NACC1

Functionⁱ

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 mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.2 Publications

GO - Biological processⁱ

negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17804717
positive regulation of cell proliferation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 17130457
- 17804717
protein homooligomerization
Source: UniProtKB
Inferred from direct assayⁱ
- 17130457

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Repressor
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

SIGNORⁱ	Q96RE7

SIGNORⁱ

Q96RE7

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Nucleus accumbens-associated protein 1 Short name: NAC-1 Alternative name(s): BTB/POZ domain-containing protein 14B
Gene namesⁱ	Name:NACC1 Synonyms:BTBD14B, NAC1
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000160877.5
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:20967 NACC1
MIMⁱ	610672 gene
neXtProtⁱ	NX_Q96RE7

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination (NECFM)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy.

Keywords - Diseaseⁱ

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	112939
MalaCards human disease database More...MalaCardsⁱ	NACC1
MIMⁱ	617393 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000160877
Orphanetⁱ	500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
PharmGKBⁱ	PA164723404

Polymorphism and mutation databases

BioMutaⁱ	NACC1
DMDMⁱ	74732694

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000274041	1 – 527	Nucleus accumbens-associated protein 1Add BLAST		527

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Cross-linkⁱ	167	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linkⁱ	167	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linkⁱ	183	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	188	PhosphoserineCombined sources	1
Modified residueⁱ	259	Phosphoserine; by PKCBy similarity	1
Cross-linkⁱ	318	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	452	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	480	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	483	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linkⁱ	498	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q96RE7
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q96RE7
PaxDbⁱ	Q96RE7
PeptideAtlas More...PeptideAtlasⁱ	Q96RE7
PRIDEⁱ	Q96RE7
ProteomicsDBⁱ	77953

PTM databases

GlyConnectⁱ	1582
iPTMnetⁱ	Q96RE7
PhosphoSitePlusⁱ	Q96RE7

Expressionⁱ

Tissue specificityⁱ

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 predicts early recurrence. Up-regulated in ovarian carcinomas after chemotherapy, suggesting a role in development of chemotherapy resistance in ovarian cancer.2 Publications

Gene expression databases

Bgeeⁱ	ENSG00000160877 Expressed in 208 organ(s), highest expression level in cerebellum
CleanExⁱ	HS_NACC1
ExpressionAtlasⁱ	Q96RE7 baseline and differential
Genevisibleⁱ	Q96RE7 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB069927 HPA021238 HPA062245

HPAⁱ

CAB069927
HPA021238
HPA062245

Interactionⁱ

Subunit structureⁱ

Homooligomer; mediated by the BTB domain. Interacts with HDAC3 and HDAC4. Interacts (via BTB domain) with CUL3, PSMD7 AND RCOR1.

Protein-protein interaction databases

BioGridⁱ	125217, 36 interactors
IntActⁱ	Q96RE7, 23 interactors
Molecular INTeraction database More...MINTⁱ	Q96RE7
STRINGⁱ	9606.ENSP00000292431

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	4 – 8	Combined sources	5
Helixⁱ	12 – 25	Combined sources	14
Turnⁱ	26 – 29	Combined sources	4
Beta strandⁱ	32 – 36	Combined sources	5
Beta strandⁱ	39 – 43	Combined sources	5
Helixⁱ	45 – 51	Combined sources	7
Helixⁱ	53 – 61	Combined sources	9
Beta strandⁱ	65 – 68	Combined sources	4
Helixⁱ	75 – 87	Combined sources	13
Beta strandⁱ	88 – 91	Combined sources	4
Turnⁱ	94 – 96	Combined sources	3
Helixⁱ	97 – 106	Combined sources	10
Helixⁱ	110 – 113	Combined sources	4

Show more details

3D structure databases

ProteinModelPortalⁱ	Q96RE7
SMRⁱ	Q96RE7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q96RE7

EvolutionaryTraceⁱ

Q96RE7

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	30 – 94	BTBPROSITE-ProRule annotationAdd BLAST		65
Domainⁱ	374 – 471	BENPROSITE-ProRule annotationAdd BLAST		98

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	194 – 199	Poly-Gly		6

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000119063
HOGENOMⁱ	HOG000231834
HOVERGENⁱ	HBG052875
InParanoidⁱ	Q96RE7
KEGG Orthology (KO) More...KOⁱ	K10486
OMAⁱ	NMGDQFL
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G05RI
PhylomeDBⁱ	Q96RE7
TreeFamⁱ	TF331184

