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CUL7 cullin 7 [ Homo sapiens (human) ]

Gene ID: 9820, updated on 11-Jul-2021

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
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Genomic context

See CUL7 in Genome Data Viewer
Location:
6p21.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (43037617..43053945, complement)
105.20201022 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 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 Sharpr-MPRA regulatory region 10128

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

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 
part_of cullin-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
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)

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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
    5001..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
    CCDS55003.1
    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
    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
    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
    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
    Q14999
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

  2. 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
  3. XM_017011536.2XP_016867025.1  cullin-7 isoform X7

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

  5. 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
  6. XM_017011535.1XP_016867024.1  cullin-7 isoform X4

  7. 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
  8. XM_017011534.1XP_016867023.1  cullin-7 isoform X2

  9. 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
  10. 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
  11. XM_017011540.1XP_016867029.1  cullin-7 isoform X13

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