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SLCO1C1 Gene

protein-coding   GIFtS: 57
GCID: GC12P020848

Solute Carrier Organic Anion Transporter Family, Member...

(Previous names: solute carrier family 21 (organic anion transporter), member...)
(Previous symbol: SLC21A14)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Organic Anion Transporter Family, Member 1C11 2     Thyroxine Transporter2 3
SLC21A141 2 3 5     OAT-RP-52 3
OATP142 3 5     OATP-142 3
OATPF2 3 5     OATP-F2 3
Solute Carrier Family 21 (Organic Anion Transporter), Member 141 2     OATP1C12 3
Organic Anion Transporter F2 3     OATPRP52 3
Organic Anion Transporter Polypeptide-Related Protein 52 3     OATP12
Organic Anion-Transporting Polypeptide 142 3     Organic Anion Transporting Polypeptide 142
Solute Carrier Family 21 Member 142 3     Solute Carrier Organic Anion Transporter Family Member 1C12

External Ids:    HGNC: 138191   Entrez Gene: 539192   Ensembl: ENSG000001391557   OMIM: 6133895   UniProtKB: Q9NYB53   

Export aliases for SLCO1C1 gene to outside databases

Previous GC identifers: GC12P020739 GC12P020620


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLCO1C1 Gene:
This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane
receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has
particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine.
Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients
suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Mar 2009)

GeneCards Summary for SLCO1C1 Gene:
SLCO1C1 (solute carrier organic anion transporter family, member 1C1) is a protein-coding gene. Diseases associated with SLCO1C1 include hyperthyroidism, and allan-herndon-dudley syndrome. GO annotations related to this gene include transporter activity. An important paralog of this gene is SLCO2A1.

UniProtKB/Swiss-Prot: SO1C1_HUMAN, Q9NYB5
Function: Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones
thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl
estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a
signifiant role in regulating T4 flux into and out of the brain (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_009714.18  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLCO1C1 gene promoter:
         RFX1   AML1a   MIF-1   HNF-3beta   C/EBPalpha   Evi-1   N-Myc   POU2F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLCO1C1 promoter sequence
   Search Chromatin IP Primers for SLCO1C1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLCO1C1


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

Entrez Gene cytogenetic band: 12p12.2   Ensembl cytogenetic band:  12p12.2   HGNC cytogenetic band: 12p12.2

SLCO1C1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLCO1C1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P020848:  view genomic region     (about GC identifiers)

Start:
20,848,289 bp from pter      End:
20,906,320 bp from pter
Size:
58,032 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SO1C1_HUMAN, Q9NYB5 (See protein sequence)
Recommended Name: Solute carrier organic anion transporter family member 1C1  
Size: 712 amino acids; 78696 Da
Secondary accessions: B7Z251 B7Z3Q3 B7Z8P1 F5GZD6 Q5JPA4
Alternative splicing: 4 isoforms:  Q9NYB5-1   Q9NYB5-2   Q9NYB5-3   Q9NYB5-4   (No experimental confirmation available. Ref.3 (BAH11737) sequence is in conflict in position: 559:S->F)

Explore the universe of human proteins at neXtProt for SLCO1C1: NX_Q9NYB5

Explore proteomics data for SLCO1C1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn146, Asn510, Asn520, Asn533

  • See SLCO1C1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001139416.1  NP_001139417.1  NP_001139418.1  NP_059131.1  

    ENSEMBL proteins: 
     ENSP00000437399   ENSP00000438665   ENSP00000266509   ENSP00000444527   ENSP00000444149  
     ENSP00000370964  
    Reactome Protein details: Q9NYB5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: OATP1C1
    SLCO family of organic anion transporting polypeptides

    4 InterPro protein domains:
     IPR002350 Kazal_dom
     IPR004156 OA_transporter
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9NYB5

    ProtoNet protein and cluster: Q9NYB5

    2 Blocks protein domains:
    IPB004156 Organic anion transporter polypeptide (OATP)
    IPB011497 Protease inhibitor


    UniProtKB/Swiss-Prot: SO1C1_HUMAN, Q9NYB5
    Similarity: Belongs to the organo anion transporter (TC 2.A.60) family
    Similarity: Contains 1 Kazal-like domain


