 Gene-Chemical Interaction Annotations | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations |
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Analyze GeneStrainQTL List |
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Gene Ontology AnnotationsMolecular Pathway AnnotationsDisease AnnotationsGene-Chemical Interaction Annotations
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Gene Ontology AnnotationsBiological Process
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Cellular Component
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Molecular Function
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Molecular Pathway AnnotationsReferences - curated| 1. | GOA_HUMAN data from the GO Consortium |
| 2. | Meng LJ, etal., Hepatology 2002 May;35(5):1031-40. |
| 3. | Planchamp C, etal., Invest Radiol. 2005 Apr;40(4):187-94. |
| 4. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 5. | RGD automated import pipeline for gene-chemical interactions |
References - uncurated| PubMed | 12351693 12477932 14579113 15489334 15553237 15652527 15667314 16131319 16344560 16357150 17574004 18391951 18410547 18566113 18687783 18845642 19129463 19179441 19290786 20881960 21486766 21508134 21873635 22569225 23651021 25403996 27180831 |
Genomics
Comparative Map Data| SLCO1C1 (Homo sapiens - human) |
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| Slco1c1 (Mus musculus - house mouse) |
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| Slco1c1 (Rattus norvegicus - Norway rat) |
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| Slco1c1 (Chinchilla lanigera - long-tailed chinchilla) |
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| SLCO1C1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| SLCO1C1 (Canis lupus familiaris - dog) |
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| Slco1c1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| SLCO1C1 (Sus scrofa - pig) |
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| SLCO1C1 (Chlorocebus sabaeus - green monkey) |
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| Slco1c1 (Heterocephalus glaber - naked mole-rat) |
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Position Markers| RH46261 |
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miRNA Target Status
Predicted Target Of
| 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. |
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Expression
RNA-SEQ ExpressionHigh: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM
| uterine cervix | nose | pituitary gland | peripheral nervous system | zone of skin | lymph node | large intestine | blood | breast | throat | mucosa | prefrontal cortex | testis | stomach | heart | brain | cerebral cortex | eye | ovary | uterus | adipose tissue | musculature | esophagus | saliva-secreting gland | rectum | skeletal muscle tissue | smooth muscle tissue | vermiform appendix | colon | sigmoid colon | renal pelvis | cortex of kidney | urinary bladder | pancreas | muscle of leg | nasal septum | tongue | skeletal muscle of trunk | temporal lobe | parietal lobe | caudate nucleus | putamen | globus pallidus | amygdala | forebrain | diencephalon | medulla oblongata | pineal body | placenta | occipital lobe | hindbrain | cerebellum | substantia nigra | thyroid gland | lung | left cardiac atrium | spleen | liver | small intestine | gall bladder | kidney | duodenum | pulmonary valve | locus ceruleus | spinal cord | dura mater | prostate gland | adrenal gland | bone marrow | tonsil | hematopoietic system | cartilage tissue | hippocampal formation | bone tissue | middle frontal gyrus | middle temporal gyrus | brain meninx | mouth mucosa | left kidney | dorsal thalamus | umbilical cord blood | frontal lobe | occipital cortex | left renal pelvis | right renal pelvis | proximal gut | terminal ileum | |
| High | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Medium | 2 | 1 | 29 | 1 | 5 | 2 | 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Low | 5 | 1 | 1 | 22 | 2 | 3 | 24 | 12 | 10 | 3 | 3 | 23 | 26 | 3 | 2 | 1 | 3 | 1 | 1 | 1 | 1 | 1 | 26 | 1 | 2 | 1 | 1 | 1 | 1 | 11 | 1 | 1 | 1 | 1 | 8 | 1 | 1 | 29 | 14 | 18 | 2 | 1 | 76 | 1 | 3 | 2 | 1 | 1 | 1 | 9 | 1 | 1 | 1 | 4 | 1 | 4 | 1 | 1 | 1 | ||||||||||||||||||||||||||||
| Below cutoff | 7 | 4 | 162 | 32 | 91 | 71 | 1 | 1 | 14 | 39 | 20 | 20 | 1 | 77 | 24 | 1 | 1 | 9 | 1 | 1 | 5 | 1 | 11 | 1 | 1 | 1 | 23 | 53 | 1 | 1 | 5 | 1 | 1 | 4 | 1 | 1 | 1 | 1 | 21 | 113 | 1 | 1 | 107 | 2 | 1 | 117 | 1 | 1 | 1 | 14 | 2 | 1 | 3 | 2 | 8 | 31 | 1 | 2 | 1 | 1 | 1 |
View RNA-SEQ Expression Data
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 | |
| DA345251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
