SLC7A5 (solute carrier family 7 member 5) - Rat Genome Database

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Gene: SLC7A5 (solute carrier family 7 member 5) Homo sapiens
Analyze
Symbol: SLC7A5
Name: solute carrier family 7 member 5
RGD ID: 1354186
HGNC Page HGNC:11063
Description: Enables L-amino acid transmembrane transporter activity and secondary active transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in several cellular components, including apical plasma membrane; cytosol; and microvillus membrane. Part of amino acid transport complex. Implicated in cholangiocarcinoma; colon cancer; hepatocellular carcinoma; and lung squamous cell carcinoma. Biomarker of esophagitis; gastrointestinal system cancer (multiple); malignant astrocytoma (multiple); and respiratory system cancer (multiple).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 4F2 LC; 4F2 light chain; 4F2LC; CD98; CD98 light chain; D16S469E; E16; hLAT1; integral membrane protein E16; L-type amino acid transporter 1; large neutral amino acids transporter 1; large neutral amino acids transporter small subunit 1; LAT1; MPE16; sodium-independent neutral amino acid transporter LAT1; solute carrier family 7 (amino acid transporter light chain, L system), member 5; solute carrier family 7 (cationic amino acid transporter, y+ system), member 5; y+ system cationic amino acid transporter
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC7A5P1   SLC7A5P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381687,830,023 - 87,869,507 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1687,830,016 - 87,869,507 (-)EnsemblGRCh38hg38GRCh38
GRCh371687,863,629 - 87,903,113 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361686,421,130 - 86,460,601 (-)NCBINCBI36Build 36hg18NCBI36
Build 341686,421,130 - 86,460,601NCBI
Celera1672,160,934 - 72,200,417 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1673,604,119 - 73,643,626 (-)NCBIHuRef
CHM1_11689,274,981 - 89,314,543 (-)NCBICHM1_1
T2T-CHM13v2.01693,902,734 - 93,942,286 (-)NCBIT2T-CHM13v2.0
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)-nicotine  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxyphenyl retinamide  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
AM-251  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
azoxystrobin  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
cadmium dichloride  (EXP)
cannabidiol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (EXP,ISO)
carbonyl sulfide  (ISO)
cefaloridine  (ISO)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cholesterol  (EXP)
chromium(6+)  (EXP)
chrysene  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clodronic acid  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
colforsin daropate hydrochloride  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
daidzein  (EXP)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diclofenac  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
estrone  (EXP)
ethanol  (EXP,ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenofibrate  (EXP)
fenpyroximate  (EXP)
ferric oxide  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gabapentin  (EXP)
genistein  (EXP)
gentamycin  (ISO)
hexane  (ISO)
hydrogen peroxide  (EXP)
ibuprofen  (EXP)
ifosfamide  (EXP)
Indeno[1,2,3-cd]pyrene  (EXP)
indometacin  (EXP,ISO)
isoniazide  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-tryptophan  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
mercury(0)  (EXP)
mestranol  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
mitoxantrone  (EXP)
N(4)-hydroxycytidine  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-methyl-4-phenylpyridinium  (EXP,ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (EXP,ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phytoestrogen  (EXP)
picoxystrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP)
piroxicam  (EXP)
potassium bromate  (EXP)
progesterone  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
riddelliine  (ISO)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (EXP)
thapsigargin  (EXP,ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triticonazole  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (EXP)
zidovudine  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alanine transport  (IDA)
amino acid import across plasma membrane  (IDA,IEA,IMP,ISS)
amino acid transmembrane transport  (IBA)
amino acid transport  (IEA)
cellular response to amino acid stimulus  (IEA,ISO)
cellular response to glucose starvation  (IEA,ISO)
cellular response to L-arginine  (IEA,ISO)
cellular response to lipopolysaccharide  (IEA,ISO)
isoleucine transport  (IDA,IEA,ISO)
L-alpha-amino acid transmembrane transport  (IEA)
L-amino acid transport  (IEA,ISO)
L-histidine transport  (IDA)
L-leucine import across plasma membrane  (IDA,IMP)
L-leucine transport  (IDA,IEA)
L-tryptophan transmembrane transport  (IDA)
liver regeneration  (IEA,ISO)
methionine transport  (IDA)
negative regulation of autophagy  (IEA,ISO)
negative regulation of gene expression  (IMP)
negative regulation of vascular associated smooth muscle cell apoptotic process  (IEA,ISO)
neutral amino acid transport  (IBA,IDA,IEA,IMP,ISS)
phenylalanine transport  (IDA,IGI)
positive regulation of cytokine production involved in immune response  (TAS)
positive regulation of glial cell proliferation  (IEA,ISO)
positive regulation of interleukin-17 production  (IMP)
positive regulation of interleukin-4 production  (IMP)
positive regulation of L-leucine import across plasma membrane  (IEA,ISO)
positive regulation of type II interferon production  (IMP)
proline transport  (IDA)
response to hyperoxia  (IEA,ISO)
response to muscle activity  (IEA,ISO)
thyroid hormone transport  (IDA)
transmembrane transport  (IEA)
transport across blood-brain barrier  (NAS)
tryptophan transport  (IDA,IEA)
tyrosine transport  (IDA)
valine transport  (IDA,IEA,ISO)
xenobiotic transport  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Diagnostic potential of miR-126, miR-143, miR-145, and miR-652 in malignant pleural mesothelioma. Andersen M, etal., J Mol Diagn. 2014 Jul;16(4):418-30. doi: 10.1016/j.jmoldx.2014.03.002. Epub 2014 Jun 6.
2. The general amino acid control pathway regulates mTOR and autophagy during serum/glutamine starvation. Chen R, etal., J Cell Biol. 2014 Jul 21;206(2):173-82. doi: 10.1083/jcb.201403009.
3. Tissue-based metabolomics reveals metabolic biomarkers and potential therapeutic targets for esophageal squamous cell carcinoma. Chen Z, etal., J Pharm Biomed Anal. 2021 Apr 15;197:113937. doi: 10.1016/j.jpba.2021.113937. Epub 2021 Feb 5.
4. GSE1 predicts poor survival outcome in gastric cancer patients by SLC7A5 enhancement of tumor growth and metastasis. Ding K, etal., J Biol Chem. 2018 Mar 16;293(11):3949-3964. doi: 10.1074/jbc.RA117.001103. Epub 2018 Jan 24.
5. L-type amino-acid transporter 1 expression predicts the response to preoperative hyperthermo-chemoradiotherapy for advanced rectal cancer. Ebara T, etal., Anticancer Res. 2010 Oct;30(10):4223-7.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. L-type amino acid transporter 1 expression in esophageal carcinogenesis according to WHO and Japanese classifications of intraepithelial neoplasia. Hashimoto H, etal., Pathol Int. 2017 May;67(5):247-255. doi: 10.1111/pin.12528. Epub 2017 Mar 29.
8. L-type amino acid transporter 1 expression is upregulated and associated with cellular proliferation in colorectal cancer. Hayase S, etal., Oncol Lett. 2017 Dec;14(6):7410-7416. doi: 10.3892/ol.2017.7148. Epub 2017 Oct 6.
