NACC1 (nucleus accumbens associated 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112939
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleus accumbens associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NACC1
Synonyms (NCBI Gene) Gene synonyms aliases
BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NECFM
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.13
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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.
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 Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610672 20967 ENSG00000160877
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination rs1060505041 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A ClinVar
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease 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