SLN sarcolipin [Homo sapiens] - Gene

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Summary

Official Symbol: SLNprovided by HGNC
Official Full Name: sarcolipinprovided by HGNC
Primary source: HGNC:11089
See related: Ensembl:ENSG00000170290; HPRD:03729; MIM:602203
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGC12301; MGC125854; MGC125855
Summary: Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates several sarcoplasmic reticulum Ca(2+)-ATPases. The transmembrane protein interacts with Ca(2+)-ATPases and reduces the accumulation of Ca(2+) in the sarcoplasmic reticulum without affecting the rate of ATP hydrolysis. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q22-q23

Sequence :: Chromosome: 11; NC_000011.9 (107578101..107582787, complement)

See SLN in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The selective downregulation of SLN and enhanced sarcoplasmic reticulum Ca(2+) uptake in human AF suggest that SLN downregulation could play an important role in abnormal intracellular Ca(2+) cycling in atrial pathology.
Title: Decreased sarcolipin protein expression and enhanced sarco(endo)plasmic reticulum Ca2+ uptake in human atrial fibrillation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
sarcolipin is likely to be an atrial chamber-specific regulator of Ca2+ cycling in heart
Title: Atrial chamber-specific expression of sarcolipin is regulated during development and hypertrophic remodeling.
Gene expression of SLN was studied in children with congenital heart defects.
Title: SERCA2a, phospholamban, sarcolipin, and ryanodine receptors gene expression in children with congenital heart defects.
sarcolipin binds to phospholamban and inhibits polymerization
Title: Sarcolipin inhibits polymerization of phospholamban to induce superinhibition of sarco(endo)plasmic reticulum Ca2+-ATPases (SERCAs).
role in regulating sarco(endo)plasmic reticulum Ca2+-ATPase by binding to transmembrane helices alone or in association with phospholamban
Title: Sarcolipin regulates sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA) by binding to transmembrane helices alone or in association with phospholamban.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
O00631	O14983	ATP2A1	HPRD	PubMed
O00631	P26678	PLN	HPRD	PubMed
BioGRID:112474	BioGRID:106977	ATP2A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112474	BioGRID:106978	ATP2A2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:112474	BioGRID:111365	PLN	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
enzyme regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
regulation of calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
integral to membrane	NAS Non-traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
sarcoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: sarcolipin

Names: sarcolipin

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NCBI Reference Sequences (RefSeq)

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_003063.2 → NP_003054.1 sarcolipin

Status: REVIEWED

Source sequence(s)

AP002353, BC094685, BP233121, F30315

Consensus CDS

CCDS31667.1

UniProtKB/Swiss-Prot

O00631

Related

ENSP00000304707, ENST00000305991

Conserved Domains (1) summary

pfam05366
Location:1 – 30
Blast Score: 76

Sarcolipin; Sarcolipin

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

107578101..107582787, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

103503607..103508293, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP002353.4 (45509..50182)	None
genomic	CH471065.1	EAW67094.1
genomic	U96093.1	AAB86980.1
mRNA	AK312097.1	BAG35033.1
mRNA	BC005261.1	AAH05261.2
mRNA	BC094685.1	AAH94685.1
mRNA	BC104150.2	AAI04151.1
mRNA	BC104185.2	AAI04186.1
mRNA	BC113930.1	AAI13931.1
mRNA	BC113987.1	AAI13988.1
mRNA	BP233121.1	None
mRNA	CR450290.1	CAG29286.1
mRNA	F30315.1	None
mRNA	U96094.1	AAB86981.1