| RefSeq Acc Id: | ENST00000266509 ⟹ ENSP00000266509 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000497911 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000534996 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000535609 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000539415 ⟹ ENSP00000437399 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000539443 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000540354 ⟹ ENSP00000438665 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000545102 ⟹ ENSP00000444527 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | ENST00000545604 ⟹ ENSP00000444149 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| RefSeq Acc Id: | NM_001145944 ⟹ NP_001139416 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAAAGAAATGGCTCAAAAGCTTCAGCTCTTTCTGTGCCCTGGGAGCTGAGATGCACGTCAGTGhide sequence |
| RefSeq Acc Id: | NM_001145945 ⟹ NP_001139417 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTTGTGTTTTCTGGGAATCAGCAAGTAAGATCACAAGTGGTCTTTTCTTTTATTCACTCTCTCChide sequence |
| RefSeq Acc Id: | NM_001145946 ⟹ NP_001139418 | ||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||
| Position: |
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| Sequence: |
GTTGTGTTTTCTGGGAATCAGCAAGTAAGATCACAAGTGGTCTTTTCTTTTATTCACTCTCTCChide sequence |
| RefSeq Acc Id: | NM_017435 ⟹ NP_059131 | |||||||||||||||||||||||||||||
| RefSeq Status: | REVIEWED | |||||||||||||||||||||||||||||
| Type: | CODING | |||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
GCAAAGAAATGGCTCAAAAGCTTCAGCTCTTTCTGTGCCCTGGGAGCTGAGATGCACGTCAGTGhide sequence |
| RefSeq Acc Id: | XM_005253394 ⟹ XP_005253451 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XM_005253396 ⟹ XP_005253453 | ||||||||||||||
| RefSeq Status: | |||||||||||||||
| Type: | CODING | ||||||||||||||
| Position: |
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| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_011520703 ⟹ XP_011519005 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XM_011520704 ⟹ XP_011519006 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XM_011520711 ⟹ XP_011519013 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_017019486 ⟹ XP_016874975 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_017019487 ⟹ XP_016874976 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_017019489 ⟹ XP_016874978 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_017019490 ⟹ XP_016874979 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
| RefSeq Acc Id: | XM_024449024 ⟹ XP_024304792 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
ACTTTCTTGGAGGAAAGGGTGAGATGCTAATTGGTATTTTGAGTTATAAATATGTAGAAGTATChide sequence |
| RefSeq Acc Id: | XM_024449025 ⟹ XP_024304793 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | CODING | |||||||||
| Position: |
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| Sequence: |
TCTACAGGAGAGGCAATTTTCTCAGAGCAATCAACAGTAAATTTTTCTCCCCAGGTGTTTGGTAhide sequence |
| RefSeq Acc Id: | XR_001748768 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XR_001748769 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XR_001748770 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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| Sequence: |
AAACCTTGATTGTGATTTCCAGTTTTTATTTTCTCTGACGTAGTAGAAAGGAATGTTTACATTAhide sequence |
| RefSeq Acc Id: | XR_001748771 | |||||||||
| RefSeq Status: | ||||||||||
| Type: | NON-CODING | |||||||||
| Position: |
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|||||||||
| Sequence: |
TTGATACTCACTTTCAATATTTTATTTCATATTATTATATATGTCATGATAGTTATCTTGATGThide sequence |
Protein Sequences| Protein RefSeqs | NP_001139416 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001139417 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_001139418 | (Get FASTA) | NCBI Sequence Viewer | |
| NP_059131 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005253451 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_005253453 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011519005 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011519006 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_011519013 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016874975 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016874976 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016874978 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_016874979 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024304792 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_024304793 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAF70338 | (Get FASTA) | NCBI Sequence Viewer |
| AAG42208 | (Get FASTA) | NCBI Sequence Viewer | |
| AAH22461 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH11737 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH12289 | (Get FASTA) | NCBI Sequence Viewer | |
| BAH14027 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD67738 | (Get FASTA) | NCBI Sequence Viewer | |
| CAD67739 | (Get FASTA) | NCBI Sequence Viewer | |
| CAI46209 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW96411 | (Get FASTA) | NCBI Sequence Viewer | |
| EAW96412 | (Get FASTA) | NCBI Sequence Viewer | |
| Q9NYB5 | (Get FASTA) | NCBI Sequence Viewer |
