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Aliases for RSC1A1 Gene

Aliases for RSC1A1 Gene

  • Regulator Of Solute Carriers 1 2 3 5
  • Regulatory Solute Carrier Protein, Family 1, Member 1 2 3
  • Transporter Regulator RS1 3 4
  • Regulatory Solute Carrier Protein Family 1 Member 1 3
  • HRS1 4
  • RS1 3

External Ids for RSC1A1 Gene

Previous GeneCards Identifiers for RSC1A1 Gene

  • GC01P015342
  • GC01P015123
  • GC01P015232
  • GC01P015349
  • GC01P015307
  • GC01P015731
  • GC01P015817
  • GC01P015986
  • GC01P014505

Summaries for RSC1A1 Gene

Entrez Gene Summary for RSC1A1 Gene

  • 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]

GeneCards Summary for RSC1A1 Gene

RSC1A1 (Regulator Of Solute Carriers 1) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include ion channel inhibitor activity.

UniProtKB/Swiss-Prot for RSC1A1 Gene

  • Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network.

Additional gene information for RSC1A1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSC1A1 Gene

Genomics for RSC1A1 Gene

GeneHancer (GH) Regulatory Elements for RSC1A1 Gene

Promoters and enhancers for RSC1A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I015659 Promoter 0.5 EPDnew 550.8 +0.0 7 0.1 GC01P015660 PIR39170 RSC1A1 GC01P015666 DDI2
GH01I015696 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.5 +37.7 37692 1.9 PKNOX1 BACH1 MAX EBF1 BMI1 IRF4 RELA ZNF121 POLR2A ATF7 SLC25A34 ENSG00000237938 RSC1A1 FBLIM1 RNU7-179P SCARNA21B PLEKHM2 FAM131C PIR59281 PIR54516
GH01I015627 Enhancer 1.1 ENCODE dbSUPER 11.8 -32.1 -32110 1.4 PKNOX1 ARNT FEZF1 ZNF2 TCF12 ZNF213 RUNX3 REST TSHZ1 ZNF592 PLEKHM2 RSC1A1 SCARNA21B FBLIM1 DDI2 PIR39170 GC01P015660
GH01I015629 Enhancer 0.9 ENCODE dbSUPER 11.8 -29.6 -29552 1.1 ZNF571 NFIB ZNF195 ZNF662 SALL2 ZNF491 MITF NFIC ZNF776 LCORL TMEM51-AS1 SLC25A34 NBPF1 SPEN CROCCP3 RSC1A1 PLEKHM2 RNU7-179P ENSG00000237938 SCARNA21B
GH01I015578 Enhancer 0.9 Ensembl ENCODE dbSUPER 10 -79.9 -79947 2.9 ZFHX2 POLR2A BCL6B MNT MLLT1 EGR2 SCARNA21B RNU7-179P PLEKHM2 RSC1A1 AGMAT PIR62159 DNAJC16
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RSC1A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RSC1A1 gene promoter:

Genomic Locations for RSC1A1 Gene

Genomic Locations for RSC1A1 Gene
chr1:15,659,869-15,661,722
(GRCh38/hg38)
Size:
1,854 bases
Orientation:
Plus strand
chr1:15,986,364-15,988,217
(GRCh37/hg19)

Genomic View for RSC1A1 Gene

Genes around RSC1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSC1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSC1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSC1A1 Gene

Proteins for RSC1A1 Gene

  • Protein details for RSC1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92681-RSCA1_HUMAN
    Recommended name:
    Regulatory solute carrier protein family 1 member 1
    Protein Accession:
    Q92681
    Secondary Accessions:
    • B2RBP5

    Protein attributes for RSC1A1 Gene

    Size:
    617 amino acids
    Molecular mass:
    66790 Da
    Quaternary structure:
    • Interacts with YRDC.

neXtProt entry for RSC1A1 Gene

Post-translational modifications for RSC1A1 Gene

  • Ubiquitination at isoforms=512 and isoforms=522

Other Protein References for RSC1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RSC1A1 Gene

Domains & Families for RSC1A1 Gene

Gene Families for RSC1A1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RSC1A1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RSC1A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92681

UniProtKB/Swiss-Prot:

RSCA1_HUMAN :
  • The tripeptides QCP and QSP mediate post-transcriptional down-regulation of SLC5A1 at the trans-Golgi network. They inhibit a monosaccharide-dependent exocytotic pathway of SLC5A1.
Domain:
  • The tripeptides QCP and QSP mediate post-transcriptional down-regulation of SLC5A1 at the trans-Golgi network. They inhibit a monosaccharide-dependent exocytotic pathway of SLC5A1.
genes like me logo Genes that share domains with RSC1A1: view

Function for RSC1A1 Gene

Molecular function for RSC1A1 Gene

GENATLAS Biochemistry:
regulatory solute carrier protein family 1,member 1,membrane-associated modulator of the sodium-glucose cotransport system
UniProtKB/Swiss-Prot Function:
Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network.

