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Aliases for NACC1 Gene

Aliases for NACC1 Gene

  • Nucleus Accumbens Associated 1 2 2 3 5
  • Nucleus Accumbens Associated 1, BEN And BTB (POZ) Domain Containing 2 3
  • BTB/POZ Domain-Containing Protein 14B 3 4
  • BEN Domain Containing 8 2 3
  • BTBD14B 3 4
  • NAC-1 3 4
  • NAC1 3 4
  • Nucleus Accumbens-Associated Protein 1 3
  • 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. Among its related pathways are Neuroscience. An important paralog of this gene is NACC2.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH19I013115 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +2.1 2089 7.7 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 TRMT1 NACC1 ZNF791 ZNF136 ZNF442 CCDC130 MRI1 ZNF564 WDR83OS ZNF44
GH19I013011 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -96.7 -96652 17.2 HDGF FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF213 NFIX ZNF136 ZNF709 ZNF791 TRMT1 CCDC130 MRI1 ZNF44 ZNF564 ZNF625
GH19I013050 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 12.7 -60.6 -60569 12.1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF766 LYL1 NACC1 TRMT1 MAST1 STX10 CALR GCDH ENSG00000267610 PIR45233 NFIX
GH19I013030 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 -82.4 -82421 8.2 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 KLF13 SP3 TRMT1 ZNF844 ZNF791 ZNF442 ZNF136 ZNF625 MRI1 RPS6P25 STX10 ZNF433
GH19I013068 Enhancer 1.2 ENCODE dbSUPER 13.2 -47.0 -47009 3.3 HDGF SMAD1 ATF1 FOXA2 ARNT YY1 TCF12 ZNF766 GATA2 ATF7 ENSG00000267610 LYL1 TRMT1 NACC1 IER2 STX10 RNASEH2A PIR45233 NFIX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NACC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NACC1 gene promoter:

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)

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

No Post-translational modifications

Other Protein References for NACC1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NACC1 (NAC1)
  • Abcam antibodies for NACC1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NACC1

No data available for DME Specific Peptides for NACC1 Gene

Domains & Families for NACC1 Gene

Gene Families for NACC1 Gene

Protein Domains for NACC1 Gene

Suggested Antigen Peptide Sequences for NACC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus 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

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

Gene Ontology (GO) - Biological Process for NACC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
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

No data available for SIGNOR curated interactions for NACC1 Gene

Drugs & Compounds for NACC1 Gene

No Compound Related Data Available

Transcripts for NACC1 Gene

Unigene Clusters for NACC1 Gene

Nucleus accumbens associated 1, BEN and BTB (POZ) domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for NACC1 Gene

GeneLoc Exon Structure for
NACC1
ECgene alternative splicing isoforms for
NACC1

Expression for NACC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NACC1 Gene



Protein tissue co-expression partners for NACC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NACC1 Gene:

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

Primer Products

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 33 34
  • 99.56 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 89 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NACC1 33 34
  • 87.98 (n)
dog
(Canis familiaris)
Mammalia NACC1 33 34
  • 87.47 (n)
rat
(Rattus norvegicus)
Mammalia Nacc1 33
  • 84.41 (n)
mouse
(Mus musculus)
Mammalia Nacc1 33 16 34
  • 84.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NACC1 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NACC1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nacc1 33
  • 77.57 (n)
Str.10168 33
zebrafish
(Danio rerio)
Actinopterygii LOC572093 33
  • 67.71 (n)
NACC1 34
  • 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)

Paralogs for NACC1 Gene

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

Variants for NACC1 Gene

Sequence variations from dbSNP and Humsavar for NACC1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1060505041 pathogenic, Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, not provided, not specified 13,136,099(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
VAR_078808 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM) [MIM:617393] p.Arg298Trp
rs868289171 likely-pathogenic, not provided 13,115,689(+) TTT/T upstream_transcript_variant
rs1000002684 -- 13,126,064(+) A/AA intron_variant
rs1000118341 -- 13,125,786(+) C/T intron_variant

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

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

(1) MalaCards diseases for NACC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, 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) 3 4 58
  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 58
  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 58
  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 58
  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 58

Products for NACC1 Gene

Sources for NACC1 Gene

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