SLCO1C1 (solute carrier organic anion transporter family member 1C1) - Rat Genome Database

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Gene: SLCO1C1 (solute carrier organic anion transporter family member 1C1) Homo sapiens
Analyze
Symbol: SLCO1C1
Name: solute carrier organic anion transporter family member 1C1
RGD ID: 731528
HGNC Page HGNC
Description: Enables thyroid hormone transmembrane transporter activity. Involved in positive regulation of thyroid hormone generation; thyroid hormone transport; and transmembrane transport. Located in basolateral plasma membrane. Part of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: OAT-RP-5; OATP-14; OATP-F; OATP1; OATP14; OATP1C1; OATPF; OATPRP5; organic anion transporter F; organic anion transporter polypeptide-related protein 5; organic anion transporting polypeptide 14; organic anion-transporting polypeptide 14; SLC21A14; solute carrier family 21 (organic anion transporter), member 14; solute carrier family 21 member 14; solute carrier organic anion transporter family, member 1C1; thyroxine transporter
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381220,695,332 - 20,753,386 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1220,695,332 - 20,753,386 (+)EnsemblGRCh38hg38GRCh38
GRCh371220,848,266 - 20,906,320 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,739,666 - 20,797,587 (+)NCBINCBI36hg18NCBI36
Build 341220,739,665 - 20,797,585NCBI
Celera1226,003,971 - 26,061,652 (+)NCBI
Cytogenetic Map12p12.2NCBI
HuRef1220,620,269 - 20,677,924 (+)NCBIHuRef
CHM1_11220,814,189 - 20,871,884 (+)NCBICHM1_1
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Transport of the sulfated, amidated bile acid, sulfolithocholyltaurine, into rat hepatocytes is mediated by Oatp1 and Oatp2. Meng LJ, etal., Hepatology 2002 May;35(5):1031-40.
3. Magnetic resonance imaging with hepatospecific contrast agents in cirrhotic rat livers. Planchamp C, etal., Invest Radiol. 2005 Apr;40(4):187-94.
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12351693   PMID:12477932   PMID:14579113   PMID:15489334   PMID:15553237   PMID:15652527   PMID:15667314   PMID:16131319   PMID:16344560   PMID:16357150   PMID:17574004   PMID:18391951  
PMID:18410547   PMID:18566113   PMID:18687783   PMID:18845642   PMID:19129463   PMID:19179441   PMID:19290786   PMID:20881960   PMID:21486766   PMID:21508134   PMID:21873635   PMID:22569225  
PMID:23137377   PMID:23651021   PMID:25403996   PMID:26590417   PMID:27180831   PMID:30280653   PMID:31586073   PMID:31677555   PMID:32807452  


Genomics

Comparative Map Data
SLCO1C1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381220,695,332 - 20,753,386 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1220,695,332 - 20,753,386 (+)EnsemblGRCh38hg38GRCh38
GRCh371220,848,266 - 20,906,320 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,739,666 - 20,797,587 (+)NCBINCBI36hg18NCBI36
Build 341220,739,665 - 20,797,585NCBI
Celera1226,003,971 - 26,061,652 (+)NCBI
Cytogenetic Map12p12.2NCBI
HuRef1220,620,269 - 20,677,924 (+)NCBIHuRef
CHM1_11220,814,189 - 20,871,884 (+)NCBICHM1_1
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
Slco1c1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396141,470,080 - 141,515,903 (+)NCBIGRCm39mm39
GRCm39 Ensembl6141,470,094 - 141,515,903 (+)Ensembl
GRCm386141,524,354 - 141,570,177 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6141,524,368 - 141,570,177 (+)EnsemblGRCm38mm10GRCm38
MGSCv376141,472,907 - 141,518,698 (+)NCBIGRCm37mm9NCBIm37
MGSCv366141,486,956 - 141,532,122 (+)NCBImm8
Celera6144,586,311 - 144,632,101 (+)NCBICelera
Cytogenetic Map6G2NCBI
Slco1c1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24174,466,621 - 174,513,290 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4174,466,631 - 174,513,289 (+)Ensembl
Rnor_6.04175,729,709 - 175,776,749 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4175,729,726 - 175,776,808 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04239,951,715 - 239,997,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44178,959,893 - 179,006,727 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14179,205,016 - 179,251,850 (+)NCBI
