Srrm4 serine/arginine repetitive matrix 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Srrm4provided by MGI
Official Full Name: serine/arginine repetitive matrix 4provided by MGI
Primary source: MGI:MGI:1916205
See related: Ensembl:ENSMUSG00000063919 AllianceGenome:MGI:1916205
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: bv; nSR100; mKIAA1853; 1500001A10Rik; B230202K19Rik
Summary: Enables mRNA binding activity. Involved in several processes, including mRNA processing; nervous system development; and regulation of alternative mRNA splicing, via spliceosome. Acts upstream of or within sensory perception of sound. Located in nucleus. Is expressed in brain; cochlear ganglion; and inner ear. Orthologous to human SRRM4 (serine/arginine repetitive matrix 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E14 (RPKM 8.0), whole brain E14.5 (RPKM 7.4) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 56.45 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (116577331..116729882, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (116439268..116592562, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Inhibition of a transcriptional repressor rescues hearing in a splicing factor-deficient mouse.
Title: Inhibition of a transcriptional repressor rescues hearing in a splicing factor-deficient mouse.
Results suggest that SRRM4 controls neurite outgrowth through regulation of alternative splicing of protrudin transcripts.
Title: SRRM4-dependent neuron-specific alternative splicing of protrudin transcripts regulates neurite outgrowth.
Neuronal activity-dependent microexons are nSR100 targets and are misregulated in autism.
Title: Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders.
Loss of nSR100 impairs development of the central and peripheral nervous systems in part by disrupting neurite outgrowth, cortical layering in the forebrain, and axon guidance in the corpus callosum
Title: Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development.
findings show that nSR100 plays a role in the alternative splicing of REST in small cell lung cancer (SCLC); study provides new insight into the role of nSR100 in the expression of sREST, possibly in the pathogenesis of SCLC
Title: The small cell lung cancer-specific isoform of RE1-silencing transcription factor (REST) is regulated by neural-specific Ser/Arg repeat-related protein of 100 kDa (nSR100).
required for the continued survival and differentiation of inner and vestibular hair cells past a set point in their development
Title: Early development and degeneration of vestibular hair cells in bronx waltzer mutant mice.
Srrm4 function is critical in the hearing and balance organs, but not in all neural tissues. Srrm4 is the first alternative-splicing regulator to be associated with hearing. Analysis of bv mice provides exon-level insights into hair-cell development.
Title: A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.
role for nSR100 in the inhibition of REST activity, blocking nSR100 expression in the developing mouse brain impairs neurogenesis
Title: Cross-regulation between an alternative splicing activator and a transcription repressor controls neurogenesis.
Study identified the neural-specific SR-related protein of 100 kDa (nSR100)& shows that nSR100 regulates an extensive network of brain-specific alternative exons enriched in genes that function in neural cell differentiation.
Title: Regulation of vertebrate nervous system alternative splicing and development by an SR-related protein.

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Phenotypes

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Associated conditions

Description	Tests
Bronx waltzer GeneReviews: Not available
flopsy GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (1)
Spontaneous (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in mRNA processing	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of RNA splicing	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of alternative mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in regulation of alternative mRNA splicing, via spliceosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serine/arginine repetitive matrix protein 4

Names: neural-specific SR-related protein of 100 kDa; neural-specific serine/arginine repetitive splicing factor of 100 kDa

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_001403397.1 → NP_001390326.1 serine/arginine repetitive matrix protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AC115972, AC156994

UniProtKB/Swiss-Prot

Q8BKA3, Q8R1S5, Q9CW37

UniProtKB/TrEMBL

J9QHX6
NM_001428966.1 → NP_001415895.1 serine/arginine repetitive matrix protein 4 isoform b

Status: VALIDATED

Source sequence(s)

AC115972, AC156994
NM_026886.4 → NP_081162.1 serine/arginine repetitive matrix protein 4 isoform a

Status: VALIDATED

Source sequence(s)

AC115972, AC156994

Consensus CDS

CCDS19601.1

UniProtKB/Swiss-Prot

Q8BKA3, Q8R1S5, Q9CW37

UniProtKB/TrEMBL

J9QHX6

Related

ENSMUSP00000075488.6, ENSMUST00000076124.7

Conserved Domains (1) summary

pfam15230
Location:463 → 515

SRRM_C; Serine/arginine repetitive matrix protein C-terminus