SLC10A1 (solute carrier family 10 member 1) - Rat Genome Database
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Gene: SLC10A1 (solute carrier family 10 member 1) Homo sapiens
Analyze
Symbol: SLC10A1
Name: solute carrier family 10 member 1
RGD ID: 737174
HGNC Page HGNC
Description: Predicted to have bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to localize to basolateral plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cell growth-inhibiting gene 29 protein; growth-inhibiting protein 29; Na(+)/bile acid cotransporter; Na(+)/taurocholate transport protein; Na/taurocholate cotransporting polypeptide; NTCP; sodium/bile acid cotransporter; sodium/taurocholate cotransporter; sodium/taurocholate cotransporting polypeptide; solute carrier family 10 (sodium/bile acid cotransporter family), member 1; solute carrier family 10 (sodium/bile acid cotransporter), member 1; solute carrier family 10, member 1
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
GRCh38.p13 Ensembl1469,775,416 - 69,797,241 (-)EnsemblGRCh38hg38GRCh38
GRCh381469,775,416 - 69,797,241 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371470,242,133 - 70,263,958 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371470,242,552 - 70,264,006 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361469,312,305 - 69,333,707 (-)NCBINCBI36hg18NCBI36
Build 341469,312,304 - 69,333,707NCBI
Celera1450,306,664 - 50,328,118 (-)NCBI
Cytogenetic Map14q24.1NCBI
HuRef1450,411,110 - 50,432,563 (-)NCBIHuRef
CHM1_11470,180,694 - 70,202,147 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
acadesine  (ISO)
acetamide  (ISO)
acetamides  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
AICA ribonucleotide  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
allyl alcohol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
atazanavir sulfate  (EXP)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
aztreonam  (ISO)
benzenesulfonates  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bosentan  (EXP,ISO)
bromosulfophthalein  (EXP)
buta-1,3-diene  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
cefalotin  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chlorpromazine  (ISO)
cholic acid  (EXP,ISO)
chrysophanol  (ISO)
ciprofibrate  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cocaine  (EXP)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
cyproconazole  (ISO)
daidzein  (EXP)
DDT  (EXP)
decabromodiphenyl ether  (ISO)
deoxycholic acid  (EXP,ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dichlorine  (ISO)
dieldrin  (EXP,ISO)
dihydroartemisinin  (ISO)
dioscin  (ISO)
doxycycline  (ISO)
emodin  (ISO)
endosulfan  (EXP)
enilconazole  (ISO)
epoxiconazole  (ISO)
estrone 3-sulfate  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
fusidic acid  (EXP)
gamma-hexachlorocyclohexane  (EXP)
Geniposide  (ISO)
genistein  (ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
guggulsterone  (ISO)
GW 4064  (ISO)
Heliotrine  (EXP)
heptachlor  (EXP,ISO)
ibuprofen  (ISO)
imipenem hydrate  (ISO)
indole-3-acetic acid  (EXP)
indoxyl sulfate  (EXP)
isoniazide  (ISO)
ketoconazole  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP,ISO)
lithocholic acid  (ISO)
macitentan  (EXP)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methoxsalen  (ISO)
methoxychlor  (ISO)
microcystin-LR  (ISO)
mirex  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-benzoylglycine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (EXP,ISO)
neomycin  (ISO)
nimesulide  (ISO)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
oleanolic acid  (ISO)
oltipraz  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (EXP,ISO)
perfluorodecanoic acid  (ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (ISO)
phenobarbital  (EXP,ISO)
physcion  (ISO)
piperazines  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (ISO)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
pyrrolidines  (ISO)
rifampicin  (EXP)
ritonavir  (EXP)
Ro 41-5253  (EXP)
senecionine  (ISO)
Senkirkine  (EXP)
serpentine asbestos  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium atom  (EXP)
sodium chloride  (ISO)
sodium dichromate  (ISO)
sulfoglycolithocholic acid  (EXP)
tamoxifen  (EXP,ISO)
taurocholic acid  (EXP,ISO)
Tesaglitazar  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