Celera4163,007,118 - 163,053,764 (+)NCBICelera
Cytogenetic Map4q44NCBI
Slco1c1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541316,654,618 - 16,705,720 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541316,654,655 - 16,705,638 (+)NCBIChiLan1.0ChiLan1.0
SLCO1C1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11221,079,431 - 21,136,631 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1221,079,437 - 21,136,631 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01220,698,207 - 20,755,434 (+)NCBIMhudiblu_PPA_v0panPan3
SLCO1C1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12726,497,639 - 26,553,790 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2726,498,292 - 26,553,314 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2719,902,986 - 19,958,946 (+)NCBI
ROS_Cfam_1.02726,823,633 - 26,879,842 (-)NCBI
ROS_Cfam_1.0 Ensembl2726,823,643 - 26,879,686 (-)Ensembl
UMICH_Zoey_3.12726,686,400 - 26,742,130 (-)NCBI
UNSW_CanFamBas_1.02726,671,581 - 26,727,757 (-)NCBI
UU_Cfam_GSD_1.02719,607,438 - 19,663,420 (+)NCBI
Slco1c1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494587,775,315 - 87,823,044 (-)NCBI
SpeTri2.0NW_0049365485,698,218 - 5,745,870 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLCO1C1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl552,230,398 - 52,315,026 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1552,234,396 - 52,315,311 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2555,511,431 - 55,592,551 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLCO1C1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11120,555,953 - 20,612,455 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1120,555,846 - 20,612,761 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606914,539,339 - 14,596,159 (-)NCBIVero_WHO_p1.0
Slco1c1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475217,720,716 - 17,765,561 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462475217,718,696 - 17,765,705 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH46261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371220,853,958 - 20,854,100UniSTSGRCh37
Build 361220,745,225 - 20,745,367RGDNCBI36
Celera1226,009,640 - 26,009,782RGD
Cytogenetic Map12p12.2UniSTS
HuRef1220,625,942 - 20,626,084UniSTS
GeneMap99-GB4 RH Map1274.81UniSTS
NCBI RH Map12199.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2315
Count of miRNA genes:783
Interacting mature miRNAs:896
Transcripts:ENST00000266509, ENST00000381552, ENST00000497911, ENST00000534996, ENST00000535609, ENST00000539415, ENST00000539443, ENST00000540354, ENST00000545102, ENST00000545604
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 56 1 1 7 1069 5
Low 468 686 759 62 75 19 1403 359 2366 83 448 803 45 783 870
Below cutoff 1838 1781 682 369 673 253 2750 1747 244 244 799 603 123 1 421 1847 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF260704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX641713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX641715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA345251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000266509   ⟹   ENSP00000266509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,332 - 20,753,386 (+)Ensembl
RefSeq Acc Id: ENST00000497911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,561 - 20,700,239 (+)Ensembl
RefSeq Acc Id: ENST00000534996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,355 - 20,696,975 (+)Ensembl
RefSeq Acc Id: ENST00000535609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,571 - 20,697,496 (+)Ensembl
RefSeq Acc Id: ENST00000539415   ⟹   ENSP00000437399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,431 - 20,752,696 (+)Ensembl
RefSeq Acc Id: ENST00000539443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,750 - 20,696,943 (+)Ensembl
