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CUL7 cullin 7 [ Homo sapiens (human) ]

Gene ID: 9820, updated on 9-Dec-2018

Summary

Official Symbol
CUL7provided by HGNC
Official Full Name
cullin 7provided by HGNC
Primary source
HGNC:HGNC:21024
See related
Ensembl:ENSG00000044090 MIM:609577
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

Genomic context

See CUL7 in Genome Data Viewer
Location:
6p21.1
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (43037617..43053945, 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 uncharacterized LOC112267958

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 

NCBI Reference Sequences (RefSeq)

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, ENST00000265348.7
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    43037617..43053945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011539.2XP_016867028.1  cullin-7 isoform X11

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

  3. XM_017011537.2XP_016867026.1  cullin-7 isoform X9

  4. XM_006715285.2XP_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_017011536.2XP_016867025.1  cullin-7 isoform X7

  6. XM_017011533.1XP_016867022.1  cullin-7 isoform X1

  7. XM_005249503.3XP_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
  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

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