NACC1 (nucleus accumbens associated 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 112939
Gene name Nucleus accumbens associated 1
Gene symbol NACC1
Synonyms (NCBI Gene)
BEND8BTBD14BBTBD30NAC-1NAC1NECFM
Chromosome 19
Chromosome location 19p13.13
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
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs1060505041 C>A,T Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic Coding sequence variant, synonymous variant, missense variant
rs1555722264 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
975
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (975)
miRTarBase ID miRNA Experiments Reference
MIRT004542 hsa-miR-218-5p qRT-PCR 19168627
MIRT004542 hsa-miR-218-5p MicroarrayqRT-PCR 19168627
MIRT045313 hsa-miR-185-5p CLASH 23622248
MIRT040358 hsa-miR-615-3p CLASH 23622248
MIRT472553 hsa-miR-23c HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610672 20967 ENSG00000160877
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96RE7
Protein name Nucleus accumbens-associated protein 1 (NAC-1) (BTB/POZ domain-containing protein 14B)
Protein 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 media
PDB 3GA1 , 4U2N , 7BV9 , 8YZS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 20 → 124 BTB/POZ domain Domain
PF10523 BEN 398 → 464 BEN domain Domain
Tissue specificity 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 predict
Sequence 
MAQTLQMEIPNFGNSILECLNEQRLQGLYCDVSVVVKGHAFKAHRAVLAASSSYFRDLFN
NSRSAVVELPAAVQPQSFQQILSFCYTGRLSMNVGDQFLLMYTAGFLQIQEIMEKGTEFF
LKVSSPSCDSQGLHAEEAPSSEPQSPVAQTSGWPACSTPLPLVSRVKTEQQESDSVQCMP
VAKRLWDSGQKEAGGGGNGSRKMAKFSTPDLAANRPHQPPPPQQAPVVAAAQPAVAAGAG
QPAGGVAAAGGVVSGPSTSERTSPGTSSAYTSDSPGSYHNEEDEEEDGGEEGMDEQYRQI
CNMYTMYSMMNVGQTAEKVEALPEQVAPESRNRIRVRQDLASLPAELINQIGNRCHPKLY
DEGDPSEKLELVTGTNVYITRAQLMNCHVSAGTRHKVLLRRLLASFFDRNTLANSCGTGI
RSSTNDPRRKPLDSRVLHAVKYYCQNFAPNFKESEMNAIAADMCTNARRVVRKSWMPKVK
VLKAEDDAYTTFISETGKIEPDMMGVEHGFETASHEGEAGPSAEALQ
Sequence length 527
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
56
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NACC1-related disorder Likely pathogenic; Pathogenic rs2145626399, rs1060505041 RCV004552017
RCV001824794
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Likely pathogenic; Pathogenic rs2145626399, rs1060505041 RCV001775330
RCV000477683
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Conflicting classifications of pathogenicity rs928740437 RCV001252796
Neurodevelopmental disorder Conflicting classifications of pathogenicity rs1555722264 RCV003389053
Papillary renal cell carcinoma type 1 Benign rs752068577 RCV005932088
Show/Hide Text Mining Associations (33)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 24200849
Carcinoma Hepatocellular Associate 32091103
Carcinoma in Situ Associate 26172271
Carcinoma Renal Cell Stimulate 22653145
Carcinoma Squamous Cell Associate 26172271
Cataract Associate 28132692, 37667351
Cholangiocarcinoma Associate 33999553
Colorectal Neoplasms Stimulate 28713930
Demyelinating Autoimmune Diseases CNS Associate 37667351
Developmental Disabilities Associate 28132692, 37667351