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    Son SON DNA and RNA binding protein [ Rattus norvegicus (Norway rat) ]

    Gene ID: 304092, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sonprovided by RGD
    Official Full Name
    SON DNA and RNA binding proteinprovided by RGD
    Primary source
    RGD:1309013
    See related
    EnsemblRapid:ENSRNOG00000002021 AllianceGenome:RGD:1309013
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable RNA binding activity and RS domain binding activity. Predicted to be involved in mRNA processing; negative regulation of apoptotic process; and regulation of mRNA splicing, via spliceosome. Predicted to be located in nuclear speck. Human ortholog(s) of this gene implicated in ZTTK syndrome and congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay. Orthologous to human SON (SON DNA and RNA binding protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Thymus (RPKM 669.0), Lung (RPKM 633.2) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Son in Genome Data Viewer
    Location:
    11q11
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 11 NC_086029.1 (44336818..44409127)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 11 NC_051346.1 (30850890..30923167)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 11 NC_005110.4 (31806598..31837769)

    Chromosome 11 - NC_086029.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC134481058 Neighboring gene interferon gamma receptor 2 Neighboring gene transmembrane protein 50B Neighboring gene DnaJ heat shock protein family (Hsp40) member C28 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene DNA replication fork stabilization factor DONSON Neighboring gene crystallin zeta like 1 Neighboring gene intersectin 1 Neighboring gene uncharacterized LOC134481057

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. A new self-attenuated therapeutic influenza vaccine that uses host cell-restricted attenuation by artificial microRNAs. Wen K, et al. Int J Pharm, 2022 Jan 25. PMID 34883209, Free PMC Article
    2. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene. Slezak R, et al. Mol Genet Genomic Med, 2020 Oct. PMID 32705777, Free PMC Article
    3. SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. Kim JH, et al. Kidney Int, 2019 Jun. PMID 31005274, Free PMC Article
    4. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive. Tokita MJ, et al. Am J Hum Genet, 2016 Sep 1. PMID 27545676, Free PMC Article
    5. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome. Kim JH, et al. Am J Hum Genet, 2016 Sep 1. PMID 27545680, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables RS domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in mRNA processing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of mitotic cytokinesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of RNA splicing ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of regulation of cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein SON
    Names
    SON DNA-binding protein
    Son DNA binding protein
    Son cell proliferation protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001170327.1 → NP_001163798.1  protein SON isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      JAXUCZ010000011
      UniProtKB/TrEMBL
      A0A8I6GL96, F1MAQ7
      Related
      ENSRNOP00000002769.6, ENSRNOT00000002769.10
      Conserved Domains (3) summary
      cd00048
      Location:2391 → 2428
      DSRM; Double-stranded RNA binding motif. Binding is not sequence specific but is highly specific for double stranded RNA. Found in a variety of proteins including dsRNA dependent protein kinase PKR, RNA helicases, Drosophila staufen protein, E. coli RNase III, ...
      pfam08430
      Location:1014 → 1140
      Forkhead_N; Forkhead N-terminal region
      pfam01585
      Location:2325 → 2368
      G-patch; G-patch domain

    2. NM_001170328.1 → NP_001163799.1  protein SON isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents an alternate splice pattern in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      JAXUCZ010000011
      UniProtKB/TrEMBL
      A0A8I6GL96, E9PTE1
      Related
      ENSRNOP00000044186.5, ENSRNOT00000043410.7
      Conserved Domains (1) summary
      pfam08430
      Location:1014 → 1140
      Forkhead_N; Forkhead N-terminal region

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086029.1 Reference GRCr8

      Range
      44336818..44409127
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039088422.2 → XP_038944350.1  protein SON isoform X2

      UniProtKB/TrEMBL
      A0A8I6GL96
      Conserved Domains (6) summary
      PHA03247
      Location:165 → 441
      PHA03247; large tegument protein UL36; Provisional
      PHA03379
      Location:318 → 654
      PHA03379; EBNA-3A; Provisional
      PRK10811
      Location:1315 → 1470
      rne; ribonuclease E; Reviewed
      NF000535
      Location:711 → 884
      MSCRAMM_SdrC; MSCRAMM family adhesin SdrC
      cd19870
      Location:2372 → 2446
      DSRM_SON-like; double-stranded RNA binding motif of protein SON and similar proteins
      pfam01585
      Location:2308 → 2352
      G-patch; G-patch domain

    2. XM_006248064.5 → XP_006248126.1  protein SON isoform X1

      UniProtKB/TrEMBL
      A0A8I6GL96
      Conserved Domains (3) summary
      smart00358
      Location:2392 → 2460
      DSRM; Double-stranded RNA binding motif
      pfam08430
      Location:1014 → 1140
      Forkhead_N; Forkhead N-terminal region
      pfam01585
      Location:2325 → 2368
      G-patch; G-patch domain

    3. XM_063270595.1 → XP_063126665.1  protein SON isoform X3

      UniProtKB/TrEMBL
      A0A8I6A8R8
      Related
      ENSRNOP00000094650.2, ENSRNOT00000101000.2

    4. XM_063270596.1 → XP_063126666.1  protein SON isoform X4

      Related
      ENSRNOP00000089452.2, ENSRNOT00000106626.2

    5. XM_006248065.5 → XP_006248127.1  protein SON isoform X5

      UniProtKB/TrEMBL
      A0A8I6A372, A0A8I6GL96
      Related
      ENSRNOP00000087454.1, ENSRNOT00000108078.2
      Conserved Domains (1) summary
      pfam08430
      Location:1014 → 1140
      Forkhead_N; Forkhead N-terminal region

    RNA

    1. XR_010055960.1 RNA Sequence

    2. XR_005491037.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version

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