9. Clinicopathological significance of LAT1 and ASCT2 in patients with surgically resected esophageal squamous cell carcinoma. Honjo H, etal., J Surg Oncol. 2016 Mar;113(4):381-9. doi: 10.1002/jso.24160. Epub 2016 Mar 3.
10. High expression of L-type amino-acid transporter 1 (LAT1) in gastric carcinomas: comparison with non-cancerous lesions. Ichinoe M, etal., Pathol Int. 2011 May;61(5):281-9. doi: 10.1111/j.1440-1827.2011.02650.x. Epub 2011 Mar 17.
11. L-Type amino acid transporter 1 (LAT1) expression in lymph node metastasis of gastric carcinoma: Its correlation with size of metastatic lesion and Ki-67 labeling. Ichinoe M, etal., Pathol Res Pract. 2015 Jul;211(7):533-8. doi: 10.1016/j.prp.2015.03.007. Epub 2015 Apr 7.
12. Inhibition of L-type amino acid transporter 1 has antitumor activity in non-small cell lung cancer. Imai H, etal., Anticancer Res. 2010 Dec;30(12):4819-28.
13. L-type amino acid transporter 1 (LAT1) expression in malignant pleural mesothelioma. Kaira K, etal., Anticancer Res. 2011 Dec;31(12):4075-82.
14. Relationship between LAT1 expression and response to platinum-based chemotherapy in non-small cell lung cancer patients with postoperative recurrence. Kaira K, etal., Anticancer Res. 2011 Nov;31(11):3775-82.
15. Clinical significance of L-type amino acid transporter 1 expression as a prognostic marker and potential of new targeting therapy in biliary tract cancer. Kaira K, etal., BMC Cancer. 2013 Oct 16;13:482. doi: 10.1186/1471-2407-13-482.
16. l-type amino acid transporter 1 and CD98 expression in primary and metastatic sites of human neoplasms. Kaira K, etal., Cancer Sci. 2008 Dec;99(12):2380-6. doi: 10.1111/j.1349-7006.2008.00969.x. Epub 2008 Nov 17.
17. Prognostic significance of L-type amino acid transporter 1 (LAT1) and 4F2 heavy chain (CD98) expression in early stage squamous cell carcinoma of the lung. Kaira K, etal., Cancer Sci. 2009 Feb;100(2):248-54. doi: 10.1111/j.1349-7006.2008.01029.x.
18. CD98 is a promising prognostic biomarker in biliary tract cancer. Kaira K, etal., Hepatobiliary Pancreat Dis Int. 2014 Dec;13(6):654-7. doi: 10.1016/s1499-3872(14)60278-2.
19. Expression of amino acid transporter (LAT1 and 4F2hc) in pulmonary pleomorphic carcinoma. Kaira K, etal., Hum Pathol. 2019 Feb;84:142-149. doi: 10.1016/j.humpath.2018.09.020. Epub 2018 Oct 6.
20. Prognostic significance of L-type amino acid transporter 1 (LAT1) and 4F2 heavy chain (CD98) expression in stage I pulmonary adenocarcinoma. Kaira K, etal., Lung Cancer. 2009 Oct;66(1):120-6. doi: 10.1016/j.lungcan.2008.12.015. Epub 2009 Jan 26.
21. Clinicopathological significance of L-type amino acid transporter 1 (LAT1) expression in patients with adenoid cystic carcinoma. Kaira K, etal., Pathol Oncol Res. 2013 Oct;19(4):649-56. doi: 10.1007/s12253-013-9624-2. Epub 2013 Mar 21.
22. Expression of L-type amino acid transporter 1 (LAT1) in neuroendocrine tumors of the lung. Kaira K, etal., Pathol Res Pract. 2008;204(8):553-61. doi: 10.1016/j.prp.2008.02.003. Epub 2008 Apr 28.
23. Expression of L-type amino acid transporter 1 (LAT1) in esophageal carcinoma. Kobayashi H, etal., J Surg Oncol. 2005 Jun 15;90(4):233-8. doi: 10.1002/jso.20257.
24. Ultrastructural immunohistochemical study of L-type amino acid transporter 1-4F2 heavy chain in tumor microvasculatures of N-butyl-N-(4-hydroxybutyl) nitrosamine (BBN) induced rat bladder carcinoma. Kume E, etal., Microscopy (Oxf). 2017 Jun 1;66(3):198-203. doi: 10.1093/jmicro/dfx008.
25. The impact of L-type amino acid transporter 1 (LAT1) in human hepatocellular carcinoma. Li J, etal., Tumour Biol. 2013 Oct;34(5):2977-81. doi: 10.1007/s13277-013-0861-5. Epub 2013 May 22.
26. Possible involvement of oxidative stress in piperonyl butoxide induced hepatocarcinogenesis in rats. Muguruma M, etal., Toxicology. 2007 Jul 1;236(1-2):61-75. doi: 10.1016/j.tox.2007.03.025. Epub 2007 Apr 6.
27. L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. Nawashiro H, etal., Int J Cancer. 2006 Aug 1;119(3):484-92. doi: 10.1002/ijc.21866.
28. The human NAD metabolome: Functions, metabolism and compartmentalization. Nikiforov A, etal., Crit Rev Biochem Mol Biol. 2015;50(4):284-97. doi: 10.3109/10409238.2015.1028612. Epub 2015 Apr 2.
29. Diagnostic usefulness of ¹⁸F-FAMT PET and L-type amino acid transporter 1 (LAT1) expression in oral squamous cell carcinoma. Nobusawa A, etal., Eur J Nucl Med Mol Imaging. 2013 Oct;40(11):1692-700. doi: 10.1007/s00259-013-2477-9. Epub 2013 Jun 26.
30. L-type amino acid transporter 1 inhibitors inhibit tumor cell growth. Oda K, etal., Cancer Sci. 2010 Jan;101(1):173-9. doi: 10.1111/j.1349-7006.2009.01386.x. Epub 2009 Oct 8.
31. Expression of L-type amino acid transporter 1 (LAT1) and 4F2 heavy chain (4F2hc) in liver tumor lesions of rat models. Ohkame H, etal., J Surg Oncol. 2001 Dec;78(4):265-71; discussion 271-2. doi: 10.1002/jso.1165.
32. Yes-associated protein 1 and transcriptional coactivator with PDZ-binding motif activate the mammalian target of rapamycin complex 1 pathway by regulating amino acid transporters in hepatocellular carcinoma. Park YY, etal., Hepatology. 2016 Jan;63(1):159-72. doi: 10.1002/hep.28223. Epub 2015 Nov 26.
33. Cardiac glutaminolysis: a maladaptive cancer metabolism pathway in the right ventricle in pulmonary hypertension. Piao L, etal., J Mol Med (Berl). 2013 Oct;91(10):1185-97. doi: 10.1007/s00109-013-1064-7. Epub 2013 Jun 21.
34. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. Positive correlation of expression of L-type amino-acid transporter 1 with colorectal tumor progression and prognosis: Higher expression in sporadic colorectal tumors compared with ulcerative colitis-associated neoplasia. Sakata T, etal., Pathol Res Pract. 2020 Jun;216(6):152972. doi: 10.1016/j.prp.2020.152972. Epub 2020 Apr 18.
37. TA1, a highly conserved oncofetal complementary DNA from rat hepatoma, encodes an integral membrane protein associated with liver development, carcinogenesis, and cell activation. Sang J, etal., Cancer Res 1995 Mar 1;55(5):1152-9.
38. Expression of TA1, a rat oncofetal cDNA with homology to transport-associated genes, in carbon-tetrachloride-induced liver injury. Shultz VD, etal., Pathobiology. 1997;65(1):14-25. doi: 10.1159/000164099.
39. Expression of L-type amino acid transporter 1 in a rat model of liver metastasis: positive correlation with tumor size. Tamai S, etal., Cancer Detect Prev. 2001;25(5):439-45.
40. Prognostic significance of amino-acid transporter expression (LAT1, ASCT2, and xCT) in surgically resected tongue cancer. Toyoda M, etal., Br J Cancer. 2014 May 13;110(10):2506-13. doi: 10.1038/bjc.2014.178. Epub 2014 Apr 24.
41. Up-regulation of L type amino acid transporter 1 after spinal cord injury in rats. Toyooka T, etal., Acta Neurochir Suppl. 2008;102:385-8. doi: 10.1007/978-3-211-85578-2_74.
42. LAT-1 functions as a promotor in gastric cancer associated with clinicopathologic features. Wang J, etal., Biomed Pharmacother. 2013 Oct;67(8):693-9. doi: 10.1016/j.biopha.2013.05.003. Epub 2013 Jun 14.
43. Circ-SLC7A5, a potential prognostic circulating biomarker for detection of ESCC. Wang Q, etal., Cancer Genet. 2020 Jan;240:33-39. doi: 10.1016/j.cancergen.2019.11.001. Epub 2019 Nov 5.
44. Endotoxin-induced inflammation down-regulates L-type amino acid transporter 1 (LAT1) expression at the blood-brain barrier of male rats and mice. Wittmann G, etal., Fluids Barriers CNS. 2015 Sep 4;12:21. doi: 10.1186/s12987-015-0016-8.
45. High expression of L-type amino acid transporter 1 as a prognostic marker in bile duct adenocarcinomas. Yanagisawa N, etal., Cancer Med. 2014 Oct;3(5):1246-55. doi: 10.1002/cam4.272. Epub 2014 Jun 2.
46. Clinical significance of coexpression of L-type amino acid transporter 1 (LAT1) and ASC amino acid transporter 2 (ASCT2) in lung adenocarcinoma. Yazawa T, etal., Am J Transl Res. 2015 Jun 15;7(6):1126-39. eCollection 2015.
47. Inhibition of l-type amino acid transporter 1 activity as a new therapeutic target for cholangiocarcinoma treatment. Yothaisong S, etal., Tumour Biol. 2017 Mar;39(3):1010428317694545. doi: 10.1177/1010428317694545.
Additional References at PubMed
PMID:1597461   PMID:7561057   PMID:7829099   PMID:8922468   PMID:9403839   PMID:9751058   PMID:9829974   PMID:9878049   PMID:10049700   PMID:10072483   PMID:10568788   PMID:10574970  
PMID:10629848   PMID:11095508   PMID:11311135   PMID:11535130   PMID:11557028   PMID:11564694   PMID:11742812   PMID:11847106   PMID:12009310   PMID:12117417   PMID:12225859   PMID:12477932  
PMID:12824232   PMID:12925876   PMID:15178563   PMID:15200428   PMID:15302935   PMID:15489334   PMID:15589117   PMID:15769744   PMID:15900591   PMID:15901826   PMID:16097034   PMID:16175382  
PMID:17197568   PMID:17558306   PMID:17622555   PMID:18095110   PMID:18195088   PMID:18253116   PMID:18262359   PMID:18294274   PMID:18382329   PMID:18619525   PMID:18813831   PMID:19075510  
PMID:19121087   PMID:19184136   PMID:19322201   PMID:19347882   PMID:19430419   PMID:19559497   PMID:19635099   PMID:19777189   PMID:19946888   PMID:20091333   PMID:20374249   PMID:20375792  
PMID:20458337   PMID:20510678   PMID:20601542   PMID:20680301   PMID:21055621   PMID:21371427   PMID:21439283   PMID:21486766   PMID:21530999   PMID:21798283   PMID:21873635   PMID:22007000  
PMID:22077314   PMID:22736142   PMID:22810586   PMID:22813728   PMID:22939629   PMID:23103253   PMID:23137377   PMID:23221699   PMID:23270998   PMID:23438482   PMID:23567998   PMID:23824658  
PMID:23912240   PMID:24038088   PMID:24168110   PMID:24189400   PMID:24606907   PMID:24639526   PMID:24694899   PMID:24704384   PMID:24726839   PMID:24816252   PMID:24981860   PMID:25089027  
PMID:25220100   PMID:25385314   PMID:25597310   PMID:25701737   PMID:25835180   PMID:25852190   PMID:25979827   PMID:25998567   PMID:26050671   PMID:26054677   PMID:26237765   PMID:26256001  
PMID:26305885   PMID:26437640   PMID:26439863   PMID:26496610   PMID:26590417   PMID:26608079   PMID:26621329   PMID:26638075   PMID:26657287   PMID:26724922   PMID:26850337   PMID:26944194  
PMID:26972000   PMID:27025967   PMID:27224648   PMID:27276226   PMID:27462432   PMID:27550420   PMID:27566573   PMID:27567475   PMID:27591049   PMID:27834933   PMID:27846244   PMID:27912058  
PMID:28052681   PMID:28112518   PMID:28190014   PMID:28320871   PMID:28378594   PMID:28515276   PMID:28626091   PMID:28739699   PMID:28784848   PMID:28937983   PMID:29117863   PMID:29149426  
PMID:29180619   PMID:29198077   PMID:29229926   PMID:29277611   PMID:29278358   PMID:29326164   PMID:29422900   PMID:29507755   PMID:29509190   PMID:29564676   PMID:29566741   PMID:29568061  
PMID:30029480   PMID:30097533   PMID:30103560   PMID:30194290   PMID:30241549   PMID:30280653   PMID:30352685   PMID:30374619   PMID:30480742   PMID:30528230   PMID:30591441   PMID:30591453  
PMID:30639242   PMID:30670494   PMID:30737378   PMID:30784173   PMID:30804502   PMID:30833792   PMID:30867591   PMID:30948266   PMID:30996345   PMID:31092450   PMID:31160781   PMID:31253590  
PMID:31282475   PMID:31409639   PMID:31527615   PMID:31586073   PMID:31605740   PMID:31636293   PMID:31678930   PMID:31701662   PMID:31728037   PMID:31732153   PMID:31748583   PMID:31791063  
PMID:31871319   PMID:31963507   PMID:31980649   PMID:31992742   PMID:31995728   PMID:32060556   PMID:32093034   PMID:32144539   PMID:32240722   PMID:32405891   PMID:32410110   PMID:32458655  
PMID:32469987   PMID:32687490   PMID:32807901   PMID:32821949   PMID:32867828   PMID:32913203   PMID:33001560   PMID:33001583   PMID:33066406   PMID:33080218   PMID:33144569   PMID:33164746  
PMID:33256804   PMID:33397691   PMID:33436954   PMID:33657992   PMID:33742100   PMID:33957083   PMID:34079125   PMID:34091991   PMID:34102206   PMID:34182526   PMID:34185411   PMID:34186245  
PMID:34201429   PMID:34369648   PMID:34373451   PMID:34672954   PMID:34681614   PMID:34709727   PMID:34737339   PMID:34759371   PMID:34792178   PMID:34836160   PMID:34856000   PMID:34921745  
PMID:34942513   PMID:35007762   PMID:35121373   PMID:35176108   PMID:35177712   PMID:35269556   PMID:35271311   PMID:35301401   PMID:35337019   PMID:35346864   PMID:35559673   PMID:35575683  
PMID:35696571   PMID:35748872   PMID:35777956   PMID:35819319   PMID:35844135   PMID:35848618   PMID:35850772   PMID:35944360   PMID:36168628   PMID:36180527   PMID:36192404   PMID:36215168  
