Human Gene SON (ENST00000356577.10_11) from GENCODE V48lift37
  Description: SON DNA and RNA binding protein, transcript variant f (from RefSeq NM_138927.4)
Gencode Transcript: ENST00000356577.10_11
Gencode Gene: ENSG00000159140.23_21
Transcript (Including UTRs)
   Position: hg19 chr21:34,915,344-34,949,787 Size: 34,444 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr21:34,915,399-34,948,730 Size: 33,332 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2025-04-10 15:10:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:34,915,344-34,949,787)mRNA (may differ from genome)Protein (2426 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIneXtProtOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SON_HUMAN
DESCRIPTION: RecName: Full=Protein SON; AltName: Full=Bax antagonist selected in saccharomyces 1; Short=BASS1; AltName: Full=Negative regulatory element-binding protein; Short=NRE-binding protein; AltName: Full=Protein DBP-5; AltName: Full=SON3;
FUNCTION: RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts that posses weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that posses weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also binds to DNA; binds to the consensus DNA sequence: 5'- GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions.
SUBUNIT: Interacts with SRSF2. Associates with the spliceosome. Interacts with the AML1-MTG8 (AML1-ETO) fusion protein, possibly leading to trigger signals inhibiting leukemogenesis.
SUBCELLULAR LOCATION: Nucleus speckle. Note=Colocalizes with the pre-mRNA splicing factor SRSF2.
TISSUE SPECIFICITY: Widely expressed, with the higher expression seen in leukocyte and heart.
DOMAIN: Contains 8 types of repeats which are distributed in 3 regions.
SIMILARITY: Contains 1 DRBM (double-stranded RNA-binding) domain.
SIMILARITY: Contains 1 G-patch domain.
SEQUENCE CAUTION: Sequence=AAH02422.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAA82971.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAA44793.1; Type=Frameshift; Positions=2315, 2412, 2417; Sequence=CAC69885.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;

-  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: SON
Diseases sorted by gene-association score: zttk syndrome* (928), blue color blindness (12), lethal congenital contracture syndrome 1 (10), anterior horn cell disease (9), glossopharyngeal neuralgia (9), glossopharyngeal nerve disease (9), hepatitis b (5), intellectual disability (2)
* = Manually curated disease association

-  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: 41.07 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1226.45 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 -7.9055-0.144 Picture PostScript Text
3' UTR -261.601057-0.247 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
IPR001159 - Ds-RNA-bd
IPR014720 - dsRNA-bd-like
IPR000467 - G_patch_dom

Pfam Domains:
PF01585 - G-patch domain
PF12656 - G-patch domain
PF14709 - double strand RNA binding domain from DEAD END PROTEIN 1
PF17069 - Arginine/Serine-Rich protein 1

SCOP Domains:
50978 - WD40 repeat-like
50998 - Quinoprotein alcohol dehydrogenase-like
54768 - dsRNA-binding domain-like

ModBase Predicted Comparative 3D Structure on P18583
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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:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0050733 RS domain binding

