Human Gene NCOA1 (ENST00000348332.8_4) from GENCODE V47lift37
  Description: nuclear receptor coactivator 1, transcript variant 1 (from RefSeq NM_003743.5)
Gencode Transcript: ENST00000348332.8_4
Gencode Gene: ENSG00000084676.16_7
Transcript (Including UTRs)
   Position: hg19 chr2:24,714,123-24,993,571 Size: 279,449 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr2:24,881,547-24,991,260 Size: 109,714 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr2:24,714,123-24,993,571)mRNA (may differ from genome)Protein (1441 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NCOA1_HUMAN
DESCRIPTION: RecName: Full=Nuclear receptor coactivator 1; Short=NCoA-1; EC=2.3.1.48; AltName: Full=Class E basic helix-loop-helix protein 74; Short=bHLHe74; AltName: Full=Protein Hin-2; AltName: Full=RIP160; AltName: Full=Renal carcinoma antigen NY-REN-52; AltName: Full=Steroid receptor coactivator 1; Short=SRC-1;
FUNCTION: Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Involved in the coactivation of different nuclear receptors, such as for steroids (PGR, GR and ER), retinoids (RXRs), thyroid hormone (TRs) and prostanoids (PPARs). Also involved in coactivation mediated by STAT3, STAT5A, STAT5B and STAT6 transcription factors. Displays histone acetyltransferase activity toward H3 and H4; the relevance of such activity remains however unclear. Plays a central role in creating multisubunit coactivator complexes that act via remodeling of chromatin, and possibly acts by participating in both chromatin remodeling and recruitment of general transcription factors. Required with NCOA2 to control energy balance between white and brown adipose tissues. Required for mediating steroid hormone response. Isoform 2 has a higher thyroid hormone-dependent transactivation activity than isoform 1 and isoform 3.
CATALYTIC ACTIVITY: Acetyl-CoA + [histone] = CoA + acetyl- [histone].
SUBUNIT: Interacts with the methyltransferase CARM1 (By similarity). Interacts with NCOA6 and NCOA2. Interacts with the FDL motif of STAT5A and STAT5B. Interacts with the LXXLL motif of STAT6. Interacts with STAT3 following IL-6 stimulation. Interacts with the basal transcription factor GTF2B. Interacts with the histone acetyltransferases EP300 and CREBBP. Interacts with PCAF, COPS5, NR3C1 and TTLL5/STAMP. Interacts with PSMB9. Interacts with UBE2L3; they functionally interact to regulate progesterone receptor transcriptional activity. Interacts with PRMT2 and DDX5. Interacts with ASXL1.
INTERACTION: P59598:Asxl1 (xeno); NbExp=2; IntAct=EBI-455189, EBI-5743705; P03372:ESR1; NbExp=5; IntAct=EBI-455189, EBI-78473; P19785:Esr1 (xeno); NbExp=2; IntAct=EBI-455189, EBI-346765; P25799:Nfkb1 (xeno); NbExp=2; IntAct=EBI-455189, EBI-643958; P06536:Nr3c1 (xeno); NbExp=2; IntAct=EBI-455189, EBI-1187143;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Widely expressed.
DOMAIN: The C-terminal (1107-1441) part mediates the histone acetyltransferase (HAT) activity.
DOMAIN: Contains 7 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. LXXLL motifs 3, 4 and 5 are essential for the association with nuclear receptors. LXXLL motif 7, which is not present in isoform 2, increases the affinity for steroid receptors in vitro.
PTM: Sumoylated; sumoylation increases its interaction with PGR and prolongs its retention in the nucleus. It does not prevent its ubiquitination and does not exert a clear effect on the stability of the protein.
PTM: Ubiquitinated; leading to proteasome-mediated degradation. Ubiquitination and sumoylation take place at different sites.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE: Note=A chromosomal aberration involving NCOA1 is a cause of rhabdomyosarcoma. Translocation t(2;2)(q35;p23) with PAX3 generates the NCOA1-PAX3 oncogene consisting of the N-terminus part of PAX3 and the C-terminus part of NCOA1. The fusion protein acts as a transcriptional activator. Rhabdomyosarcoma is the most common soft tissue carcinoma in childhood, representing 5-8% of all malignancies in children.
SIMILARITY: Belongs to the SRC/p160 nuclear receptor coactivator family.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SIMILARITY: Contains 1 PAS (PER-ARNT-SIM) domain.
SEQUENCE CAUTION: Sequence=AAA64187.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAC50305.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ncoa1/";

-  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: NCOA1
Diseases sorted by gene-association score: rhabdomyosarcoma (10), androgen insensitivity (7), breast cancer (2)

-  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: 17.16 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 601.65 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 -313.30744-0.421 Picture PostScript Text
3' UTR -566.702311-0.245 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
IPR010011 - DUF1518
IPR011598 - HLH_dom
IPR009110 - Nuc_rcpt_coact
IPR014920 - Nuc_rcpt_coact_Ncoa-typ
IPR017426 - Nuclear_rcpt_coactivator
IPR000014 - PAS
IPR013767 - PAS_fold
IPR014935 - SRC-1
IPR008955 - Src1_rcpt_coact

