RSC1A1 regulator of solute carriers 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RSC1A1provided by HGNC
Official Full Name: regulator of solute carriers 1provided by HGNC
Primary source: HGNC:HGNC:10458
See related: Ensembl:ENSG00000215695 MIM:601966; AllianceGenome:HGNC:10458
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: RS1
Summary: The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]
Orthologs: mouse all
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Genomic context

Location:: 1p36.21

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (15659713..15662033)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (15104444..15106764)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (15986208..15988528)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A domain of protein RS1 (RSC1A1) called RS1-Reg down-regulates the plasma membrane abundance of Na(+)-d-glucose cotransporter.
Title: A Modified Tripeptide Motif of RS1 (<i>RSC1A1</i>) Down-Regulates Exocytotic Pathways of Human Na<sup>+</sup>-d-glucose Cotransporters SGLT1, SGLT2, and Glucose Sensor SGLT3 in the Presence of Glucose.
Binding of RS1-Reg to ODC1 inhibits the enzymatic activity at low intracellular glucose, which is blunted at high intracellular glucose.
Title: Protein RS1 (RSC1A1) Downregulates the Exocytotic Pathway of Glucose Transporter SGLT1 at Low Intracellular Glucose via Inhibition of Ornithine Decarboxylase.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
RSC1A1 codes for a 67-kDa protein named RS1 that mediates transcriptional and post-transcriptional regulation of Na(+)-D-glucose cotransporter SGLT1.
Title: Tripeptides of RS1 (RSC1A1) inhibit a monosaccharide-dependent exocytotic pathway of Na+-D-glucose cotransporter SGLT1 with high affinity.
RS1 inhibits the dynamin-dependent release of SGLT1-containing vesicles from the trans-golgi network
Title: Transporter regulator RS1 (RSC1A1) coats the trans-Golgi network and migrates into the nucleus.
Taken together, these data indicate that RSC1A1 modulates dynamin-dependent trafficking of intracellular vesicles containing hSGLT1 in Xenopus oocytes, and modulates PKC-dependent short-term regulation of this transporter.
Title: Downregulation of the Na(+)- D-glucose cotransporter SGLT1 by protein RS1 (RSC1A1) is dependent on dynamin and protein kinase C.
hRS1 protein exhibits glucose-dependent, short-term inhibition of hSGLT1 and hOCT2 by inhibiting the release of vesicles from the trans-Golgi network
Title: RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1.

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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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Homology

Orthologs from Annotation Pipeline: 90 organisms have orthologs with human gene RSC1A1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sodium channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within negative regulation of Golgi to plasma membrane protein transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of exocytosis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of glucose transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of nucleoside transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of nucleoside transport	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within negative regulation of protein localization to plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of transport	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within negative regulation of transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: regulatory solute carrier protein family 1 member 1

Names: regulatory solute carrier protein, family 1, member 1; transporter regulator RS1

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.