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NACC1 nucleus accumbens associated 1 [ Homo sapiens (human) ]

Gene ID: 112939, updated on 7-Jun-2020

Summary

Official Symbol
NACC1provided by HGNC
Official Full Name
nucleus accumbens associated 1provided by HGNC
Primary source
HGNC:HGNC:20967
See related
Ensembl:ENSG00000160877 MIM:610672
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAC1; BEND8; NAC-1; NECFM; BTBD30; BTBD14B
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 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]
Expression
Ubiquitous expression in brain (RPKM 11.6), testis (RPKM 8.4) and 25 other tissues See more
Orthologs

Genomic context

See NACC1 in Genome Data Viewer
Location:
19p13.13
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13116848..13141147)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13228813..13251961)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated CALR, DNASE2 and KLF1 regulatory element Neighboring gene uncharacterized LOC105372282 Neighboring gene Sharpr-MPRA regulatory region 14065 Neighboring gene LYL1 basic helix-loop-helix family member Neighboring gene tRNA methyltransferase 1 Neighboring gene syntaxin 10 Neighboring gene immediate early response 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II proximal promoter sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
histone deacetylase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
nucleus accumbens-associated protein 1
Names
BEN domain containing 8
BTB/POZ domain-containing protein 14B
nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
transcriptional repressor NAC1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_052876.4NP_443108.1  nucleus accumbens-associated protein 1

    See identical proteins and their annotated locations for NP_443108.1

    Status: REVIEWED

    Source sequence(s)
    AC005546, AF395817, AK094702, BU508302, BU623112, BX395451
    Consensus CDS
    CCDS12294.1
    UniProtKB/Swiss-Prot
    Q96RE7
    UniProtKB/TrEMBL
    A0A024R7E0
    Related
    ENSP00000292431.3, ENST00000292431.5
    Conserved Domains (2) summary
    smart01025
    Location:396474
    BEN; The BEN domain is found in diverse animal proteins
    pfam00651
    Location:20122
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13116848..13141147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259721.3XP_005259778.1  nucleus accumbens-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005259778.1

    UniProtKB/Swiss-Prot
    Q96RE7
    UniProtKB/TrEMBL
    A0A024R7E0
    Conserved Domains (2) summary
    smart01025
    Location:396474
    BEN; The BEN domain is found in diverse animal proteins
    pfam00651
    Location:20122
    BTB; BTB/POZ domain
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