Reference Sequences
| RefSeq Acc Id: | NP_001139418 ⟸ NM_001145946 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | NP_001139417 ⟸ NM_001145945 |
| - Peptide Label: | isoform 3 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | NP_059131 ⟸ NM_017435 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | NP_001139416 ⟸ NM_001145944 |
| - Peptide Label: | isoform 4 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide sequence |
| RefSeq Acc Id: | XP_005253451 ⟸ XM_005253394 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | XP_005253453 ⟸ XM_005253396 |
| - Peptide Label: | isoform X4 |
| - UniProtKB: | Q9NYB5 (UniProtKB/Swiss-Prot) |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide sequence |
| RefSeq Acc Id: | XP_011519005 ⟸ XM_011520703 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | XP_011519006 ⟸ XM_011520704 |
| - Peptide Label: | isoform X3 |
| - Sequence: |
MDTSSKENIQLFCKTSVQPVGRPSFKTEYPSSEEKQPCCGELKVFLCALSFVYFAKALAEGYLKhide sequence |
| RefSeq Acc Id: | XP_011519013 ⟸ XM_011520711 |
| - Peptide Label: | isoform X6 |
| - Sequence: |
MEKSKSKISNECEVDTSSSMWIYVFLGNLLRGIGETPIQPLGIAYLDDFASEDNAAFYIGCVQThide sequence |
| RefSeq Acc Id: | XP_016874978 ⟸ XM_017019489 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MWIYVFLGNLLRGIGETPIQPLGIAYLDDFASEDNAAFYIGCVQTVAIIGPIFGFLLGSLCAKLhide sequence |
| RefSeq Acc Id: | XP_016874979 ⟸ XM_017019490 |
| - Peptide Label: | isoform X7 |
| - Sequence: |
MWIYVFLGNLLRGIGETPIQPLGIAYLDDFASEDNAAFYIGCVQTVAIIGPIFGFLLGSLCAKLhide sequence |
| RefSeq Acc Id: | XP_016874975 ⟸ XM_017019486 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide sequence |
| RefSeq Acc Id: | XP_016874976 ⟸ XM_017019487 |
| - Peptide Label: | isoform X5 |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide sequence |
| RefSeq Acc Id: | XP_024304793 ⟸ XM_024449025 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide sequence |
| RefSeq Acc Id: | XP_024304792 ⟸ XM_024449024 |
| - Peptide Label: | isoform X4 |
| - Sequence: |
MGVGTLLIAMPQFFMEQYKYERYSPSSNSTLSISPCLLESSSQLPVSVMEKSKSKISNECEVDThide 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
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: |
|
Clinical Variants| Name | Type | Condition(s) | Position(s) | Clinical significance |
| GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 | copy number loss | Global developmental delay [RCV000052776]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052782]|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 | Global developmental delay [RCV000053660]|Coarse facial features [RCV000053661]|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 | Corpus callosum agenesis [RCV000053662]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053666]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053666]|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 |
| Single allele | copy number gain | See cases [RCV000258805] | Chr12:1..133851895 [GRCh37] | 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_001145944.1(SLCO1C1):c.1195-9G>T | single nucleotide variant | not provided [RCV000881646] | Chr12:20740175 [GRCh38] Chr12:20893109 [GRCh37] Chr12:12p12.2 |
benign |
| NM_001145944.1(SLCO1C1):c.812C>T (p.Ser271Phe) | single nucleotide variant | not provided [RCV000973149] | Chr12:20723234 [GRCh38] Chr12:20876168 [GRCh37] Chr12:12p12.2 |
benign |
| NM_001145944.1(SLCO1C1):c.1336A>G (p.Thr446Ala) | 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 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_001145944.1(SLCO1C1):c.931T>C (p.Leu311=) | single nucleotide variant | not provided [RCV000889076] | Chr12:20733007 [GRCh38] Chr12:20885941 [GRCh37] Chr12:12p12.2 |
benign |
Additional Information
External Database Links| Database | Acc Id | Source(s) |
| AGR Gene | HGNC:13819 | AgrOrtholog |
| COSMIC | SLCO1C1 | COSMIC |
| Ensembl Genes | ENSG00000139155 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Protein | ENSP00000266509 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENSP00000437399 | UniProtKB/TrEMBL | |
| ENSP00000438665 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000444149 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENSP00000444527 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| Ensembl Transcript | ENST00000266509 | ENTREZGENE, UniProtKB/Swiss-Prot |
| ENST00000539415 | UniProtKB/TrEMBL | |
| ENST00000540354 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000545102 | ENTREZGENE, UniProtKB/Swiss-Prot | |
| ENST00000545604 | ENTREZGENE, 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 |
| UniGene | Hs.47261 | ENTREZGENE |
| 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 |
 |
| More on SLCO1C1 | |
|
Alliance Gene |
|
NCBI Gene |
|
Ensembl Gene |
|
|
JBrowse: hg19 hg38 |
|
HGNC Report |
|
NCBI Genome Data Viewer |
| RGD Object Information | |
| RGD ID: | 731528 |
| Created: | 2004-01-12 |
| Species: | Homo sapiens |
| Last Modified: | 2019-12-25 |
| Status: | ACTIVE |