ticlopidine  (ISO)
Tolvaptan  (EXP)
trichloroethene  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
Yangonin  (ISO)
zaragozic acid A  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8132774   PMID:11031103   PMID:12044156   PMID:12477932   PMID:12663868   PMID:14660639   PMID:14701722   PMID:15489334   PMID:15604201   PMID:15922475   PMID:16027164   PMID:16123152  
PMID:16541252   PMID:17207965   PMID:17635184   PMID:18976975   PMID:19343046   PMID:19815625   PMID:20031551   PMID:20346360   PMID:20424473   PMID:20679960   PMID:20857261   PMID:21109590  
PMID:21341987   PMID:21873635   PMID:21988832   PMID:22029531   PMID:22098322   PMID:22744337   PMID:23150796   PMID:23815591   PMID:23886862   PMID:23930675   PMID:24342612   PMID:24361467  
PMID:24390325   PMID:24735529   PMID:25010264   PMID:25168282   PMID:25220493   PMID:25409679   PMID:25550158   PMID:25765005   PMID:25929767   PMID:25985569   PMID:26019035   PMID:26592202  
PMID:26642861   PMID:26865711   PMID:26968990   PMID:27051045   PMID:27278060   PMID:27384660   PMID:27491457   PMID:27783949   PMID:28125961   PMID:28429786   PMID:28635613   PMID:28835676  
PMID:29024779   PMID:29247233   PMID:29437961   PMID:29660219   PMID:29793953   PMID:29905807   PMID:30032030   PMID:30097692   PMID:30459339   PMID:30541857   PMID:30685591   PMID:30881922  
PMID:31117968   PMID:31177598   PMID:31179847   PMID:31574858   PMID:31661128   PMID:31746395   PMID:32296183   PMID:32450267  


Genomics

Comparative Map Data
SLC10A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1469,775,416 - 69,797,241 (-)EnsemblGRCh38hg38GRCh38
GRCh381469,775,416 - 69,797,241 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371470,242,133 - 70,263,958 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh371470,242,552 - 70,264,006 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361469,312,305 - 69,333,707 (-)NCBINCBI36hg18NCBI36
Build 341469,312,304 - 69,333,707NCBI
Celera1450,306,664 - 50,328,118 (-)NCBI
Cytogenetic Map14q24.1NCBI
HuRef1450,411,110 - 50,432,563 (-)NCBIHuRef
CHM1_11470,180,694 - 70,202,147 (-)NCBICHM1_1
Slc10a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391280,999,959 - 81,015,479 (-)NCBIGRCm39mm39
GRCm381280,953,185 - 80,968,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1280,953,183 - 80,968,705 (-)EnsemblGRCm38mm10GRCm38
MGSCv371282,054,172 - 82,069,066 (-)NCBIGRCm37mm9NCBIm37
MGSCv361281,874,340 - 81,886,832 (-)NCBImm8
Celera1282,418,707 - 82,433,538 (-)NCBICelera
Cytogenetic Map12D1NCBI
cM Map1237.21NCBI
Slc10a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26100,613,045 - 100,626,670 (-)NCBI
Rnor_6.0 Ensembl6104,617,730 - 104,631,355 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.06104,617,730 - 104,631,355 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06112,782,934 - 112,796,559 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46104,735,839 - 104,749,464 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16104,739,294 - 104,752,920 (-)NCBI
Celera698,468,708 - 98,482,340 (-)NCBICelera
Cytogenetic Map6q24NCBI
Slc10a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955466597,204 - 608,756 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955466597,081 - 609,254 (+)NCBIChiLan1.0ChiLan1.0
SLC10A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11469,240,602 - 69,261,904 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1469,240,602 - 69,261,904 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01450,369,663 - 50,390,984 (-)NCBIMhudiblu_PPA_v0panPan3
SLC10A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl843,521,747 - 43,546,274 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1843,521,291 - 43,546,426 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Slc10a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493649512,958,983 - 12,975,755 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC10A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl793,397,602 - 93,421,985 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1793,400,037 - 93,421,989 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2799,679,201 - 99,699,835 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC10A1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12447,018,237 - 47,034,360 (-)NCBI
ChlSab1.1 Ensembl2447,017,414 - 47,033,940 (-)Ensembl
