SLC23A1 (solute carrier family 23 member 1) - Rat Genome Database

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Gene: SLC23A1 (solute carrier family 23 member 1) Homo sapiens
Analyze
Symbol: SLC23A1
Name: solute carrier family 23 member 1
RGD ID: 1342862
HGNC Page HGNC
Description: Enables L-ascorbate:sodium symporter activity; L-ascorbic acid transmembrane transporter activity; and dehydroascorbic acid transmembrane transporter activity. Involved in organic anion transport; response to toxic substance; and sodium ion transport. Located in apical plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: hSVCT1; MGC22361; Na(+)/L-ascorbic acid transporter 1; SLC23A2; sodium-dependent vitamin C transporter 1; sodium-dependent vitamin C transporter-1; solute carrier family 23 (ascorbic acid transporter), member 1; solute carrier family 23 (nucleobase transporters), member 1; solute carrier family 23 (nucleobase transporters), member 2; SVCT1; yolk sac permease-like molecule 3; YSPL3
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 Ensembl5139,367,196 - 139,384,553 (-)EnsemblGRCh38hg38GRCh38
GRCh385139,367,196 - 139,384,553 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375138,702,885 - 138,718,986 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,730,787 - 138,746,900 (-)NCBINCBI36hg18NCBI36
Build 345138,730,787 - 138,746,900NCBI
Celera5134,824,593 - 134,840,618 (-)NCBI
Cytogenetic Map5q31.2NCBI
HuRef5133,892,618 - 133,908,788 (-)NCBIHuRef
CHM1_15138,135,498 - 138,151,676 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
epoxiconazole  (ISO)
flutamide  (ISO)
L-ascorbic acid  (EXP,ISO)
L-ethionine  (ISO)
methapyrilene  (EXP)
N-nitrosodimethylamine  (ISO)
O-methyleugenol  (EXP)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentanal  (EXP)
pentane-2,3-dione  (ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
pravastatin  (ISO)
progesterone  (ISO)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rotenone  (ISO)
silicon dioxide  (EXP)
taurocholic acid  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
Triptolide  (ISO)
tunicamycin  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
zaragozic acid A  (ISO)

References

Additional References at PubMed
PMID:9804989   PMID:10395795   PMID:10471399   PMID:10556483   PMID:10556521   PMID:10631088   PMID:11396616   PMID:11584081   PMID:11895172   PMID:11984580   PMID:12381735   PMID:12388072  
PMID:12477932   PMID:14702039   PMID:15084584   PMID:15489334   PMID:15993839   PMID:16344560   PMID:16357110   PMID:17008880   PMID:17258485   PMID:17474147   PMID:17575980   PMID:17664139  
PMID:18094143   PMID:18247577   PMID:18417304   PMID:18619416   PMID:18636124   PMID:18676680   PMID:18791929   PMID:18818748   PMID:18845575   PMID:19019335   PMID:19056867   PMID:19170196  
PMID:19216494   PMID:19243932   PMID:19379732   PMID:19527514   PMID:19625176   PMID:19692168   PMID:19741195   PMID:20453000   PMID:20471816   PMID:20519558   PMID:20588054   PMID:21733302  
PMID:21873635   PMID:22348976   PMID:22990596   PMID:23014846   PMID:23599041   PMID:23613229   PMID:23837633   PMID:24284447   PMID:24708273   PMID:24815519   PMID:25416956   PMID:25527764  
PMID:25933589   PMID:27932501   PMID:29892012   PMID:30616065   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
SLC23A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5139,367,196 - 139,384,553 (-)EnsemblGRCh38hg38GRCh38
GRCh385139,367,196 - 139,384,553 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375138,702,885 - 138,718,986 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365138,730,787 - 138,746,900 (-)NCBINCBI36hg18NCBI36
Build 345138,730,787 - 138,746,900NCBI
Celera5134,824,593 - 134,840,618 (-)NCBI
Cytogenetic Map5q31.2NCBI
HuRef5133,892,618 - 133,908,788 (-)NCBIHuRef
CHM1_15138,135,498 - 138,151,676 (-)NCBICHM1_1
Slc23a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391835,747,657 - 35,762,900 (-)NCBIGRCm39mm39
GRCm39 Ensembl1835,747,657 - 35,760,297 (-)Ensembl
GRCm381835,604,224 - 35,629,845 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1835,614,604 - 35,627,244 (-)EnsemblGRCm38mm10GRCm38
MGSCv371835,774,258 - 35,786,881 (-)NCBIGRCm37mm9NCBIm37
MGSCv361835,740,578 - 35,753,192 (-)NCBImm8
MGSCv361835,794,115 - 35,806,597 (-)NCBImm8
Celera1836,070,745 - 36,083,392 (-)NCBICelera
Cytogenetic Map18B2NCBI
cM Map1819.17NCBI
Slc23a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21827,214,940 - 27,230,564 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1827,216,281 - 27,230,697 (-)Ensembl
Rnor_6.01828,413,910 - 28,428,133 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1828,414,009 - 28,428,117 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01828,127,118 - 28,141,110 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41828,238,953 - 28,250,889 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11828,265,423 - 28,277,535 (-)NCBI
Celera1826,950,004 - 26,961,940 (-)NCBICelera
Cytogenetic Map18p11NCBI
Slc23a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554181,176,000 - 1,186,940 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554181,176,390 - 1,192,270 (+)NCBIChiLan1.0ChiLan1.0
SLC23A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15140,859,975 - 140,877,214 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5140,859,984 - 140,877,214 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05134,737,344 - 134,756,153 (-)NCBIMhudiblu_PPA_v0panPan3
SLC23A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1234,694,064 - 34,708,498 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl234,698,838 - 34,708,412 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha231,801,133 - 31,809,319 (-)NCBI
ROS_Cfam_1.0235,148,002 - 35,162,589 (-)NCBI
UMICH_Zoey_3.1232,205,366 - 32,213,552 (-)NCBI
UNSW_CanFamBas_1.0233,071,664 - 33,079,850 (-)NCBI
UU_Cfam_GSD_1.0233,823,283 - 33,831,469 (-)NCBI
Slc23a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213153,138,372 - 153,159,132 (+)NCBI
SpeTri2.0NW_0049365318,457,779 - 8,471,244 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC23A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2141,258,323 - 141,276,442 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12141,258,318 - 141,277,555 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22147,081,831 - 147,107,402 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC23A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12342,040,163 - 42,056,593 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2342,044,590 - 42,055,831 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603435,832,046 - 35,861,341 (+)NCBIVero_WHO_p1.0
Slc23a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474332,169,051 - 32,186,618 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
bac51505T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,705,295 - 138,705,469UniSTSGRCh37
Build 365138,733,194 - 138,733,368RGDNCBI36
Celera5134,827,006 - 134,827,180RGD
Cytogenetic Map5q31.2UniSTS
HuRef5133,895,031 - 133,895,205UniSTS
SLC23A1_2967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375138,702,834 - 138,703,372UniSTSGRCh37
Build 365138,730,733 - 138,731,271RGDNCBI36
Celera5134,824,542 - 134,825,080RGD
HuRef5133,892,567 - 133,893,105UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1927
Count of miRNA genes:817
Interacting mature miRNAs:993
Transcripts:ENST00000348729, ENST00000353963, ENST00000502863, ENST00000503919, ENST00000504513, ENST00000506512, ENST00000508270
Prediction methods:Microtar, 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
Medium 135 1 306 306 184 306 1 5 127 79 17 1
Low 1016 494 998 301 1088 147 2318 239 1400 204 1004 1169 158 530 1290 1
Below cutoff 1273 2462 409 13 650 9 1978 1898 2260 85 352 376 12 673 1470 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC135457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF098277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF170911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF375875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI478520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ269477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA385445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348729   ⟹   ENSP00000302701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,367,196 - 139,383,297 (-)Ensembl
RefSeq Acc Id: ENST00000353963   ⟹   ENSP00000302851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,367,196 - 139,383,292 (-)Ensembl
RefSeq Acc Id: ENST00000502863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,380,826 - 139,382,413 (-)Ensembl
RefSeq Acc Id: ENST00000503919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,380,598 - 139,383,301 (-)Ensembl
RefSeq Acc Id: ENST00000504513   ⟹   ENSP00000422688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,378,591 - 139,380,607 (-)Ensembl
RefSeq Acc Id: ENST00000506512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,379,331 - 139,380,213 (-)Ensembl
RefSeq Acc Id: ENST00000508270   ⟹   ENSP00000427271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5139,381,913 - 139,384,553 (-)Ensembl
RefSeq Acc Id: NM_005847   ⟹   NP_005838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,383,297 (-)NCBI
GRCh375138,702,885 - 138,720,632 (-)NCBI
Build 365138,730,787 - 138,746,900 (-)NCBI Archive
HuRef5133,892,618 - 133,908,788 (-)ENTREZGENE
CHM1_15138,135,498 - 138,151,676 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152685   ⟹   NP_689898
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,383,297 (-)NCBI
GRCh375138,702,885 - 138,720,632 (-)NCBI
Build 365138,730,787 - 138,746,900 (-)NCBI Archive
HuRef5133,892,618 - 133,908,788 (-)ENTREZGENE
CHM1_15138,135,498 - 138,151,676 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272148   ⟹   XP_005272205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,553 (-)NCBI
GRCh375138,702,885 - 138,720,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272149   ⟹   XP_005272206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,486 (-)NCBI
GRCh375138,702,885 - 138,720,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714741   ⟹   XP_006714804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543765   ⟹   XP_011542067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,371,039 - 139,384,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543766   ⟹   XP_011542068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543767   ⟹   XP_011542069
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,553 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543768   ⟹   XP_011542070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,383,301 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543769   ⟹   XP_011542071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,367,196 - 139,384,553 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005838   ⟸   NM_005847
- Peptide Label: isoform a
- UniProtKB: Q9UHI7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_689898   ⟸   NM_152685
- Peptide Label: isoform b
- UniProtKB: Q9UHI7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272206   ⟸   XM_005272149
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005272205   ⟸   XM_005272148
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006714804   ⟸   XM_006714741
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542071   ⟸   XM_011543769
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011542068   ⟸   XM_011543766
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011542069   ⟸   XM_011543767
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011542070   ⟸   XM_011543768
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011542067   ⟸   XM_011543765
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000422688   ⟸   ENST00000504513
RefSeq Acc Id: ENSP00000302701   ⟸   ENST00000348729
RefSeq Acc Id: ENSP00000427271   ⟸   ENST00000508270
RefSeq Acc Id: ENSP00000302851   ⟸   ENST00000353963

Promoters
RGD ID:6812825
Promoter ID:HG_ACW:65504
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC23A1.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365138,746,031 - 138,746,531 (-)MPROMDB
RGD ID:6803561
Promoter ID:HG_KWN:51235
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:ENST00000339881,   OTTHUMT00000251321,   OTTHUMT00000251322
Position:
Human AssemblyChrPosition (strand)Source
Build 365138,746,944 - 138,747,444 (-)MPROMDB
RGD ID:6812824
Promoter ID:HG_ACW:65505
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC23A1.AAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365138,748,791 - 138,749,291 (-)MPROMDB
RGD ID:6870742
Promoter ID:EPDNEW_H8536
Type:initiation region
Name:SLC23A1_1
Description:solute carrier family 23 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8537  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,383,297 - 139,383,357EPDNEW
RGD ID:6870744
Promoter ID:EPDNEW_H8537
Type:initiation region
Name:SLC23A1_2
Description:solute carrier family 23 member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H8536  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385139,389,890 - 139,389,950EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2(chr5:139151411-139493628)x3 copy number gain See cases [RCV000051862] Chr5:139151411..139493628 [GRCh38]
Chr5:138487100..138873213 [GRCh37]
Chr5:138514999..138853397 [NCBI36]
Chr5:5q31.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q31.2(chr5:138738648-139442996)x1 copy number loss See cases [RCV000052579] Chr5:138738648..139442996 [GRCh38]
Chr5:138074337..138778685 [GRCh37]
Chr5:138102236..138806584 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_005847.4(SLC23A1):c.1113G>A (p.Gly371=) single nucleotide variant Malignant melanoma [RCV000066649] Chr5:139378645 [GRCh38]
Chr5:138714334 [GRCh37]
Chr5:138742233 [NCBI36]
Chr5:5q31.2
not provided
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q31.2(chr5:139103408-139683294)x3 copy number gain See cases [RCV000137000] Chr5:139103408..139683294 [GRCh38]
Chr5:138439097..139062879 [GRCh37]
Chr5:138466996..139043063 [NCBI36]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
GRCh37/hg19 5q31.2(chr5:137754277-138994590)x1 copy number loss not provided [RCV001270645] Chr5:137754277..138994590 [GRCh37]
Chr5:5q31.2
likely pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV001381154]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q31.2(chr5:138390162-139160907)x3 copy number gain not provided [RCV000682599] Chr5:138390162..139160907 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q31.2(chr5:138576800-138715502)x3 copy number gain not provided [RCV000745192] Chr5:138576800..138715502 [GRCh37]
Chr5:5q31.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_005847.5(SLC23A1):c.1550-9C>T single nucleotide variant not provided [RCV000966962] Chr5:139372262 [GRCh38]
Chr5:138707951 [GRCh37]
Chr5:5q31.2
benign
NM_005847.5(SLC23A1):c.873T>C (p.Asp291=) single nucleotide variant not provided [RCV000958823] Chr5:139379730 [GRCh38]
Chr5:138715419 [GRCh37]
Chr5:5q31.2
benign
NM_005847.5(SLC23A1):c.22G>A (p.Glu8Lys) single nucleotide variant not provided [RCV000925855] Chr5:139383232 [GRCh38]
Chr5:138718921 [GRCh37]
Chr5:5q31.2
benign
NM_005847.5(SLC23A1):c.1077C>G (p.Gly359=) single nucleotide variant not provided [RCV000880601] Chr5:139378681 [GRCh38]
Chr5:138714370 [GRCh37]
Chr5:5q31.2
benign
NM_005847.5(SLC23A1):c.772A>G (p.Met258Val) single nucleotide variant not provided [RCV000966963] Chr5:139379831 [GRCh38]
Chr5:138715520 [GRCh37]
Chr5:5q31.2
benign
GRCh37/hg19 5q31.2(chr5:137865800-139097368)x1 copy number loss not provided [RCV000846144] Chr5:137865800..139097368 [GRCh37]
Chr5:5q31.2
pathogenic
GRCh37/hg19 5q31.2(chr5:138101724-138876953)x3 copy number gain not provided [RCV001259915] Chr5:138101724..138876953 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:138351402-138893343)x3 copy number gain not provided [RCV001259916] Chr5:138351402..138893343 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication Deafness, autosomal dominant 1 [RCV001319817]|Mental retardation, autosomal dominant 31 [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10974 AgrOrtholog
COSMIC SLC23A1 COSMIC
Ensembl Genes ENSG00000170482 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000302701 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000302851 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422688 UniProtKB/TrEMBL
  ENSP00000427271 UniProtKB/TrEMBL
Ensembl Transcript ENST00000348729 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000353963 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000504513 UniProtKB/TrEMBL
  ENST00000508270 UniProtKB/TrEMBL
GTEx ENSG00000170482 GTEx
HGNC ID HGNC:10974 ENTREZGENE
Human Proteome Map SLC23A1 Human Proteome Map
InterPro SLC23A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xant/urac/vitC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9963 UniProtKB/Swiss-Prot
NCBI Gene 9963 ENTREZGENE
OMIM 603790 OMIM
PANTHER PTHR11119:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Xan_ur_permease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35850 PharmGKB
UniProt H0Y902_HUMAN UniProtKB/TrEMBL
  H0YAJ1_HUMAN UniProtKB/TrEMBL
  Q9UHI7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O95191 UniProtKB/Swiss-Prot
  Q8WWB6 UniProtKB/Swiss-Prot
  Q9UGH4 UniProtKB/Swiss-Prot
  Q9UI39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC23A1  solute carrier family 23 member 1  SLC23A1  solute carrier family 23 (ascorbic acid transporter), member 1  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC23A1  solute carrier family 23 (ascorbic acid transporter), member 1  SLC23A1  solute carrier family 23 (nucleobase transporters), member 1  Symbol and/or name change 5135510 APPROVED