Srl sarcalumenin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Srlprovided by MGI
Official Full Name: sarcalumeninprovided by MGI
Primary source: MGI:MGI:2146620
See related: Ensembl:ENSMUSG00000022519 AllianceGenome:MGI:2146620
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: sar; 9830004M20Rik
Summary: Predicted to enable GTP binding activity. Acts upstream of or within response to muscle activity involved in regulation of muscle adaptation and store-operated calcium entry. Predicted to be located in sarcoplasmic reticulum lumen and sarcoplasmic reticulum membrane. Is expressed in brain ventricular layer; diaphragm; limb; skeletal musculature; and tail mesenchyme. Orthologous to human SRL (sarcalumenin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in heart adult (RPKM 108.7), mammary gland adult (RPKM 15.6) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 16 A1; 16 2.44 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (4294843..4359772, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (4476979..4541908, complement)

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?

Results indicated that sine oculis homeobox 1 (Six1) overexpression could significantly promote the expression of fast-type muscle genes Atp2a1, Srl, and Mylpf.
Title: Overexpression of Six1 gene suppresses proliferation and enhances expression of fast-type muscle genes in C2C12 myoblasts.
The important role of SAR in maintaining Ca(2+) transport activity of SERCA2a and cardiac function in the senescent population, is reported.
Title: Sarcalumenin plays a critical role in age-related cardiac dysfunction due to decreases in SERCA2a expression and activity.
SAR plays a critical role in maintaining cardiac function under physiological stresses, such as endurance exercise, by regulating Ca(2+) transport activity into the sarcoplasmic reticulum
Title: Sarcalumenin is essential for maintaining cardiac function during endurance exercise training.
sarcalumenin-SERCA2a interaction plays an essential role in preserving cardiac function under biomechanical stresses such as pressure overload.
Title: Sarcalumenin alleviates stress-induced cardiac dysfunction by improving Ca2+ handling of the sarcoplasmic reticulum.
SAR plays important roles in improving the Ca2+ handling functions of the SR in striated muscle.
Title: Impaired Ca2+ store functions in skeletal and cardiac muscle cells from sarcalumenin-deficient mice.
sarcalumenin knockout mice have enhanced resistance to fatigue and altered calcium handling properties
Title: Enhanced resistance to fatigue and altered calcium handling properties of sarcalumenin knockout mice.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:488192

AW108387 (e-PCR)
- UniSTS:180851

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within response to muscle activity involved in regulation of muscle adaptation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in store-operated calcium entry	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within store-operated calcium entry	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in sarcoplasmic reticulum lumen	IEA Inferred from Electronic Annotation more info
located_in sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sarcalumenin

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_001347162.2 → NP_001334091.1 sarcalumenin isoform 2 precursor

Status: VALIDATED

Source sequence(s)

AC157597, AK036394

Consensus CDS

CCDS84202.1

UniProtKB/Swiss-Prot

A6H5Y7, Q7TQ48, Q8BS43

Related

ENSMUSP00000087986.4, ENSMUST00000090500.10

Conserved Domains (2) summary

cd09913
Location:94 → 335

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:58 → 89

EHD_N; N-terminal EH-domain containing protein
NM_001361474.2 → NP_001348403.1 sarcalumenin isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC157597

Conserved Domains (2) summary

cd09913
Location:95 → 336

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:59 → 90

EHD_N; N-terminal EH-domain containing protein
NM_175347.6 → NP_780556.2 sarcalumenin isoform 1 precursor

See identical proteins and their annotated locations for NP_780556.2

Status: VALIDATED

Source sequence(s)

AC157597, BC145687

Consensus CDS

CCDS27918.1

UniProtKB/Swiss-Prot

Q7TQ48

Related

ENSMUSP00000023161.8, ENSMUST00000023161.8

Conserved Domains (3) summary

cd09913
Location:532 → 773

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:496 → 527

EHD_N; N-terminal EH-domain containing protein

cl01681
Location:741 → 815

DUF2115; Uncharacterized protein conserved in archaea (DUF2115)

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_000082.7 Reference GRCm39 C57BL/6J

Range

4294843..4359772 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316846.2 → XP_017172335.1 sarcalumenin isoform X2

Conserved Domains (2) summary

cd09913
Location:53 → 294

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:17 → 48

EHD_N; N-terminal EH-domain containing protein
XM_017316847.3 → XP_017172336.1 sarcalumenin isoform X2

Conserved Domains (2) summary

cd09913
Location:53 → 294

EHD; Eps15 homology domain (EHD), C-terminal domain

pfam16880
Location:17 → 48

EHD_N; N-terminal EH-domain containing protein
XM_030248915.2 → XP_030104775.1 sarcalumenin isoform X1

Conserved Domains (3) summary

cd09913
Location:531 → 772

EHD; Eps15 homology domain (EHD), C-terminal domain

TIGR00927
Location:186 → 468

2A1904; K+-dependent Na+/Ca+ exchanger

pfam16880
Location:495 → 526

EHD_N; N-terminal EH-domain containing protein