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CUL3 cullin 3 [ Homo sapiens (human) ]

Gene ID: 8452, updated on 24-Nov-2020

Summary

Official Symbol
CUL3provided by HGNC
Official Full Name
cullin 3provided by HGNC
Primary source
HGNC:HGNC:2553
See related
Ensembl:ENSG00000036257 MIM:603136
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
CUL-3; PHA2E
Summary
This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Expression
Broad expression in testis (RPKM 53.6), esophagus (RPKM 12.6) and 24 other tissues See more
Orthologs

Genomic context

See CUL3 in Genome Data Viewer
Location:
2q36.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (224470150..224585363, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (225334867..225450114, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene Neighboring gene family with sequence similarity 124 member B Neighboring gene ANKRD49 pseudogene 1 Neighboring gene uncharacterized LOC105373909 Neighboring gene uncharacterized LOC105373910

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?

Phenotypes

Associated conditions

Description Tests
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Pseudohypoaldosteronism type 2E Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2018-01-24)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2018-01-24)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25665

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Notch binding IPI
Inferred from Physical Interaction
more info
PubMed 
POZ domain binding IDA
Inferred from Direct Assay
more info
PubMed 
cyclin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating IMP
Inferred from Mutant Phenotype
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
anaphase-promoting complex-dependent catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
embryonic cleavage ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
PubMed 
fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
gastrulation IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
intrinsic apoptotic signaling pathway TAS
Traceable Author Statement
more info
PubMed 
liver morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mitotic metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of Rho protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
nuclear protein quality control by the ubiquitin-proteasome system IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
positive regulation of cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitotic cell cycle phase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitotic metaphase/anaphase transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein ubiquitination IGI
Inferred from Genetic Interaction
more info
PubMed 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein autoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein destabilization IGI
Inferred from Genetic Interaction
more info
PubMed 
protein monoubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
stem cell division ISS
Inferred from Sequence or Structural Similarity
more info
 
stress fiber assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
trophectodermal cellular morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cullin-RING ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
polar microtubule IDA
Inferred from Direct Assay
more info
PubMed 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 
spindle pole 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_032169.1 RefSeqGene

    Range
    5035..120248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257197.2NP_001244126.1  cullin-3 isoform 2

    See identical proteins and their annotated locations for NP_001244126.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, comapred to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB014517, AC073052, AK299644, BQ688156
    Consensus CDS
    CCDS58751.1
    UniProtKB/Swiss-Prot
    Q13618
    UniProtKB/TrEMBL
    B7Z600
    Related
    ENSP00000343601.4, ENST00000344951.8
    Conserved Domains (2) summary
    smart00884
    Location:629696
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:23599
    Cullin; Cullin family
  2. NM_001257198.2NP_001244127.1  cullin-3 isoform 3

    See identical proteins and their annotated locations for NP_001244127.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB014517, AC073052, AK308496
    UniProtKB/Swiss-Prot
    Q13618
    Related
    ENSP00000387200.1, ENST00000409096.5
    Conserved Domains (3) summary
    smart00182
    Location:427569
    CULLIN; Cullin
    pfam00888
    Location:41670
    Cullin; Cullin family
    pfam10557
    Location:706766
    Cullin_Nedd8; Cullin protein neddylation domain
  3. NM_003590.5NP_003581.1  cullin-3 isoform 1

    See identical proteins and their annotated locations for NP_003581.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB014517, AC073052, BQ688156
    Consensus CDS
    CCDS2462.1
    UniProtKB/Swiss-Prot
    Q13618
    UniProtKB/TrEMBL
    A0A024R475
    Related
    ENSP00000264414.4, ENST00000264414.9
    Conserved Domains (2) summary
    smart00884
    Location:695762
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:34665
    Cullin; Cullin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    224470150..224585363 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511994.3XP_011510296.1  cullin-3 isoform X2

    Conserved Domains (3) summary
    smart00182
    Location:372514
    CULLIN; Cullin
    pfam00888
    Location:24615
    Cullin; Cullin family
    pfam10557
    Location:651711
    Cullin_Nedd8; Cullin protein neddylation domain
  2. XM_006712800.2XP_006712863.2  cullin-3 isoform X1

    See identical proteins and their annotated locations for XP_006712863.2

    Related
    ENSP00000386525.1, ENST00000409777.5
    Conserved Domains (2) summary
    smart00884
    Location:684751
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:23654
    Cullin; Cullin family
  3. XM_011511995.1XP_011510297.1  cullin-3 isoform X3

    Conserved Domains (3) summary
    smart00182
    Location:407549
    CULLIN; Cullin
    pfam00888
    Location:21650
    Cullin; Cullin family
    pfam10557
    Location:686746
    Cullin_Nedd8; Cullin protein neddylation domain
  4. XM_011511996.2XP_011510298.1  cullin-3 isoform X4

    See identical proteins and their annotated locations for XP_011510298.1

    Conserved Domains (2) summary
    smart00884
    Location:631698
    Cullin_Nedd8; Cullin protein neddylation domain
    pfam00888
    Location:24601
    Cullin; Cullin family
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