Family and domain databases

InterProⁱ	View protein in InterPro IPR018379 BEN_domain IPR000210 BTB/POZ_dom IPR011333 SKP1/BTB/POZ_sf
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF10523 BEN, 1 hit PF00651 BTB, 1 hit
SMARTⁱ	View protein in SMART SM01025 BEN, 1 hit SM00225 BTB, 1 hit
SUPFAMⁱ	SSF54695 SSF54695, 1 hit
PROSITEⁱ	View protein in PROSITE PS51457 BEN, 1 hit PS50097 BTB, 1 hit

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show all Align All

Q96RE7-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MAQTLQMEIP NFGNSILECL NEQRLQGLYC DVSVVVKGHA FKAHRAVLAA 
        60         70         80         90        100
SSSYFRDLFN NSRSAVVELP AAVQPQSFQQ ILSFCYTGRL SMNVGDQFLL 
       110        120        130        140        150
MYTAGFLQIQ EIMEKGTEFF LKVSSPSCDS QGLHAEEAPS SEPQSPVAQT 
       160        170        180        190        200
SGWPACSTPL PLVSRVKTEQ QESDSVQCMP VAKRLWDSGQ KEAGGGGNGS 
       210        220        230        240        250
RKMAKFSTPD LAANRPHQPP PPQQAPVVAA AQPAVAAGAG QPAGGVAAAG 
       260        270        280        290        300
GVVSGPSTSE RTSPGTSSAY TSDSPGSYHN EEDEEEDGGE EGMDEQYRQI 
       310        320        330        340        350
CNMYTMYSMM NVGQTAEKVE ALPEQVAPES RNRIRVRQDL ASLPAELINQ 
       360        370        380        390        400
IGNRCHPKLY DEGDPSEKLE LVTGTNVYIT RAQLMNCHVS AGTRHKVLLR 
       410        420        430        440        450
RLLASFFDRN TLANSCGTGI RSSTNDPRRK PLDSRVLHAV KYYCQNFAPN 
       460        470        480        490        500
FKESEMNAIA ADMCTNARRV VRKSWMPKVK VLKAEDDAYT TFISETGKIE 
       510        520 
PDMMGVEHGF ETASHEGEAG PSAEALQ

Length:527

Mass (Da):57,258

Last modified:December 1, 2001 - v1

Checksum:ⁱ00BEA89D2DC3DAD2

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

K7ELC5	K7ELC5_HUMAN	Nucleus accumbens-associated protei... Nucleus accumbens-associated protein 1	NACC1	94	Annotation score:
K7ENW4	K7ENW4_HUMAN	Nucleus accumbens-associated protei... Nucleus accumbens-associated protein 1	NACC1	165	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_078808	298	R → W in NECFM. 1 PublicationCorresponds to variant dbSNP:rs1060505041Ensembl.		1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF395817 mRNA Translation: AAK83885.1 BC055396 mRNA Translation: AAH55396.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS12294.1
NCBI Reference Sequences More...RefSeqⁱ	NP_443108.1, NM_052876.3 XP_005259778.1, XM_005259721.3
UniGeneⁱ	Hs.531614

Genome annotation databases

Ensemblⁱ	ENST00000292431; ENSP00000292431; ENSG00000160877
GeneIDⁱ	112939
KEGGⁱ	hsa:112939
UCSC genome browser More...UCSCⁱ	uc002mwm.5 human

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q96RE7	BTB (POZ) domain containing 14B, isoform CRA_a		HUMAN		527	UniRef100_Q96RE7
NACC1 isoform 1		PANTR		527
NACC1 isoform 1		PONAB		527
Uncharacterized protein		PANPA		527
Nucleus accumbens associated 1		GORGO		527
+1

Protein	Similar proteins		Species	Score	Length	Source
Q96RE7	BTB (POZ) domain containing 14B, isoform CRA_a		HUMAN		527	UniRef90_Q96RE7
NACC1 isoform 1		PANTR		527
NACC1 isoform 1		PONAB		527
Uncharacterized protein		PANPA		527
Nucleus accumbens associated 1		GORGO		527
+63

