Human Gene NCOA6 (ENST00000359003.7_11) from GENCODE V47lift37
  Description: nuclear receptor coactivator 6, transcript variant 1 (from RefSeq NM_014071.5)
Gencode Transcript: ENST00000359003.7_11
Gencode Gene: ENSG00000198646.14_16
Transcript (Including UTRs)
   Position: hg19 chr20:33,302,578-33,413,454 Size: 110,877 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr20:33,303,126-33,370,158 Size: 67,033 Coding Exon Count: 13 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:33,302,578-33,413,454)mRNA (may differ from genome)Protein (2063 aa)
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-  Comments and Description Text from UniProtKB
  ID: NCOA6_HUMAN
DESCRIPTION: RecName: Full=Nuclear receptor coactivator 6; AltName: Full=Activating signal cointegrator 2; Short=ASC-2; AltName: Full=Amplified in breast cancer protein 3; AltName: Full=Cancer-amplified transcriptional coactivator ASC-2; AltName: Full=Nuclear receptor coactivator RAP250; Short=NRC RAP250; AltName: Full=Nuclear receptor-activating protein, 250 kDa; AltName: Full=Peroxisome proliferator-activated receptor-interacting protein; Short=PPAR-interacting protein; Short=PRIP; AltName: Full=Thyroid hormone receptor-binding protein;
FUNCTION: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Coactivates expression in an agonist- and AF2-dependent manner. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ERs), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Probably functions as a general coactivator, rather than just a nuclear receptor coactivator. May also be involved in the coactivation of the NF-kappa-B pathway. May coactivate expression via a remodeling of chromatin and its interaction with histone acetyltransferase proteins.
SUBUNIT: Monomer and homodimer. Interacts with RBM39 (By similarity). Interacts in vitro with the basal transcription factors GTF2A and TBP, suggesting an autonomous transactivation function. Interacts with NCOA1, CRSP3, RBM14, the histone acetyltransferases EP300 and CREBBP, and with the methyltransferases NCOA6IP and PRMT2/HRMT1L1. Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or MLL3, ASH2L, RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with ZNF335.
INTERACTION: P10275:AR; NbExp=2; IntAct=EBI-78670, EBI-608057; Q92793:CREBBP; NbExp=2; IntAct=EBI-78670, EBI-81215; O14686:MLL2; NbExp=6; IntAct=EBI-78670, EBI-996065; Q8NEZ4:MLL3; NbExp=4; IntAct=EBI-78670, EBI-1042997; P06400:RB1; NbExp=3; IntAct=EBI-78670, EBI-491274;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in brain, prostate, testis and ovary; weakly expressed in lung, thymus and small intestine.
DOMAIN: Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. Only motif 1 is essential for the association with nuclear receptors, while adjacent Ser-884 displays selectivity for nuclear receptors.
PTM: Phosphorylated by PRKDC.
PTM: Phosphorylation on Ser-884 leads to a strong decrease in binding to ESR1 and ESR2.
MISCELLANEOUS: Frequently amplified or overexpressed in colon, breast and lung cancers.
SEQUENCE CAUTION: Sequence=AAF16403.1; Type=Frameshift; Positions=88; Sequence=BAA11498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NCOA6
Diseases sorted by gene-association score: breast cancer (2), malignant melanoma, somatic (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.40 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 317.91 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.30343-0.403 Picture PostScript Text
3' UTR -114.40548-0.209 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026638 - NCOA6

Pfam Domains:
PF13820 - Putative nucleic acid-binding region

SCOP Domains:
47598 - Ribbon-helix-helix
50494 - Trypsin-like serine proteases

ModBase Predicted Comparative 3D Structure on Q14686
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0019899 enzyme binding
GO:0030331 estrogen receptor binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0046965 retinoid X receptor binding
GO:0046966 thyroid hormone receptor binding