RefSeq Acc Id: ENST00000540354   ⟹   ENSP00000438665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,462 - 20,752,817 (+)Ensembl
RefSeq Acc Id: ENST00000545102   ⟹   ENSP00000444527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,597 - 20,753,214 (+)Ensembl
RefSeq Acc Id: ENST00000545604   ⟹   ENSP00000444149
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,695,480 - 20,752,613 (+)Ensembl
RefSeq Acc Id: NM_001145944   ⟹   NP_001139416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,695,332 - 20,753,386 (+)NCBI
GRCh371220,848,289 - 20,906,320 (+)ENTREZGENE
HuRef1220,620,269 - 20,677,924 (+)ENTREZGENE
CHM1_11220,814,299 - 20,871,884 (+)NCBI
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145945   ⟹   NP_001139417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,695,332 - 20,753,386 (+)NCBI
GRCh371220,848,289 - 20,906,320 (+)ENTREZGENE
HuRef1220,620,269 - 20,677,924 (+)ENTREZGENE
CHM1_11220,814,189 - 20,871,884 (+)NCBI
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145946   ⟹   NP_001139418
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,695,332 - 20,753,386 (+)NCBI
GRCh371220,848,289 - 20,906,320 (+)ENTREZGENE
HuRef1220,620,269 - 20,677,924 (+)ENTREZGENE
CHM1_11220,814,189 - 20,871,884 (+)NCBI
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017435   ⟹   NP_059131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,695,332 - 20,753,386 (+)NCBI
GRCh371220,848,289 - 20,906,320 (+)ENTREZGENE
Build 361220,739,666 - 20,797,587 (+)NCBI Archive
HuRef1220,620,269 - 20,677,924 (+)ENTREZGENE
CHM1_11220,814,299 - 20,871,884 (+)NCBI
T2T-CHM13v2.01220,573,918 - 20,631,651 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001139418   ⟸   NM_001145946
- Peptide Label: isoform 1
- UniProtKB: Q9NYB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139417   ⟸   NM_001145945
- Peptide Label: isoform 3
- UniProtKB: Q9NYB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_059131   ⟸   NM_017435
- Peptide Label: isoform 2
- UniProtKB: Q9NYB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139416   ⟸   NM_001145944
- Peptide Label: isoform 4
- UniProtKB: Q9NYB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000266509   ⟸   ENST00000266509
RefSeq Acc Id: ENSP00000444527   ⟸   ENST00000545102
RefSeq Acc Id: ENSP00000444149   ⟸   ENST00000545604
RefSeq Acc Id: ENSP00000437399   ⟸   ENST00000539415
RefSeq Acc Id: ENSP00000438665   ⟸   ENST00000540354
Protein Domains
Kazal-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYB5-F1-model_v2 AlphaFold Q9NYB5 1-712 view protein structure

Promoters
RGD ID:7223375
Promoter ID:EPDNEW_H17433
Type:initiation region
Name:SLCO1C1_1
Description:solute carrier organic anion transporter family member 1C1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,695,480 - 20,695,540EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1		 pathogenic
NM_001145944.1(SLCO1C1):c.161C>T (p.Ser54Phe) single nucleotide variant Malignant melanoma [RCV000069928] Chr12:20711496 [GRCh38]
Chr12:20864430 [GRCh37]
Chr12:20755697 [NCBI36]
Chr12:12p12.2		 not provided
NM_001145944.1(SLCO1C1):c.254C>T (p.Pro85Leu) single nucleotide variant Malignant melanoma [RCV000069929] Chr12:20715217 [GRCh38]
Chr12:20868151 [GRCh37]
Chr12:20759418 [NCBI36]
Chr12:12p12.2		 not provided
NM_001145944.1(SLCO1C1):c.848C>T (p.Pro283Leu) single nucleotide variant Malignant melanoma [RCV000069930] Chr12:20732924 [GRCh38]
Chr12:20885858 [GRCh37]
Chr12:20777125 [NCBI36]
Chr12:12p12.2		 not provided
NM_001145944.1(SLCO1C1):c.1048C>T (p.His350Tyr) single nucleotide variant Malignant melanoma [RCV000062467] Chr12:20737126 [GRCh38]
Chr12:20890060 [GRCh37]
Chr12:20781327 [NCBI36]
Chr12:12p12.2		 not provided
NM_001145944.1(SLCO1C1):c.-84+2722A>T single nucleotide variant Lung cancer [RCV000110868] Chr12:20698529 [GRCh38]
Chr12:20851463 [GRCh37]
Chr12:12p12.2		 uncertain significance
