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

Gene ID: 53919, updated on 2-Oct-2018

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; Vega:OTTHUMG00000168966
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; 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

Genomic context

See SLCO1C1 in Genome Data Viewer
Location:
12p12.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (20681800..20753386)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (20848289..20906320)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 3A Neighboring gene ubiquitin conjugating enzyme E2 L2 (pseudogene) Neighboring gene ubiquitin like with PHD and ring finger domains 1 pseudogene Neighboring gene solute carrier organic anion transporter family member 1B3 Neighboring gene solute carrier organic anion transporter family member 1B7 (putative)

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
bile acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-independent organic anion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thyroid hormone transmembrane transporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
bile acid and bile salt transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-independent organic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium-independent organic anion transport TAS
Traceable Author Statement
more info
 
thyroid hormone transport IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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)

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_001145944.1NP_001139416.1  solute carrier organic anion transporter family member 1C1 isoform 4

    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, OTTHUMP00000239829, ENST00000545102.1, OTTHUMT00000401768
    Conserved Domains (1) summary
    pfam03137
    Location:69520
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  2. NM_001145945.1NP_001139417.1  solute carrier organic anion transporter family member 1C1 isoform 3

    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, OTTHUMP00000239827, ENST00000540354.5, OTTHUMT00000401764
    Conserved Domains (2) summary
    cd01330
    Location:423476
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44589
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  3. NM_001145946.1NP_001139418.1  solute carrier organic anion transporter family member 1C1 isoform 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, OTTHUMP00000275001, ENST00000545604.5, OTTHUMT00000474423
    Conserved Domains (3) summary
    cd06174
    Location:48446
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:472525
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44638
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  4. NM_017435.4NP_059131.1  solute carrier organic anion transporter family member 1C1 isoform 2

    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
    Q9NYB5
    Related
    ENSP00000266509.2, OTTHUMP00000239828, ENST00000266509.6, OTTHUMT00000401765
    Conserved Domains (3) summary
    cd06174
    Location:48299
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:472525
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44638
    OATP; Organic Anion Transporter Polypeptide (OATP) family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    20681800..20753386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019489.2XP_016874978.1  solute carrier organic anion transporter family member 1C1 isoform X7

    Conserved Domains (3) summary
    cd06174
    Location:2261
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:287340
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:2453
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  2. XM_017019490.2XP_016874979.1  solute carrier organic anion transporter family member 1C1 isoform X7

    Conserved Domains (3) summary
    cd06174
    Location:2261
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:287340
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:2453
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  3. XM_017019486.2XP_016874975.1  solute carrier organic anion transporter family member 1C1 isoform X5

  4. XM_011520711.3XP_011519013.1  solute carrier organic anion transporter family member 1C1 isoform X6

    Conserved Domains (3) summary
    cd06174
    Location:16280
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:306359
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:21472
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  5. XM_005253396.3XP_005253453.1  solute carrier organic anion transporter family member 1C1 isoform X4

    UniProtKB/Swiss-Prot
    Q9NYB5
    Conserved Domains (1) summary
    pfam03137
    Location:69520
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  6. XM_017019487.2XP_016874976.1  solute carrier organic anion transporter family member 1C1 isoform X5

  7. XM_005253394.3XP_005253451.1  solute carrier organic anion transporter family member 1C1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NYB5
    Conserved Domains (3) summary
    cd06174
    Location:48299
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:472525
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44638
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  8. XM_011520703.3XP_011519005.1  solute carrier organic anion transporter family member 1C1 isoform X1

    Conserved Domains (3) summary
    cd06174
    Location:48446
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:472525
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44637
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  9. XM_011520704.3XP_011519006.1  solute carrier organic anion transporter family member 1C1 isoform X3

    Conserved Domains (3) summary
    cd06174
    Location:48299
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    cd01330
    Location:472525
    KAZAL_SLC21; The kazal-type serine protease inhibitor domain has been detected in an extracellular loop region of solute carrier 21 (SLC21) family members (organic anion transporters) , which may regulate the specificity of anion uptake. The KAZAL_SLC21 domain is a ...
    pfam03137
    Location:44637
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  10. XM_024449025.1XP_024304793.1  solute carrier organic anion transporter family member 1C1 isoform X4

    Conserved Domains (1) summary
    pfam03137
    Location:69520
    OATP; Organic Anion Transporter Polypeptide (OATP) family
  11. XM_024449024.1XP_024304792.1  solute carrier organic anion transporter family member 1C1 isoform X4

    Conserved Domains (1) summary
    pfam03137
    Location:69520
    OATP; Organic Anion Transporter Polypeptide (OATP) family

RNA

  1. XR_001748771.2 RNA Sequence

  2. XR_001748768.2 RNA Sequence

  3. XR_001748769.2 RNA Sequence

  4. XR_001748770.2 RNA Sequence

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