SLC1A5 (solute carrier family 1 member 5) - Rat Genome Database

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Gene: SLC1A5 (solute carrier family 1 member 5) Homo sapiens
Analyze
Symbol: SLC1A5
Name: solute carrier family 1 member 5
RGD ID: 1347799
HGNC Page HGNC
Description: Enables L-glutamine transmembrane transporter activity. Involved in glutamine transport and protein homotrimerization. Located in plasma membrane. Is integral component of membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AAAT; ASCT2; ATB(0); ATBO; baboon M7 virus receptor; FLJ31068; M7V1; M7VS1; neutral amino acid transporter B; neutral amino acid transporter B(0); R16; RD114 virus receptor; RD114/simian type D retrovirus receptor; RDRC; sodium-dependent neutral amino acid transporter type 2; solute carrier family 1 (neutral amino acid transporter), member 5
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 Ensembl1946,774,883 - 46,788,594 (-)EnsemblGRCh38hg38GRCh38
GRCh381946,774,883 - 46,788,594 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,278,140 - 47,291,851 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,969,980 - 51,983,653 (-)NCBINCBI36hg18NCBI36
Build 341951,969,981 - 51,983,653NCBI
Celera1944,082,395 - 44,096,097 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,702,915 - 43,716,958 (-)NCBIHuRef
CHM1_11947,280,017 - 47,293,715 (-)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
(S)-colchicine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
adenine  (EXP)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzoates  (EXP)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
cefaloridine  (ISO)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chlorpromazine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cidofovir anhydrous  (EXP)
cisplatin  (EXP,ISO)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
dithioerythritol  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
etoposide  (EXP)
folic acid  (ISO)
formaldehyde  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
hydroxyurea  (EXP)
ifosfamide  (EXP)
Indeno[1,2,3-cd]pyrene  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
Nonylphenol  (ISO)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thiazoles  (ISO)
thioacetamide  (ISO)
titanium dioxide  (EXP)
tolcapone  (ISO)
tributylstannane  (ISO)
Triptolide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
XL147  (ISO)
zearalenone  (EXP,ISO)
zidovudine  (EXP)
zinc dichloride  (EXP)
zoledronic acid  (EXP)

References

Additional References at PubMed
PMID:8702519   PMID:10051606   PMID:10196349   PMID:10698697   PMID:11350958   PMID:11781704   PMID:12050356   PMID:12175968   PMID:12477932   PMID:12555937   PMID:12584318   PMID:12757936  
PMID:14520239   PMID:14702039   PMID:15174051   PMID:15489334   PMID:15845389   PMID:15848195   PMID:16169070   PMID:16197915   PMID:16344560   PMID:16435221   PMID:16516348   PMID:16820059  
PMID:17081065   PMID:17081983   PMID:17329400   PMID:17353931   PMID:17676482   PMID:18029348   PMID:18157695   PMID:18195088   PMID:18638388   PMID:19321927   PMID:19615732   PMID:19640993  
PMID:19946888   PMID:20458337   PMID:21145461   PMID:21757002   PMID:22238282   PMID:22804921   PMID:22810586   PMID:22939629   PMID:22990118   PMID:23213057   PMID:23492904   PMID:23507704  
PMID:23636801   PMID:23798571   PMID:24531984   PMID:24603303   PMID:24639526   PMID:24687878   PMID:24711643   PMID:24755837   PMID:24797263   PMID:24845232   PMID:24981860   PMID:25052780  
PMID:25142020   PMID:25192599   PMID:25337245   PMID:25468996   PMID:25631074   PMID:25693838   PMID:25759021   PMID:25862406   PMID:25921289   PMID:25959826   PMID:25963833   PMID:25987094  
PMID:26024742   PMID:26439863   PMID:26455325   PMID:26492990   PMID:26496610   PMID:26508657   PMID:26590417   PMID:26638075   PMID:26936531   PMID:26972000   PMID:27025967   PMID:27129276  
PMID:27143784   PMID:27432908   PMID:27450723   PMID:27880917   PMID:28036362   PMID:28302793   PMID:28378594   PMID:28419191   PMID:28507054   PMID:28514442   PMID:28561026   PMID:28609484  
PMID:28675297   PMID:28685749   PMID:28749408   PMID:28784848   PMID:28807674   PMID:28823958   PMID:28885889   PMID:29020998   PMID:29053956   PMID:29117863   PMID:29128334   PMID:29151270  
PMID:29180619   PMID:29229926   PMID:29326164   PMID:29334372   PMID:29363109   PMID:29435734   PMID:29455869   PMID:29467282   PMID:29495336   PMID:29507755   PMID:29509190   PMID:29563155  
PMID:29564676   PMID:29568061   PMID:29635000   PMID:29844126   PMID:29872227   PMID:30029480   PMID:30071532   PMID:30194290   PMID:30272366   PMID:30280653   PMID:30349055   PMID:30352685  
PMID:30442766   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30619736   PMID:30635397   PMID:30639242   PMID:30668314   PMID:30773093   PMID:30833792   PMID:30935948   PMID:30948266  
PMID:30995489   PMID:31073040   PMID:31091453   PMID:31177093   PMID:31300519   PMID:31409775   PMID:31501420   PMID:31535081   PMID:31536960   PMID:31580259   PMID:31620119   PMID:31678930  
PMID:31685994   PMID:31732153   PMID:31819178   PMID:31826641   PMID:31866442   PMID:31959741   PMID:32149426   PMID:32242892   PMID:32296183   PMID:32322062   PMID:32409323   PMID:32552912  
PMID:32683582   PMID:32807901   PMID:32838362   PMID:32913203   PMID:32996252   PMID:33144569   PMID:33957083   PMID:34079125   PMID:34282517  


Genomics

Comparative Map Data
SLC1A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1946,774,883 - 46,788,594 (-)EnsemblGRCh38hg38GRCh38
GRCh381946,774,883 - 46,788,594 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,278,140 - 47,291,851 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,969,980 - 51,983,653 (-)NCBINCBI36hg18NCBI36
Build 341951,969,981 - 51,983,653NCBI
Celera1944,082,395 - 44,096,097 (-)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,702,915 - 43,716,958 (-)NCBIHuRef
CHM1_11947,280,017 - 47,293,715 (-)NCBICHM1_1
Slc1a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,515,259 - 16,532,199 (+)NCBIGRCm39mm39
GRCm39 Ensembl716,515,265 - 16,532,199 (+)Ensembl
GRCm38716,781,334 - 16,798,274 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,781,340 - 16,798,274 (+)EnsemblGRCm38mm10GRCm38
MGSCv37717,366,695 - 17,383,623 (+)NCBIGRCm37mm9NCBIm37
MGSCv36715,939,929 - 15,956,765 (+)NCBImm8
Celera713,979,416 - 13,996,329 (+)NCBICelera
Cytogenetic Map7A2NCBI
Slc1a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2177,456,849 - 77,470,952 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl177,456,694 - 77,470,952 (+)Ensembl
Rnor_6.0178,710,686 - 78,724,789 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,710,539 - 78,724,794 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,957,648 - 79,971,751 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,111,082 - 77,125,166 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1177,189,192 - 77,203,276 (+)NCBI
Celera171,941,916 - 71,956,019 (+)NCBICelera
Cytogenetic Map1q21NCBI
Slc1a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955574798,004 - 806,631 (-)NCBIChiLan1.0ChiLan1.0
SLC1A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11952,294,052 - 52,308,159 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,294,655 - 52,307,529 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01943,765,001 - 43,778,981 (-)NCBIMhudiblu_PPA_v0panPan3
SLC1A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,150,205 - 109,161,375 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,150,205 - 109,161,141 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,630,028 - 108,640,938 (+)NCBI
ROS_Cfam_1.01109,676,678 - 109,687,827 (+)NCBI
UMICH_Zoey_3.11109,353,817 - 109,364,724 (+)NCBI
UNSW_CanFamBas_1.01108,988,004 - 108,998,931 (+)NCBI
UU_Cfam_GSD_1.01109,856,686 - 109,867,593 (+)NCBI
Slc1a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934918,980,757 - 18,992,747 (-)NCBI
SpeTri2.0NW_004936664599,012 - 610,689 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC1A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,647,432 - 52,661,459 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,647,432 - 52,661,464 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2648,026,660 - 48,032,162 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC1A5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,139,417 - 40,150,312 (-)NCBI
Vero_WHO_p1.0NW_02366607319,833,875 - 19,850,399 (-)NCBI
Slc1a5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248326,830,799 - 6,839,118 (+)NCBI

Position Markers
GDB:594587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,278,240 - 47,278,412UniSTSGRCh37
Build 361951,970,080 - 51,970,252RGDNCBI36
Celera1944,082,495 - 44,082,667RGD
Cytogenetic Map19q13.3UniSTS
HuRef1943,703,015 - 43,703,187UniSTS
PMC16555P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,278,413 - 47,278,608UniSTSGRCh37
Build 361951,970,253 - 51,970,448RGDNCBI36
Celera1944,082,668 - 44,082,863RGD
Cytogenetic Map19q13.3UniSTS
HuRef1943,703,188 - 43,703,383UniSTS
SLC1A5_3271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,278,107 - 47,278,993UniSTSGRCh37
Build 361951,969,947 - 51,970,833RGDNCBI36
Celera1944,082,362 - 44,083,248RGD
HuRef1943,702,882 - 43,703,768UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2040
Count of miRNA genes:641
Interacting mature miRNAs:752
Transcripts:ENST00000412532, ENST00000434726, ENST00000542575, ENST00000593713, ENST00000594991, ENST00000598022
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 pharyngeal arch
High 12 1 3 2 1 3 4
Medium 2404 2450 1254 294 1854 136 3615 1087 1147 394 1445 1528 171 1204 2050 4
Low 16 534 466 327 92 326 738 1107 2214 23 2 76 738 1
Below cutoff 3 1 2 2 3 1 349 1 6 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF102826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF334818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA031076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ919058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000412532   ⟹   ENSP00000397924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,774,924 - 46,787,342 (-)Ensembl
RefSeq Acc Id: ENST00000434726   ⟹   ENSP00000406532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,774,885 - 46,784,824 (-)Ensembl
RefSeq Acc Id: ENST00000542575   ⟹   ENSP00000444408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,774,883 - 46,788,594 (-)Ensembl
RefSeq Acc Id: ENST00000593713   ⟹   ENSP00000468890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,777,211 - 46,784,786 (-)Ensembl
RefSeq Acc Id: ENST00000594991   ⟹   ENSP00000469265
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,774,885 - 46,784,905 (-)Ensembl
RefSeq Acc Id: ENST00000598022   ⟹   ENSP00000471626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,782,436 - 46,784,803 (-)Ensembl
RefSeq Acc Id: NM_001145144   ⟹   NP_001138616
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,774,883 - 46,787,293 (-)NCBI
GRCh371947,263,587 - 47,292,280 (-)NCBI
HuRef1943,702,915 - 43,716,958 (-)ENTREZGENE
CHM1_11947,280,017 - 47,292,418 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145145   ⟹   NP_001138617
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,774,883 - 46,784,814 (-)NCBI
GRCh371947,263,587 - 47,292,280 (-)NCBI
HuRef1943,702,915 - 43,716,958 (-)ENTREZGENE
CHM1_11947,280,017 - 47,290,007 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005628   ⟹   NP_005619
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,774,883 - 46,788,594 (-)NCBI
GRCh371947,263,587 - 47,292,280 (-)NCBI
Build 361951,969,980 - 51,983,653 (-)NCBI Archive
HuRef1943,702,915 - 43,716,958 (-)ENTREZGENE
CHM1_11947,280,017 - 47,293,715 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005619   ⟸   NM_005628
- Peptide Label: isoform 1
- UniProtKB: Q15758 (UniProtKB/Swiss-Prot),   Q59ES3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138616   ⟸   NM_001145144
- Peptide Label: isoform 2
- UniProtKB: Q15758 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001138617   ⟸   NM_001145145
- Peptide Label: isoform 3
- UniProtKB: Q15758 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000469265   ⟸   ENST00000594991
RefSeq Acc Id: ENSP00000444408   ⟸   ENST00000542575
RefSeq Acc Id: ENSP00000397924   ⟸   ENST00000412532
RefSeq Acc Id: ENSP00000471626   ⟸   ENST00000598022
RefSeq Acc Id: ENSP00000406532   ⟸   ENST00000434726
RefSeq Acc Id: ENSP00000468890   ⟸   ENST00000593713

Promoters
RGD ID:13204771
Promoter ID:EPDNEW_H26005
Type:initiation region
Name:SLC1A5_1
Description:solute carrier family 1 member 5
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
GRCh381946,788,594 - 46,788,654EPDNEW
RGD ID:6796041
Promoter ID:HG_KWN:30362
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145145,   UC002PFQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361951,979,866 - 51,980,852 (-)MPROMDB
RGD ID:6796047
Promoter ID:HG_KWN:30363
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002PFR.1,   UC002PFS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361951,982,471 - 51,983,722 (-)MPROMDB
RGD ID:6852556
Promoter ID:EP74090
Type:initiation region
Name:HS_SLC1A5
Description:Solute carrier family 1 (neutral amino acid transporter), member 5.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361951,983,681 - 51,983,741EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001376696] Chr19:46778904 [GRCh38]
Chr19:47282161 [GRCh37]
Chr19:19q13.32
affects
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 copy number gain See cases [RCV000050320] Chr19:46434490..46831000 [GRCh38]
Chr19:46937747..47334257 [GRCh37]
Chr19:51629587..52026097 [NCBI36]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 copy number loss See cases [RCV000053976] Chr19:46458122..47683579 [GRCh38]
Chr19:46961379..48186836 [GRCh37]
Chr19:51653219..52878648 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 copy number loss See cases [RCV000137832] Chr19:45387389..46831000 [GRCh38]
Chr19:45890647..47334257 [GRCh37]
Chr19:50582487..52026097 [NCBI36]
Chr19:19q13.32
likely pathogenic
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 copy number gain See cases [RCV000148268] Chr19:46434490..46831000 [GRCh38]
Chr19:46937747..47334257 [GRCh37]
Chr19:51629587..52026097 [NCBI36]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3 copy number gain not provided [RCV000585171] Chr19:47228251..47867279 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3 copy number gain See cases [RCV000446734] Chr19:46918881..47782258 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33
likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19q13.32(chr19:47290651-47328137)x1 copy number loss not provided [RCV000740191] Chr19:47290651..47328137 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_005628.3(SLC1A5):c.1357A>C (p.Ile453Leu) single nucleotide variant not provided [RCV000955754] Chr19:46777006 [GRCh38]
Chr19:47280263 [GRCh37]
Chr19:19q13.32
benign
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10943 AgrOrtholog
COSMIC SLC1A5 COSMIC
Ensembl Genes ENSG00000105281 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000397924 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468890 UniProtKB/TrEMBL
  ENSP00000469265 UniProtKB/TrEMBL
  ENSP00000471626 UniProtKB/TrEMBL
Ensembl Transcript ENST00000412532 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000434726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542575 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593713 UniProtKB/TrEMBL
  ENST00000594991 UniProtKB/TrEMBL
  ENST00000598022 UniProtKB/TrEMBL
Gene3D-CATH 1.10.3860.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105281 GTEx
HGNC ID HGNC:10943 ENTREZGENE
Human Proteome Map SLC1A5 Human Proteome Map
InterPro Na-dicarboxylate_symporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na-dicarboxylate_symporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Na:dicarbo_symporter_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6510 ENTREZGENE
OMIM 109190 OMIM
Pfam SDF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35830 PharmGKB
PROSITE NA_DICARBOXYL_SYMP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA_DICARBOXYL_SYMP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF118215 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AAAT_HUMAN UniProtKB/Swiss-Prot
  M0QX44_HUMAN UniProtKB/TrEMBL
  M0QXM4_HUMAN UniProtKB/TrEMBL
  M0R144_HUMAN UniProtKB/TrEMBL
  Q15758 ENTREZGENE
  Q59ES3 ENTREZGENE, UniProtKB/TrEMBL
  Q71UA6_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K9H5 UniProtKB/Swiss-Prot
  B4DR77 UniProtKB/Swiss-Prot
  B4DWS4 UniProtKB/Swiss-Prot
  B7ZB81 UniProtKB/Swiss-Prot
  D0EYG6 UniProtKB/Swiss-Prot
  E9PC01 UniProtKB/Swiss-Prot
  O95720 UniProtKB/Swiss-Prot
  Q96RL9 UniProtKB/Swiss-Prot
  Q9BWQ3 UniProtKB/Swiss-Prot
  Q9UNP2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC1A5  solute carrier family 1 member 5    solute carrier family 1 (neutral amino acid transporter), member 5  Symbol and/or name change 5135510 APPROVED