Rbm17 RNA binding motif protein 17 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rbm17provided by MGI
Official Full Name: RNA binding motif protein 17provided by MGI
Primary source: MGI:MGI:1924188
See related: Ensembl:ENSMUSG00000037197 AllianceGenome:MGI:1924188
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: 2700027J02Rik
Summary: Predicted to enable RNA binding activity. Predicted to be involved in alternative mRNA splicing, via spliceosome. Predicted to act upstream of or within RNA splicing and mRNA processing. Located in nucleus. Part of protein-containing complex. Is expressed in brain; ovary; and primary sex cord. Orthologous to human RBM17 (RNA binding motif protein 17). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in CNS E11.5 (RPKM 55.4), CNS E14 (RPKM 34.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A1; 2 8.85 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (11590250..11608061, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (11585439..11603199, complement)

Chromosome 2 - NC_000068.8 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?

we found a significant overlap in genes that undergo both RBM17- and TDP-43-dependent cryptic splicing repression, many of which are associated with survival. We propose that repression of cryptic splicing by RBPs is critical for neuronal health and survival
Title: Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models.
dephosphorylation of pS776-ATXN1 by PP2A regulates the interaction of ATXN1 with the splicing factors RBM17 and U2AF65
Title: 14-3-3 Binding to ataxin-1(ATXN1) regulates its dephosphorylation at Ser-776 and transport to the nucleus.

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Variation

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Alleles

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

Targeted (2) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Rbm17 (e-PCR), detects polymorphism
- UniSTS:479225

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in RNA splicing, via transesterification reactions	TAS Traceable Author Statement more info	PubMed
involved_in alternative mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in alternative mRNA splicing, via spliceosome	ISO Inferred from Sequence Orthology more info
involved_in mRNA cis splicing, via spliceosome	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: splicing factor 45

Names: 45 kDa-splicing factor

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_001418858.1 → NP_001405787.1 splicing factor 45 isoform 2

Status: VALIDATED

Source sequence(s)

AL831794
NM_001418859.1 → NP_001405788.1 splicing factor 45 isoform 3

Status: VALIDATED

Source sequence(s)

AL831794
NM_152824.2 → NP_690037.1 splicing factor 45 isoform 1

See identical proteins and their annotated locations for NP_690037.1

Status: VALIDATED

Source sequence(s)

AL831794

Consensus CDS

CCDS15684.1

UniProtKB/Swiss-Prot

A2AP41, O75939, Q8JZX4

Related

ENSMUSP00000041831.6, ENSMUST00000040314.12

Conserved Domains (2) summary

cd12647
Location:307 → 401

RRM_UHM_SPF45; RNA recognition motif in UHM domain of 45 kDa-splicing factor (SPF45) and similar proteins

pfam01585
Location:235 → 275

G-patch; G-patch domain