    SLCO1C1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SO1C1_HUMAN, Q9NYB5
    Function: Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones
    thyroxine (T4) and rT3. Other potential substrates, such as triiodothyronine (T3), 17-beta-glucuronosyl
    estradiol, estrone-3-sulfate and sulfobromophthalein (BSP) are transported with much lower efficiency. May play a
    signifiant role in regulating T4 flux into and out of the brain (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005515protein binding ----
    GO:0022857transmembrane transporter activity ----
         
    SLCO1C1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slco1c1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  normal  reproductive system 

    SLCO1C1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slco1c1tm1.1Arte for SLCO1C1

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    SwitchGear 3'UTR luciferase reporter plasmidSLCO1C1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SO1C1_HUMAN, Q9NYB5: Cell membrane; Multi-pass membrane protein. Note=Expressed in both luminal and abluminal
    membranes of brain capillary endothelial cells. Localized to the apical membrane and basal surfaces of choroid
    plexus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SLCO1C1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SLCO1C1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transmembrane transport of small molecules0.47
    2Transport of vitamins, nucleosides, and related molecules
    Transport of organic anions0.00
    Transport of vitamins, nucleosides, and related molecules
    3Thyroid hormone signaling pathway
    Thyroid hormone signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLCO1C1
        Transport of organic anions


    1 Kegg Pathway  (Kegg details for SLCO1C1):
        Thyroid hormone signaling pathway


    SLCO1C1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLCO1C1
    Interactions:

        Search GeneGlobe Interaction Network for SLCO1C1

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

    2 Interacting proteins for SLCO1C1 (ENSP000002665094) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDZD3ENSP000003271074STRING: ENSP00000327107
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport ----
    GO:0043252sodium-independent organic anion transport TAS--
    GO:0055085transmembrane transport TAS--

    SLCO1C1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLCO1C1 (SO1C1)

    2 HMDB Compounds for SLCO1C1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Estrone sulfateConestoral (see all 12)481-97-0--
    Thyroxine(-)-Thyroxine (see all 33)51-48-9--

    Selected DrugBank Compounds for SLCO1C1 (see all 15)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Liotrix-- 8065-29-0transportersubstrate inhibitor15166123 12351693 18845642 10592235
    Levothyroxine(-)-Thyroxine (see all 13)51-48-9transportersubstrate12351693 18845642 10592235
    Conjugated EstrogensEstrogens (see all 10)438-67-5transportersubstrate inhibitor15166123 12351693
    DiclofenacDiclofenac Acid (see all 4)15307-86-5transporterinhibitor18845642 10592235
    LiothyronineL-Liothyronine (see all 5)6893-02-3transportersubstrate inhibitor15166123 12351693
    Meclofenamic acidAcide meclofenamique [INN-French] (see all 6)644-62-2transporterinhibitor18845642 10592235
    Phenytoin5,5-diphenylhydantoin (see all 13)57-41-0transporterinhibitor18845642 10592235
    Taurocholic Acid-- 81-24-3transportersubstrate inhibitor15166123 12351693
    Dextrothyroxine-- 51-49-0transporter--12351693
    Digoxin-- 20830-75-5transportersubstrate12351693

    6 IUPHAR Ligands for SLCO1C1 (OATP1C1)    About this table
    LigandTypeActionAffinityPubmed IDs
    [3H]estrone-3-sulphate
    NoneNone--
    [125I]thyroxine
    NoneNone--
    TCA
    InhibitorInhibition--
    [3H]BSP
    NoneNone--
    DPDPE
    InhibitorInhibition--
    probenecid
    InhibitorInhibition--

    3 PharmGKB related drug/compound annotations for SLCO1C1 gene    About this table
    Drug/compound PharmGKB Annotation
    Tumor necrosis factor alpha (TNF-alpha) inhibitorsCA  
    etanerceptCA  
    infliximabCA  



    SLCO1C1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLCO1C1 gene (4 alternative transcripts): 
    NM_001145944.1  NM_001145945.1  NM_001145946.1  NM_017435.4  