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF00989 - PAS fold
PF07469 - Domain of unknown function (DUF1518)
PF08815 - Nuclear receptor coactivator
PF08832 - Steroid receptor coactivator
PF13426 - PAS domain
PF14598 - PAS domain
PF16665 - Unstructured region on nuclear receptor coactivator protein

SCOP Domains:
69125 - Nuclear receptor coactivator interlocking domain
47459 - HLH, helix-loop-helix DNA-binding domain
55785 - PYP-like sensor domain (PAS domain)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1FM6 - X-ray MuPIT 1FM9 - X-ray MuPIT 1K4W - X-ray 1K74 - X-ray MuPIT 1K7L - X-ray MuPIT 1KV6 - X-ray MuPIT 1N4H - X-ray 1NQ7 - X-ray 1NRL - X-ray MuPIT 1P8D - X-ray MuPIT 1PZL - X-ray MuPIT 1RDT - X-ray MuPIT 1TFC - X-ray MuPIT 1U3R - X-ray MuPIT 1U3S - X-ray MuPIT 1X76 - X-ray MuPIT 1X78 - X-ray MuPIT 1X7B - X-ray MuPIT 1X7J - X-ray MuPIT 1XIU - X-ray 1XV9 - X-ray MuPIT 1XVP - X-ray MuPIT 1YY4 - X-ray MuPIT 1YYE - X-ray MuPIT 1ZAF - X-ray MuPIT 2A3I - X-ray MuPIT 2C52 - NMR MuPIT 2FVJ - X-ray MuPIT 2GTK - X-ray MuPIT 2HBH - X-ray 2HC4 - X-ray 2HCD - X-ray 2HFP - X-ray MuPIT 2NPA - X-ray MuPIT 2NV7 - X-ray MuPIT 2P54 - X-ray MuPIT 2PRG - X-ray 3BEJ - X-ray MuPIT 3BQD - X-ray MuPIT 3CTB - X-ray 3CWD - X-ray 3DCT - X-ray MuPIT 3DCU - X-ray MuPIT 3DR1 - X-ray 3ET1 - X-ray MuPIT 3ET3 - X-ray MuPIT 3FEI - X-ray MuPIT 3FEJ - X-ray MuPIT 3FUR - X-ray MuPIT 3FXV - X-ray MuPIT 3G8I - X-ray MuPIT 3G9E - X-ray MuPIT 3H0A - X-ray MuPIT 3HC5 - X-ray MuPIT 3HC6 - X-ray MuPIT 3HVL - X-ray 3IPQ - X-ray MuPIT 3IPS - X-ray MuPIT 3IPU - X-ray MuPIT 3KMR - X-ray MuPIT 3LMP - X-ray MuPIT 3OKH - X-ray MuPIT 3OKI - X-ray MuPIT 3OLF - X-ray MuPIT 3OLL - X-ray MuPIT 3OLS - X-ray MuPIT 3OMK - X-ray MuPIT 3OMM - X-ray MuPIT 3OMO - X-ray MuPIT 3OMP - X-ray MuPIT 3OMQ - X-ray MuPIT 3OOF - X-ray MuPIT 3OOK - X-ray MuPIT 3P88 - X-ray MuPIT 3P89 - X-ray MuPIT 3QT0 - X-ray MuPIT 3RUT - X-ray MuPIT 3RUU - X-ray MuPIT 3RVF - X-ray MuPIT 3S9S - X-ray MuPIT 3T03 - X-ray 3UU7 - X-ray MuPIT 3UUA - X-ray MuPIT 3UUD - X-ray MuPIT 3V9Y - X-ray MuPIT 3VN2 - X-ray MuPIT 4DK7 - X-ray MuPIT 4DK8 - X-ray MuPIT 4DM6 - X-ray MuPIT 4DM8 - X-ray MuPIT 4DQM - X-ray MuPIT 4F9M - X-ray MuPIT 4G1D - X-ray 4G1Y - X-ray 4G1Z - X-ray 4G20 - X-ray 4G21 - X-ray 4G2H - X-ray


ModBase Predicted Comparative 3D Structure on Q15788
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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 SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0004402 histone acetyltransferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0016922 ligand-dependent nuclear receptor binding
GO:0017162 aryl hydrocarbon receptor binding
GO:0019899 enzyme binding
GO:0030331 estrogen receptor binding
GO:0030374 ligand-dependent nuclear receptor transcription coactivator activity
GO:0035257 nuclear hormone receptor binding
GO:0046983 protein dimerization activity
GO:0047485 protein N-terminus binding
GO:0050681 androgen receptor binding

