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    SLCO1C1 solute carrier organic anion transporter family member 1C1 [ Homo sapiens (human) ]

    Gene ID: 53919, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLCO1C1provided by HGNC
    Official Full Name
    solute carrier organic anion transporter family member 1C1provided by HGNC
    Primary source
    HGNC:HGNC:13819
    See related
    Ensembl:ENSG00000139155 MIM:613389; AllianceGenome:HGNC:13819
    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
    OATP1; OATPF; OATP-F; OATP14; OATP1C1; OATPRP5; OATP-RP5; SLC21A14
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 4.0), fat (RPKM 0.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p12.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (20695332..20753386)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (20573918..20631651)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20848266..20906320)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 3A Neighboring gene ubiquitin conjugating enzyme E2 L2 (pseudogene) Neighboring gene Sharpr-MPRA regulatory region 11298 Neighboring gene ubiquitin like with PHD and ring finger domains 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 13494 Neighboring gene Sharpr-MPRA regulatory region 7088 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:20915672-20916304 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:20921407-20922031 Neighboring gene SLCO1B3-SLCO1B7 readthrough Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:20974670-20975869 Neighboring gene solute carrier organic anion transporter family member 1B3 Neighboring gene putative solute carrier organic anion transporter family member 1B7 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:21226346-21227545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:21335031-21335532 Neighboring gene solute carrier organic anion transporter family member 1B1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:21367725-21368322 Neighboring gene uncharacterized LOC124903123

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: 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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    Related articles in PubMed

    1. Pharmacogenetics of the organic anion transporting polypeptide 1A2. Franke RM, et al. Pharmacogenomics, 2009 Mar. PMID 19290786, Free PMC Article
    2. Polymorphisms in the brain-specific thyroid hormone transporter OATP1C1 are associated with fatigue and depression in hypothyroid patients. van der Deure WM, et al. Clin Endocrinol (Oxf), 2008 Nov. PMID 18410547
    3. Cellular entry of thyroid hormones by organic anion transporting polypeptides. Hagenbuch B. Best Pract Res Clin Endocrinol Metab, 2007 Jun. PMID 17574004
    4. ABCC drug efflux pumps and organic anion uptake transporters in human gliomas and the blood-tumor barrier. Bronger H, et al. Cancer Res, 2005 Dec 15. PMID 16357150
    5. Thyroid hormone transporters in health and disease. Jansen J, et al. Thyroid, 2005 Aug. PMID 16131319

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains.
      Title: Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains.
    2. Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain.
      Title: Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain.
    3. Single nucleotide polymorphisms in ADAM17, IL23R and SLCO1C1 genes protect against infliximab failure in adults with Crohn's disease.
      Title: Single nucleotide polymorphisms in ADAM17, IL23R and SLCO1C1 genes protect against infliximab failure in adults with Crohn's disease.
    4. Deiodinases, organic anion transporter polypeptide polymorphisms and symptoms of anxiety and depression after ischemic stroke.
      Title: Deiodinases, organic anion transporter polypeptide polymorphisms and symptoms of anxiety and depression after ischemic stroke.
    5. Deiodinases, organic anion transporter polypeptide polymorphisms and ischemic stroke outcomes.
      Title: Deiodinases, organic anion transporter polypeptide polymorphisms and ischemic stroke outcomes.
    6. The genetic variant, rs3794271, located within the PDE3A-SLCO1C1 locus was analyzed for correlation with treatment response using both the EULAR classification criteria and absolute change in (Delta)DAS28 scores as outcome measures correlated with anti-TNF response in a large UK rheumatoid arthritis cohort.
      Title: Previously reported PDE3A-SLCO1C1 genetic variant does not correlate with anti-TNF response in a large UK rheumatoid arthritis cohort.
    7. We found a highly significant association between PDE3A-SLCO1C1 and the clinical response to TNF blockers
      Title: Association of the PDE3A-SLCO1C1 locus with the response to anti-TNF agents in psoriasis.
    8. The PDE3A-SLCO1C1 locus rs3794271 SNP showed a highly significant association with anti-TNF treatment response.
      Title: GWAS replication study confirms the association of PDE3A-SLCO1C1 with anti-TNF therapy response in rheumatoid arthritis.
    9. Compared with the adult cerebral cortex, mRNAs encoding OATP1A2, OATP1C1, OATP3A1 variant 2, OATP4A1, LAT2 and CD98 were reduced in fetal cortex at different gestational ages, whilst mRNAs encoding MCT8, MCT10, OATP3A1 variant 1 and LAT1 were similar.
      Title: The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation.
    10. The strong expression of MCT10 and OATP1C1 in the human hypothalamus indicates a possible role in the regulation of the hypothalamus-pituitary-thyroid axis.
      Title: Expression of thyroid hormone transporters in the human hypothalamus.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables bile acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables organic anion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sodium-independent organic anion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables thyroid hormone transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bile acid and bile salt transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of thyroid hormone generation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sodium-independent organic anion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thyroid hormone transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier organic anion transporter family member 1C1
    Names
    OAT-RP-5
    OATP-14
    organic anion transporter 1C1
    organic anion transporter F
    organic anion transporter polypeptide-related protein 5
    organic anion transporting polypeptide 14
    solute carrier family 21 (organic anion transporter), member 14
    solute carrier family 21 member 14
    thyroxine transporter

