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... See more...

Aliases for NACC1 Gene

Aliases for NACC1 Gene

  • Nucleus Accumbens Associated 1 2 3 5
  • Nucleus Accumbens Associated 1, BEN And BTB (POZ) Domain Containing 2 3
  • Nucleus Accumbens-Associated Protein 1 3 4
  • BTB/POZ Domain-Containing Protein 14B 3 4
  • BEN Domain Containing 8 2 3
  • BTBD14B 3 4
  • NAC-1 3 4
  • NAC1 3 4
  • BTB (POZ) Domain Containing 14B 2
  • Transcriptional Repressor NAC1 3
  • BTBD30 3
  • BEND8 3
  • NECFM 3

External Ids for NACC1 Gene

Previous HGNC Symbols for NACC1 Gene

  • BTBD14B

Previous GeneCards Identifiers for NACC1 Gene

  • GC19P013091
  • GC19P013229
  • GC19P012818

Summaries for NACC1 Gene

Entrez Gene Summary for NACC1 Gene

  • 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]

GeneCards Summary for NACC1 Gene

NACC1 (Nucleus Accumbens Associated 1) is a Protein Coding gene. Diseases associated with NACC1 include Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination and Epilepsy. Among its related pathways are Neuroscience. An important paralog of this gene is NACC2.

UniProtKB/Swiss-Prot Summary for NACC1 Gene

  • Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.

Gene Wiki entry for NACC1 Gene

Additional gene information for NACC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NACC1 Gene

Genomics for NACC1 Gene

GeneHancer (GH) Regulatory Elements for NACC1 Gene

Promoters and enhancers for NACC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J013115 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +2.1 2089 7.7 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A MYC TCF12 POLR2G TRMT1 NACC1 ZNF791 ZNF136 ZNF564 MRI1 ZNF442 CCDC130 ZNF44 WDR83OS
GH19J013050 Promoter/Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 -60.6 -60569 12.1 EP300 FOXK2 ZNF217 CTCF NRF1 TCF12 MYC POLR2G USF1 NCOR1 LYL1 NACC1 TRMT1 MAST1 STX10 CALR GCDH ENSG00000267610 piR-51234 NFIX
GH19J013011 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -96.7 -96652 17.2 EP300 FOXK2 HNRNPK ZSCAN5C NRF1 POLR2G NCOR1 JUND FOS TEAD4 NFIX ZNF709 TRMT1 ZNF136 ZNF44 ZNF20 CCDC130 ZNF625 ZNF564 ZNF844
GH19J013068 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 13.2 -47.0 -47009 3.3 CTCF PHB2 ZIC2 ZBTB11 AFF1 TARDBP HES1 TOE1 MYC CTBP1 ENSG00000267610 LYL1 NACC1 TRMT1 IER2 STX10 piR-51234 NFIX
GH19J013030 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 12 -82.4 -82421 8.2 CTCF ZSCAN5C NCOR1 RBAK ZNF10 ZIC2 KDM6A ZBTB10 TCF7 ZNF623 TRMT1 ZNF844 ZNF791 ZNF136 ZNF442 ZNF625 RPS6P25 STX10 ZNF433 NFIX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NACC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NACC1

Top Transcription factor binding sites by QIAGEN in the NACC1 gene promoter:
  • AML1a
  • AREB6
  • c-Myb
  • GATA-1
  • Spz1
  • USF-1
  • USF1

Genomic Locations for NACC1 Gene

Genomic Locations for NACC1 Gene
chr19:13,116,847-13,141,147
(GRCh38/hg38)
Size:
24,301 bases
Orientation:
Plus strand
chr19:13,228,917-13,251,959
(GRCh37/hg19)
Size:
23,043 bases
Orientation:
Plus strand

Genomic View for NACC1 Gene

Genes around NACC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NACC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NACC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NACC1 Gene

Proteins for NACC1 Gene

  • Protein details for NACC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RE7-NACC1_HUMAN
    Recommended name:
    Nucleus accumbens-associated protein 1
    Protein Accession:
    Q96RE7

    Protein attributes for NACC1 Gene

    Size:
    527 amino acids
    Molecular mass:
    57258 Da
    Quaternary structure:
    • Homooligomer; mediated by the BTB domain. Interacts with HDAC3 and HDAC4. Interacts (via BTB domain) with CUL3, PSMD7 AND RCOR1.

    Three dimensional structures from OCA and Proteopedia for NACC1 Gene

neXtProt entry for NACC1 Gene

Post-translational modifications for NACC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NACC1 Gene

No data available for DME Specific Peptides for NACC1 Gene

Domains & Families for NACC1 Gene

Gene Families for NACC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NACC1 Gene

Blocks:
  • BTB/POZ domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NACC1 Gene

GenScript: Design optimal peptide antigens:
  • BTB/POZ domain-containing protein 14B (NACC1_HUMAN)
genes like me logo Genes that share domains with NACC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NACC1 Gene

Function for NACC1 Gene

Molecular function for NACC1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.

