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Srl sarcalumenin [ Mus musculus (house mouse) ]

Gene ID: 106393, updated on 28-Oct-2024

Summary

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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, Oct 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

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See Srl in Genome Data Viewer
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_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36359 Neighboring gene STARR-positive B cell enhancer ABC_E4153 Neighboring gene adenylate cyclase 9 Neighboring gene STARR-seq mESC enhancer starr_39924 Neighboring gene tubulin cofactor a pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr16:4541749-4542050 Neighboring gene transcription factor AP4 Neighboring gene RIKEN cDNA D330022H12 gene Neighboring gene STARR-seq mESC enhancer starr_39936

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Impaired Ca2+ store functions in skeletal and cardiac muscle cells from sarcalumenin-deficient mice. Yoshida M, et al. J Biol Chem, 2005 Feb 4. PMID 15569689
  2. Sarcalumenin alleviates stress-induced cardiac dysfunction by improving Ca2+ handling of the sarcoplasmic reticulum. Shimura M, et al. Cardiovasc Res, 2008 Jan 15. PMID 18006473
  3. Sarcalumenin is essential for maintaining cardiac function during endurance exercise training. Jiao Q, et al. Am J Physiol Heart Circ Physiol, 2009 Aug. PMID 19502553, Free PMC Article
  4. Enhanced resistance to fatigue and altered calcium handling properties of sarcalumenin knockout mice. Zhao X, et al. Physiol Genomics, 2005 Sep 21. PMID 15998745
  5. Sarcalumenin plays a critical role in age-related cardiac dysfunction due to decreases in SERCA2a expression and activity. Jiao Q, et al. Cell Calcium, 2012 Jan. PMID 22119571

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
Submit: New GeneRIF Correction

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

Homology

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)

  1. 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

  2. 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

  3. 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

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    4294843..4359772 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TQ48.2 GenPept UniProtKB/Swiss-Prot:Q7TQ48

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