Smpx small muscle protein, X-linked [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smpxprovided by MGI
Official Full Name: small muscle protein, X-linkedprovided by MGI
Primary source: MGI:MGI:1913356
See related: Ensembl:ENSMUSG00000041476 AllianceGenome:MGI:1913356
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: Csl; 1010001C09Rik
Summary: Located in muscle tendon junction; myofibril; and nucleus. Is expressed in several structures, including alimentary system; heart; limb; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in X-linked deafness 4. Orthologous to human SMPX (small muscle protein X-linked). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in heart adult (RPKM 48.1), testis adult (RPKM 5.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F4; X 72.67 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (156481969..156535587)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (157698973..157752591)

Chromosome X - NC_000086.8 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?

Mice carrying a mesenchymal-specific deletion of CSL/RBP-Jkappa, a key Notch effector, exhibit spontaneous multifocal keratinocyte tumors that develop after dermal atrophy and inflammation.
Title: Multifocal epithelial tumors and field cancerization from loss of mesenchymal CSL signaling.
Csl localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the Rac1-p38 pathway.
Title: Muscle costameric protein, Chisel/Smpx, associates with focal adhesion complexes and modulates cell spreading in vitro via a Rac1/p38 pathway.
In knockout mice, mutates to no overt phenotype. Overexpression in C2C12 cells alters cell shape, migration and responsiveness to IGF signaling.
Title: The small muscle-specific protein Csl modifies cell shape and promotes myocyte fusion in an insulin-like growth factor 1-dependent manner.

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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 (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Smpx (e-PCR), detects polymorphism
- UniSTS:515320

Gene Ontology Provided by MGI

Component	Evidence Code	Pubs
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in M band	IDA Inferred from Direct Assay more info	PubMed
located_in contractile muscle fiber	IDA Inferred from Direct Assay more info	PubMed
is_active_in costamere	IBA Inferred from Biological aspect of Ancestor more info
located_in costamere	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in muscle tendon junction	IBA Inferred from Biological aspect of Ancestor more info
located_in muscle tendon junction	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small muscular protein

Names: cardiac and skeletal muscle protein; chisel protein; stretch-responsive skeletal muscle 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_001252591.2 → NP_001239520.1 small muscular protein

See identical proteins and their annotated locations for NP_001239520.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the functional protein.

Source sequence(s)

AI035961, AL731811, BQ176246

Consensus CDS

CCDS41190.1

UniProtKB/Swiss-Prot

A2RT38, Q4QRM9, Q8CEX8, Q9DC77, Q9ER98

Related

ENSMUSP00000108140.2, ENSMUST00000112521.8

Conserved Domains (1) summary

pfam15355
Location:1 → 82

Chisel; Stretch-responsive small skeletal muscle X protein, Chisel

RNA

NR_045569.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) includes an additional exon in the central region and near the 3' end compared to variant 2. This variant is represented as non-coding because the use of the supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731811, BQ176246, W18646
NR_103722.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1) includes an additional exon near the 3' end compared to variant 2. This variant is represented as non-coding because the use of the supported start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL731811, BC061051, BQ176246

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

156481969..156535587

Download

GenBank, FASTA, Sequence Viewer (Graphics)

RNA

XR_387086.4 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_025357.3: Suppressed sequence

Description

NM_025357.3: This RefSeq was permanently suppressed because the transcript is a nonsense-mediated mRNA decay (NMD) candidate when it uses a supported upstream start codon.