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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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