• Gene id: 112939

Gene Summary

• Gene Symbol: NACC1   Gene   UCSC   Ensembl
• Aliases: BEND8, BTBD14B, BTBD30, NAC-1, NAC1, NECFM
• Gene name: nucleus accumbens associated 1
• Alternate names: nucleus accumbens-associated protein 1, BEN domain containing 8, BTB/POZ domain-containing protein 14B, nucleus accumbens associated 1, BEN and BTB (POZ) domain containing, transcriptional repressor NAC1,
• Gene location: 19p13.13 (13116847: 13141146)     Exons: 8     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 605451

Protein Summary

• Protein general information: Q96RE7  
  • Name: Nucleus accumbens associated protein 1 (NAC 1) (BTB/POZ domain containing protein 14B)
  • Length: 527  
  • Mass: 57258
  • 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:

  MAQTLQMEIPNFGNSILECLNEQRLQGLYCDVSVVVKGHAFKAHRAVLAASSSYFRDLFNNSRSAVVELPAAVQP
  QSFQQILSFCYTGRLSMNVGDQFLLMYTAGFLQIQEIMEKGTEFFLKVSSPSCDSQGLHAEEAPSSEPQSPVAQT
  SGWPACSTPLPLVSRVKTEQQESDSVQCMPVAKRLWDSGQKEAGGGGNGSRKMAKFSTPDLAANRPHQPPPPQQA
  PVVAAAQPAVAAGAGQPAGGVAAAGGVVSGPSTSERTSPGTSSAYTSDSPGSYHNEEDEEEDGGEEGMDEQYRQI
  CNMYTMYSMMNVGQTAEKVEALPEQVAPESRNRIRVRQDLASLPAELINQIGNRCHPKLYDEGDPSEKLELVTGT
  NVYITRAQLMNCHVSAGTRHKVLLRRLLASFFDRNTLANSCGTGIRSSTNDPRRKPLDSRVLHAVKYYCQNFAPN
  FKESEMNAIAADMCTNARRVVRKSWMPKVKVLKAEDDAYTTFISETGKIEPDMMGVEHGFETASHEGEAGPSAEA
  LQ

• Structural information:
  • Protein Domains: (30..9-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (374..47-)
    (/note="BEN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00784"-)
  • Interpro: IPR018379  IPR000210  IPR011333  
  • Prosite: PS51457 PS50097
  • PDB: 3GA1 4U2N
  • PDBsum: 3GA1 4U2N
  • STRING: ENSP00000292431
• Other Databases: GeneCards:  NACC1  Malacards:  NACC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function
GO:0042826	histone deacetylase binding	ISS	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030054	cell junction	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq