Smtnl1 smoothelin-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smtnl1provided by MGI
Official Full Name: smoothelin-like 1provided by MGI
Primary source: MGI:MGI:1915928
See related: Ensembl:ENSMUSG00000027077 AllianceGenome:MGI:1915928
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CHASM; 1110030K22Rik
Summary: Enables several functions, including calmodulin binding activity; protein domain specific binding activity; and protein phosphatase 1 binding activity. Involved in negative regulation of transcription, DNA-templated. Acts upstream of or within several processes, including blood vessel diameter maintenance; peptidyl-serine phosphorylation; and response to activity. Located in I band; M band; and nucleus. Is expressed in several structures, including aorta; diaphragm; genitourinary system; ileum; and skeletal muscle. Orthologous to human SMTNL1 (smoothelin like 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 1.3), mammary gland adult (RPKM 1.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 D; 2 49.45 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (84641494..84657173, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (84811173..84826847, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Smoothelin-like 1 knockout mice display sex-dependent alterations in blood flow and cardiac function.
Title: Smoothelin-like 1 knockout mice display sex-dependent alterations in blood flow and cardiac function.
Mechanisms by which smoothelin-like protein 1 reverses insulin resistance in myotubules and mice.
Title: Mechanisms by which smoothelin-like protein 1 reverses insulin resistance in myotubules and mice.
Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism.
Title: Smoothelin-Like Protein 1 Regulates Development and Metabolic Transformation of Skeletal Muscle in Hyperthyroidism.
deletion of SMTNL1 contributes to enhancement of pressure-induced contractility of mesenteric resistance vessels by influencing the activity of myosin phosphatase.
Title: Smoothelin-like 1 deletion enhances myogenic reactivity of mesenteric arteries with alterations in PKC and myosin phosphatase signaling.
Pregnancy promotes switching of skeletal muscle to a glycolytic phenotype through the smoothelin-like protein 1 transcriptional cofactor.
Title: Pregnancy and Smoothelin-like Protein 1 (SMTNL1) Deletion Promote the Switching of Skeletal Muscle to a Glycolytic Phenotype in Human and Mice.
Two domains of SMTNL1 bind apo- and calcium-calmodulin independently.
Title: Two domains of the smoothelin-like 1 protein bind apo- and calcium-calmodulin independently.
appears that the type-2 CH domain of CHASM is required for tropomyosin binding and presents a novel function for this protein domain
Title: Intrinsically disordered N-terminus of calponin homology-associated smooth muscle protein (CHASM) interacts with the calponin homology domain to enable tropomyosin binding.
SMTNL1 is a bifunctional co-regulator of PR-B signaling and provides a molecular mechanism whereby PR-B is targeted to alter gene expression patterns within uterine smooth muscle cells to coordinately promote alterations in USM function during pregnancy
Title: Smoothelin-like 1 protein is a bifunctional regulator of the progesterone receptor during pregnancy.
The Smtnl1 proximal promoter enhances expression up to 8-fold in smooth muscle cells and a second activating region lays 500 bp further upstream.
Title: Mapping and functional characterization of the murine smoothelin-like 1 promoter.
Findings define a new conserved pathway in which sexual development and pregnancy mediate smooth and striated muscle adaptations through SMTNL1 and MYPT1.
Title: Smoothelin-like 1 protein regulates myosin phosphatase-targeting subunit 1 expression during sexual development and pregnancy.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

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

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

General gene information

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Markers

D2Mit66 (e-PCR), detects polymorphism
- UniSTS:129461

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables CH domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables calmodulin binding	IPI Inferred from Physical Interaction more info	PubMed
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables myosin phosphatase regulator activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase 1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein phosphatase inhibitor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables tropomyosin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within muscle organ morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within peptidyl-serine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within vasoconstriction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in I band	IDA Inferred from Direct Assay more info	PubMed
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
located_in contractile muscle fiber	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of filamentous actin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule organizing center	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: smoothelin-like protein 1

Names: calponin homology-associated smooth 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_024230.2 → NP_077192.1 smoothelin-like protein 1

See identical proteins and their annotated locations for NP_077192.1

Status: PROVISIONAL

Source sequence(s)

AL928914

Consensus CDS

CCDS16195.1

UniProtKB/Swiss-Prot

Q99LM3

Related

ENSMUSP00000028471.6, ENSMUST00000028471.6

Conserved Domains (3) summary

PTZ00449
Location:150 → 310

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

COG5271
Location:51 → 229

MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

pfam00307
Location:345 → 446

CH; Calponin homology (CH) domain

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_000068.8 Reference GRCm39 C57BL/6J

Range

84641494..84657173 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006500109.5 → XP_006500172.1 smoothelin-like protein 1 isoform X1

See identical proteins and their annotated locations for XP_006500172.1

UniProtKB/Swiss-Prot

Q99LM3

Conserved Domains (3) summary

PTZ00449
Location:150 → 310

PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional

COG5271
Location:51 → 229

MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

pfam00307
Location:345 → 446

CH; Calponin homology (CH) domain