PMID:36237976   PMID:36371738   PMID:36526897   PMID:36574265   PMID:36610398   PMID:36653319   PMID:36768934   PMID:36976175   PMID:37120454   PMID:37164714   PMID:37223481   PMID:37232246  
PMID:37314216   PMID:37317656   PMID:37616343   PMID:37728471   PMID:37731509   PMID:37774976   PMID:37827155   PMID:37861075   PMID:37953589   PMID:38117590   PMID:38245532   PMID:38556586  
PMID:38569033   PMID:38660848   PMID:38945485   PMID:38987867   PMID:39179631   PMID:39234254   PMID:39270820   PMID:39304904  


Genomics

Comparative Map Data
SLC7A5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381687,830,023 - 87,869,507 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1687,830,016 - 87,869,507 (-)EnsemblGRCh38hg38GRCh38
GRCh371687,863,629 - 87,903,113 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361686,421,130 - 86,460,601 (-)NCBINCBI36Build 36hg18NCBI36
Build 341686,421,130 - 86,460,601NCBI
Celera1672,160,934 - 72,200,417 (-)NCBICelera
Cytogenetic Map16q24.2NCBI
HuRef1673,604,119 - 73,643,626 (-)NCBIHuRef
CHM1_11689,274,981 - 89,314,543 (-)NCBICHM1_1
T2T-CHM13v2.01693,902,734 - 93,942,286 (-)NCBIT2T-CHM13v2.0
Slc7a5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398122,607,885 - 122,634,425 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8122,607,889 - 122,634,433 (-)EnsemblGRCm39 Ensembl
GRCm388121,881,146 - 121,907,686 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8121,881,150 - 121,907,694 (-)EnsemblGRCm38mm10GRCm38
MGSCv378124,405,046 - 124,431,586 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368121,952,557 - 121,979,440 (-)NCBIMGSCv36mm8
MGSCv368124,767,240 - 124,802,593 (-)NCBIMGSCv36mm8
Celera8126,102,885 - 126,145,803 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map870.8NCBI
Slc7a5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81966,843,808 - 66,872,412 (-)NCBIGRCr8
mRatBN7.21949,935,220 - 49,963,823 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1949,935,220 - 49,963,823 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1956,727,676 - 56,756,167 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01957,410,169 - 57,438,773 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01959,626,276 - 59,654,767 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01954,693,959 - 54,722,563 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1954,693,959 - 54,722,563 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01965,412,970 - 65,441,647 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41952,120,728 - 52,149,332 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11952,125,608 - 52,154,213 (-)NCBI
Celera1949,180,586 - 49,208,780 (-)NCBICelera
Cytogenetic Map19q12NCBI
Slc7a5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555412,103,384 - 2,130,310 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555412,103,437 - 2,129,668 (-)NCBIChiLan1.0ChiLan1.0
SLC7A5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21897,600,937 - 97,641,472 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan116103,515,885 - 103,556,386 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01668,512,407 - 68,552,763 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11687,827,058 - 87,854,154 (-)NCBIpanpan1.1PanPan1.1panPan2
SLC7A5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1565,313,105 - 65,343,858 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl565,313,105 - 65,343,858 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha565,323,236 - 65,353,508 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0565,532,866 - 65,563,141 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl565,532,793 - 65,565,302 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1565,558,337 - 65,588,569 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0565,390,029 - 65,420,262 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0565,797,114 - 65,827,358 (+)NCBIUU_Cfam_GSD_1.0
Slc7a5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934925,759,563 - 25,783,919 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366411,513,110 - 1,538,955 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC7A5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl61,545,944 - 1,574,285 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.161,545,940 - 1,574,298 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
SLC7A5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1573,229,953 - 73,269,801 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl573,229,951 - 73,269,754 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660472,438,818 - 2,479,135 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc7a5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247461,325,368 - 1,349,616 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC7A5
69 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 copy number loss See cases [RCV000053362] Chr16:87306529..89269079 [GRCh38]
Chr16:87340135..89335487 [GRCh37]
Chr16:85897636..87862988 [NCBI36]
Chr16:16q24.2-24.3		 pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1 copy number loss See cases [RCV000135624] Chr16:87223779..87853460 [GRCh38]
Chr16:87257385..87887066 [GRCh37]
Chr16:85814886..86444567 [NCBI36]
Chr16:16q24.2		 uncertain significance
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3		 likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3		 likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q24.2(chr16:87766820-88391819)x3 copy number gain See cases [RCV000142588] Chr16:87766820..88391819 [GRCh38]
Chr16:87800426..88458227 [GRCh37]
Chr16:86357927..86985728 [NCBI36]
Chr16:16q24.2		 uncertain significance
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 copy number loss See cases [RCV000143624] Chr16:86950106..89335814 [GRCh38]
Chr16:86983712..89402222 [GRCh37]
Chr16:85541213..87929723 [NCBI36]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3		 pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3		 likely pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258230] Chr16:87183661..89520803 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
Single allele deletion 16q24.3 microdeletion syndrome [RCV000258380] Chr16:87340135..89335428 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3 copy number gain See cases [RCV000240062] Chr16:87687199..89304429 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16q24.2(chr16:87764245-87881810)x3 copy number gain See cases [RCV000447590] Chr16:87764245..87881810 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 copy number loss See cases [RCV000510624] Chr16:85491404..87883528 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 copy number loss not provided [RCV000509325] Chr16:87219866..89561087 [GRCh37]
Chr16:16q24.2-24.3		 not provided
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 copy number gain See cases [RCV000511606] Chr16:84937273..89836905 [GRCh37]
Chr16:16q24.1-24.3		 likely pathogenic
NM_003486.7(SLC7A5):c.46G>A (p.Ala16Thr) single nucleotide variant not specified [RCV004313102] Chr16:87869377 [GRCh38]