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001145944.2 → NP_001139416.1  solute carrier organic anion transporter family member 1C1 isoform 4

      See identical proteins and their annotated locations for NP_001139416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092491, AF205076, AF260704, AK294333
      Consensus CDS
      CCDS53759.1
      UniProtKB/Swiss-Prot
      Q9NYB5
      Related
      ENSP00000444527.1, ENST00000545102.1
      Conserved Domains (1) summary
      cl28910
      Location:1 → 461
      MFS; Major Facilitator Superfamily

    2. NM_001145945.2 → NP_001139417.1  solute carrier organic anion transporter family member 1C1 isoform 3

      See identical proteins and their annotated locations for NP_001139417.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092491, AF260704, AK296236, DA345251
      Consensus CDS
      CCDS53758.1
      UniProtKB/Swiss-Prot
      Q9NYB5
      Related
      ENSP00000438665.1, ENST00000540354.5
      Conserved Domains (1) summary
      cl28910
      Location:42 → 530
      MFS; Major Facilitator Superfamily

    3. NM_001145946.2 → NP_001139418.1  solute carrier organic anion transporter family member 1C1 isoform 1

      See identical proteins and their annotated locations for NP_001139418.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC092491, AF260704, AK303713, DA345251
      Consensus CDS
      CCDS53757.1
      UniProtKB/Swiss-Prot
      Q9NYB5
      Related
      ENSP00000444149.1, ENST00000545604.5
      Conserved Domains (1) summary
      cd17459
      Location:42 → 579
      MFS_SLCO1C_OATP1C; Solute carrier organic anion transporter 1C subfamily of the Major Facilitator Superfamily of transporters

    4. NM_017435.5 → NP_059131.1  solute carrier organic anion transporter family member 1C1 isoform 2

      See identical proteins and their annotated locations for NP_059131.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC092491, AF205076, AF260704
      Consensus CDS
      CCDS8683.1
      UniProtKB/Swiss-Prot
      B7Z251, B7Z3Q3, B7Z8P1, F5GZD6, Q5JPA4, Q9NYB5
      Related
      ENSP00000266509.2, ENST00000266509.7
      Conserved Domains (1) summary
      cd17459
      Location:42 → 579
      MFS_SLCO1C_OATP1C; Solute carrier organic anion transporter 1C subfamily of the Major Facilitator Superfamily of transporters

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      20695332..20753386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      20573918..20631651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYB5.1 GenPept UniProtKB/Swiss-Prot:Q9NYB5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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