SLN sarcolipin [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLNprovided by HGNC
Official Full Name: sarcolipinprovided by HGNC
Primary source: HGNC:HGNC:11089
See related: Ensembl:ENSG00000170290 MIM:602203; AllianceGenome:HGNC:11089
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
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]
Expression: Biased expression in heart (RPKM 82.3), esophagus (RPKM 53.1) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q22.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (107707378..107712056, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (107714519..107719197, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (107578104..107582782, complement)

Chromosome 11 - NC_000011.10 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Effects of amino acid modifications on the permeability of the pentameric sarcolipin channel.
Title: Effects of amino acid modifications on the permeability of the pentameric sarcolipin channel.
Sarcolipin protein is more abundantly expressed in leg than arm skeletal muscles in humans. Sarcolipin protein expression is not altered by short-term low-intensity exercise but is reduced by repeated sprint exercise. Expression in human skeletal muscle is not associated with adiposity nor resting energy expenditure in overweight men.
Title: Sarcolipin expression in human skeletal muscle: Influence of energy balance and exercise.
Structure-Function Relationship of the SERCA Pump and Its Regulation by Phospholamban and Sarcolipin.
Title: Structure-Function Relationship of the SERCA Pump and Its Regulation by Phospholamban and Sarcolipin.
Self-assembling study of sarcolipin and its mutants in multiple molecular dynamic simulations has been reported.
Title: Self-assembling study of sarcolipin and its mutants in multiple molecular dynamic simulations.
These results suggest that sAnk1 interacts with SLN both directly and in complex with SERCA1 and reduces SLN's inhibitory effect on SERCA1 activity.
Title: Interactions between small ankyrin 1 and sarcolipin coordinately regulate activity of the sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA1).
analysis of transmembrane dynamics of the Thr-5 phosphorylated sarcolipin pentameric channel
Title: Transmembrane dynamics of the Thr-5 phosphorylated sarcolipin pentameric channel.
Phospholamban and sarcolipin are membrane proteins that differentially regulate SERCA function. (Review)
Title: Phospholamban and sarcolipin: Are they functionally redundant or distinct regulators of the Sarco(Endo)Plasmic Reticulum Calcium ATPase?
Molecular dynamics simulations help to clarify and to understand better the SLN pentamer channel that had a hydrophobic gate and could switch Na(+) and Cl(-) ion permeability by hydrated and vacuum states.
Title: Molecular dynamics of water and monovalent-ions transportation mechanisms of pentameric sarcolipin.
Although SLN and PLB binding to SERCA have different functional outcomes on the coupling efficiency of SERCA, both proteins decrease the apparent Ca(2+) affinity of the pump, suggesting that SLN and PLB inhibit SERCA by using a similar mechanism.
Title: Sarcolipin and phospholamban inhibit the calcium pump by populating a similar metal ion-free intermediate state.
SLN and PLN are co-expressed in most fibers, which suggests that super-inhibition of SERCAs may be physiologically important in the regulation of intracellular Ca2+ in human skeletal muscle.
Title: Co-expression of SERCA isoforms, phospholamban and sarcolipin in human skeletal muscle fibers.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11530 (e-PCR)
- UniSTS:77371

RH41839 (e-PCR)
- UniSTS:33394

NoName (e-PCR)
- UniSTS:486830

RH123265 (e-PCR)
- UniSTS:135642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables enzyme inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of ATPase-coupled calcium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of calcium ion import	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of calcium ion transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of catalytic activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of protein-containing complex disassembly	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein depolymerization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of ATPase-coupled calcium transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of relaxation of muscle	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcoplasmic reticulum calcium ion transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in sarcoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in sarcoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sarcolipin

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.