Chr16:87902983 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3		 likely pathogenic
Single allele deletion not provided [RCV000677910] Chr16:86890893..89398630 [GRCh37]
Chr16:16q24.1-24.3		 pathogenic
GRCh37/hg19 16q24.2(chr16:87766191-87992527)x3 copy number gain not provided [RCV000683857] Chr16:87766191..87992527 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_003486.7(SLC7A5):c.31C>G (p.Leu11Val) single nucleotide variant not specified [RCV004319705] Chr16:87869392 [GRCh38]
Chr16:87902998 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2(chr16:87669407-88114637)x3 copy number gain not provided [RCV000751806] Chr16:87669407..88114637 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.597C>T (p.Ala199=) single nucleotide variant SLC7A5-related disorder [RCV003910809]|not provided [RCV000904811] Chr16:87851791 [GRCh38]
Chr16:87885397 [GRCh37]
Chr16:16q24.2		 benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_003486.7(SLC7A5):c.1043+6C>T single nucleotide variant not provided [RCV000962439] Chr16:87838708 [GRCh38]
Chr16:87872314 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.387C>T (p.Ala129=) single nucleotide variant SLC7A5-related disorder [RCV003950658]|not provided [RCV000906029] Chr16:87869036 [GRCh38]
Chr16:87902642 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.1131C>T (p.Leu377=) single nucleotide variant SLC7A5-related disorder [RCV003916262]|not provided [RCV000968730] Chr16:87837854 [GRCh38]
Chr16:87871460 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.1144G>C (p.Val382Leu) single nucleotide variant not specified [RCV004289122] Chr16:87836644 [GRCh38]
Chr16:87870250 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2(chr16:87513448-87930837)x1 copy number loss not provided [RCV000848541] Chr16:87513448..87930837 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1008C>T (p.Phe336=) single nucleotide variant not provided [RCV000961363] Chr16:87838749 [GRCh38]
Chr16:87872355 [GRCh37]
Chr16:16q24.2		 benign
GRCh37/hg19 16q24.2(chr16:87685469-87867191)x1 copy number loss not provided [RCV000846346] Chr16:87685469..87867191 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2(chr16:87662098-88059562)x3 copy number gain not provided [RCV000847099] Chr16:87662098..88059562 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3 copy number gain not provided [RCV000849210] Chr16:87848902..88809407 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_003486.7(SLC7A5):c.920C>T (p.Ser307Leu) single nucleotide variant not specified [RCV004308518] Chr16:87839721 [GRCh38]
Chr16:87873327 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87677844)_(88505740_?)dup duplication not provided [RCV003105455] Chr16:87677844..88505740 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.690C>G (p.Asn230Lys) single nucleotide variant not provided [RCV000961364] Chr16:87841130 [GRCh38]
Chr16:87874736 [GRCh37]
Chr16:16q24.2		 benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_003486.7(SLC7A5):c.668A>T (p.Asp223Val) single nucleotide variant SLC7A5-related disorder [RCV003935882]|not provided [RCV000957475] Chr16:87841152 [GRCh38]
Chr16:87874758 [GRCh37]
Chr16:16q24.2		 benign
GRCh37/hg19 16q24.2(chr16:87765473-87992527)x3 copy number gain not provided [RCV001006839] Chr16:87765473..87992527 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q24.2(chr16:87762484-88234413)x1 copy number loss not provided [RCV001258660] Chr16:87762484..88234413 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2(chr16:87728281-87982996)x1 copy number loss not provided [RCV001258662] Chr16:87728281..87982996 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87636753)_(88505740_?)del deletion Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency [RCV001381808] Chr16:87636753..88505740 [GRCh37]
Chr16:16q24.2		 pathogenic
NC_000016.9:g.(?_87636753)_(90109753_?)dup duplication Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] Chr16:87636753..90109753 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 copy number gain not provided [RCV001795551] Chr16:80386595..90163348 [GRCh37]
Chr16:16q23.2-24.3		 pathogenic
NM_003486.7(SLC7A5):c.737C>T (p.Ala246Val) single nucleotide variant Autism spectrum disorder [RCV001849610] Chr16:87841083 [GRCh38]
Chr16:87874689 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1124C>T (p.Pro375Leu) single nucleotide variant Autism spectrum disorder [RCV001849617] Chr16:87837861 [GRCh38]
Chr16:87871467 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87636753)_(89723996_?)dup duplication Mucopolysaccharidosis, MPS-IV-A [RCV001939908] Chr16:87636753..89723996 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 copy number gain Syndromic anorectal malformation [RCV002286607] Chr16:71641395..90161959 [GRCh37]
Chr16:16q22.2-24.3		 likely pathogenic
NM_003486.7(SLC7A5):c.151A>G (p.Thr51Ala) single nucleotide variant not specified [RCV004286248] Chr16:87869272 [GRCh38]
Chr16:87902878 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.2(chr16:87782799-88150144)x1 copy number loss not provided [RCV002475527] Chr16:87782799..88150144 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1426G>T (p.Val476Phe) single nucleotide variant not specified [RCV004240296] Chr16:87834456 [GRCh38]
Chr16:87868062 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1266G>T (p.Lys422Asn) single nucleotide variant not specified [RCV004212292] Chr16:87836522 [GRCh38]
Chr16:87870128 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1240G>A (p.Gly414Ser) single nucleotide variant not specified [RCV004113438] Chr16:87836548 [GRCh38]
Chr16:87870154 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1460A>G (p.Gln487Arg) single nucleotide variant not specified [RCV004184200] Chr16:87834422 [GRCh38]
Chr16:87868028 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.76A>T (p.Met26Leu) single nucleotide variant not specified [RCV004126348] Chr16:87869347 [GRCh38]
Chr16:87902953 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1303C>G (p.Leu435Val) single nucleotide variant not specified [RCV004086803] Chr16:87834579 [GRCh38]
Chr16:87868185 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.964G>A (p.Val322Ile) single nucleotide variant not specified [RCV004075314] Chr16:87838793 [GRCh38]
Chr16:87872399 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1 copy number loss not provided [RCV003222894] Chr16:86544176..88110267 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
NM_003486.7(SLC7A5):c.612G>T (p.Lys204Asn) single nucleotide variant not specified [RCV004266726] Chr16:87851776 [GRCh38]
Chr16:87885382 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1342G>A (p.Ala448Thr) single nucleotide variant not specified [RCV004262444] Chr16:87834540 [GRCh38]
Chr16:87868146 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1510C>A (p.Pro504Thr) single nucleotide variant not specified [RCV004359930] Chr16:87832984 [GRCh38]
