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Protein

Nucleus accumbens-associated protein 1

Gene

NACC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
  • positive regulation of cell proliferation Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiQ96RE7

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000160877.5
HGNCiHGNC:20967 NACC1
MIMi610672 gene
neXtProtiNX_Q96RE7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
See also OMIM:617393
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078808298R → W in NECFM. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNETi112939
MalaCardsiNACC1
MIMi617393 phenotype
OpenTargetsiENSG00000160877
PharmGKBiPA164723404

Polymorphism and mutation databases

BioMutaiNACC1
DMDMi74732694

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002740411 – 527Nucleus accumbens-associated protein 1Add BLAST527

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki167Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki167Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki183Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei188PhosphoserineCombined sources1
Modified residuei259Phosphoserine; by PKCBy similarity1
Cross-linki318Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki452Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki480Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki483Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki498Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96RE7
MaxQBiQ96RE7
PaxDbiQ96RE7
PeptideAtlasiQ96RE7
PRIDEiQ96RE7

PTM databases

iPTMnetiQ96RE7
PhosphoSitePlusiQ96RE7

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

BgeeiENSG00000160877
CleanExiHS_NACC1
ExpressionAtlasiQ96RE7 baseline and differential
GenevisibleiQ96RE7 HS

Organism-specific databases

HPAiHPA021238
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

BioGridi125217, 36 interactors
IntActiQ96RE7, 21 interactors
MINTiQ96RE7
STRINGi9606.ENSP00000292431

Structurei

Secondary structure

1527
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi4 – 8Combined sources5
Helixi12 – 25Combined sources14
Turni26 – 29Combined sources4
Beta strandi32 – 36Combined sources5
Beta strandi39 – 43Combined sources5
Helixi45 – 51Combined sources7
Helixi53 – 61Combined sources9
Beta strandi65 – 68Combined sources4
Helixi75 – 87Combined sources13
Beta strandi88 – 91Combined sources4
Turni94 – 96Combined sources3
Helixi97 – 106Combined sources10
Helixi110 – 113Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GA1X-ray2.10A/B2-125[»]
4U2NX-ray2.30A/B2-125[»]
ProteinModelPortaliQ96RE7
SMRiQ96RE7
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96RE7

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 94BTBPROSITE-ProRule annotationAdd BLAST65
Domaini374 – 471BENPROSITE-ProRule annotationAdd BLAST98

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi194 – 199Poly-Gly6

Phylogenomic databases

eggNOGiKOG1721 Eukaryota
COG5048 LUCA
GeneTreeiENSGT00760000119063
HOGENOMiHOG000231834
HOVERGENiHBG052875
InParanoidiQ96RE7
KOiK10486
OMAiNMGDQFL
OrthoDBiEOG091G05RI
PhylomeDBiQ96RE7
TreeFamiTF331184

Family and domain databases

InterProiView protein in InterPro
IPR018379 BEN_domain
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
PfamiView protein in Pfam
PF10523 BEN, 1 hit
PF00651 BTB, 1 hit
SMARTiView protein in SMART
SM01025 BEN, 1 hit
SM00225 BTB, 1 hit
SUPFAMiSSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS51457 BEN, 1 hit
PS50097 BTB, 1 hit

Sequencei

Sequence statusi: Complete.

Q96RE7-1 [UniParc]FASTAAdd 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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078808298R → W in NECFM. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF395817 mRNA Translation: AAK83885.1
BC055396 mRNA Translation: AAH55396.1
CCDSiCCDS12294.1
RefSeqiNP_443108.1, NM_052876.3
XP_005259778.1, XM_005259721.3
UniGeneiHs.531614

Genome annotation databases

EnsembliENST00000292431; ENSP00000292431; ENSG00000160877
GeneIDi112939
KEGGihsa:112939
UCSCiuc002mwm.5 human

Similar proteinsi

Entry informationi

Entry nameiNACC1_HUMAN
AccessioniPrimary (citable) accession number: Q96RE7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

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