Sri sorcin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sriprovided by MGI
Official Full Name: sorcinprovided by MGI
Primary source: MGI:MGI:98419
See related: Ensembl:ENSMUSG00000003161 AllianceGenome:MGI:98419
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: Sor; 2210417O06Rik; 2900070H08Rik
Summary: Enables DNA-binding transcription factor binding activity. Involved in several processes, including cytoplasmic sequestering of transcription factor; negative regulation of cardiac muscle contraction; and positive regulation of transport. Acts upstream of or within calcium ion transport. Located in Z disc; plasma membrane; and vesicle. Orthologous to human SRI (sorcin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta adult (RPKM 54.9), large intestine adult (RPKM 37.3) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 A1; 5 3.38 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (8096078..8119314)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (8046078..8069314)

Chromosome 5 - NC_000071.7 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?

Knockdown of sorcin increases HEI-OC1 cell damage induced by cisplatin in vitro.
Title: Knockdown of sorcin increases HEI-OC1 cell damage induced by cisplatin in vitro.
Presence of Pb(2+) ions within the hepatocytes reduces transcript and protein levels of sorcin, a cytosolic adaptor partner of ChREBP. Adenovirus-mediated overexpression of sorcin in Pb(2+) exposed hepatocytes and an in vivo mouse model ameliorates liver steatosis and hepatotoxicity. These results present evidence that sorcin is an essential regulator of Pb2+-induced dyslipidemia in the liver.
Title: Chronic exposure to Pb(2+) perturbs ChREBP transactivation and coerces hepatic dyslipidemia.
Sorcin is involved in the regulation of Ca(+2)-mediated angiogenesis via VEGF/PI3K/Akt pathway in endometrial cells.
Title: Sorcin is involved during embryo implantation via activating VEGF/PI3K/Akt pathway in mice.
sorcin deficiency may trigger cardiac ventricular arrhythmias due to Ca(2+) disturbances
Title: Sorcin ablation plus β-adrenergic stimulation generate an arrhythmogenic substrate in mouse ventricular myocytes.
Sorcin links pancreatic beta cells lipotoxicity to calcium stores and provides a target for intervention in type 2 diabetes.
Title: Sorcin Links Pancreatic β-Cell Lipotoxicity to ER Ca2+ Stores.
Regulation of calcium signaling and cardiac contractility by miR-1 regulated sorcin expression plays a fundamental role in the maintenance of normal cardiac function and in the pathogenesis of cardiac dysfunction.
Title: miR-1 mediated suppression of Sorcin regulates myocardial contractility through modulation of Ca2+ signaling.
Interaction of calcium/calmodulin-dependent protein kinase IIdeltaC with sorcin indirectly modulates ryanodine receptor function in cardiac myocytes.
Title: Interaction of calcium/calmodulin-dependent protein kinase IIdeltaC with sorcin indirectly modulates ryanodine receptor function in cardiac myocytes.
Data further define the role of sorcin in cardiac excitation-contraction coupling and highlight its negative regulation of sarcoplasmic reticulum calcium release.
Title: Expression of a sorcin missense mutation in the heart modulates excitation-contraction coupling.
sorcin is a potent inhibitor of both spontaneous and ICa-triggered RyR activity and is kinetically capable of playing a role in terminating the positive feedback loop of Ca2+-induced Ca2+ release
Title: Sorcin inhibits calcium release and modulates excitation-contraction coupling in the heart.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within calcium ion transport	IPI Inferred from Physical Interaction more info	PubMed
involved_in cytoplasmic sequestering of transcription factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of heart rate	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ryanodine-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription regulatory region DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of cardiac muscle cell contraction	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell communication by electrical coupling involved in cardiac conduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of high voltage-gated calcium channel activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of relaxation of muscle	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in T-tubule	ISO Inferred from Sequence Orthology more info
located_in Z disc	IDA Inferred from Direct Assay more info	PubMed
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
colocalizes_with chromaffin granule membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendritic spine neck	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular exosome	ISO Inferred from Sequence Orthology more info
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sorcin

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_001080974.2 → NP_001074443.1 sorcin isoform 1

See identical proteins and their annotated locations for NP_001074443.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK134747, AK168572, BQ033487

Consensus CDS

CCDS39009.1

UniProtKB/Swiss-Prot

Q3UKC5, Q6P069, Q9CR38, Q9D7V8

Related

ENSMUSP00000118221.2, ENSMUST00000148633.4

Conserved Domains (1) summary

cd16187
Location:34 → 198

EFh_PEF_sorcin; Penta-EF hand, calcium binding motifs, found in sorcin
NM_025618.3 → NP_079894.2 sorcin isoform 2

See identical proteins and their annotated locations for NP_079894.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AK008404, AK008783, AK168572, BQ033487

Consensus CDS

CCDS19079.1

UniProtKB/Swiss-Prot

Q6P069

Related

ENSMUSP00000086165.5, ENSMUST00000088786.11

Conserved Domains (2) summary

cd00051
Location:60 → 115

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cl08302
Location:97 → 146

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

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_000071.7 Reference GRCm39 C57BL/6J

Range

8096078..8119314

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503527.1 → XP_006503590.1 sorcin isoform X1

Conserved Domains (2) summary

cd15897
Location:19 → 49

EFh_PEF; EF-hand motif [structural motif]

cl25352
Location:1 → 113

EFh_PEF; The penta-EF hand (PEF) family
XM_017320600.3 → XP_017176089.1 sorcin isoform X1

Conserved Domains (2) summary

cd15897
Location:19 → 49

EFh_PEF; EF-hand motif [structural motif]

cl25352
Location:1 → 113

EFh_PEF; The penta-EF hand (PEF) family