Chr16:87866590 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1300G>A (p.Ala434Thr) single nucleotide variant not specified [RCV004364932] Chr16:87834582 [GRCh38]
Chr16:87868188 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.68G>C (p.Arg23Pro) single nucleotide variant not specified [RCV004355580] Chr16:87869355 [GRCh38]
Chr16:87902961 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1 copy number loss not provided [RCV003483302] Chr16:84555718..87910245 [GRCh37]
Chr16:16q24.1-24.2		 pathogenic
Single allele deletion KBG syndrome [RCV003388953] Chr16:87169884..89487487 [GRCh38]
Chr16:16q24.2-24.3		 pathogenic
NM_003486.7(SLC7A5):c.132G>C (p.Val44=) single nucleotide variant not provided [RCV003426886] Chr16:87869291 [GRCh38]
Chr16:87902897 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.607G>A (p.Ala203Thr) single nucleotide variant not provided [RCV003413023] Chr16:87851781 [GRCh38]
Chr16:87885387 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.17C>T (p.Pro6Leu) single nucleotide variant SLC7A5-related disorder [RCV003939642] Chr16:87869406 [GRCh38]
Chr16:87903012 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.1141-4C>A single nucleotide variant SLC7A5-related disorder [RCV003954310] Chr16:87836651 [GRCh38]
Chr16:87870257 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.345C>A (p.Gly115=) single nucleotide variant SLC7A5-related disorder [RCV003979102] Chr16:87869078 [GRCh38]
Chr16:87902684 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.-1C>T single nucleotide variant SLC7A5-related disorder [RCV003947092] Chr16:87869423 [GRCh38]
Chr16:87903029 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.1347C>G (p.Val449=) single nucleotide variant SLC7A5-related disorder [RCV003937079] Chr16:87834535 [GRCh38]
Chr16:87868141 [GRCh37]
Chr16:16q24.2		 benign
NM_003486.7(SLC7A5):c.459C>T (p.Ala153=) single nucleotide variant SLC7A5-related disorder [RCV003917020] Chr16:87868964 [GRCh38]
Chr16:87902570 [GRCh37]
Chr16:16q24.2		 likely benign
GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1 copy number loss not provided [RCV003885482] Chr16:87866576..89424113 [GRCh37]
Chr16:16q24.2-24.3		 pathogenic
NM_003486.7(SLC7A5):c.*9C>G single nucleotide variant SLC7A5-related disorder [RCV003931623] Chr16:87832961 [GRCh38]
Chr16:87866567 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.122G>A (p.Gly41Asp) single nucleotide variant SLC7A5-related disorder [RCV003906822] Chr16:87869301 [GRCh38]
Chr16:87902907 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.1290+6C>A single nucleotide variant SLC7A5-related disorder [RCV003914140] Chr16:87836492 [GRCh38]
Chr16:87870098 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.552C>G (p.Ala184=) single nucleotide variant SLC7A5-related disorder [RCV003979729] Chr16:87851836 [GRCh38]
Chr16:87885442 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.990C>T (p.Phe330=) single nucleotide variant SLC7A5-related disorder [RCV003909350] Chr16:87838767 [GRCh38]
Chr16:87872373 [GRCh37]
Chr16:16q24.2		 likely benign
NM_003486.7(SLC7A5):c.343G>A (p.Gly115Ser) single nucleotide variant not specified [RCV004456918] Chr16:87869080 [GRCh38]
Chr16:87902686 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.527G>T (p.Cys176Phe) single nucleotide variant not specified [RCV004456921] Chr16:87868896 [GRCh38]
Chr16:87902502 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.806A>G (p.Asn269Ser) single nucleotide variant not specified [RCV004456923] Chr16:87840438 [GRCh38]
Chr16:87874044 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.94G>T (p.Ala32Ser) single nucleotide variant not specified [RCV004456925] Chr16:87869329 [GRCh38]
Chr16:87902935 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1463G>T (p.Gly488Val) single nucleotide variant not specified [RCV004456914] Chr16:87834419 [GRCh38]
Chr16:87868025 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1465A>G (p.Ile489Val) single nucleotide variant not specified [RCV004456915] Chr16:87834417 [GRCh38]
Chr16:87868023 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.422G>A (p.Arg141Gln) single nucleotide variant not specified [RCV004456919] Chr16:87869001 [GRCh38]
Chr16:87902607 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.494C>T (p.Pro165Leu) single nucleotide variant not specified [RCV004456920] Chr16:87868929 [GRCh38]
Chr16:87902535 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1499T>A (p.Met500Lys) single nucleotide variant not specified [RCV004456916] Chr16:87832995 [GRCh38]
Chr16:87866601 [GRCh37]
Chr16:16q24.2		 uncertain significance
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 copy number gain not provided [RCV004577473] Chr16:82865402..90163542 [GRCh37]
Chr16:16q23.3-24.3		 pathogenic
NM_003486.7(SLC7A5):c.937G>A (p.Val313Met) single nucleotide variant not specified [RCV004456924] Chr16:87839704 [GRCh38]
Chr16:87873310 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87677844)_(87970056_?)dup duplication Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency [RCV004582756] Chr16:87677844..87970056 [GRCh37]
Chr16:16q24.2		 uncertain significance
NC_000016.9:g.(?_87636753)_(88808850_?)del deletion not provided [RCV004582843] Chr16:87636753..88808850 [GRCh37]
Chr16:16q24.2-24.3		 uncertain significance
NM_003486.7(SLC7A5):c.584G>A (p.Arg195Gln) single nucleotide variant not specified [RCV004675023] Chr16:87851804 [GRCh38]
Chr16:87885410 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.1132G>A (p.Val378Met) single nucleotide variant not specified [RCV004675024] Chr16:87837853 [GRCh38]
Chr16:87871459 [GRCh37]
Chr16:16q24.2		 uncertain significance
NM_003486.7(SLC7A5):c.577G>A (p.Ala193Thr) single nucleotide variant not specified [RCV004675025] Chr16:87851811 [GRCh38]
Chr16:87885417 [GRCh37]
Chr16:16q24.2		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR126hsa-miR-126-3pMirtarbaseexternal_infoImmunohistochemistry//Luciferase reporter assay//qFunctional MTI21439283
MIR126hsa-miR-126-3pOncomiRDBexternal_infoNANA21439283
MIR7-2hsa-miR-7-5pMirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTFunctional MTI19892711
MIR626hsa-miR-626Mirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTNon-Functional MTI19892711
MIR7-1hsa-miR-7-5pMirtarbaseexternal_infoImmunofluorescence//Luciferase reporter assay//qRTFunctional MTI19892711

Predicted Target Of
Summary Value
Count of predictions:3281
Count of miRNA genes:867
Interacting mature miRNAs:1033
Transcripts:ENST00000261622, ENST00000563489, ENST00000565644
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407309126GWAS958102_Hpyruvate measurement QTL GWAS958102 (human)1e-08pyruvate measurementblood pyruvate level (CMO:0002422)168785288487852885Human
407062721GWAS711697_HX-12100 measurement QTL GWAS711697 (human)2e-22X-12100 measurement168784276987842770Human
407386188GWAS1035164_Hobsolete_red blood cell distribution width QTL GWAS1035164 (human)2e-10obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)168785293987852940Human
407268289GWAS917265_Hkynurenine measurement QTL GWAS917265 (human)1e-108kynurenine measurement168784487087844871Human
