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    NACC1 nucleus accumbens associated 1 [ Homo sapiens (human) ]

    Gene ID: 112939, updated on 5-May-2024

    Summary

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    Official Symbol
    NACC1provided by HGNC
    Official Full Name
    nucleus accumbens associated 1provided by HGNC
    Primary source
    HGNC:HGNC:20967
    See related
    Ensembl:ENSG00000160877 MIM:610672; AllianceGenome:HGNC:20967
    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
    NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B
    Summary
    This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in brain (RPKM 11.6), testis (RPKM 8.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13116852..13141147)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13241986..13266361)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13229078..13251961)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14065 Neighboring gene uncharacterized LOC105372282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13220465-13220965 Neighboring gene tRNA methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14110 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13230123-13230624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13230625-13231125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10194 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14111 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13234142-13234801 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13247773-13248692 Neighboring gene syntaxin 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10195 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14114 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13263956-13264839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14115 Neighboring gene immediate early response 2

    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
    • 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. Mechanistic insights of NAC1 nuclear export and its role in ovarian cancer resistance to docetaxel. Dong S, et al. Biochem Pharmacol, 2023 May. PMID 37019189
    2. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Schoch K, et al. Am J Hum Genet, 2017 Feb 2. PMID 28132692, Free PMC Article
    3. Protein complex formation and intranuclear dynamics of NAC1 in cancer cells. Nakayama N, et al. Arch Biochem Biophys, 2016 Sep 15. PMID 27424155
    4. Nucleus Accumbens-Associated Protein 1 Expression Has Potential as a Marker for Distinguishing Oral Epithelial Dysplasia and Squamous Cell Carcinoma. Sekine J, et al. PLoS One, 2015. PMID 26172271, Free PMC Article
    5. Low expression of nucleus accumbens-associated protein 1 predicts poor prognosis for patients with pancreatic ductal adenocarcinoma. Nishi T, et al. Pathol Int, 2012 Dec. PMID 23252869

    See all (82) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects.
      Title: An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects.
    2. Mechanistic insights of NAC1 nuclear export and its role in ovarian cancer resistance to docetaxel.
      Title: Mechanistic insights of NAC1 nuclear export and its role in ovarian cancer resistance to docetaxel.
    3. Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions.
      Title: Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions.
    4. FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
      Title: FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
    5. lncRNA FOXP4AS1 predicts poor prognosis and accelerates the progression of mantle cell lymphoma through the miR4235p/NACC1 pathway.
      Title: lncRNA FOXP4‑AS1 predicts poor prognosis and accelerates the progression of mantle cell lymphoma through the miR‑423‑5p/NACC1 pathway.
    6. NAC1 attenuates BCL6 negative autoregulation and functions as a BCL6 coactivator of FOXQ1 transcription in cancer cells.
      Title: NAC1 attenuates BCL6 negative autoregulation and functions as a BCL6 coactivator of FOXQ1 transcription in cancer cells.
    7. NACC-1 regulates hepatocellular carcinoma cell malignancy and is targeted by miR-760.
      Title: NACC-1 regulates hepatocellular carcinoma cell malignancy and is targeted by miR-760.
    8. We identified human nucleus accumbens-associated 1 (NAC1), a member of the BTB/POZ family, as a bridge for MAVS and TBK1 that positively regulates the RIG-I-like receptors-mediated induction of type I IFN
      Title: NAC1 Potentiates Cellular Antiviral Signaling by Bridging MAVS and TBK1.
    9. LINC00319 promotes ovarian cancer progression through upregulating NACC1 expression by restraining miR-423-5p.
      Title: LncRNA LINC00319 accelerates ovarian cancer progression through miR-423-5p/NACC1 pathway.
    10. NAC1/ HMGB1 signaling pathway is associated with the epithelial-mesenchymal transition (EMT), invasion, and metastasis of lung cancer cells.
      Title: NAC1/HMGB1 Signaling Pathway Is Associated with Epithelial-mesenchymal Transition, Invasion, and Metastasis of Lung Cancer Cell Line.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ37383

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone deacetylase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription 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 positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    nucleus accumbens-associated protein 1
    Names
    BEN domain containing 8
    BTB/POZ domain-containing protein 14B
    nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
    transcriptional repressor NAC1

    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.

    mRNA and Protein(s)

    1. NM_052876.4 → NP_443108.1  nucleus accumbens-associated protein 1

      See identical proteins and their annotated locations for NP_443108.1

      Status: REVIEWED

      Source sequence(s)
      AC005546, AF395817, AK094702, BU508302, BU623112, BX395451
      Consensus CDS
      CCDS12294.1
      UniProtKB/Swiss-Prot
      Q96RE7
      Related
      ENSP00000292431.3, ENST00000292431.5
      Conserved Domains (2) summary
      smart01025
      Location:396 → 474
      BEN; The BEN domain is found in diverse animal proteins
      cd18290
      Location:3 → 125
      BTB_POZ_BTBD14B_NAC1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in nucleus accumbens-associated protein 1 (NAC-1)

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13116852..13141147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259721.4 → XP_005259778.1  nucleus accumbens-associated protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005259778.1

      UniProtKB/Swiss-Prot
      Q96RE7
      Related
      ENSP00000467120.2, ENST00000586171.3
      Conserved Domains (2) summary
      smart01025
      Location:396 → 474
      BEN; The BEN domain is found in diverse animal proteins
      cd18290
      Location:3 → 125
      BTB_POZ_BTBD14B_NAC1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in nucleus accumbens-associated protein 1 (NAC-1)

    2. XM_047438118.1 → XP_047294074.1  nucleus accumbens-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96RE7
      Related
      ENSP00000514870.1, ENST00000700232.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      13241986..13266361
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319689.1 → XP_054175664.1  nucleus accumbens-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96RE7

    2. XM_054319690.1 → XP_054175665.1  nucleus accumbens-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96RE7

    3. XM_054319691.1 → XP_054175666.1  nucleus accumbens-associated protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q96RE7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96RE7.1 GenPept UniProtKB/Swiss-Prot:Q96RE7

    Gene LinkOut

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