Biological Process:
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006351 transcription, DNA-templated
GO:0006352 DNA-templated transcription, initiation
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0007420 brain development
GO:0007507 heart development
GO:0009725 response to hormone
GO:0019216 regulation of lipid metabolic process
GO:0030099 myeloid cell differentiation
GO:0030520 intracellular estrogen receptor signaling pathway
GO:0042921 glucocorticoid receptor signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005829 cytosol
GO:0035097 histone methyltransferase complex
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AF208227 - Homo sapiens transcriptional coactivator AIB3 (AIB3) mRNA, complete cds.
BC069829 - Homo sapiens cDNA clone IMAGE:6046659, containing frame-shift errors.
JD082600 - Sequence 63624 from Patent EP1572962.
AK027040 - Homo sapiens cDNA: FLJ23387 fis, clone HEP16961, highly similar to AF208227 Homo sapiens transcriptional coactivator AIB3 mRNA.
AF245115 - Homo sapiens nuclear receptor coactivator mRNA, complete cds.
D80003 - Homo sapiens KIAA0181 mRNA, complete cds.
AF171667 - Homo sapiens thyroid hormone receptor binding protein (TRBP) mRNA, complete cds.
AF177388 - Homo sapiens cancer-amplified transcriptional coactivator ASC-2 (ASC2) mRNA, complete cds.
AF128458 - Homo sapiens nuclear receptor coactivator RAP250 mRNA, complete cds.
BC136272 - Homo sapiens nuclear receptor coactivator 6, mRNA (cDNA clone MGC:167882 IMAGE:9020259), complete cds.
JD182975 - Sequence 163999 from Patent EP1572962.
JD238776 - Sequence 219800 from Patent EP1572962.
JD061360 - Sequence 42384 from Patent EP1572962.
JD475970 - Sequence 456994 from Patent EP1572962.
JD285188 - Sequence 266212 from Patent EP1572962.
JF707637 - Homo sapiens nuclear receptor coactivator-6 beta (NCOA6) mRNA, complete cds, alternatively spliced.
AB383786 - Synthetic construct DNA, clone: pF1KSDA0181, Homo sapiens NCOA6 gene for nuclear receptor coactivator 6, complete cds, without stop codon, in Flexi system.
JF707638 - Homo sapiens nuclear receptor coactivator-6 gamma (NCOA6) mRNA, complete cds, alternatively spliced.
JF707639 - Homo sapiens nuclear receptor coactivator-6 delta (NCOA6) mRNA, complete cds, alternatively spliced.
L37706 - Homo sapiens clone 44 mRNA sequence.
BC047886 - Homo sapiens nuclear receptor coactivator 6, mRNA (cDNA clone IMAGE:5787304), containing frame-shift errors.
BC114613 - Homo sapiens nuclear receptor coactivator 6, mRNA (cDNA clone IMAGE:40030708), partial cds.
BC035676 - Homo sapiens nuclear receptor coactivator 6, mRNA (cDNA clone IMAGE:5742517), with apparent retained intron.
JD052447 - Sequence 33471 from Patent EP1572962.
JD087935 - Sequence 68959 from Patent EP1572962.
JD244998 - Sequence 226022 from Patent EP1572962.
JD305233 - Sequence 286257 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14686 (Reactome details) participates in the following event(s):

R-HSA-400143 Fatty acid ligands activate PPARA
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-5619507 Activation of HOX genes during differentiation
R-HSA-556833 Metabolism of lipids
R-HSA-1266738 Developmental Biology
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLF1, AIB3, B2RMN5, E1P5P7, ENST00000359003.1, ENST00000359003.2, ENST00000359003.3, ENST00000359003.4, ENST00000359003.5, ENST00000359003.6, KIAA0181, NCOA6_HUMAN, NM_014071, Q14686, Q9NTZ9, Q9UH74, Q9UK86, RAP250, TRBP, uc318avm.1, uc318avm.2
UCSC ID: ENST00000359003.7_11
RefSeq Accession: NM_014071.5
Protein: Q14686 (aka NCOA6_HUMAN or NCO6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.