Human Gene NACC1 (uc002mwm.4) Description and Page Index
  Description: Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.
RefSeq Summary (NM_052876): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF395817.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000292431.5/ ENSP00000292431.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr19:13,229,102-13,251,961 Size: 22,860 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:13,246,022-13,249,220 Size: 3,199 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:13,229,102-13,251,961)mRNA (may differ from genome)Protein (527 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: NACC1_HUMAN
DESCRIPTION: RecName: Full=Nucleus accumbens-associated protein 1; Short=NAC-1; AltName: Full=BTB/POZ domain-containing protein 14B;
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.
SUBUNIT: Homooligomer; mediated by the BTB domain. Interacts with HDAC3 and HDAC4. Interacts (via BTB domain) with CUL3, PSMD7 AND RCOR1.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Distribution in the cytoplasm is dependent on phosphorylation (By similarity).
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.
SIMILARITY: Contains 1 BEN domain.
SIMILARITY: Contains 1 BTB (POZ) domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: NACC1
Diseases sorted by gene-association score: neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination* (1231), cerebral atrophy (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.42 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 609.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -115.00175-0.657 Picture PostScript Text
3' UTR -1269.462741-0.463 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018379 - BEN_domain
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ

Pfam Domains:
PF00651 - BTB/POZ domain
PF10523 - BEN domain

SCOP Domains:
54695 - POZ domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3GA1
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q96RE7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell proliferation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051260 protein homooligomerization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016604 nuclear body
GO:0030054 cell junction
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  BC055396 - Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing, mRNA (cDNA clone MGC:61553 IMAGE:6142288), complete cds.
AF395817 - Homo sapiens NAC1 protein mRNA, complete cds.
JD200189 - Sequence 181213 from Patent EP1572962.
DQ584539 - Homo sapiens piRNA piR-51651, complete sequence.
KJ895242 - Synthetic construct Homo sapiens clone ccsbBroadEn_04636 NACC1 gene, encodes complete protein.
AK226064 - Homo sapiens mRNA for Hypothetical protein FLJ37383 variant, clone: ak00172.
AK094702 - Homo sapiens cDNA FLJ37383 fis, clone BRAMY2026168.
DQ570166 - Homo sapiens piRNA piR-30278, complete sequence.
AK123056 - Homo sapiens cDNA FLJ41061 fis, clone THYMU1000074.

-  Other Names for This Gene
  Alternate Gene Symbols: BTBD14B, NAC1, NACC1_HUMAN, NM_052876, NP_443108, Q96RE7, uc002mwm.3
UCSC ID: uc002mwm.4
RefSeq Accession: NM_052876
Protein: Q96RE7 (aka NACC1_HUMAN)
CCDS: CCDS12294.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_052876.3
exon count: 6CDS single in 3' UTR: no RNA size: 4518
ORF size: 1584CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1613.00frame shift in genome: no % Coverage: 99.60
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.