Son Son DNA binding protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sonprovided by MGI
Official Full Name: Son DNA binding proteinprovided by MGI
Primary source: MGI:MGI:98353
See related: Ensembl:ENSMUSG00000022961 AllianceGenome:MGI:98353
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: nrebp; mKIAA1019; 2900011L12Rik
Summary: Enables 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. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. 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, Dec 2024]
Expression: Ubiquitous expression in thymus adult (RPKM 48.2), ovary adult (RPKM 44.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C3.3- C4; 16 53.22 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (91444712..91476080)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (91647824..91679192)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
Title: A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
SON is an essential m[6]A target for hematopoietic stem cell fate.
Title: SON is an essential m(6)A target for hematopoietic stem cell fate.
Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
Title: Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster
Title: SON protein regulates GATA-2 through transcriptional control of the microRNA 23a~27a~24-2 cluster.
Leptin-induced NREBP is an important regulator of ghrelin signaling in the hypothalamus.
Title: Regulation of ghrelin signaling by a leptin-induced gene, negative regulatory element-binding protein, in the hypothalamic neurons.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125830 (e-PCR)
- UniSTS:162574

Son (e-PCR), detects polymorphism
- UniSTS:479279

Son (e-PCR), detects polymorphism
- UniSTS:259147

RH127092 (e-PCR)
- UniSTS:209249

RH124814 (e-PCR)
- UniSTS:161636

RH136026 (e-PCR)
- UniSTS:210022

ECD07823 (e-PCR)
- UniSTS:288873

AU067731 (e-PCR)
- UniSTS:166019

REN85702 (e-PCR)
- UniSTS:410500

AI845729 (e-PCR)
- UniSTS:166020

REN85703 (e-PCR)
- UniSTS:410501

REN85704 (e-PCR)
- UniSTS:410502

REN85706 (e-PCR)
- UniSTS:410504

REN85712 (e-PCR)
- UniSTS:410510

REN85731 (e-PCR)
- UniSTS:410529

REN85732 (e-PCR)
- UniSTS:410530

REN85733 (e-PCR)
- UniSTS:410531

REN85738 (e-PCR)
- UniSTS:410536

GDB:335409 (e-PCR)
- UniSTS:156598

ECD01730 (e-PCR)
- UniSTS:282831

NoName (e-PCR)
- UniSTS:237548

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RS domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	ISO Inferred from Sequence Orthology more info
involved_in mRNA processing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of microtubule cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of mitotic cytokinesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of mitotic cytokinesis	ISS Inferred from Sequence or Structural Similarity 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
acts_upstream_of regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity 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
involved_in regulation of mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein SON

Names: NRE-binding protein; Son cell proliferation protein; negative regulatory element-binding 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)

NM_019973.2 → NP_064357.2 protein SON isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC131691, AK040621, BC061113, BG229132, CJ088081

Consensus CDS

CCDS37400.1

UniProtKB/TrEMBL

H9KV01

Related

ENSMUSP00000109670.3, ENSMUST00000114036.9

Conserved Domains (1) summary

pfam08430
Location:1011 → 1137

Forkhead_N; Forkhead N-terminal region
NM_178880.4 → NP_849211.3 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)

AC131691, AK040621, AK122418, BC061113, CB849818, CJ088081

Consensus CDS

CCDS37399.1

UniProtKB/Swiss-Prot

E3WC91, E9PXW2, E9Q3H8, E9Q3I0, E9Q6M4, E9Q7G2, E9QAR8, E9QMT0, Q811G3, Q9CQ12, Q9CQK6, Q9QX47, Q9QXP5

UniProtKB/TrEMBL

H9KV00

Related

ENSMUSP00000109671.3, ENSMUST00000114037.9

Conserved Domains (3) summary

cd00048
Location:2389 → 2426

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:1011 → 1137

Forkhead_N; Forkhead N-terminal region

pfam01585
Location:2323 → 2366

G-patch; G-patch domain