    Unigene Cluster for SLCO1C1:

    Solute carrier organic anion transporter family, member 1C1
    Hs.47261  [show with all ESTs]
    Unigene Representative Sequence: AL834209
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534996 ENST00000539415 ENST00000540354 ENST00000266509(uc001rei.3)
    ENST00000497911 ENST00000535609 ENST00000545102 ENST00000539443 ENST00000545604(uc010sii.2 uc010sij.2 uc009zip.3)
    ENST00000381552(uc010sik.2)
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    Additional mRNA sequence: 

    AF205076.1 AF260704.1 AK294333.1 AK296236.1 AK303713.1 AK308729.1 AL834209.1 BC022461.2 

    6 DOTS entries:

    DT.40236247  DT.100011468  DT.404870  DT.100653158  DT.121184752  DT.121184705 

    Selected AceView cDNA sequences (see all 34):

    AL533324 BX095641 AL834209 CR594946 AW021931 AF260704 BV182973 BX419409 
    BG205422 BG200582 BG207906 NM_017435 N57603 BX430994 BI552249 BI916410 
    BX453785 BC022461 BX430993 AF205076 BF447535 BI494410 AI671274 BI495909 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SLCO1C1    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
    SP1:                                -     -     -           -                                                                                 
    SP2:                                                                                                                                          
    SP3:                                -     -     -                                                                                             
    SP4:                                -                                                                                                         


    ECgene alternative splicing isoforms for SLCO1C1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLCO1C1 expression in normal human tissues (normalized intensities)      SLCO1C1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTGAAAGGT
    SLCO1C1 Expression
    About this image


    SLCO1C1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Mesencephalic Floor Plate
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    SLCO1C1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLCO1C1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.47261

    UniProtKB/Swiss-Prot: SO1C1_HUMAN, Q9NYB5
    Tissue specificity: Highly expressed in brain and in Leydig cells in testis. Detected in many brain regions with
    the exception of pons and cerebellum. Not strongly enriched in cerebral microvessels

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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for SLCO1C1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slco1c11 , 5 solute carrier organic anion transporter family, member more1, 5 84.25(n)1
    84.11(a)1
      6 (72.38 cM)5
    588071  NM_021471.21  NP_067446.11 
     1415243865 
    chicken
    (Gallus gallus)
    Aves SLCO1C11 solute carrier organic anion transporter family, member more 72.25(n)
    71.97(a)
      418186  NM_001039097.1  NP_001034186.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLCO1C16
    solute carrier organic anion transporter family, m...
    66(a)
    1 ↔ 1
    5(8441032-8473311)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia slco1c11 solute carrier organic anion transporter family, member more 65.71(n)
    67.62(a)
      100495559  XM_002943663.2  XP_002943709.2 
    zebrafish
    (Danio rerio)
    Actinopterygii slco1c11 solute carrier organic anion transporter family, member more 62.5(n)
    61.83(a)
      562772  NM_001044997.3  NP_001038462.2 


    ENSEMBL Gene Tree for SLCO1C1 (if available)
    TreeFam Gene Tree for SLCO1C1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLCO1C1 gene
    SLCO2A12  SLCO4C12  SLCO1B72  ENSG000002570622  SLCO1B32  SLCO3A12  SLCO2B12  SLCO5A12  
    SLCO1B12  SLCO6A12  SLCO1A22  ENSG000002570462  SLCO4A12  
    12 SIMAP similar genes for SLCO1C1 using alignment to 3 protein entries:     SO1C1_HUMAN (see all proteins):
    SLCO1B3    SLCO1B1    SLC21A8    SLCO1A2    LST3    SLCO1B7
    SLCO3A1    SLCO2B1    SLCO4C1    SLCO5A1    SLCO4A1    SLCO2A1

