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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RSC1A1 Gene

protein-coding   GIFtS: 46
GCID: GC01P015986

regulatory solute carrier protein, family 1, member 1

  Search for RSC1A1
in our new
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Regulatory Solute Carrier Protein, Family 1, Member 11 2
RS11 2 5
Transporter Regulator RS12 3
Regulatory Solute Carrier Protein Family 1 Member 12
HRS11

External Ids:    HGNC: 104581   Entrez Gene: 62482   Ensembl: ENSG000002156957   OMIM: 6019665   UniProtKB: Q926813   

Export aliases for RSC1A1 gene to outside databases

Previous GC identifers: GC01P015342 GC01P015123 GC01P015232 GC01P015349 GC01P015307 GC01P015731 GC01P015817 GC01P014505


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RSCA1_HUMAN, Q92681
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RSC1A1 gene promoter:
         ER-alpha   USF1   FOXD1   Nkx2-5   Ik-3   HSF2   USF-1   IRF-7A   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRSC1A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RSC1A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RSC1A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36.1

RSC1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RSC1A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P015986:  view genomic region     (about GC identifiers)

Start:
15,986,364 bp from pter      End:
15,988,217 bp from pter
Size:
1,854 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RSCA1_HUMAN, Q92681 (See protein sequence)
Recommended Name: Regulatory solute carrier protein family 1 member 1  
Size: 617 amino acids; 66790 Da
Subunit: Interacts with YRDC (By similarity)
Subcellular location: Cell membrane. Nucleus. Golgi apparatus, trans-Golgi network. Note=Localizes at the inner side of
the plasma membrane
Secondary accessions: B2RBP5

Explore the universe of human proteins at neXtProt for RSC1A1: NX_Q92681

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92681

  • RSC1A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006502.1  
    ENSEMBL proteins: 
     ENSP00000341963  

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    Uscn Proteins for RSC1A1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IDA--


    RSC1A1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RSC1A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR015940 UBA/transl_elong_EF1B_N_euk

    Graphical View of Domain Structure for InterPro Entry Q92681

    ProtoNet protein and cluster: Q92681

    1 Blocks protein family: IPB000449 Ubiquitin-associated domain

    UniProtKB/Swiss-Prot: RSCA1_HUMAN, Q92681
    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
    Similarity: Contains 1 UBA domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: RSCA1_HUMAN, Q92681
    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

         Genatlas biochemistry entry for RSC1A1:
    regulatory solute carrier protein family 1,member 1,membrane-associated modulator of the sodium-glucose cotransport
    system

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008200ion channel inhibitor activity TAS8836035


    RSC1A1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for RSC1A1:
     Decreased mitotic index  Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-out Rsc1a1tm1Koep for RSC1A1
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rsc1a1):
     adipose tissue  behavior/neurological  digestive/alimentary  growth/size  homeostasis/metabolism 

    RSC1A1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RSC1A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for RSC1A1 (Q926813 ENSP000003419634) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAG1P546193I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    NAA38ENSP000002492994STRING: ENSP00000249299
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0006810transport TAS8836035
    GO:0050892intestinal absorption IEA--
    GO:0051051negative regulation of transport IDA2675563


    RSC1A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RSC1A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RSC1A1
    1 Novoseek chemical compound relationship for RSC1A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 10.4 3 11562363 (3)

    Search CenterWatch for drugs/clinical trials and news about RSC1A1 / RSCA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RSC1A1 gene: 
    NM_006511.1  

    Unigene Cluster for RSC1A1:

    Regulatory solute carrier protein, family 1, member 1
    Hs.239459  [show with all ESTs]
    Unigene Representative Sequence: NM_006511
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000345034(uc010obn.2)

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    Clone
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    1 DOTS entry:

    DT.40207652 

    24/39 AceView cDNA sequences (see all 39):

    BX282087 AI174890 CB118357 AW022594 BN000122 BQ344702 CB132209 BI003879 
    BQ900982 BC006011 BX090334 NM_006511 BE246849 BP356564 BX482682 AL707355 
    AI268381 BE093517 BM454852 AK057374 AL598343 BE720494 AW937766 H61016 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RSC1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RSC1A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RSC1A1