Gene Ontology (GO) - Molecular Function for RSC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008200 ion channel inhibitor activity TAS 8836035
genes like me logo Genes that share ontologies with RSC1A1: view
genes like me logo Genes that share phenotypes with RSC1A1: view

Animal Models for RSC1A1 Gene

MGI Knock Outs for RSC1A1:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RSC1A1 Gene

Localization for RSC1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSC1A1 Gene

Cell membrane. Nucleus. Golgi apparatus, trans-Golgi network. Note=Localizes at the inner side of the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSC1A1 gene
Compartment Confidence
nucleus 5
plasma membrane 4
golgi apparatus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cell Junctions (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RSC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with RSC1A1: view

Pathways & Interactions for RSC1A1 Gene

genes like me logo Genes that share pathways with RSC1A1: view

Interacting Proteins for RSC1A1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000341963%0d%0a9606.ENSP00000302805%0d%0a
Selected Interacting proteins: ENSP00000341963 Q92681-RSCA1_HUMAN for RSC1A1 Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for RSC1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006810 transport TAS 8836035
GO:0051051 negative regulation of transport IDA 2675563
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RSC1A1: view

No data available for SIGNOR curated interactions for RSC1A1 Gene

Drugs & Compounds for RSC1A1 Gene

(1) Drugs for RSC1A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RSC1A1: view

Transcripts for RSC1A1 Gene

mRNA/cDNA for RSC1A1 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(135) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RSC1A1 Gene

Regulatory solute carrier protein, family 1, member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RSC1A1 Gene

No ASD Table

Relevant External Links for RSC1A1 Gene

GeneLoc Exon Structure for
RSC1A1
ECgene alternative splicing isoforms for
RSC1A1

Expression for RSC1A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RSC1A1 Gene

Protein differential expression in normal tissues from HIPED for RSC1A1 Gene

This gene is overexpressed in Plasma (36.4) and Urine (32.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RSC1A1 Gene



Protein tissue co-expression partners for RSC1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RSC1A1 Gene:

RSC1A1

SOURCE GeneReport for Unigene cluster for RSC1A1 Gene:

Hs.239459

mRNA Expression by UniProt/SwissProt for RSC1A1 Gene:

Q92681-RSCA1_HUMAN
Tissue specificity: Expressed in small intestine, kidney and brain.

Evidence on tissue expression from TISSUES for RSC1A1 Gene

  • Nervous system(4.3)
  • Liver(2.5)
  • Intestine(2.3)
  • Muscle(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with RSC1A1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RSC1A1 Gene

Orthologs for RSC1A1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for RSC1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RSC1A1 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RSC1A1 34
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rsc1a1 33 16 34
  • 73.42 (n)
dog
(Canis familiaris)
Mammalia RSC1A1 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSC1A1 34
  • 46 (a)
OneToOne
Species where no ortholog for RSC1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for RSC1A1 Gene

ENSEMBL:
Gene Tree for RSC1A1 (if available)
TreeFam:
Gene Tree for RSC1A1 (if available)

Paralogs for RSC1A1 Gene

Pseudogenes.org Pseudogenes for RSC1A1 Gene

genes like me logo Genes that share paralogs with RSC1A1: view

No data available for Paralogs for RSC1A1 Gene

Variants for RSC1A1 Gene

Sequence variations from dbSNP and Humsavar for RSC1A1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000734015 -- 15,658,975(+) T/C upstream_transcript_variant
rs1001789695 -- 15,659,788(+) T/A 5_prime_UTR_variant
rs1002093915 -- 15,662,182(+) T/C downstream_transcript_variant
rs1002464433 -- 15,662,370(+) T/A downstream_transcript_variant
rs1003063573 -- 15,661,018(+) A/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RSC1A1 Gene

Variant ID Type Subtype PubMed ID
nsv1006877 CNV gain 25217958

Variation tolerance for RSC1A1 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.68; 82.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RSC1A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RSC1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSC1A1 Gene

Disorders for RSC1A1 Gene

Additional Disease Information for RSC1A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for RSC1A1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSC1A1 Gene

Publications for RSC1A1 Gene

  1. RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1. (PMID: 16788146) Veyhl M … Koepsell H (American journal of physiology. Renal physiology 2006) 3 4 22 58
  2. Transporter regulator RS1 (RSC1A1) coats the trans-Golgi network and migrates into the nucleus. (PMID: 16788147) Kroiss M … Koepsell H (American journal of physiology. Renal physiology 2006) 3 4 22 58
  3. Downregulation of the Na(+)- D-glucose cotransporter SGLT1 by protein RS1 (RSC1A1) is dependent on dynamin and protein kinase C. (PMID: 14724758) Veyhl M … Koepsell H (The Journal of membrane biology 2003) 3 4 22 58
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  5. Novel shuttling domain in a regulator (RSC1A1) of transporter SGLT1 steers cell cycle-dependent nuclear location. (PMID: 19765263) Filatova A … Koepsell H (Traffic (Copenhagen, Denmark) 2009) 3 22 58

Products for RSC1A1 Gene

Sources for RSC1A1 Gene

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