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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]
SLCO1C1 (Solute Carrier Organic Anion Transporter Family Member 1C1) is a Protein Coding gene. Diseases associated with SLCO1C1 include Allan-Herndon-Dudley Syndrome and Hyperthyroidism. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of vitamins, nucleosides, and related molecules. Gene Ontology (GO) annotations related to this gene include transporter activity and transmembrane transporter activity. An important paralog of this gene is SLCO1B3.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH12J020695 | Promoter | 0.8 | EPDnew Ensembl | 256.4 | +14.3 | 14300 | 1.4 | REST | SLCO1C1 lnc-SLCO1C1-1 HSALNG0089745 SLCO1B3 HSALNG0089740 | |
GH12J020681 | Enhancer | 0.5 | Ensembl | 250.7 | -0.5 | -499 | 0.2 | CTCF MYC MAX RAD21 USF1 | SLCO1C1 lnc-SLCO1C1-2 piR-41525-121 HSALNG0089740 PDE3A | |
GH12J020626 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 11.1 | -53.1 | -53072 | 4.4 | CEBPA KDM6A FOXA2 SMAD4 MAFF SAP130 RXRA RARA TEAD3 THRB | SLCO1C1 PDE3A piR-38959-006 piR-52916-007 HSALNG0089740 | |
GH12J019694 | Enhancer | 0.7 | Ensembl ENCODE | 9.4 | -986.4 | -986442 | 1.7 | CEBPB MYC JUND ATF2 POLR2A ATF7 CEBPG | RNU1-146P SLCO1C1 LINC02398 HSALNG0089709 RF00003-019 AEBP2 PDE3A | |
GH12J020715 | Enhancer | 0.4 | Ensembl | 11 | +34.4 | 34401 | 0.8 | CTCF SPI1 RAD21 | SLCO1C1 RF00994-219 MK280144-106 SLCO1B3 HSALNG0089740 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0008514 | organic anion transmembrane transporter activity | IEA | -- |
GO:0015125 | bile acid transmembrane transporter activity | IBA | 21873635 |
GO:0015347 | sodium-independent organic anion transmembrane transporter activity | IBA | 21873635 |
GO:0015349 | thyroid hormone transmembrane transporter activity | IDA | 12351693 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | IDA | 18687783 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0015711 | organic anion transport | IEA | -- |
GO:0015721 | bile acid and bile salt transport | IBA | 21873635 |
GO:0043252 | sodium-independent organic anion transport | TAS | -- |
GO:0055085 | transmembrane transport | IDA | 12351693 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Probenecid | Approved, Investigational | Pharma | Inhibitor, Inhibition, Transporter, blocker | 45 | ||
Taurocholic acid | Approved, Experimental | Pharma | Transporter, substrate, inhibitor | 0 | ||
Levothyroxine | Approved | Pharma | Transporter, substrate | 0 | ||
Meclofenamic acid | Approved, Vet_approved | Pharma | Transporter, inhibitor | 2 | ||
Methotrexate | Approved | Pharma | Transporter, substrate | Folate antagonist,inhibits DFHR | 1874 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
TCA |
|
Inhibitor, Inhibition |
|
|
||
3',4'-Dihydrodiol |
|
|||||
4'-Hydroxydiclofenac |
|
64118-84-9 |
Compound | Action | Cas Number |
---|---|---|
Probenecid | 57-66-9 |
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: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLCO1C1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLCO1C1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLCO1C1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slco1c1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Slco1c1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLCO1C1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLCO1C1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLCO1C1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slco1c1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slco1c1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12238 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1414 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs12304500 | Benign: not provided | 20,740,175(+) |
G/T NM_001145944.1(SLCO1C1):c.1195-9G>T |
INTRON | |
rs144285413 | Benign: not provided | 20,723,234(+) |
C/T NM_001145944.1(SLCO1C1):c.812C>T (p.Ser271Phe) |
MISSENSE | |
rs147735206 | Benign: not provided | 20,740,325(+) |
A/G NM_001145944.1(SLCO1C1):c.1336A>G (p.Thr446Ala) |
MISSENSE | |
rs74471820 | Benign: not provided | 20,733,007(+) |
T/C NM_001145944.1(SLCO1C1):c.931T>C (p.Leu311=) |
SYNONYMOUS |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv779n106 | CNV | deletion | 24896259 |
esv2037706 | CNV | deletion | 18987734 |
esv24973 | CNV | gain | 19812545 |
esv2532269 | CNV | deletion | 19546169 |
esv2659248 | CNV | deletion | 23128226 |
esv2745622 | CNV | deletion | 23290073 |
esv3548860 | CNV | deletion | 23714750 |
esv3580174 | CNV | loss | 25503493 |
esv3580175 | CNV | loss | 25503493 |
esv3591 | CNV | loss | 18987735 |
esv3628788 | CNV | gain | 21293372 |
esv3628789 | CNV | loss | 21293372 |
esv7360 | CNV | loss | 19470904 |
esv990517 | CNV | deletion | 20482838 |
nsv1039951 | CNV | loss | 25217958 |
nsv1051454 | CNV | loss | 25217958 |
nsv1054997 | CNV | gain | 25217958 |
nsv1070515 | CNV | deletion | 25765185 |
nsv1159988 | CNV | duplication | 26073780 |
nsv523367 | CNV | loss | 19592680 |
nsv557704 | CNV | gain | 21841781 |
nsv635 | CNV | insertion | 18451855 |
nsv826279 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
allan-herndon-dudley syndrome |
|
|
hyperthyroidism |
|
|
fanconi-like syndrome |
|
|
chronic cholangitis |
|
|