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    CAND1 cullin associated and neddylation dissociated 1 [ Homo sapiens (human) ]

    Gene ID: 55832, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CAND1provided by HGNC
    Official Full Name
    cullin associated and neddylation dissociated 1provided by HGNC
    Primary source
    HGNC:HGNC:30688
    See related
    Ensembl:ENSG00000111530 MIM:607727; AllianceGenome:HGNC:30688
    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
    TIP120; TIP120A
    Summary
    This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
    Expression
    Ubiquitous expression in brain (RPKM 22.8), testis (RPKM 22.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAND1 in Genome Data Viewer
    Location:
    12q14.3-q15
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (67269358..67319953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (67248745..67299478)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (67663138..67713733)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAB11A, member RAS oncogene family pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67581835-67582336 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67630932-67631461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6624 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:67663253-67663904 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:67671759-67672260 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:67672261-67672760 Neighboring gene glycoprotein alpha-galactosyltransferase 2, pseudogene Neighboring gene uncharacterized LOC124902957 Neighboring gene NANOG hESC enhancer GRCh37_chr12:67734433-67734949 Neighboring gene mitochondrial ribosomal protein L40 pseudogene 1 Neighboring gene uncharacterized LOC105369813

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Structural and mechanistic insights into the CAND1-mediated SCF substrate receptor exchange. Shaaban M, et al. Mol Cell, 2023 Jul 6. PMID 37339624
    2. Induced expression, localization, and chromosome mapping of a gene for the TBP-interacting protein 120A. Yogosawa S, et al. Biochem Biophys Res Commun, 1999 Dec 9. PMID 10581176
    3. miR-148a is an androgen-responsive microRNA that promotes LNCaP prostate cell growth by repressing its target CAND1 expression. Murata T, et al. Prostate Cancer Prostatic Dis, 2010 Dec. PMID 20820187
    4. CAND1-dependent control of cullin 1-RING Ub ligases is essential for adipogenesis. Dubiel D, et al. Biochim Biophys Acta, 2013 May. PMID 23328082
    5. Disclosing the Interaction of Carbonic Anhydrase IX with Cullin-Associated NEDD8-Dissociated Protein 1 by Molecular Modeling and Integrated Binding Measurements. Buonanno M, et al. ACS Chem Biol, 2017 Jun 16. PMID 28388044

    See all (250) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASCC3 promotes the immunosuppression and progression of non-small cell lung cancer by impairing the type I interferon response via CAND1-mediated ubiquitination inhibition of STAT3.
      Title: ASCC3 promotes the immunosuppression and progression of non-small cell lung cancer by impairing the type I interferon response via CAND1-mediated ubiquitination inhibition of STAT3.
    2. Structural and mechanistic insights into the CAND1-mediated SCF substrate receptor exchange.
      Title: Structural and mechanistic insights into the CAND1-mediated SCF substrate receptor exchange.
    3. Systemwide disassembly and assembly of SCF ubiquitin ligase complexes.
      Title: Systemwide disassembly and assembly of SCF ubiquitin ligase complexes.
    4. Cullin-associated and neddylation-dissociated 1 protein (CAND1) governs cardiac hypertrophy and heart failure partially through regulating calcineurin degradation.
      Title: Cullin-associated and neddylation-dissociated 1 protein (CAND1) governs cardiac hypertrophy and heart failure partially through regulating calcineurin degradation.
    5. CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
      Title: CAND1 regulates lunapark for the proper tubular network of the endoplasmic reticulum.
    6. miR-33a and CAND1 played an important role in lung cancer proliferation and cell migration
      Title: miR-33a inhibits cell proliferation and invasion by targeting CAND1 in lung cancer.
    7. describe the identification of the structural determinants responsible for the CA IX/CAND1 interaction
      Title: Disclosing the Interaction of Carbonic Anhydrase IX with Cullin-Associated NEDD8-Dissociated Protein 1 by Molecular Modeling and Integrated Binding Measurements.
    8. Data show that the differentiation of LiSa-2 preadipocytes is associated with an increase of cullin-associated and neddylation-dissociated 1 (CAND1), COP9 signalosome (CSN), neddylated cullin 3 (Cul3) and the BTB protein Keap1.
      Title: CAND1 exchange factor promotes Keap1 integration into cullin 3-RING ubiquitin ligase during adipogenesis.
    9. The Epstein-Barr virus protein BPLF1, is targeted to cullin-RING ubiquitin ligases (CRLs) via the interaction of the conserved helix-2 with helix-23 of cullins, at a site involved in electrostatic interaction with CAND1.
      Title: Herpes virus deneddylases interrupt the cullin-RING ligase neddylation cycle by inhibiting the binding of CAND1.
    10. We demonstrate that the accumulation of p27 is associated with an increase of CAND1 and a decrease of Skp2 during adipogenesis of human LiSa-2 preadipocytes. CAND1 knockdown reduces p27 and blocks adipogenesis.
      Title: CAND1-dependent control of cullin 1-RING Ub ligases is essential for adipogenesis.
    Submit: New GeneRIF Correction See all GeneRIFs (21)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variation near ROBO2 is associated with expressive vocabulary in infancy.
    EBI GWAS Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10114, FLJ10929, FLJ38691, FLJ90441, KIAA0829, DKFZp434M1414

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables TBP-class protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in SCF complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in SCF complex assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of catalytic activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of RNA polymerase II transcription preinitiation complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of cullin-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in secretory granule lumen TAS
    Traceable Author Statement
    more info
    		  
    part_of ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cullin-associated NEDD8-dissociated protein 1
    Names
    TBP-interacting protein of 120 kDa A
    p120 CAND1

    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_051239.2 RefSeqGene

      Range
      5002..55597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001329674.2 → NP_001316603.1  cullin-associated NEDD8-dissociated protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA766567, AC012518, AC078983
      UniProtKB/TrEMBL
      A8K8U1
      Conserved Domains (3) summary
      sd00044
      Location:793 → 823
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:1016 → 1178
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:125 → 178
      HEAT_EZ; HEAT-like repeat

    2. NM_001329675.2 → NP_001316604.1  cullin-associated NEDD8-dissociated protein 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AA766567, AC012518, AC078983
      UniProtKB/TrEMBL
      A8K8U1
      Conserved Domains (3) summary
      sd00044
      Location:793 → 823
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:1016 → 1178
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:125 → 178
      HEAT_EZ; HEAT-like repeat

    3. NM_001329676.2 → NP_001316605.1  cullin-associated NEDD8-dissociated protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA766567, AC012518, AC078983
      UniProtKB/TrEMBL
      A8K8U1

    4. NM_018448.5 → NP_060918.2  cullin-associated NEDD8-dissociated protein 1 isoform 1

      See identical proteins and their annotated locations for NP_060918.2

      Status: REVIEWED

      Source sequence(s)
      AB020636, AC078983, AL136810, BQ024785, DB064887
      Consensus CDS
      CCDS8977.1
      UniProtKB/Swiss-Prot
      B2RAU3, O94918, Q6PIY4, Q86VP6, Q8NDJ4, Q96JZ9, Q96T19, Q9BTC4, Q9H0G2, Q9P0H7, Q9UF85
      UniProtKB/TrEMBL
      A8K8U1
      Related
      ENSP00000442318.1, ENST00000545606.6
      Conserved Domains (3) summary
      sd00044
      Location:817 → 847
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:1040 → 1202
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:150 → 202
      HEAT_EZ; HEAT-like repeat

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      67269358..67319953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      67248745..67299478
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86VP6.2 GenPept UniProtKB/Swiss-Prot:Q86VP6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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