    SOURCE GeneReport for Unigene cluster: Hs.239459

    UniProtKB/Swiss-Prot: RSCA1_HUMAN, Q92681
    Tissue specificity: Expressed in small intestine, kidney and brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RSC1A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for RSC1A1 gene from 1/3 species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rsc1a11 , 5 regulatory solute carrier protein, family 1, member more1, 5 73.31(n)1
    58.25(a)1
      4 (74.70 cM)5
    699941  NM_023544.51  NP_076033.41 
     1416838515 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RSC1A1 gene

    RSC1A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RSC1A1
    PGOHUM00000249575


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/112 NCBI SNPs in RSC1A1 are shown (see all 112    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428715851,2
    --15984440(+) AAACAA/GTGCTT 2 -- int1 us2k10--------
    rs1149914211,2
    F,--15984586(+) GTCCTA/GATAAT 2 -- int1 us2k11Minor allele frequency- G:0.03WA 118
    rs1470035061,2
    --15984653(+) TTATTA/TTTTTT 2 -- int1 us2k10--------
    rs1928024451,2
    --15984979(+) ATGGTC/TGGGTG 2 -- us2k1 int10--------
    rs761578371,2
    C,--15984988(+) TGCGG-/TGGCTC 2 -- int1 us2k11Minor allele frequency- T:0.00CSA 2
    rs1848583781,2
    --15985032(+) GCGGGC/TGGATC 2 -- us2k1 int10--------
    rs1382159171,2
    --15985116(+) GTCGGA/GTGTGT 2 -- us2k1 int10--------
    rs1143157041,2
    F,--15985271(+) TCTTAC/GACTTA 2 -- int1 us2k11Minor allele frequency- G:0.03WA 118
    rs174487781,2
    C,F,H,--15985306(+) TGGATT/CGGTGG 2 -- int1 us2k130Minor allele frequency- C:0.40NA NS EA WA CSA 2899
    rs1158468191,2
    F,--15985371(+) GTCTTG/CTTTGG 2 -- int1 us2k11Minor allele frequency- C:0.02WA 118

    HapMap Linkage Disequilibrium report for RSC1A1 (15986364 - 15988217 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RSC1A1: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RSC1A1 for disorders           About MalaCards

    RSC1A1 for disorders           About GeneDecksing

    OMIM gene information: 601966    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: RSC1A1 (1 document)

    Export disorders for RSC1A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RSC1A1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with RSC1A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transporter regulator RS1 (RSC1A1) coats the trans-Golgi network and migrates into the nucleus. (PubMed id 16788147)1, 2, 9 Kroiss M....Koepsell H. (2006)
    2. RS1 (RSC1A1) regulates the exocytotic pathway of Na+-D-glucose cotransporter SGLT1. (PubMed id 16788146)1, 2, 9 Veyhl M.... Koepsell H. (2006)
    3. Downregulation of the Na(+)- D-glucose cotransporter SGLT1 by protein RS1 (RSC1A1) is dependent on dynamin and protein kinase C. (PubMed id 14724758)1, 2, 9 Veyhl M....Koepsell H. (2003)
    4. Tripeptides of RS1 (RSC1A1) inhibit a monosaccharide-dependent exocytotic pathway of Na+-D-glucose cotransporter SGLT1 with high affinity. (PubMed id 17686765)1, 2 Vernaleken A.... Koepsell H. (2007)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The human gene of a protein that modifies Na(+)-D-glucose co- transport. (PubMed id 8836035)1, 2 Lambotte S.... Koepsell H. (1996)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1 Flachsbart F....Nebel A. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6248 HGNC: 10458 AceView: RSC1A1andDDI2 Ensembl:ENSG00000215695 euGenes: HUgn6248
    ECgene: RSC1A1 H-InvDB: RSC1A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RSC1A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RSC1A1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
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    Patent Information for RSC1A1 gene:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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