Biological Process:
GO:0000226 microtubule cytoskeleton organization
GO:0000281 mitotic cytokinesis
GO:0006397 mRNA processing
GO:0007049 cell cycle
GO:0008380 RNA splicing
GO:0043066 negative regulation of apoptotic process
GO:0043484 regulation of RNA splicing
GO:0048024 regulation of mRNA splicing, via spliceosome
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0005634 nucleus
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  BC029455 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:4075982), partial cds.
AK307612 - Homo sapiens cDNA, FLJ97560.
BC104656 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:6739312), partial cds.
AY026895 - Homo sapiens NREBP mRNA, complete cds.
AK127947 - Homo sapiens cDNA FLJ46057 fis, clone T1ESE2000609, highly similar to SON protein.
AK024752 - Homo sapiens cDNA: FLJ21099 fis, clone CAS04610.
BC005337 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:3998051), partial cds.
AF161428 - Homo sapiens HSPC310 mRNA, partial cds.
AF380180 - Homo sapiens SON DNA binding protein isoform B (SON) mRNA, complete cds, alternatively spliced.
AF380179 - Homo sapiens SON DNA binding protein isoform A (SON) mRNA, complete cds, alternatively spliced.
AF380181 - Homo sapiens SON DNA binding protein isoform C (SON) mRNA, complete cds, alternatively spliced.
AF380183 - Homo sapiens SON DNA binding protein isoform E (SON) mRNA, complete cds, alternatively spliced.
AF380184 - Homo sapiens SON DNA binding protein isoform F (SON) mRNA, complete cds, alternatively spliced.
AF161430 - Homo sapiens HSPC312 mRNA, partial cds.
AB028942 - Homo sapiens KIAA1019 mRNA for KIAA1019 protein.
BC066303 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:4793409).
BC046101 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:5552607), containing frame-shift errors.
AF435977 - Homo sapiens negative regulatory element-binding protein (SON) mRNA, complete cds, alternatively spliced.
BC054029 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:5185870).
AK091233 - Homo sapiens cDNA FLJ33914 fis, clone CTONG2016575, highly similar to SON PROTEIN.
AX746865 - Sequence 390 from Patent EP1308459.
DQ591940 - Homo sapiens piRNA piR-59052, complete sequence.
AK074269 - Homo sapiens cDNA FLJ23689 fis, clone HEP10174, highly similar to SON PROTEIN.
AK128071 - Homo sapiens cDNA FLJ46192 fis, clone TESTI4005653, moderately similar to Homo sapiens SON DNA binding protein (SON).
HZ482496 - JP 2015535430-A/3002: TERMINALLY MODIFIED RNA.
HZ792427 - JP 2016504050-A/4172: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC515159 - Sequence 5412 from Patent WO2014113089.
LF160540 - JP 2016513950-A/606: Oligomers with improved off-target profile.
LP715493 - Sequence 14 from Patent WO2016001030.
LQ072747 - Sequence 3071 from Patent EP2964234.
JC506776 - Sequence 144 from Patent EP2733220.
JC737888 - Sequence 144 from Patent WO2014075939.
HZ482495 - JP 2015535430-A/3001: TERMINALLY MODIFIED RNA.
HZ792426 - JP 2016504050-A/4171: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
JC506983 - Sequence 351 from Patent EP2733220.
JC515158 - Sequence 5411 from Patent WO2014113089.
JC738095 - Sequence 351 from Patent WO2014075939.
LF161491 - JP 2016513950-A/1557: Oligomers with improved off-target profile.
LQ072746 - Sequence 3070 from Patent EP2964234.
BC002422 - Homo sapiens SON DNA binding protein, mRNA (cDNA clone IMAGE:3161999), partial cds.
X63753 - Homo sapiens son-a mRNA.
X63751 - Homo sapiens mRNA for putative DNA binding protein (son-b).
MS947304 - Sequence 20 from Patent WO2017037057.
MS947353 - Sequence 69 from Patent WO2017037057.
X63071 - H.sapiens mRNA for novel DNA binding protein.
BC017278 - Homo sapiens cDNA clone IMAGE:4853468, partial cds.
LF210669 - JP 2014500723-A/18172: Polycomb-Associated Non-Coding RNAs.
LF339913 - JP 2014500723-A/147416: Polycomb-Associated Non-Coding RNAs.
AF139897 - Homo sapiens BASS1 (BASS1) mRNA, partial cds.
JD310635 - Sequence 291659 from Patent EP1572962.
JD502446 - Sequence 483470 from Patent EP1572962.
JD535242 - Sequence 516266 from Patent EP1572962.
JD377491 - Sequence 358515 from Patent EP1572962.
JD348624 - Sequence 329648 from Patent EP1572962.
AF380182 - Homo sapiens SON DNA binding protein isoform D (SON) mRNA, complete cds, alternatively spliced.
JD278510 - Sequence 259534 from Patent EP1572962.
JD130157 - Sequence 111181 from Patent EP1572962.
JD297016 - Sequence 278040 from Patent EP1572962.
JD503410 - Sequence 484434 from Patent EP1572962.
JD385345 - Sequence 366369 from Patent EP1572962.
JD108762 - Sequence 89786 from Patent EP1572962.
JD225016 - Sequence 206040 from Patent EP1572962.
MA646248 - JP 2017113010-A/4172: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA734132 - JP 2017140048-A/3002: TERMINALLY MODIFIED RNA.
MA646247 - JP 2017113010-A/4171: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA734131 - JP 2017140048-A/3001: TERMINALLY MODIFIED RNA.
MA405685 - WO 2018155427-A/459: A probe with reduced false positive binding, a method to desing the probe, and the use thereof.
MA446246 - JP 2018138019-A/18172: Polycomb-Associated Non-Coding RNAs.
MA575490 - JP 2018138019-A/147416: Polycomb-Associated Non-Coding RNAs.
MP015024 - Sequence 227 from Patent WO2019016252.
MA803301 - JP 2018183181-A/4172: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.
MA803300 - JP 2018183181-A/4171: SIGNAL-SENSOR POLYNUCLEOTIDES FOR THE ALTERATION OF CELLULAR PHENOTYPES.

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf50, D3DSF5, D3DSF6, DBP5, E7ETE8, E7EU67, E7EVW3, E9PFQ2, ENST00000356577.1, ENST00000356577.2, ENST00000356577.3, ENST00000356577.4, ENST00000356577.5, ENST00000356577.6, ENST00000356577.7, ENST00000356577.8, ENST00000356577.9, HSPC310, HSPC312, KIAA1019, NM_138927, NREBP, O14487, O95981, P18583, Q14120, Q6PKE0, Q9H7B1, Q9P070, Q9P072, Q9UKP9, Q9UPY0, SON_HUMAN, uc317zpu.1, uc317zpu.2
UCSC ID: ENST00000356577.10_11
RefSeq Accession: NM_138927.4
Protein: P18583 (aka SON_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.