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

Gene ID: 55832, updated on 8-Aug-2021

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
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
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Genomic context

See CAND1 in Genome Data Viewer
Location:
12q14.3-q15
Exon count:
17
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (67269358..67319953)
105.20201022 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 glycoprotein alpha-galactosyltransferase 2, pseudogene 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

Associated conditions

Description Tests
Common variation near ROBO2 is associated with expressive vocabulary in infancy.
GeneReviews: Not available
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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
PubMed 
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)

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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_051239.1 RefSeqGene

    Range
    5001..50412
    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
    Conserved Domains (3) summary
    sd00044
    Location:793823
    HEAT; HEAT repeat [structural motif]
    pfam08623
    Location:10161178
    TIP120; TATA-binding protein interacting (TIP20)
    pfam13513
    Location:126178
    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
    Conserved Domains (3) summary
    sd00044
    Location:793823
    HEAT; HEAT repeat [structural motif]
    pfam08623
    Location:10161178
    TIP120; TATA-binding protein interacting (TIP20)
    pfam13513
    Location:126178
    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
  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
    Q86VP6
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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