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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

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    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_001145944.2NP_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:1461
      MFS; Major Facilitator Superfamily
    2. NM_001145945.2NP_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:42530
      MFS; Major Facilitator Superfamily
    3. NM_001145946.2NP_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:42579
      MFS_SLCO1C_OATP1C; Solute carrier organic anion transporter 1C subfamily of the Major Facilitator Superfamily of transporters
    4. NM_017435.5NP_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:42579
      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)