Slc10a1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473431,287,539 - 31,307,339 (+)NCBI

Position Markers
D14S1317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,242,571 - 70,242,702UniSTSGRCh37
Build 361469,312,324 - 69,312,455RGDNCBI36
Celera1450,306,683 - 50,306,814RGD
Cytogenetic Map14q24.1UniSTS
HuRef1450,411,129 - 50,411,260UniSTS
TNG Radiation Hybrid Map1424467.0UniSTS
Stanford-G3 RH Map142520.0UniSTS
NCBI RH Map14665.8UniSTS
GeneMap99-G3 RH Map142568.0UniSTS
D14S1324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,242,616 - 70,242,823UniSTSGRCh37
Build 361469,312,369 - 69,312,576RGDNCBI36
Celera1450,306,728 - 50,306,935RGD
Cytogenetic Map14q24.1UniSTS
HuRef1450,411,174 - 50,411,381UniSTS
SLC10A1_2001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,242,367 - 70,243,077UniSTSGRCh37
Build 361469,312,120 - 69,312,830RGDNCBI36
Celera1450,306,479 - 50,307,189RGD
HuRef1450,410,925 - 50,411,635UniSTS
RH69025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371470,242,611 - 70,242,764UniSTSGRCh37
Build 361469,312,364 - 69,312,517RGDNCBI36
Celera1450,306,723 - 50,306,876RGD
Cytogenetic Map14q24.1UniSTS
HuRef1450,411,169 - 50,411,322UniSTS
GeneMap99-GB4 RH Map14176.86UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:290
Count of miRNA genes:262
Interacting mature miRNAs:269
Transcripts:ENST00000216540
Prediction methods:Miranda, Rnahybrid
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 adipose tissue appendage entire extraembryonic component
High 1 1 1
Medium 2 2 366 366 3 366 1
Low 29 115 98 65 250 58 31 10 199 11 260 55 8 17 18 1
Below cutoff 2152 2318 1176 178 1347 31 3526 1711 3002 242 1033 1344 156 1035 2218 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000216540   ⟹   ENSP00000216540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1469,775,416 - 69,797,241 (-)Ensembl
RefSeq Acc Id: NM_003049   ⟹   NP_003040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381469,775,416 - 69,797,241 (-)NCBI
GRCh371470,242,552 - 70,264,006 (-)ENTREZGENE
Build 361469,312,305 - 69,333,707 (-)NCBI Archive
HuRef1450,411,110 - 50,432,563 (-)ENTREZGENE
CHM1_11470,180,694 - 70,202,147 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003040   ⟸   NM_003049
- UniProtKB: Q14973 (UniProtKB/Swiss-Prot),   B2RA41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000216540   ⟸   ENST00000216540

Promoters
RGD ID:6791877
Promoter ID:HG_KWN:19673
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:NM_003049
Position:
Human AssemblyChrPosition (strand)Source
Build 361469,333,261 - 69,333,761 (-)MPROMDB
RGD ID:7228017
Promoter ID:EPDNEW_H19754
Type:initiation region
Name:SLC10A1_1
Description:solute carrier family 10 member 1
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
GRCh381469,797,241 - 69,797,301EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs) deletion not provided [RCV000729793] Chr14:69797118..69797122 [GRCh38]
Chr14:70263835..70263839 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.821T>C (p.Phe274Ser) single nucleotide variant not provided [RCV000729813] Chr14:69778455 [GRCh38]
Chr14:70245172 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.1030T>A (p.Cys344Ser) single nucleotide variant not provided [RCV000729552] Chr14:69776302 [GRCh38]
Chr14:70243019 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.583A>C (p.Ile195Leu) single nucleotide variant not provided [RCV000728460] Chr14:69779345 [GRCh38]
Chr14:70246062 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg) single nucleotide variant not provided [RCV000729082] Chr14:69776338 [GRCh38]
Chr14:70243055 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.453G>A (p.Lys151=) single nucleotide variant not specified [RCV000728784] Chr14:69786211 [GRCh38]
Chr14:70252928 [GRCh37]
Chr14:14q24.1
benign
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=) single nucleotide variant not provided [RCV000729189] Chr14:69786271 [GRCh38]
Chr14:70252988 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.106T>C (p.Phe36Leu) single nucleotide variant not provided [RCV000729202] Chr14:69797050 [GRCh38]
Chr14:70263767 [GRCh37]
Chr14:14q24.1
uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_003049.4(SLC10A1):c.868A>G (p.Met290Val) single nucleotide variant not provided [RCV000596872] Chr14:69778408 [GRCh38]
Chr14:70245125 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) single nucleotide variant not specified [RCV000596418] Chr14:69778476 [GRCh38]
Chr14:70245193 [GRCh37]
Chr14:14q24.1
benign
NM_003049.4(SLC10A1):c.589T>C (p.Leu197=) single nucleotide variant not provided [RCV000595960] Chr14:69779339 [GRCh38]
Chr14:70246056 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.745C>T (p.Arg249Trp) single nucleotide variant not provided [RCV000598486] Chr14:69779183 [GRCh38]
Chr14:70245900 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.746+5del deletion not provided [RCV000591784] Chr14:69779177 [GRCh38]
Chr14:70245894 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.836T>C (p.Ile279Thr) single nucleotide variant not provided [RCV000592304] Chr14:69778440 [GRCh38]
Chr14:70245157 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.481A>T (p.Ile161Leu) single nucleotide variant not provided [RCV000592005] Chr14:69786183 [GRCh38]
Chr14:70252900 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.359T>C (p.Ile120Thr) single nucleotide variant not provided [RCV000592020] Chr14:69786305 [GRCh38]
Chr14:70253022 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.437A>G (p.Tyr146Cys) single nucleotide variant not provided [RCV000592603] Chr14:69786227 [GRCh38]
Chr14:70252944 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg) single nucleotide variant not provided [RCV000592628] Chr14:69786147 [GRCh38]
Chr14:70252864 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.630G>A (p.Val210=) single nucleotide variant not provided [RCV000592629] Chr14:69779298 [GRCh38]
Chr14:70246015 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.340G>A (p.Gly114Arg) single nucleotide variant not provided [RCV000592939] Chr14:69796816 [GRCh38]
Chr14:70263533 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs) deletion not provided [RCV000598434] Chr14:69779263..69779264 [GRCh38]
Chr14:70245980..70245981 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.518G>C (p.Gly173Ala) single nucleotide variant not provided [RCV000593673] Chr14:69786146 [GRCh38]
Chr14:70252863 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.293G>A (p.Cys98Tyr) single nucleotide variant not provided [RCV000593889] Chr14:69796863 [GRCh38]
Chr14:70263580 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu) single nucleotide variant not provided [RCV000598178] Chr14:69779226 [GRCh38]
Chr14:70245943 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile) single nucleotide variant not provided [RCV000592044] Chr14:69776375 [GRCh38]
Chr14:70243092 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.109T>C (p.Phe37Leu) single nucleotide variant not provided [RCV000730024] Chr14:69797047 [GRCh38]
Chr14:70263764 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.472G>A (p.Gly158Ser) single nucleotide variant not provided [RCV000730609] Chr14:69786192 [GRCh38]
Chr14:70252909 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) single nucleotide variant not provided [RCV000730647] Chr14:69797024 [GRCh38]
Chr14:70263741 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.839G>T (p.Gly280Val) single nucleotide variant not provided [RCV000730649] Chr14:69778437 [GRCh38]
Chr14:70245154 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.16G>A (p.Ala6Thr) single nucleotide variant not provided [RCV000730272] Chr14:69797140 [GRCh38]
Chr14:70263857 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.432G>A (p.Gly144=) single nucleotide variant not provided [RCV000733759] Chr14:69786232 [GRCh38]
Chr14:70252949 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.812A>G (p.Asn271Ser) single nucleotide variant not provided [RCV000733761] Chr14:69778464 [GRCh38]
Chr14:70245181 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.147C>T (p.Ser49=) single nucleotide variant not provided [RCV000734303] Chr14:69797009 [GRCh38]
Chr14:70263726 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.746G>A (p.Arg249Gln) single nucleotide variant not provided [RCV000735030] Chr14:69779182 [GRCh38]
Chr14:70245899 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.178G>A (p.Gly60Arg) single nucleotide variant not provided [RCV000728357] Chr14:69796978 [GRCh38]
Chr14:70263695 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.61C>T (p.Arg21Cys) single nucleotide variant not provided [RCV000731268] Chr14:69797095 [GRCh38]
Chr14:70263812 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.587T>C (p.Leu196Pro) single nucleotide variant not provided [RCV000732145] Chr14:69779341 [GRCh38]
Chr14:70246058 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.846T>C (p.Leu282=) single nucleotide variant not provided [RCV000733084] Chr14:69778430 [GRCh38]
Chr14:70245147 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser) single nucleotide variant not provided [RCV000594151] Chr14:69778522 [GRCh38]
Chr14:70245239 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.515T>C (p.Ile172Thr) single nucleotide variant not provided [RCV000733185] Chr14:69786149 [GRCh38]
Chr14:70252866 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.553C>T (p.Arg185Cys) single nucleotide variant not provided [RCV000734406] Chr14:69786111 [GRCh38]
Chr14:70252828 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.599T>A (p.Val200Glu) single nucleotide variant not provided [RCV000728645] Chr14:69779329 [GRCh38]
Chr14:70246046 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.122C>T (p.Ser41Leu) single nucleotide variant not provided [RCV000733271] Chr14:69797034 [GRCh38]
Chr14:70263751 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.604G>A (p.Val202Ile) single nucleotide variant not provided [RCV000734504] Chr14:69779324 [GRCh38]
Chr14:70246041 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.778T>C (p.Cys260Arg) single nucleotide variant not provided [RCV000734517] Chr14:69778498 [GRCh38]
Chr14:70245215 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.541C>A (p.Pro181Thr) single nucleotide variant not provided [RCV000733901] Chr14:69786123 [GRCh38]
Chr14:70252840 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.767T>G (p.Met256Arg) single nucleotide variant not provided [RCV000734086] Chr14:69778509 [GRCh38]
Chr14:70245226 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.506C>T (p.Pro169Leu) single nucleotide variant not provided [RCV000734089] Chr14:69786158 [GRCh38]
Chr14:70252875 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.1024G>A (p.Glu342Lys) single nucleotide variant not provided [RCV000733521] Chr14:69776308 [GRCh38]
Chr14:70243025 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.512C>T (p.Thr171Ile) single nucleotide variant not provided [RCV000734186] Chr14:69786152 [GRCh38]
Chr14:70252869 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu) single nucleotide variant not provided [RCV000731581] Chr14:69778399 [GRCh38]
Chr14:70245116 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.343G>T (p.Asp115Tyr) single nucleotide variant not provided [RCV000733618] Chr14:69796813 [GRCh38]
Chr14:70263530 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=) single nucleotide variant not provided [RCV000734200] Chr14:69778340 [GRCh38]
Chr14:70245057 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.296C>T (p.Ser99Leu) single nucleotide variant not provided [RCV000730777] Chr14:69796860 [GRCh38]
Chr14:70263577 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=) single nucleotide variant not provided [RCV000732925] Chr14:69779355 [GRCh38]
Chr14:70246072 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.559G>C (p.Val187Leu) single nucleotide variant not provided [RCV000729270] Chr14:69786105 [GRCh38]
Chr14:70252822 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.869T>G (p.Met290Arg) single nucleotide variant not provided [RCV000730853] Chr14:69778407 [GRCh38]
Chr14:70245124 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.503T>C (p.Ile168Thr) single nucleotide variant not provided [RCV000730914] Chr14:69786161 [GRCh38]
Chr14:70252878 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.84C>T (p.Ser28=) single nucleotide variant not provided [RCV000729348] Chr14:69797072 [GRCh38]
Chr14:70263789 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.473G>A (p.Gly158Asp) single nucleotide variant not provided [RCV000734252] Chr14:69786191 [GRCh38]
Chr14:70252908 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.263T>C (p.Ile88Thr) single nucleotide variant not specified [RCV000734941] Chr14:69796893 [GRCh38]
Chr14:70263610 [GRCh37]
Chr14:14q24.1
likely benign
NM_003049.4(SLC10A1):c.606_607CA[1] (p.Thr203fs) microsatellite not provided [RCV000729544] Chr14:69779319..69779320 [GRCh38]
Chr14:70246036..70246037 [GRCh37]
Chr14:14q24.1
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003049.4(SLC10A1):c.85G>A (p.Val29Ile) single nucleotide variant not provided [RCV000594974] Chr14:69797071 [GRCh38]
Chr14:70263788 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.575T>G (p.Met192Arg) single nucleotide variant not provided [RCV000596828] Chr14:69779353 [GRCh38]
Chr14:70246070 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.189C>T (p.Ile63=) single nucleotide variant not provided [RCV000594310] Chr14:69796967 [GRCh38]
Chr14:70263684 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) single nucleotide variant not provided [RCV000594593] Chr14:69778521 [GRCh38]
Chr14:70245238 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter) single nucleotide variant not provided [RCV000597691] Chr14:69797052 [GRCh38]
Chr14:70263769 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.870G>A (p.Met290Ile) single nucleotide variant not provided [RCV000595674] Chr14:69778406 [GRCh38]
Chr14:70245123 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.343G>A (p.Asp115Asn) single nucleotide variant not provided [RCV000597630] Chr14:69796813 [GRCh38]
Chr14:70263530 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.907A>G (p.Ile303Val) single nucleotide variant not provided [RCV000596512] Chr14:69778369 [GRCh38]
Chr14:70245086 [GRCh37]
Chr14:14q24.1
uncertain significance
GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 copy number loss See cases [RCV000512344] Chr14:68035240..73568130 [GRCh37]
Chr14:14q24.1-24.2
likely pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003049.4(SLC10A1):c.668T>C (p.Ile223Thr) single nucleotide variant not provided [RCV000962326] Chr14:69779260 [GRCh38]
Chr14:70245977 [GRCh37]
Chr14:14q24.1
benign
NM_003049.4(SLC10A1):c.627T>C (p.Asn209=) single nucleotide variant not provided [RCV000965943] Chr14:69779301 [GRCh38]
Chr14:70246018 [GRCh37]
Chr14:14q24.1
benign
NM_003049.4(SLC10A1):c.224C>T (p.Thr75Met) single nucleotide variant not provided [RCV000995203] Chr14:69796932 [GRCh38]
Chr14:70263649 [GRCh37]
Chr14:14q24.1
uncertain significance
NM_003049.4(SLC10A1):c.746+7del deletion not provided [RCV000923821] Chr14:69779175 [GRCh38]
Chr14:70245892 [GRCh37]
Chr14:14q24.1
benign
NM_003049.4(SLC10A1):c.745C>A (p.Arg249=) single nucleotide variant not provided [RCV000906218] Chr14:69779183 [GRCh38]
Chr14:70245900 [GRCh37]
Chr14:14q24.1
benign
GRCh37/hg19 14q24.1-24.2(chr14:70102024-70330099)x3 copy number gain not provided [RCV001006648] Chr14:70102024..70330099 [GRCh37]
Chr14:14q24.1-24.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10905 AgrOrtholog
COSMIC SLC10A1 COSMIC
Ensembl Genes ENSG00000100652 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000216540 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216540 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1530.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100652 GTEx
HGNC ID HGNC:10905 ENTREZGENE
Human Proteome Map SLC10A1 Human Proteome Map
InterPro BilAc:Na_symport/Acr3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bilac:Na_transpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na+/solute_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC10A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6554 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6554 ENTREZGENE
OMIM 182396 OMIM
PANTHER PTHR10361 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10361:SF40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SBF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA317 PharmGKB, RGD
TIGRFAMs bass UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RA41 ENTREZGENE, UniProtKB/TrEMBL
  K7PFC0_HUMAN UniProtKB/TrEMBL
  NTCP_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B9EGB6 UniProtKB/Swiss-Prot
  Q2TU29 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC10A1  solute carrier family 10 member 1    solute carrier family 10 (sodium/bile acid cotransporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC10A1  solute carrier family 10 (sodium/bile acid cotransporter), member 1    solute carrier family 10 (sodium/bile acid cotransporter family), member 1  Symbol and/or name change 5135510 APPROVED