407134797GWAS783773_Hfetal genotype effect measurement QTL GWAS783773 (human)1e-08fetal genotype effect measurement168784860387848604Human
407329101GWAS978077_Hkynurenine measurement QTL GWAS978077 (human)1e-33kynurenine measurement168784370687843707Human
407116879GWAS765855_Hmean reticulocyte volume QTL GWAS765855 (human)2e-71reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)168785312087853121Human
407288520GWAS937496_Hkynurenine measurement QTL GWAS937496 (human)5e-14kynurenine measurement168784496487844965Human
407108429GWAS757405_Hplatelet crit QTL GWAS757405 (human)2e-16platelet critplateletcrit (CMO:0001349)168785451387854514Human
407282889GWAS931865_Hbody height QTL GWAS931865 (human)2e-16body height (VT:0001253)body height (CMO:0000106)168784461387844614Human
406946133GWAS595109_Hhematocrit QTL GWAS595109 (human)2e-11hematocrithematocrit (CMO:0000037)168783426687834267Human
407001302GWAS650278_Hmean corpuscular volume QTL GWAS650278 (human)1e-71mean corpuscular volumemean corpuscular volume (CMO:0000038)168785293987852940Human
406997078GWAS646054_Hmean corpuscular hemoglobin concentration QTL GWAS646054 (human)5e-10mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)168785554987855550Human
407315154GWAS964130_HX-12100 measurement QTL GWAS964130 (human)5e-33X-12100 measurement168784320687843207Human
407136467GWAS785443_Hfetal genotype effect measurement QTL GWAS785443 (human)6e-09fetal genotype effect measurement168784860387848604Human
407063003GWAS711979_HX-12100 measurement QTL GWAS711979 (human)4e-21X-12100 measurement168784320687843207Human
407095136GWAS744112_HX-12100 measurement QTL GWAS744112 (human)6e-54X-12100 measurement168784289487842895Human
406975844GWAS624820_Hmean corpuscular hemoglobin QTL GWAS624820 (human)8e-17mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168785288487852885Human
407025002GWAS673978_HX-12100 measurement QTL GWAS673978 (human)8e-26X-12100 measurement168784057687840577Human
407006571GWAS655547_Hmean corpuscular hemoglobin QTL GWAS655547 (human)9e-52mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168785288487852885Human
407076969GWAS725945_Himidazole lactate measurement QTL GWAS725945 (human)3e-12imidazole lactate measurement168786426987864270Human
407024878GWAS673854_Hkynurenine measurement QTL GWAS673854 (human)2e-35kynurenine measurement168784446687844467Human
407050486GWAS699462_Hkynurenine measurement QTL GWAS699462 (human)0.000002kynurenine measurement168784057687840577Human
406952312GWAS601288_Hmean corpuscular volume QTL GWAS601288 (human)4e-20mean corpuscular volumemean corpuscular volume (CMO:0000038)168785288487852885Human
406978937GWAS627913_Hhemoglobin measurement QTL GWAS627913 (human)6e-13hemoglobin measurementhemoglobin measurement (CMO:0000508)168783570787835708Human
407305722GWAS954698_Hserum metabolite measurement QTL GWAS954698 (human)5e-22serum metabolite measurement168784496487844965Human
407109246GWAS758222_Hplatelet count QTL GWAS758222 (human)4e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)168785451387854514Human
407075714GWAS724690_Hkynurenine measurement QTL GWAS724690 (human)4e-91kynurenine measurement168784289487842895Human
407157127GWAS806103_Hkynurenine measurement QTL GWAS806103 (human)9e-26kynurenine measurement168784521687845217Human
407151106GWAS800082_Hchildhood onset asthma QTL GWAS800082 (human)6e-09childhood onset asthma168786597987865980Human
407065988GWAS714964_Hkynurenine measurement QTL GWAS714964 (human)1e-25kynurenine measurement168784320687843207Human
406999306GWAS648282_Hmean corpuscular volume QTL GWAS648282 (human)3e-65mean corpuscular volumemean corpuscular volume (CMO:0000038)168785288487852885Human
407074697GWAS723673_Hchronic central serous retinopathy QTL GWAS723673 (human)1e-08chronic central serous retinopathy168784053487840535Human
407194763GWAS843739_Herythrocyte measurement QTL GWAS843739 (human)2e-11erythrocyte measurementred blood cell measurement (CMO:0001356)168785293987852940Human
407116043GWAS765019_Hmean corpuscular volume QTL GWAS765019 (human)5e-63mean corpuscular volumemean corpuscular volume (CMO:0000038)168785288487852885Human
407335317GWAS984293_Hmean corpuscular hemoglobin QTL GWAS984293 (human)2e-35mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168785293987852940Human
406988304GWAS637280_Hmean corpuscular hemoglobin concentration QTL GWAS637280 (human)3e-59mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)168785293987852940Human
407042577GWAS691553_Hplatelet count QTL GWAS691553 (human)1e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)168785555487855555Human
406979862GWAS628838_Hhemoglobin measurement QTL GWAS628838 (human)4e-12hemoglobin measurementhemoglobin measurement (CMO:0000508)168783570787835708Human
406991640GWAS640616_Hmean corpuscular hemoglobin concentration QTL GWAS640616 (human)1e-55mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)168785293987852940Human
407102236GWAS751212_Hmean corpuscular hemoglobin QTL GWAS751212 (human)3e-48mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)168785288487852885Human
407032750GWAS681726_Hmean corpuscular volume QTL GWAS681726 (human)4e-60mean corpuscular volumemean corpuscular volume (CMO:0000038)168785288487852885Human
407202731GWAS851707_Hmean corpuscular volume QTL GWAS851707 (human)9e-39mean corpuscular volumemean corpuscular volume (CMO:0000038)168785312087853121Human
407337000GWAS985976_Hmean corpuscular volume QTL GWAS985976 (human)4e-43mean corpuscular volumemean corpuscular volume (CMO:0000038)168785312087853121Human
407083188GWAS732164_Hblood protein measurement QTL GWAS732164 (human)4e-15blood protein measurementblood protein measurement (CMO:0000028)168785288487852885Human
407095866GWAS744842_Hkynurenine measurement QTL GWAS744842 (human)4e-43kynurenine measurement168784289487842895Human
407042491GWAS691467_Hplatelet count QTL GWAS691467 (human)7e-27platelet quantity (VT:0003179)platelet count (CMO:0000029)168785451387854514Human
406944572GWAS593548_Hhematocrit QTL GWAS593548 (human)4e-11hematocrithematocrit (CMO:0000037)168783570787835708Human
407191736GWAS840712_Hkynurenine measurement QTL GWAS840712 (human)0.000002kynurenine measurement168784521687845217Human

Markers in Region
D16S413  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,893,875 - 87,894,132UniSTSGRCh37
Celera1672,191,177 - 72,191,434UniSTS
Cytogenetic Map16q24.3UniSTS
HuRef1673,634,381 - 73,634,640UniSTS
Marshfield Genetic Map16128.53RGD
Genethon Genetic Map16126.5UniSTS
TNG Radiation Hybrid Map1639845.0UniSTS
GeneMap99-GB4 RH Map16485.75UniSTS
RH69181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,863,754 - 87,863,919UniSTSGRCh37
Build 361686,421,255 - 86,421,420RGDNCBI36
Celera1672,161,059 - 72,161,224RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,604,244 - 73,604,409UniSTS
GeneMap99-GB4 RH Map16487.67UniSTS
NCBI RH Map16680.1UniSTS
RH47455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,863,691 - 87,863,843UniSTSGRCh37
Build 361686,421,192 - 86,421,344RGDNCBI36
Celera1672,160,996 - 72,161,148RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,604,181 - 73,604,333UniSTS
GeneMap99-GB4 RH Map16484.34UniSTS
G62517  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,879,512 - 87,879,829UniSTSGRCh37
Build 361686,437,013 - 86,437,330RGDNCBI36
Celera1672,176,813 - 72,177,130RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,620,032 - 73,620,349UniSTS
TNG Radiation Hybrid Map1639897.0UniSTS
D16S469E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,863,670 - 87,863,761UniSTSGRCh37
Build 361686,421,171 - 86,421,262RGDNCBI36
Celera1672,160,975 - 72,161,066RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,604,160 - 73,604,251UniSTS
SHGC-146188  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,884,246 - 87,884,533UniSTSGRCh37
Build 361686,441,747 - 86,442,034RGDNCBI36
Celera1672,181,548 - 72,181,835RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,624,767 - 73,625,054UniSTS
TNG Radiation Hybrid Map1639897.0UniSTS
SHGC-149947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,866,817 - 87,867,159UniSTSGRCh37
Build 361686,424,318 - 86,424,660RGDNCBI36
Celera1672,164,122 - 72,164,464RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,607,307 - 73,607,649UniSTS
TNG Radiation Hybrid Map1639905.0UniSTS
SHGC-154007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,865,750 - 87,866,094UniSTSGRCh37
Build 361686,423,251 - 86,423,595RGDNCBI36
Celera1672,163,055 - 72,163,399RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,606,240 - 73,606,584UniSTS
TNG Radiation Hybrid Map1639914.0UniSTS
SLC7A5_851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,863,628 - 87,864,365UniSTSGRCh37
Build 361686,421,129 - 86,421,866RGDNCBI36
Celera1672,160,933 - 72,161,670RGD
HuRef1673,604,118 - 73,604,855UniSTS
2084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371687,863,629 - 87,863,717UniSTSGRCh37
Build 361686,421,130 - 86,421,218RGDNCBI36
Celera1672,160,934 - 72,161,022RGD
Cytogenetic Map16q24.3UniSTS
HuRef1673,604,119 - 73,604,207UniSTS
GeneMap99-GB4 RH Map16485.55UniSTS
NCBI RH Map16682.8UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB017908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB018542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF077866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM182888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW090427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M80244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261622   ⟹   ENSP00000261622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1687,830,023 - 87,869,507 (-)Ensembl
Ensembl Acc Id: ENST00000563489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1687,832,732 - 87,836,805 (-)Ensembl
Ensembl Acc Id: ENST00000565644   ⟹   ENSP00000454323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1687,830,016 - 87,863,639 (-)Ensembl
RefSeq Acc Id: NM_003486   ⟹   NP_003477
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,830,023 - 87,869,507 (-)NCBI
GRCh371687,863,629 - 87,903,100 (-)ENTREZGENE
Build 361686,421,130 - 86,460,601 (-)NCBI Archive
HuRef1673,604,119 - 73,643,626 (-)ENTREZGENE
CHM1_11689,274,981 - 89,314,543 (-)NCBI
T2T-CHM13v2.01693,902,734 - 93,942,286 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003477   ⟸   NM_003486
- UniProtKB: Q9UP15 (UniProtKB/Swiss-Prot),   Q9UBN8 (UniProtKB/Swiss-Prot),   Q8IV97 (UniProtKB/Swiss-Prot),   Q9UQC0 (UniProtKB/Swiss-Prot),   Q01650 (UniProtKB/Swiss-Prot),   Q96QB2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000261622   ⟸   ENST00000261622
Ensembl Acc Id: ENSP00000454323   ⟸   ENST00000565644

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q01650-F1-model_v2 AlphaFold Q01650 1-507 view protein structure

Promoters
RGD ID:6815152
Promoter ID:HG_MRA:6299
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:BC014177,   CR594130
Position:
Human AssemblyChrPosition (strand)Source
Build 361686,422,494 - 86,422,994 (-)MPROMDB
RGD ID:6811042
Promoter ID:HG_ACW:32169
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SLC7A5.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361686,426,011 - 86,426,511 (-)MPROMDB
RGD ID:6811044
Promoter ID:HG_ACW:32170
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:SLC7A5.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361686,427,661 - 86,428,161 (-)MPROMDB
RGD ID:6793450
Promoter ID:HG_KWN:24440
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000269110
Position:
Human AssemblyChrPosition (strand)Source
Build 361686,460,239 - 86,460,739 (-)MPROMDB
RGD ID:7233095
Promoter ID:EPDNEW_H22293
Type:initiation region
Name:SLC7A5_2
Description:solute carrier family 7 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22294  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,860,708 - 87,860,768EPDNEW
RGD ID:7233099
Promoter ID:EPDNEW_H22294
Type:initiation region
Name:SLC7A5_1
Description:solute carrier family 7 member 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22293  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381687,869,505 - 87,869,565EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11063 AgrOrtholog
COSMIC SLC7A5 COSMIC
Ensembl Genes ENSG00000103257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261622 ENTREZGENE
  ENST00000261622.5 UniProtKB/Swiss-Prot
  ENST00000565644.5 UniProtKB/TrEMBL
Gene3D-CATH Amino acid/polyamine transporter I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103257 GTEx
HGNC ID HGNC:11063 ENTREZGENE
Human Proteome Map SLC7A5 Human Proteome Map
InterPro AA/rel_permease1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AminoAcid_Transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L_AA_transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8140 UniProtKB/Swiss-Prot
NCBI Gene 8140 ENTREZGENE
OMIM 600182 OMIM
PANTHER AMINO ACID TRANSPORTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LARGE NEUTRAL AMINO ACIDS TRANSPORTER SMALL SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AA_permease_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35923 PharmGKB
PIRSF AA_transporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGL4_HUMAN UniProtKB/TrEMBL
  LAT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2MCL6_HUMAN UniProtKB/TrEMBL
  Q8IV97 ENTREZGENE
  Q96QB2 ENTREZGENE, UniProtKB/TrEMBL
  Q9UBN8 ENTREZGENE
  Q9UP15 ENTREZGENE
  Q9UQC0 ENTREZGENE
UniProt Secondary Q8IV97 UniProtKB/Swiss-Prot
  Q9UBN8 UniProtKB/Swiss-Prot
  Q9UP15 UniProtKB/Swiss-Prot
  Q9UQC0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC7A5  solute carrier family 7 member 5    solute carrier family 7 (amino acid transporter light chain, L system), member 5  Symbol and/or name change 5135510 APPROVED
2011-07-27 SLC7A5  solute carrier family 7 (amino acid transporter light chain, L system), member 5  SLC7A5  solute carrier family 7 (cationic amino acid transporter, y+ system), member 5  Symbol and/or name change 5135510 APPROVED