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

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; AllianceGenome:HGNC:20967
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: mouse all
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Genomic context

Location:: 19p13.13

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (13116852..13141147)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (13241986..13266361)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (13229078..13251961)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Title: Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects.
Title: An overview of the co-transcription factor NACC1: Beyond its pro-tumor effects.
Mechanistic insights of NAC1 nuclear export and its role in ovarian cancer resistance to docetaxel.
Title: Mechanistic insights of NAC1 nuclear export and its role in ovarian cancer resistance to docetaxel.
Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions.
Title: Unclassified low grade spindle cell sarcoma with storiform pattern characterized by recurrent novel EWSR1/FUS-NACC1 fusions.
FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
Title: FUS-induced circRHOBTB3 facilitates cell proliferation via miR-600/NACC1 mediated autophagy response in pancreatic ductal adenocarcinoma.
lncRNA FOXP4AS1 predicts poor prognosis and accelerates the progression of mantle cell lymphoma through the miR4235p/NACC1 pathway.
Title: lncRNA FOXP4‑AS1 predicts poor prognosis and accelerates the progression of mantle cell lymphoma through the miR‑423‑5p/NACC1 pathway.
NAC1 attenuates BCL6 negative autoregulation and functions as a BCL6 coactivator of FOXQ1 transcription in cancer cells.
Title: NAC1 attenuates BCL6 negative autoregulation and functions as a BCL6 coactivator of FOXQ1 transcription in cancer cells.
NACC-1 regulates hepatocellular carcinoma cell malignancy and is targeted by miR-760.
Title: NACC-1 regulates hepatocellular carcinoma cell malignancy and is targeted by miR-760.
We identified human nucleus accumbens-associated 1 (NAC1), a member of the BTB/POZ family, as a bridge for MAVS and TBK1 that positively regulates the RIG-I-like receptors-mediated induction of type I IFN
Title: NAC1 Potentiates Cellular Antiviral Signaling by Bridging MAVS and TBK1.
LINC00319 promotes ovarian cancer progression through upregulating NACC1 expression by restraining miR-423-5p.
Title: LncRNA LINC00319 accelerates ovarian cancer progression through miR-423-5p/NACC1 pathway.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MedGen: C4479333 OMIM: 617393 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone deacetylase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_052876.4 → NP_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

Related

ENSP00000292431.3, ENST00000292431.5

Conserved Domains (2) summary

smart01025
Location:396 → 474

BEN; The BEN domain is found in diverse animal proteins

cd18290
Location:3 → 125

BTB_POZ_BTBD14B_NAC1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in nucleus accumbens-associated protein 1 (NAC-1)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

13116852..13141147

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259721.4 → XP_005259778.1 nucleus accumbens-associated protein 1 isoform X1

See identical proteins and their annotated locations for XP_005259778.1

UniProtKB/Swiss-Prot

Q96RE7

Related

ENSP00000467120.2, ENST00000586171.3

Conserved Domains (2) summary

smart01025
Location:396 → 474

BEN; The BEN domain is found in diverse animal proteins

cd18290
Location:3 → 125

BTB_POZ_BTBD14B_NAC1; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in nucleus accumbens-associated protein 1 (NAC-1)
XM_047438118.1 → XP_047294074.1 nucleus accumbens-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

Q96RE7

Related

ENSP00000514870.1, ENST00000700232.1

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

13241986..13266361

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319689.1 → XP_054175664.1 nucleus accumbens-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

Q96RE7
XM_054319690.1 → XP_054175665.1 nucleus accumbens-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

Q96RE7
XM_054319691.1 → XP_054175666.1 nucleus accumbens-associated protein 1 isoform X1

UniProtKB/Swiss-Prot

Q96RE7