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FLASH GENE
Symbol NACC1 contributors: mct/npt - updated : 14-03-2017
HGNC name nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
HGNC id 20967
Corresponding disease
CEMRM cataracts, epilepsy, mental retardation, microcephaly,
Location 19p13.13      Physical location : 13.229.108 - 13.251.958
Synonym name
  • transcriptional repressor NAC1
  • BTB (POZ) domain containing 14B
  • Synonym symbol(s) NAC1, BTBD14B, FLJ37383, NAC-1, BEND8, BTBD30
    DNA
    TYPE functioning gene
    STRUCTURE 24.30 kb     6 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - - 500 - 2009 19407373
    6 - 4518 - 527 - 2009 19407373
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Lymphoid/Immunespleen    
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a BTB/POZ domain, essential for homomerization, is critical to form the discrete nuclear bodies and for tumor cell proliferation and survival, and the conserved BTB protein interaction domain in NACC1 is the minimal region for actin binding
  • lacks a zinc-finger DNA-binding domain and thereby differs from most other POZ-domain transcription factors (Stead 2009)
  • C-terminal alpha-helix of POZ domain is shorter than that observed in most other POZ-domain transcription factors (Stead 2009)
  • mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Btbd14b
    Homologene
    FAMILY
  • BTB/POZ domain-containing gene family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies
    text
  • rapidly exchanged between the nucleoplasm and NACC1 nuclear bodies in interphase cells; number of NACC1 bodies significantly increased and their size decreased in the S phase as compared to the G&
  • 8320;/G&
    8321; and G&
    8322; phase
    basic FUNCTION
  • cocaine-regulated POZ/BTB (Pox virus and Zinc finger/Bric-a-brac Tramtrack Broad complex) protein, recruit histone deacetylases for transcriptional repression, further enhancing POZ/BTB protein mediated repression
  • contributes to tumor growth and survival by at least inhibiting GADD45GIP1 expression, which has a tumor suppressor effect in cancer cells (Nakayama 2007)
  • POZ-domain transcription factor that is involved in the self-renewal of embryonic stem cells (Stead 2009)
  • transcriptional regulator function of NACC1 was dependent on its nuclear localization activity in cells
  • transcriptional corepressor protein that is essential to sustain cancer cell proliferation and migration
  • participates in the coordinated proteolysis of synaptic proteins by mediating recruitment of the Ubiquitin Proteasome System (UPS) to dendritic spines
  • NACC1 may function to link TARDBP to the proteasome; thereby, facilitating the post-translational modifications of TARDBP that lead to the development of Amyotrophic Lateral Sclerosis (ALS)
  • down-regulates PRKN by presenting it for ubiquitin-dependent proteasome degradation, which causes a decrease in proteasomal activity in neuronal cells
  • cancer-associated BTB/POZ gene, that is involved in several cellular functions in neurons, cancer and stem cells
  • is a transcriptional repressor and protein binding factor, and probably functions in regulating neural development and network establishment by altering expression, localization, and degradation of many downstream nervous system genes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NACC1/actin/PFN1 complex is crucial for cancer cell cytokinesis, with a variety of important biologic and clinical implications
  • forms a homodimer or heterodimers with other binding partners through the BTB/POZ domain and functions as a transcriptional repressor through recruitment of histone deacetylase
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NACC1 and PRKN are co-localized within the cell and interact with one another, leading to a decrease in PRKN levels
  • activities of PIAS2 are altered by its interaction with the POZ-domain transcriptional repressors BCL6 and NACC1, and these interactions have been implicated in tumourigenesis in B-cell lymphomas and in ovarian serous carcinomas
  • cooperates with PML protein
  • NACC1 coordinates differentiation by activating POU5F1 and inhibiting both SOX2 and TCF3
  • cell & other
    REGULATION
    Other NACC1 can be modified by SUMO paralogues
    ASSOCIATED DISORDERS
    corresponding disease(s) CEMRM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    by cocaine selectively in the nucleus accumbens, a CNS region important for drug addiction
    tumoral     --over  
    in ovarian serous carcinomas, higher in ovarian carcinoma cells in effusions compared with their solid tumor counterparts and several other types of carcinomas (Davidson 2007)
    tumoral     --over  
    in various carcinomas including ovarian, cervical, breast, and pancreatic carcinomas
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • low expression of NACC1 predicts poor prognosis for patients with pancreatic ductal adenocarcinoma
  • Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    targeting of the BTB/POZ domain could be a therapeutic strategy for drug intervention in ovarian cancer and others
    cancerreproductiveovary
    regulates Taxol resistance in ovarian cancer and may provide an effective target for chemotherapeutic intervention in Taxol-resistant tumors
    ANIMAL & CELL MODELS