    SLCO1C1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLCO1C1 (see all 1412)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs352970841,2
    C--20742016(+) ATCTC-/AAAAAA 4 -- int11Minor allele frequency- A:0.50NA 2
    rs1910604521,2
    --20846326(+) CCTGGG/TAAGAT 2 -- us2k10--------
    rs1465440911,2
    C--20846329(+) GGGAAG/TATCAA 2 -- us2k10--------
    rs1832608361,2
    --20846488(+) CCCCCA/GGTACC 4 -- us2k10--------
    rs1397208411,2
    --20846520(+) AAAGAC/GAGTCT 4 -- us2k10--------
    rs726587601,2
    C,F--20846588(+) CTAGCG/ATTTTT 4 -- us2k15Minor allele frequency- A:0.14WA NA EA 362
    rs79620731,2
    C,H--20846596(+) tttttA/Tagtac 4 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs1497923071,2
    --20846703(+) AAACAC/TCAGGA 4 -- us2k10--------
    rs726587611,2
    C--20846900(+) TTAATT/ATACCA 4 -- us2k14Minor allele frequency- A:0.04WA NA EA 360
    rs780696431,2
    F--20846981(+) TGTCCC/GTTTAT 4 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for SLCO1C1 (20848289 - 20906320 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SLCO1C1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659248CNV Deletion23128226
    esv990517CNV Deletion20482838
    esv2532269CNV Deletion19546169
    esv2745622CNV Deletion23290073
    esv2037706CNV Deletion18987734
    esv3591CNV Deletion18987735
    nsv635CNV Insertion18451855
    esv7360CNV Loss19470904
    nsv826279CNV Loss20364138
    nsv523367CNV Loss19592680

    Human Gene Mutation Database (HGMD): SLCO1C1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLCO1C1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLCO1C1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613389    OMIM disorders: --

    12 diseases for SLCO1C1:    About MalaCards
    hyperthyroidism    allan-herndon-dudley syndrome    thyroiditis    choroiditis
    cholestasis    hypothyroidism    meningitis    endotheliitis
    cerebritis    rheumatoid arthritis    arthritis    retinitis

    1 disease from the University of Copenhagen DISEASES database for SLCO1C1:
    Cholestasis

    SLCO1C1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SLCO1C1
    Human Genome Epidemiology (HuGE) Navigator: SLCO1C1 (3 documents)

    Export disorders for SLCO1C1 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)
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    PubMed articles for SLCO1C1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with SLCO1C1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel human organic anion transporting polypeptide as a high affinity thyroxine transporter. (PubMed id 12351693)1, 2, 7 Pizzagalli F....Meier P.J. (Mol. Endocrinol. 2002)
    2. Thyroid hormone transport and metabolism by organic anion transporter 1C1 and consequences of genetic variation. (PubMed id 18566113)1, 4, 9 van der Deure W.M....Visser T.J. (Endocrinology 2008)
    3. Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier. (PubMed id 18687783)1, 2, 9 Roberts L.M.... Zerangue N. (Endocrinology 2008)
    4. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PubMed id 20881960)1, 4 Lango Allen H....Hirschhorn J.N. (Nature 2010)
    5. Competitive inhibition of organic anion transporting polypeptide 1c1-mediated thyroxine transport by the fenamate class of nonsteroidal antiinflammatory drugs. (PubMed id 18845642)1, 7 Westholm D.E....Anderson G.W. (Endocrinology 2009)
    6. Polymorphisms in the brain-specific thyroid hormone transporter OATP1C1 are associated with fatigue and depression in hypothyroid patients. (PubMed id 18410547)1, 4 van der Deure W.M....Fliers E. (Clin. Endocrinol. (Oxf) 2008)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. ABCC drug efflux pumps and organic anion uptake transporters in human gliomas and the blood-tumor barrier. (PubMed id 16357150)1, 9 Bronger H....Nies A.T. (Cancer Res. 2005)
    10. GWAS replication study confirms the association of PDE3A-SLCO1C1 with anti-TNF therapy response in rheumatoid arthritis. (PubMed id 23651021)1 Acosta-Colman I....Marsal S. (Pharmacogenomics 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 53919 HGNC: 13819 AceView: SLCO1C1 Ensembl:ENSG00000139155 euGenes: HUgn53919
    ECgene: SLCO1C1 Kegg: 53919 H-InvDB: SLCO1C1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SLCO1C1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLCO1C1 gene:
    Search GeneIP for patents involving SLCO1C1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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