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1		 likely pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899)x1 copy number loss See cases [RCV000446365] Chr12:19148014..21314899 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)x3 copy number gain See cases [RCV000448936] Chr12:19193233..21709479 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_017435.5(SLCO1C1):c.1549-9G>T single nucleotide variant not provided [RCV000881646] Chr12:20740175 [GRCh38]
Chr12:20893109 [GRCh37]
Chr12:12p12.2		 benign
NM_017435.5(SLCO1C1):c.1166C>T (p.Ser389Phe) single nucleotide variant not provided [RCV000973149] Chr12:20723234 [GRCh38]
Chr12:20876168 [GRCh37]
Chr12:12p12.2		 benign
NM_017435.5(SLCO1C1):c.1690A>G (p.Thr564Ala) single nucleotide variant not provided [RCV000968909] Chr12:20740325 [GRCh38]
Chr12:20893259 [GRCh37]
Chr12:12p12.2		 benign
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 copy number loss not provided [RCV000846444] Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_017435.5(SLCO1C1):c.1285T>C (p.Leu429=) single nucleotide variant not provided [RCV000889076] Chr12:20733007 [GRCh38]
Chr12:20885941 [GRCh37]
Chr12:12p12.2		 benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899) copy number loss not specified [RCV002052976] Chr12:19148014..21314899 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance
GRCh37/hg19 12p12.2(chr12:20838432-20957883) copy number loss not specified [RCV002052979] Chr12:20838432..20957883 [GRCh37]
Chr12:12p12.2		 uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:17884992-26704895) copy number gain not specified [RCV002052974] Chr12:17884992..26704895 [GRCh37]
Chr12:12p12.3-11.23		 pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479) copy number gain not specified [RCV002052977] Chr12:19193233..21709479 [GRCh37]
Chr12:12p12.3-12.1		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13819 AgrOrtholog
COSMIC SLCO1C1 COSMIC
Ensembl Genes ENSG00000139155 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000266509 ENTREZGENE
  ENSP00000266509.2 UniProtKB/Swiss-Prot
  ENSP00000437399.1 UniProtKB/TrEMBL
  ENSP00000438665 ENTREZGENE
  ENSP00000438665.1 UniProtKB/Swiss-Prot
  ENSP00000444149 ENTREZGENE
  ENSP00000444149.1 UniProtKB/Swiss-Prot
  ENSP00000444527 ENTREZGENE
  ENSP00000444527.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000266509 ENTREZGENE
  ENST00000266509.7 UniProtKB/Swiss-Prot
  ENST00000539415.5 UniProtKB/TrEMBL
  ENST00000540354 ENTREZGENE
  ENST00000540354.5 UniProtKB/Swiss-Prot
  ENST00000545102 ENTREZGENE
  ENST00000545102.1 UniProtKB/Swiss-Prot
  ENST00000545604 ENTREZGENE
  ENST00000545604.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1250.20 UniProtKB/Swiss-Prot
GTEx ENSG00000139155 GTEx
HGNC ID HGNC:13819 ENTREZGENE
Human Proteome Map SLCO1C1 Human Proteome Map
InterPro Kazal_dom UniProtKB/Swiss-Prot
  Kazal_dom_sf UniProtKB/Swiss-Prot
  MFS_dom UniProtKB/Swiss-Prot
  MFS_trans_sf UniProtKB/Swiss-Prot
  OATP UniProtKB/Swiss-Prot
  OATP1C1 UniProtKB/Swiss-Prot
KEGG Report hsa:53919 UniProtKB/Swiss-Prot
NCBI Gene 53919 ENTREZGENE
OMIM 613389 OMIM
PANTHER PTHR11388 UniProtKB/Swiss-Prot
  PTHR11388:SF99 UniProtKB/Swiss-Prot
Pfam Kazal_2 UniProtKB/Swiss-Prot
  OATP UniProtKB/Swiss-Prot
PharmGKB PA37815 PharmGKB
PROSITE KAZAL_2 UniProtKB/Swiss-Prot
  MFS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot
  SSF103473 UniProtKB/Swiss-Prot
TIGRFAMs oat UniProtKB/Swiss-Prot
UniProt F5H6S4_HUMAN UniProtKB/TrEMBL
  L8EC48_HUMAN UniProtKB/TrEMBL
  Q9NYB5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z251 UniProtKB/Swiss-Prot
  B7Z3Q3 UniProtKB/Swiss-Prot
  B7Z8P1 UniProtKB/Swiss-Prot
  F5GZD6 UniProtKB/Swiss-Prot
  Q5JPA4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SLCO1C1  solute carrier organic anion transporter family member 1C1    solute carrier organic anion transporter family, member 1C1  Symbol and/or name change 5135510 APPROVED
2011-08-17 SLCO1C1  solute carrier organic anion transporter family, member 1C1  SLCO1C1  solute carrier organic anion transporter family, member 1C1  Symbol and/or name change 5135510 APPROVED