequence(s)
      AL136304, BC033647, DA496861
      Consensus CDS
      CCDS4881.1
      UniProtKB/Swiss-Prot
      Q14999
      Related
      ENSP00000265348.3, OTTHUMP00000016418, ENST00000265348.7, OTTHUMT00000040575
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      43037617..43053950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011539.1XP_016867028.1  cullin-7 isoform X11

    2. XM_017011538.1XP_016867027.1  cullin-7 isoform X10

    3. XM_017011537.1XP_016867026.1  cullin-7 isoform X9

    4. XM_006715285.1XP_006715348.1  cullin-7 isoform X8

      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
      smart00182
      Location:14191490
      CULLIN; Cullin
      pfam11515
      Location:394466
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:15971675
      Cullin_Nedd8; Cullin protein neddylation domain
    5. XM_017011536.1XP_016867025.1  cullin-7 isoform X7

    6. XM_005249503.2XP_005249560.1  cullin-7 isoform X6

      Conserved Domains (4) summary
      cd08665
      Location:8901020
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:14391510
      CULLIN; Cullin
      pfam11515
      Location:414486
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:16131691
      Cullin_Nedd8; Cullin protein neddylation domain
    7. XM_017011533.1XP_016867022.1  cullin-7 isoform X1

    8. XM_017011535.1XP_016867024.1  cullin-7 isoform X4

    9. XM_011515019.2XP_011513321.1  cullin-7 isoform X3

      Conserved Domains (4) summary
      cd08665
      Location:9221052
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:14711542
      CULLIN; Cullin
      pfam11515
      Location:446518
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:16491727
      Cullin_Nedd8; Cullin protein neddylation domain
    10. XM_017011534.1XP_016867023.1  cullin-7 isoform X2

    11. XM_011515020.2XP_011513322.1  cullin-7 isoform X5

      Conserved Domains (4) summary
      cd08665
      Location:8901020
      APC10-CUL7; APC10-like DOC1 domain of CUL7, subunit of the SCF-ROC1-like E3 ubiquitin ligase complex that mediates substrate ubiquitination
      smart00182
      Location:14391510
      CULLIN; Cullin
      pfam11515
      Location:414486
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      cl11186
      Location:16171695
      Cullin_Nedd8; Cullin protein neddylation domain
    12. XM_011515021.1XP_011513323.1  cullin-7 isoform X12

      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
    13. XM_017011540.1XP_016867029.1  cullin-7 isoform X13

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      43007804..43024128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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