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    CUL3 cullin 3 [ Homo sapiens (human) ]

    Gene ID: 8452, updated on 7-Apr-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q36.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (224470150..224585363, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (224952401..225067578, complement)
    105.20220307 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: 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

    Clone Names

    • FLJ25665

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Notch binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables POZ domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cyclin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin ligase complex scaffold activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 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
    involved_in COPII vesicle coating IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in G1/S transition of mitotic cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in Wnt signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within anaphase-promoting complex-dependent catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to amino acid stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in embryonic cleavage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in fibroblast apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gastrulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in liver morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type I interferon production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nuclear protein quality control by the ubiquitin-proteasome system IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of TORC1 signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic cell cycle phase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitotic metaphase/anaphase transition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of protein ubiquitination IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein destabilization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation protein catabolic process at postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in stem cell division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in trophectodermal cellular morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    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 extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane HDA PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in polar microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      pfam00888
      Location:32599
      Cullin; Cullin family
      pfam10557
      Location:632693
      Cullin_Nedd8; Cullin protein neddylation domain
    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
      A8K536, B8ZZC3, O75415, Q13618, Q569L3, Q9UBI8, Q9UET7
      Related
      ENSP00000264414.4, ENST00000264414.9
      Conserved Domains (2) summary
      pfam00888
      Location:34665
      Cullin; Cullin family
      pfam10557
      Location:698759
      Cullin_Nedd8; Cullin protein neddylation domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_006712800.3XP_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
    2. XM_011511995.2XP_011510297.1  cullin-3 isoform X2

      Conserved Domains (3) summary
      smart00182
      Location:407549
      CULLIN; Cullin
      pfam00888
      Location:21650
      Cullin; Cullin family
      pfam10557
      Location:686746
      Cullin_Nedd8; Cullin protein neddylation domain
    3. XM_011511996.3XP_011510298.1  cullin-3 isoform X3

      See identical proteins and their annotated locations for XP_011510298.1

      Conserved Domains (2) summary
      pfam00888
      Location:34601
      Cullin; Cullin family
      pfam10557
      Location:634695
      Cullin_Nedd8; Cullin protein neddylation domain
    4. XM_047446024.1XP_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_054344200.1XP_054200175.1  cullin-3 isoform X1

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

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

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