Biological Process:
GO:0000435 positive regulation of transcription from RNA polymerase II promoter by galactose
GO:0002155 regulation of thyroid hormone mediated signaling pathway
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0015721 bile acid and bile salt transport
GO:0019216 regulation of lipid metabolic process
GO:0030521 androgen receptor signaling pathway
GO:0030522 intracellular receptor signaling pathway
GO:0032870 cellular response to hormone stimulus
GO:0043065 positive regulation of apoptotic process
GO:0043967 histone H4 acetylation
GO:0045666 positive regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0060713 labyrinthine layer morphogenesis
GO:1904017 cellular response to Thyroglobulin triiodothyronine
GO:2001038 regulation of cellular response to drug
GO:2001141 regulation of RNA biosynthetic process

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AK226063 - Homo sapiens mRNA for nuclear receptor coactivator 1 isoform 1 variant, clone: aj00045.
AK290019 - Homo sapiens cDNA FLJ76652 complete cds, highly similar to Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 2, mRNA.
AJ000881 - Homo sapiens mRNA for steroid receptor coactivator 1a.
AJ000882 - Homo sapiens mRNA for steroid receptor coactivator 1e.
U59302 - Human steroid receptor coactivator-1 F-SRC-1 mRNA, complete cds.
BC111533 - Homo sapiens nuclear receptor coactivator 1, mRNA (cDNA clone MGC:129719 IMAGE:40027438), complete cds.
BC111534 - Homo sapiens nuclear receptor coactivator 1, mRNA (cDNA clone MGC:129720 IMAGE:40027439), complete cds.
U90661 - Homo sapiens steroid receptor coactivator-1 mRNA, complete cds.
DL492608 - Novel nucleic acids.
JD428880 - Sequence 409904 from Patent EP1572962.
JD503122 - Sequence 484146 from Patent EP1572962.
BC035976 - Homo sapiens, clone IMAGE:4769500, mRNA.
U40396 - Human steroid receptor coactivator (SRC-1) mRNA, complete cds.
AF242870 - Synthetic construct SRC1 interaction domain-EYFP fusion protein mRNA, complete cds.
AY633656 - Homo sapiens PAX3/NCOA1 fusion protein (PAX3/NCOA1 fusion) mRNA, complete cds.
U19179 - Human (Hin-2) mRNA, complete cds.
U19177 - Human (Hin-2)/HIV1 promoter region chimeric mRNA, partial cds.
JD040914 - Sequence 21938 from Patent EP1572962.
JD068019 - Sequence 49043 from Patent EP1572962.
JD420626 - Sequence 401650 from Patent EP1572962.
LF209464 - JP 2014500723-A/16967: Polycomb-Associated Non-Coding RNAs.
MA445041 - JP 2018138019-A/16967: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ppargPathway - Role of PPAR-gamma Coactivators in Obesity and Thermogenesis
h_rarrxrPathway - Nuclear receptors coordinate the activities of chromatin remodeling complexes and coactivators to facilitate initiation of transcription in carcinoma cells
h_pparaPathway - Mechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha)
h_vdrPathway - Control of Gene Expression by Vitamin D Receptor

Reactome (by CSHL, EBI, and GO)

Protein Q15788 (Reactome details) participates in the following event(s):

R-HSA-381309 PPARG:RXRA heterodimer binds to fatty acid-like ligands
R-HSA-5340251 NR1H4:DCA,CDCA,LCHA binds RXRA and NCOA1,2
R-HSA-9008270 NCOA1 binds ESR1:estrogen:TGFA gene
R-HSA-5579018 NCOA1(868-1441) binds PAX3(1-319)
R-HSA-9023884 NCOA1 recruits EP300 to TGFA promoter
R-HSA-400143 Fatty acid ligands activate PPARA
R-HSA-9023840 HATs and coactivators are recruited to the CTSD gene
R-HSA-9023860 Histone acetyltransferases are recruited to the TFF1 gene
R-HSA-381340 Transcriptional regulation of white adipocyte differentiation
R-HSA-159418 Recycling of bile acids and salts
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-3214847 HATs acetylate histones
R-HSA-400206 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
R-HSA-1266738 Developmental Biology
R-HSA-194068 Bile acid and bile salt metabolism
R-HSA-8939211 ESR-mediated signaling
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-556833 Metabolism of lipids
R-HSA-8957322 Metabolism of steroids
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-4839726 Chromatin organization
R-HSA-1430728 Metabolism
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHE74, ENST00000348332.1, ENST00000348332.2, ENST00000348332.3, ENST00000348332.4, ENST00000348332.5, ENST00000348332.6, ENST00000348332.7, NCOA1_HUMAN, NM_003743, O00150, O43792, O43793, Q13071, Q13420, Q15788, Q2T9G5, Q53SX3, Q6GVI5, Q7KYV3, SRC1, uc317xqs.1, uc317xqs.2
UCSC ID: ENST00000348332.8_4
RefSeq Accession: NM_003743.5
Protein: Q15788 (aka NCOA1_HUMAN or NCO1_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.