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

    Gene ID: 55832, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    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_051239.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001329674.2NP_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:793823
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:10161178
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:125178
      HEAT_EZ; HEAT-like repeat
    2. NM_001329675.2NP_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:793823
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:10161178
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:125178
      HEAT_EZ; HEAT-like repeat
    3. NM_001329676.2NP_001316605.1  cullin-associated NEDD8-dissociated protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AA766567, AC012518, AC078983
      UniProtKB/TrEMBL
      A8K8U1
    4. NM_018448.5NP_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:817847
      HEAT; HEAT repeat [structural motif]
      pfam08623
      Location:10401202
      TIP120; TATA-binding protein interacting (TIP20)
      pfam13513
      Location:150202
      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)