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    CUL3 cullin 3 [ Homo sapiens (human) ]

    Gene ID: 8452, updated on 5-Jan-2025

    Summary

    Official Symbol
    CUL3provided by HGNC
    Official Full Name
    cullin 3provided by HGNC
    Primary source
    HGNC:HGNC:2553
    See related
    Ensembl:ENSG00000036257 MIM:603136; AllianceGenome:HGNC:2553
    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; NEDAUS
    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
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    Genomic context

    See CUL3 in Genome Data Viewer
    Location:
    2q36.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (224470150..224585363, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224952401..225067578, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (225334867..225450080, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124907992 Neighboring gene Sharpr-MPRA regulatory region 15583 Neighboring gene family with sequence similarity 124 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225297524-225298143 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:225298144-225298762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12380 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:225349417-225350616 Neighboring gene ANKRD49 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12381 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12382 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12383 Neighboring gene uncharacterized LOC105373909 Neighboring gene uncharacterized LOC105373910 Neighboring gene coiled-coil domain containing 195

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (567 hits/1357 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ25665

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding PubMed 
    enables POZ domain binding PubMed 
    enables cyclin binding  
    enables identical protein binding  
    enables protein binding PubMed 
    enables ubiquitin ligase complex scaffold activity PubMed 
    enables ubiquitin protein ligase activity PubMed 
    enables ubiquitin protein ligase binding  
    enables ubiquitin protein ligase binding PubMed 
    contributes_to ubiquitin-protein transferase activity PubMed 
    Items 1 - 25 of 45
    Process Evidence Code Pubs
    involved_in COPII vesicle coating PubMed 
    involved_in G1/S transition of mitotic cell cycle PubMed 
    involved_in Wnt signaling pathway  
    acts_upstream_of_or_within anaphase-promoting complex-dependent catabolic process PubMed 
    involved_in cell migration PubMed 
    involved_in cell projection organization  
    involved_in cellular response to amino acid stimulus PubMed 
    involved_in cellular response to oxidative stress PubMed 
    involved_in embryonic cleavage  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport PubMed 
    involved_in fibroblast apoptotic process  
    involved_in gastrulation  
    involved_in gene expression  
    involved_in inflammatory response  
    involved_in integrin-mediated signaling pathway  
    involved_in intrinsic apoptotic signaling pathway PubMed 
    involved_in kidney development  
    involved_in liver morphogenesis  
    involved_in mitotic metaphase chromosome alignment PubMed 
    involved_in negative regulation of Rho protein signal transduction PubMed 
    involved_in negative regulation of transcription by RNA polymerase II  
    involved_in negative regulation of type I interferon production PubMed 
    involved_in nuclear protein quality control by the ubiquitin-proteasome system PubMed 
    involved_in positive regulation of TORC1 signaling PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cytokinesis PubMed 
    involved_in positive regulation of mitotic cell cycle phase transition PubMed 
    involved_in positive regulation of mitotic metaphase/anaphase transition PubMed 
    involved_in positive regulation of protein ubiquitination PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process PubMed 
    involved_in protein K48-linked ubiquitination PubMed 
    involved_in protein autoubiquitination PubMed 
    involved_in protein destabilization PubMed 
    involved_in protein monoubiquitination PubMed 
    involved_in protein polyubiquitination PubMed 
    involved_in protein ubiquitination  
    involved_in protein ubiquitination PubMed 
    involved_in regulation of cellular response to insulin stimulus PubMed 
    involved_in regulation protein catabolic process at postsynapse  
    involved_in stem cell division  
    involved_in stress fiber assembly PubMed 
    involved_in trophectodermal cellular morphogenesis  
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process PubMed 
    involved_in ubiquitin-dependent protein catabolic process PubMed 
    Items 1 - 25 of 45
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex  
    part_of Cul3-RING ubiquitin ligase complex PubMed 
    located_in Golgi apparatus  
    located_in centrosome PubMed 
    is_active_in cytoplasm PubMed 
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in extracellular exosome PubMed 
    located_in glutamatergic synapse  
    located_in membrane PubMed 
    located_in mitotic spindle PubMed 
    located_in nucleoplasm  
    located_in nucleus PubMed 
    located_in plasma membrane PubMed 
    located_in polar microtubule PubMed 
    located_in postsynapse  
    located_in sperm flagellum PubMed 
    located_in spindle pole 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_032169.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001257197.2 → NP_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
      pfam00888
      Location:32 → 599
      Cullin; Cullin family
      pfam10557
      Location:632 → 693
      Cullin_Nedd8; Cullin protein neddylation domain
    2. NM_001257198.2 → NP_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:427 → 569
      CULLIN; Cullin
      pfam00888
      Location:41 → 670
      Cullin; Cullin family
      pfam10557
      Location:706 → 766
      Cullin_Nedd8; Cullin protein neddylation domain
    3. NM_003590.5 → NP_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
      A8K536, B8ZZC3, O75415, Q13618, Q569L3, Q9UBI8, Q9UET7
      Related
      ENSP00000264414.4, ENST00000264414.9
      Conserved Domains (2) summary
      pfam00888
      Location:34 → 665
      Cullin; Cullin family
      pfam10557
      Location:698 → 759
      Cullin_Nedd8; Cullin protein neddylation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_006712800.3 → XP_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:684 → 751
      Cullin_Nedd8; Cullin protein neddylation domain
      pfam00888
      Location:23 → 654
      Cullin; Cullin family
    2. XM_011511995.2 → XP_011510297.1  cullin-3 isoform X2

      Conserved Domains (3) summary
      smart00182
      Location:407 → 549
      CULLIN; Cullin
      pfam00888
      Location:21 → 650
      Cullin; Cullin family
      pfam10557
      Location:686 → 746
      Cullin_Nedd8; Cullin protein neddylation domain
    3. XM_011511996.3 → XP_011510298.1  cullin-3 isoform X3

      See identical proteins and their annotated locations for XP_011510298.1

      Conserved Domains (2) summary
      pfam00888
      Location:34 → 601
      Cullin; Cullin family
      pfam10557
      Location:634 → 695
      Cullin_Nedd8; Cullin protein neddylation domain
    4. XM_047446024.1 → XP_047301980.1  cullin-3 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      224952401..225067578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344200.1 → XP_054200175.1  cullin-3 isoform X1

    2. XM_054344201.1 → XP_054200176.1  cullin-3 isoform X2

    3. XM_054344202.1 → XP_054200177.1  cullin-3 isoform X3

    4. XM_054344203.1 → XP_054200178.1  cullin-3 isoform X3

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