Protein	Similar proteins		Species	Score	Length	Source
Q96RE7	BTB (POZ) domain containing 14B, isoform CRA_a		HUMAN		527	UniRef50_Q96RE7
NACC1 isoform 1		PANTR		527
NACC1 isoform 1		PONAB		527
Uncharacterized protein		PANPA		527
Nucleus accumbens associated 1		GORGO		527
+127

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Undiagnosed Disease Network

NACC1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF395817 mRNA Translation: AAK83885.1 BC055396 mRNA Translation: AAH55396.1
CCDSⁱ	CCDS12294.1
RefSeqⁱ	NP_443108.1, NM_052876.3 XP_005259778.1, XM_005259721.3
UniGeneⁱ	Hs.531614

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	3GA1	X-ray	2.10	A/B	2-125	[»]
	4U2N	X-ray	2.30	A/B	2-125	[»]
ProteinModelPortalⁱ	Q96RE7
SMRⁱ	Q96RE7
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	125217, 36 interactors
IntActⁱ	Q96RE7, 23 interactors
MINTⁱ	Q96RE7
STRINGⁱ	9606.ENSP00000292431

PTM databases

GlyConnectⁱ	1582
iPTMnetⁱ	Q96RE7
PhosphoSitePlusⁱ	Q96RE7

Polymorphism and mutation databases

BioMutaⁱ	NACC1
DMDMⁱ	74732694

Proteomic databases

EPDⁱ	Q96RE7
MaxQBⁱ	Q96RE7
PaxDbⁱ	Q96RE7
PeptideAtlasⁱ	Q96RE7
PRIDEⁱ	Q96RE7
ProteomicsDBⁱ	77953

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000292431; ENSP00000292431; ENSG00000160877
GeneIDⁱ	112939
KEGGⁱ	hsa:112939
UCSCⁱ	uc002mwm.5 human

Organism-specific databases

CTDⁱ	112939
DisGeNETⁱ	112939
EuPathDBⁱ	HostDB:ENSG00000160877.5
GeneCardsⁱ	NACC1
HGNCⁱ	HGNC:20967 NACC1
HPAⁱ	CAB069927 HPA021238 HPA062245
MalaCardsⁱ	NACC1
MIMⁱ	610672 gene 617393 phenotype
neXtProtⁱ	NX_Q96RE7
OpenTargetsⁱ	ENSG00000160877
Orphanetⁱ	500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
PharmGKBⁱ	PA164723404
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1721 Eukaryota COG5048 LUCA
GeneTreeⁱ	ENSGT00760000119063
HOGENOMⁱ	HOG000231834
HOVERGENⁱ	HBG052875
InParanoidⁱ	Q96RE7
KOⁱ	K10486
OMAⁱ	NMGDQFL
OrthoDBⁱ	EOG091G05RI
PhylomeDBⁱ	Q96RE7
TreeFamⁱ	TF331184

Enzyme and pathway databases

SIGNORⁱ	Q96RE7

SIGNORⁱ

Q96RE7

Miscellaneous databases

ChiTaRSⁱ	NACC1 human
EvolutionaryTraceⁱ	Q96RE7
GeneWikiⁱ	BTBD14B
GenomeRNAiⁱ	112939
Protein Ontology More...PROⁱ	PR:Q96RE7
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000160877 Expressed in 208 organ(s), highest expression level in cerebellum
CleanExⁱ	HS_NACC1
ExpressionAtlasⁱ	Q96RE7 baseline and differential
Genevisibleⁱ	Q96RE7 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR018379 BEN_domain IPR000210 BTB/POZ_dom IPR011333 SKP1/BTB/POZ_sf
Pfamⁱ	View protein in Pfam PF10523 BEN, 1 hit PF00651 BTB, 1 hit
SMARTⁱ	View protein in SMART SM01025 BEN, 1 hit SM00225 BTB, 1 hit
SUPFAMⁱ	SSF54695 SSF54695, 1 hit
PROSITEⁱ	View protein in PROSITE PS51457 BEN, 1 hit PS50097 BTB, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NACC1_HUMAN
Accessionⁱ	Q96RE7Primary (citable) accession number: Q96RE7
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
	Last sequence update:	December 1, 2001
	Last modified:	November 7, 2018
	This is version 137 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - Q96RE7 (NACC1_HUMAN)

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Nucleus accumbens-associated protein 1

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Other locations

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Compositional bias

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