Phenotypes From GWAS Catalog for NACC1 Gene

genes like me logo Genes that share phenotypes with NACC1: view

Human Phenotype Ontology for NACC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NACC1 Gene

MGI Knock Outs for NACC1:

Animal Model Products

CRISPR Products

miRNA for NACC1 Gene

miRTarBase miRNAs that target NACC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NACC1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for NACC1 Gene

Localization for NACC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NACC1 Gene

Nucleus. Cytoplasm. Note=Distribution in the cytoplasm is dependent on phosphorylation. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NACC1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Vesicles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17391728
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0016604 nuclear body IDA 17130457
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with NACC1: view

Pathways & Interactions for NACC1 Gene

PathCards logo

SuperPathways for NACC1 Gene

SuperPathway Contained pathways
1 Neuroscience
genes like me logo Genes that share pathways with NACC1: view

Pathways by source for NACC1 Gene

1 Cell Signaling Technology pathway for NACC1 Gene

SIGNOR curated interactions for NACC1 Gene

Activates:

Gene Ontology (GO) - Biological Process for NACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008284 positive regulation of cell proliferation IMP 17130457
GO:0045892 negative regulation of transcription, DNA-templated IMP 17804717
GO:0051260 protein homooligomerization IDA 17130457
genes like me logo Genes that share ontologies with NACC1: view

Drugs & Compounds for NACC1 Gene

No Compound Related Data Available

Transcripts for NACC1 Gene

mRNA/cDNA for NACC1 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NACC1

Alternative Splicing Database (ASD) splice patterns (SP) for NACC1 Gene

No ASD Table

Relevant External Links for NACC1 Gene

GeneLoc Exon Structure for
NACC1

Expression for NACC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NACC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NACC1 Gene

This gene is overexpressed in CD8 Tcells (20.9), CD4 Tcells (10.2), and Peripheral blood mononuclear cells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NACC1 Gene



Protein tissue co-expression partners for NACC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NACC1

SOURCE GeneReport for Unigene cluster for NACC1 Gene:

Hs.531614

mRNA Expression by UniProt/SwissProt for NACC1 Gene:

Q96RE7-NACC1_HUMAN
Tissue specificity: Overexpressed in several types of carcinomas including ovarian serous carcinomas. Expression levels positively correlate with tumor recurrence in ovarian serous carcinomas, and intense immunoreactivity in primary ovarian tumors predicts early recurrence. Up-regulated in ovarian carcinomas after chemotherapy, suggesting a role in development of chemotherapy resistance in ovarian cancer.

Evidence on tissue expression from TISSUES for NACC1 Gene

  • Eye(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with NACC1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NACC1 Gene

Orthologs for NACC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NACC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NACC1 31 30
  • 99.56 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NACC1 31 30
  • 87.98 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NACC1 31 30
  • 87.47 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nacc1 30
  • 84.41 (n)
mouse
(Mus musculus)
Mammalia Nacc1 17 31 30
  • 84.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NACC1 31
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NACC1 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nacc1 30
  • 77.57 (n)
Str.10168 30
zebrafish
(Danio rerio)
Actinopterygii LOC572093 30
  • 67.71 (n)
NACC1 31
  • 65 (a)
OneToOne
Species where no ortholog for NACC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NACC1 Gene

ENSEMBL:
Gene Tree for NACC1 (if available)
TreeFam:
Gene Tree for NACC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NACC1: view image

Paralogs for NACC1 Gene

(26) SIMAP similar genes for NACC1 Gene using alignment to 3 proteins:

  • NACC1_HUMAN
  • K7ELC5_HUMAN
  • K7ENW4_HUMAN
genes like me logo Genes that share paralogs with NACC1: view

Variants for NACC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NACC1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
674312 Likely Benign: not provided 13,135,830(+) C/T MISSENSE_VARIANT
708243 Benign: not provided 13,138,208(+) C/T SYNONYMOUS_VARIANT
713660 Benign: not provided 13,135,414(+) G/A SYNONYMOUS_VARIANT
714007 Benign: not provided 13,135,917(+) C/T MISSENSE_VARIANT
724030 Benign: not provided 13,136,163(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NACC1 Gene

Variation tolerance for NACC1 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NACC1 Gene

Human Gene Mutation Database (HGMD)
NACC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NACC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NACC1 Gene

Disorders for NACC1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NACC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NACC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NACC1_HUMAN
  • Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) [MIM:617393]: A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy. {ECO:0000269 PubMed:28132692}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NACC1

genes like me logo Genes that share disorders with NACC1: view

No data available for Genatlas for NACC1 Gene

Publications for NACC1 Gene

  1. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. (PMID: 28132692) Schoch K … Shashi V (American journal of human genetics 2017) 2 3 4 54
  2. Structure of the human Nac1 POZ domain. (PMID: 19407373) Stead MA … Wright SC (Acta crystallographica. Section F, Structural biology and crystallization communications 2009) 3 4 54
  3. NAC-1 controls cell growth and survival by repressing transcription of Gadd45GIP1, a candidate tumor suppressor. (PMID: 17804717) Nakayama K … Shih IeM (Cancer research 2007) 3 4 54
  4. Expression and clinical role of the bric-a-brac tramtrack broad complex/poxvirus and zinc protein NAC-1 in ovarian carcinoma effusions. (PMID: 17391728) Davidson B … Shih IeM (Human pathology 2007) 3 4 54
  5. A BTB/POZ protein, NAC-1, is related to tumor recurrence and is essential for tumor growth and survival. (PMID: 17130457) Nakayama K … Shih IeM (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 54

Products for NACC1 Gene

Sources for NACC1 Gene