UniProtKB - Q96RE7 (NACC1_HUMAN)
Protein
Nucleus accumbens-associated protein 1
Gene
NACC1
Organism
Homo sapiens (Human)
Status
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 - Molecular functioni
- DNA-binding transcription factor activity Source: GO_Central
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: ARUK-UCL
- histone deacetylase binding Source: ARUK-UCL
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: ARUK-UCL
GO - Biological processi
- negative regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of cell population proliferation Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
Keywordsi
Molecular function | Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q96RE7 |
SIGNORi | Q96RE7 |
Names & Taxonomyi
Protein namesi | Recommended name: Nucleus accumbens-associated protein 1Short 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000160877.5 |
HGNCi | HGNC:20967, NACC1 |
MIMi | 610672, gene |
neXtProti | NX_Q96RE7 |
Subcellular locationi
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- cell junction Source: HPA
- cytoplasm Source: UniProtKB-SubCell
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078808 | 298 | R → W in NECFM. 1 PublicationCorresponds to variant dbSNP:rs1060505041EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 112939 |
MalaCardsi | NACC1 |
MIMi | 617393, phenotype |
OpenTargetsi | ENSG00000160877 |
Orphaneti | 500545, Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract |
PharmGKBi | PA164723404 |
Miscellaneous databases
Pharosi | Q96RE7, Tbio |
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 | Graphical view | 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 conjugationProteomic databases
EPDi | Q96RE7 |
jPOSTi | Q96RE7 |
MassIVEi | Q96RE7 |
MaxQBi | Q96RE7 |
PaxDbi | Q96RE7 |
PeptideAtlasi | Q96RE7 |
PRIDEi | Q96RE7 |
ProteomicsDBi | 77953 |
PTM databases
iPTMneti | Q96RE7 |
MetOSitei | Q96RE7 |
PhosphoSitePlusi | Q96RE7 |
SwissPalmi | 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 cerebellum and 221 other tissues |
ExpressionAtlasi | Q96RE7, baseline and differential |
Genevisiblei | Q96RE7, HS |
Organism-specific databases
HPAi | ENSG00000160877, Low tissue specificity |
Interactioni
Subunit structurei
Homooligomer; mediated by the BTB domain.
Interacts with HDAC3 and HDAC4.
Interacts (via BTB domain) with CUL3, PSMD7 AND RCOR1.
Binary interactionsi
Hide detailsQ96RE7
GO - Molecular functioni
- histone deacetylase binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 125217, 55 interactors |
IntActi | Q96RE7, 27 interactors |
MINTi | Q96RE7 |
STRINGi | 9606.ENSP00000292431 |
Miscellaneous databases
RNActi | Q96RE7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q96RE7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
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 |
GeneTreei | ENSGT00940000159327 |
HOGENOMi | CLU_029038_1_0_1 |
InParanoidi | Q96RE7 |
OMAi | QFLLIYT |
OrthoDBi | 567120at2759 |
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 |
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 |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
Q96RE7-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7ELC5 | K7ELC5_HUMAN | Nucleus accumbens-associated protei... | NACC1 | 94 | Annotation score: | ||
K7ENW4 | K7ENW4_HUMAN | Nucleus accumbens-associated protei... | 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:rs1060505041EnsemblClinVar. | 1 |
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 |
Genome annotation databases
Ensembli | ENST00000292431; ENSP00000292431; ENSG00000160877 |
GeneIDi | 112939 |
KEGGi | hsa:112939 |
UCSCi | uc002mwm.5, human |
Similar proteinsi
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 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi 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 | [»] | |
SMRi | Q96RE7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 125217, 55 interactors |
IntActi | Q96RE7, 27 interactors |
MINTi | Q96RE7 |
STRINGi | 9606.ENSP00000292431 |
PTM databases
iPTMneti | Q96RE7 |
MetOSitei | Q96RE7 |
PhosphoSitePlusi | Q96RE7 |
SwissPalmi | Q96RE7 |
Polymorphism and mutation databases
BioMutai | NACC1 |
DMDMi | 74732694 |
Proteomic databases
EPDi | Q96RE7 |
jPOSTi | Q96RE7 |
MassIVEi | Q96RE7 |
MaxQBi | Q96RE7 |
PaxDbi | Q96RE7 |
PeptideAtlasi | Q96RE7 |
PRIDEi | Q96RE7 |
ProteomicsDBi | 77953 |
Protocols and materials databases
Antibodypediai | 13525, 291 antibodies |
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 | ENSG00000160877, Low tissue specificity |
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 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1721, Eukaryota |
GeneTreei | ENSGT00940000159327 |
HOGENOMi | CLU_029038_1_0_1 |
InParanoidi | Q96RE7 |
OMAi | QFLLIYT |
OrthoDBi | 567120at2759 |
PhylomeDBi | Q96RE7 |
TreeFami | TF331184 |
Enzyme and pathway databases
PathwayCommonsi | Q96RE7 |
SIGNORi | Q96RE7 |
Miscellaneous databases
BioGRID-ORCSi | 112939, 20 hits in 845 CRISPR screens |
ChiTaRSi | NACC1, human |
EvolutionaryTracei | Q96RE7 |
GeneWikii | BTBD14B |
GenomeRNAii | 112939 |
Pharosi | Q96RE7, Tbio |
PROi | PR:Q96RE7 |
RNActi | Q96RE7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160877, Expressed in cerebellum and 221 other tissues |
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... |
MobiDBi | 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: | December 2, 2020 | |
This is version 150 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, Reference proteomeDocuments
- 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations