GPT (glutamic--pyruvic transaminase) - Rat Genome Database

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Gene: GPT (glutamic--pyruvic transaminase) Homo sapiens
Analyze
Symbol: GPT
Name: glutamic--pyruvic transaminase
RGD ID: 734191
HGNC Page HGNC
Description: Predicted to enable pyridoxal phosphate binding activity. Predicted to be involved in several processes, including L-alanine catabolic process; cellular response to insulin stimulus; and positive regulation of gluconeogenesis. Located in extracellular exosome. Biomarker of fatty liver disease; liver cancer; liver cirrhosis; and non-alcoholic fatty liver disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAT1; alanine aminotransferase; alanine aminotransferase 1; alanine transaminase; ALT1; glutamate pyruvate transaminase 1; glutamic--alanine transaminase 1; glutamic--pyruvic transaminase 1; glutamic-alanine transaminase 1; glutamic-pyruvate transaminase (alanine aminotransferase); GPT 1; GPT1
RGD Orthologs
Mouse
Rat
Chinchilla
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,502,973 - 144,507,174 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,503,068 - 144,507,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,728,451 - 145,732,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,700,231 - 145,703,357 (+)NCBINCBI36hg18NCBI36
Build 348145,700,232 - 145,703,357NCBI
Celera8141,904,937 - 141,908,027 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,842,619 - 140,845,709 (+)NCBIHuRef
CHM1_18145,767,740 - 145,770,746 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (EXP)
(+)-schisandrin B  (ISO)
(+)-taxifolin  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(E)-thiamethoxam  (ISO)
(R)-lipoic acid  (ISO)
(R,R)-tramadol  (ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(S)-naringenin  (ISO)
1,1,2-trichloroethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichlorobenzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
1-bromopropane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
1H-1,2,4-triazole  (ISO)
2',4',6'-trihydroxyacetophenone  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-chloroethanol  (ISO)
2-methoxyethanol  (ISO)
2-methyl-6-(phenylethynyl)pyridine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-hydroxybutyric acid  (ISO)
3-methyladenine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP,ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-fluorouracil  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (ISO)
7,8-dihydroxycoumarin  (ISO)
8-Epidiosbulbin E acetate  (ISO)
9,11,13-octadecatrienoic acid  (ISO)
acephate  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (ISO)
acrolein  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
alectinib  (EXP)
all-trans-retinol  (ISO)
allethrin  (ISO)
allicin  (ISO)
alloxan  (ISO)
allyl alcohol  (ISO)
allyl isothiocyanate  (ISO)
allyl methyl disulfide  (ISO)
alpha-amanitin  (ISO)
alpha-galactosylceramide  (ISO)
alpha-linolenic acid  (ISO)
amiodarone  (EXP,ISO)
amlexanox  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
amodiaquine  (ISO)
andrographolide  (ISO)
Anetholtrithion  (ISO)
angelicin  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arachidonic acid  (ISO)
aristolochic acid  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
astragaloside IV  (ISO)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
azure A  (ISO)
baicalin  (ISO)
bentonite  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
beraprost  (ISO)
berberine  (ISO)
beta-naphthoflavone  (ISO)
Betanin  (ISO)
bezafibrate  (ISO)
bicuculline  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
boric acid  (ISO)
boron atom  (ISO)
bosentan  (ISO)
bosutinib  (EXP)
bromobenzene  (ISO)
bromodichloromethane  (ISO)
brucine  (ISO)
buprenorphine  (ISO)
buspirone  (ISO)
Butralin  (ISO)
cabozantinib  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calciol  (ISO)
capsaicin  (ISO)
carbofuran  (ISO)
carbon nanotube  (ISO)
carfilzomib  (ISO)
carnosic acid  (ISO)
carnosine  (ISO)
carvedilol  (ISO)
catalpol  (EXP)
celastrol  (ISO)
celecoxib  (ISO)
ceritinib  (EXP)
ceruletide  (ISO)
charcoal  (ISO)
chelerythrine  (ISO)
chenodeoxycholic acid  (ISO)
chlordecone  (ISO)
chlorhexidine gluconate  (ISO)
Chlorobenzilate  (ISO)
Chlorodibromomethane  (EXP,ISO)
chloroethene  (ISO)
chloroform  (ISO)
chlorogenic acid  (ISO)
chloroquine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
chrysin  (ISO)
ciprofloxacin  (ISO)
cis-caffeic acid  (ISO)
cisplatin  (EXP,ISO)
citral  (ISO)
clodronic acid  (ISO)
clotrimazole  (ISO)
cobalt dichloride  (ISO)
cobimetinib  (ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
Columbin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crizotinib  (EXP)
crocin-1  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
Curcumol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (EXP,ISO)
D-gluconic acid  (ISO)
D-glucose  (ISO)
dabrafenib  (EXP)
dantrolene  (ISO)
dapagliflozin  (ISO)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
dehydroacetic acid  (ISO)
deoxynivalenol  (ISO)
deoxypodophyllotoxin  (ISO)
dexamethasone  (ISO)
dexmedetomidine  (ISO)
dextromethorphan  (ISO)
diallyl disulfide  (ISO)
Diallyl sulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dicloxacillin  (ISO)
dicofol  (ISO)
dicrotophos  (EXP)
diethyl phthalate  (ISO)
diethylene glycol monoethyl ether  (ISO)
dihydroartemisinin  (EXP)
dimethylmercury  (ISO)
Diosbulbin B  (ISO)
dioscin  (ISO)
dioxygen  (ISO)
diquat  (EXP,ISO)
disodium selenite  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (ISO)
doxorubicin  (ISO)
duvoglustat  (ISO)
elemental boron  (ISO)
elemental selenium  (ISO)
ellagic acid  (ISO)
endosulfan  (ISO)
ergothioneine  (ISO)
eriodictyol  (ISO)
eritoran  (ISO)
ethanol  (EXP,ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
ferroheme b  (ISO)
fipronil  (ISO)
flucloxacillin  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
fomepizole  (ISO)
fosinopril  (ISO)
fructose  (ISO)
fucoidan  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
gallic acid  (EXP)
gamma-aminobutyric acid  (ISO)
gamma-hexachlorocyclohexane  (ISO)
gamma-mangostin  (ISO)
Ganoderic acid A  (ISO)
gefitinib  (EXP)
gemfibrozil  (ISO)
Geniposide  (ISO)
genistein  (ISO)
geranial  (ISO)
Ginkgoic acid  (ISO)
Ginkgolide A  (ISO)
ginkgolide B  (EXP,ISO)
ginsenoside Rg1  (ISO)
glafenine  (ISO)
glucose  (ISO)
glyburide  (ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glycyrrhizinic acid  (ISO)
glyphosate  (ISO)
gold atom  (EXP,ISO)
gold(0)  (EXP,ISO)
Guanabenz  (ISO)
GW 4064  (ISO)
GW 7647  (ISO)
halothane  (ISO)
heme b  (ISO)
heparin  (ISO)
herbacetin  (ISO)
herbicide  (ISO)
hesperidin  (ISO)
hexadecanoic acid  (EXP)
homocysteine  (ISO)
hydralazine  (ISO)
hydrogen peroxide  (ISO)
hydrogen sulfide  (ISO)
ibrutinib  (EXP)
idelalisib  (ISO)
imidacloprid  (ISO)
imiprothrin  (ISO)
inulin  (ISO)
irbesartan  (ISO)
iron atom  (ISO)
iron dextran  (ISO)
iron(0)  (ISO)
iron(3+) sulfate  (ISO)
isoniazide  (EXP,ISO)
isoproturon  (ISO)
isorhamnetin  (ISO)
kaempferol  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lapatinib  (EXP)
Lasiocarpine  (ISO)
lead diacetate  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
liquiritigenin  (ISO)
liquiritin  (ISO)
liraglutide  (ISO)
lithium atom  (ISO)
lithium hydride  (ISO)
lithocholic acid  (ISO)
losartan  (ISO)
lovastatin  (ISO)
magnesium atom  (ISO)
malathion  (ISO)
Malotilate  (ISO)
mancozeb  (ISO)
manganese dioxide  (ISO)
mangiferin  (ISO)
melatonin  (ISO)
mercury dichloride  (ISO)
mesalamine  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methoxsalen  (ISO)
methylmercury chloride  (ISO)
microcystin RR  (ISO)
mifepristone  (ISO)
monocrotaline  (ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
muscimol  (ISO)
myricitrin  (ISO)
N,N-dimethylformamide  (ISO)
N,N-dimethylglycine  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naringin  (ISO)
neohesperidin dihydrochalcone  (ISO)
nickel atom  (ISO)
nickel dichloride  (ISO)
nickel sulfate  (ISO)
nicotinamide  (ISO)
nilotinib  (EXP,ISO)
nimesulide  (ISO)
nobiletin  (ISO)
O-methyleugenol  (EXP)
octamethylcyclotetrasiloxane  (ISO)
octreotide  (ISO)
olaparib  (ISO)
oleanolic acid  (ISO)
oleic acid  (EXP)
oleuropein  (ISO)
orlistat  (ISO)
oroxylin A  (ISO)
osimertinib  (EXP)
Oxadiazon  (ISO)
oxycodone  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
patulin  (ISO)
penconazole  (ISO)
perfluorodecanoic acid  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
perindopril  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
phenylhydrazine  (ISO)
phloretin  (ISO)
phorate  (ISO)
pinocembrin  (ISO)
pioglitazone  (ISO)
piperine  (ISO)
pirinixic acid  (EXP,ISO)
polymyxin B2  (ISO)
polyphosphates  (EXP,ISO)
ponatinib  (EXP)
potassium bromate  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
propacetamol  (ISO)
prostaglandin E2  (ISO)
psoralen  (ISO)
puerarin  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP,ISO)
quercetin 3-O-beta-D-galactopyranoside  (ISO)
rac-1,2-dichloropropane  (ISO)
regorafenib  (EXP)
resveratrol  (ISO)
Retrorsine  (ISO)
rifampicin  (EXP,ISO)
rimonabant  (EXP,ISO)
rivaroxaban  (ISO)
rosmarinic acid  (ISO)
rotenone  (ISO)
rottlerin  (ISO)
Rutecarpine  (ISO)
rutin  (ISO)
ruxolitinib  (ISO)
ryanodine  (ISO)
S-allylcysteine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
salvianolic acid B  (ISO)
SB 203580  (ISO)
scopoletin  (ISO)
selenium atom  (ISO)
senecionine  (ISO)
silibinin  (ISO)
sinapic acid  (ISO)
sirolimus  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sodium nitrite  (ISO)
sodium sulfite  (EXP)
sodium tungstate  (ISO)
Soman  (ISO)
sorafenib  (EXP,ISO)
squalene  (ISO)
stattic  (ISO)
streptozocin  (ISO)
succimer  (ISO)
sucrose  (ISO)
sulfasalazine  (ISO)
sunitinib  (EXP,ISO)
syringic acid  (ISO)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tapentadol  (ISO)
taurine  (ISO)
telmisartan  (ISO)
tert-butyl hydroperoxide  (ISO)
Tesaglitazar  (ISO)
testosterone cypionate  (ISO)
tetrachloro-1,4-benzoquinone  (ISO)
tetrachloromethane  (EXP,ISO)
tetrahydrocurcumin  (ISO)
thiacloprid  (ISO)
thiamethoxam  (ISO)
thioacetamide  (ISO)
thymoquinone  (ISO)
thyroxine  (ISO)
titanium dioxide  (ISO)
tramadol  (ISO)
trans-caffeic acid  (ISO)
trelagliptin  (ISO)
trichloroethene  (ISO)
Triptolide  (EXP,ISO)
troglitazone  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
ursolic acid  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vandetanib  (EXP)
verapamil  (ISO)
vildagliptin  (ISO)
vitamin D  (ISO)
vitamin E  (ISO)
vitamin K  (ISO)
zearalenone  (ISO)
zidovudine  (ISO)
zinc atom  (ISO)
zinc molecular entity  (ISO)
zinc oxide  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zolmitriptan  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. Al-Said MS, etal., Evid Based Complement Alternat Med. 2016;2016:1867048. doi: 10.1155/2016/1867048. Epub 2016 May 12.
2. Bu Y and Yu J, Zhonghua Yi Xue Za Zhi. 2015 Oct 20;95(39):3180-3.
3. Chen JY, etal., J Ethnopharmacol. 2012 Aug 1;142(3):811-8. doi: 10.1016/j.jep.2012.06.005. Epub 2012 Jun 15.
4. Cui X, etal., Afr J Tradit Complement Altern Med. 2016 Aug 12;13(5):114-122. doi: 10.21010/ajtcam.v13i5.15. eCollection 2016.
5. GOA_HUMAN data from the GO Consortium
6. Guardiola Arévalo A, etal., Gastroenterol Hepatol. 2017 Feb;40(2):59-69. doi: 10.1016/j.gastrohep.2016.11.002. Epub 2016 Dec 20.
7. Guardiola-Arévalo A, etal., Gastroenterol Hepatol. 2018 Mar;41(3):153-162. doi: 10.1016/j.gastrohep.2017.11.003. Epub 2017 Dec 24.
8. Guijarro de Armas MG, etal., Med Clin (Barc). 2015 Jan 20;144(2):55-8. doi: 10.1016/j.medcli.2014.02.018. Epub 2014 Apr 24.
9. KEGG
10. Kim HJ, etal., Korean J Intern Med. 2019 Jan 23. pii: kjim.2018.214. doi: 10.3904/kjim.2018.214.
11. Lima de Medeiros BJ, etal., Pharmacognosy Res. 2011 Apr;3(2):79-84. doi: 10.4103/0974-8490.81954.
12. Liu R, etal., Liver Int. 2009 Mar;29(3):337-43. doi: 10.1111/j.1478-3231.2008.01862.x. Epub 2008 Aug 14.
13. Mahale AR, etal., J Int Med Res. 2018 Nov;46(11):4447-4454. doi: 10.1177/0300060518793039. Epub 2018 Sep 5.
14. Nishiura T, etal., J Anesth. 1994 Mar;8(1):87-92. doi: 10.1007/BF02482762.
15. Pagliarini R, etal., Cell Rep. 2016 Jun 7;15(10):2292-2300. doi: 10.1016/j.celrep.2016.05.014. Epub 2016 May 26.
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Pipeline to import SMPDB annotations from SMPDB into RGD
18. Qian K, etal., Diabetes Metab Res Rev. 2015 Sep;31(6):562-71. doi: 10.1002/dmrr.2655. Epub 2015 Jun 17.
19. Rafter I, etal., Int J Mol Med. 2012 Nov;30(5):1241-9. doi: 10.3892/ijmm.2012.1106. Epub 2012 Aug 23.
20. RGD automated import pipeline for gene-chemical interactions
21. Wei YL, etal., Braz J Med Biol Res. 2017 May 15;50(6):e5758. doi: 10.1590/1414-431X20175758.
22. Yang RZ, etal., Hepatology. 2009 Feb;49(2):598-607. doi: 10.1002/hep.22657.
Additional References at PubMed
PMID:49232   PMID:1931970   PMID:3192219   PMID:5581908   PMID:7114790   PMID:7114791   PMID:7361762   PMID:8125298   PMID:9119391   PMID:11863375   PMID:12358155   PMID:12477932  
PMID:12480555   PMID:12774006   PMID:14506613   PMID:15306699   PMID:15342556   PMID:15489334   PMID:16652026   PMID:17134955   PMID:17378732   PMID:17405346   PMID:17570354   PMID:17764776  
PMID:17766001   PMID:17877759   PMID:17907292   PMID:17907318   PMID:17934148   PMID:18090161   PMID:18178283   PMID:18242760   PMID:18315552   PMID:18432999   PMID:18473412   PMID:18508279  
PMID:18708042   PMID:18763311   PMID:18774966   PMID:19012630   PMID:19056867   PMID:19065605   PMID:19100265   PMID:19159884   PMID:19217453   PMID:19232448   PMID:19303161   PMID:19360321  
PMID:19370784   PMID:19393479   PMID:19687577   PMID:19938201   PMID:20032584   PMID:20190678   PMID:20205615   PMID:20387481   PMID:20433554   PMID:20872970   PMID:20961180   PMID:20972737  
PMID:21040936   PMID:21199427   PMID:21692932   PMID:21715038   PMID:21720553   PMID:21873635   PMID:21987480   PMID:21988832   PMID:22132177   PMID:22140488   PMID:22158663   PMID:22177542  
PMID:22242166   PMID:22293393   PMID:22352690   PMID:22357454   PMID:22389715   PMID:22954960   PMID:22975640   PMID:23119080   PMID:23384374   PMID:23403445   PMID:23522007   PMID:23667618  
PMID:23794308   PMID:23880909   PMID:23884827   PMID:24158044   PMID:24205292   PMID:24275711   PMID:24324749   PMID:24349501   PMID:24500143   PMID:24691744   PMID:24819732   PMID:24849491  
PMID:24937007   PMID:24953204   PMID:25145475   PMID:25201988   PMID:25219834   PMID:25272068   PMID:25437895   PMID:25543901   PMID:25874513   PMID:26160405   PMID:26290281   PMID:26344197  
PMID:26446640   PMID:26496610   PMID:26632395   PMID:26664483   PMID:26791191   PMID:26791408   PMID:27260292   PMID:27304617   PMID:27390880   PMID:27430334   PMID:27935953   PMID:28007909  
PMID:28415934   PMID:28540298   PMID:28540984   PMID:28628604   PMID:28796937   PMID:29192630   PMID:29553104   PMID:29897928   PMID:30134916   PMID:30204299   PMID:30333032   PMID:30453754  
PMID:30566759   PMID:30946812   PMID:30973940   PMID:31753913   PMID:31900314   PMID:32139603   PMID:32157800   PMID:32235678   PMID:32386449   PMID:32849256   PMID:33408301   PMID:33961781  
PMID:34099767   PMID:34315874  


Genomics

Comparative Map Data
GPT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,502,973 - 144,507,174 (+)EnsemblGRCh38hg38GRCh38
GRCh388144,503,068 - 144,507,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,728,451 - 145,732,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,700,231 - 145,703,357 (+)NCBINCBI36hg18NCBI36
Build 348145,700,232 - 145,703,357NCBI
Celera8141,904,937 - 141,908,027 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,842,619 - 140,845,709 (+)NCBIHuRef
CHM1_18145,767,740 - 145,770,746 (+)NCBICHM1_1
Gpt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,580,926 - 76,583,875 (+)NCBIGRCm39mm39
GRCm39 Ensembl1576,579,916 - 76,583,886 (+)Ensembl
GRCm381576,696,726 - 76,699,675 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,695,716 - 76,699,686 (+)EnsemblGRCm38mm10GRCm38
MGSCv371576,527,194 - 76,530,105 (+)NCBIGRCm37mm9NCBIm37
MGSCv361576,524,016 - 76,526,930 (+)NCBImm8
Celera1578,190,374 - 78,193,285 (+)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1536.28NCBI
Gpt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,416,646 - 108,419,495 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl7108,416,642 - 108,419,494 (+)Ensembl
Rnor_6.07117,759,083 - 117,761,932 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,759,083 - 117,761,931 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,745,308 - 117,749,938 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,746,054 - 114,748,903 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,766,538 - 104,769,387 (+)NCBICelera
Cytogenetic Map7q34NCBI
Gpt
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554543,127,997 - 3,132,459 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554543,127,997 - 3,132,459 (+)NCBIChiLan1.0ChiLan1.0
GPT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,923,757 - 37,927,843 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,924,422 - 37,926,156 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,884,479 - 37,888,507 (+)NCBI
ROS_Cfam_1.01338,397,476 - 38,401,488 (+)NCBI
UMICH_Zoey_3.11338,089,429 - 38,093,531 (+)NCBI
UNSW_CanFamBas_1.01338,197,829 - 38,201,856 (+)NCBI
UU_Cfam_GSD_1.01338,674,294 - 38,678,329 (+)NCBI
Gpt
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303339,711 - 344,808 (-)NCBI
SpeTri2.0NW_0049364707,765,810 - 7,770,837 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP1R16A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4297,748 - 320,056 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14302,621 - 320,048 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24393,621 - 411,067 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GPT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,716,802 - 138,721,421 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,718,767 - 138,721,251 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,133,510 - 1,138,125 (-)NCBIVero_WHO_p1.0
Gpt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,355,476 - 12,359,910 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D11S1356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,915,985 - 117,916,099UniSTSGRCh37
GRCh3711117,915,948 - 117,917,320UniSTSGRCh37
GRCh3711117,915,948 - 117,916,142UniSTSGRCh37
Build 3611117,421,158 - 117,421,352RGDNCBI36
Celera11115,073,796 - 115,073,990RGD
Celera11115,073,796 - 115,075,168UniSTS
Celera11115,073,833 - 115,073,947UniSTS
Cytogenetic Map11q23.3-q24UniSTS
HuRef11113,849,592 - 113,849,786UniSTS
HuRef11113,849,592 - 113,850,964UniSTS
HuRef11113,849,629 - 113,849,743UniSTS
Marshfield Genetic Map11113.4UniSTS
Marshfield Genetic Map11113.4RGD
Genethon Genetic Map11118.6UniSTS
TNG Radiation Hybrid Map1154476.0UniSTS
deCODE Assembly Map11120.33UniSTS
GeneMap99-GB4 RH Map11380.67UniSTS
Whitehead-RH Map11524.7UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH80745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,732,413 - 145,732,544UniSTSGRCh37
Build 368145,703,221 - 145,703,352RGDNCBI36
Celera8141,907,885 - 141,908,016RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,845,567 - 140,845,698UniSTS
GeneMap99-GB4 RH Map8565.53UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3047
Count of miRNA genes:941
Interacting mature miRNAs:1167
Transcripts:ENST00000354769, ENST00000394955, ENST00000527165, ENST00000527961, ENST00000528431, ENST00000531330, ENST00000534702
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 708 684 515 521 142 410 3019 1104 980 161 258 43 111 945 1880 2
Low 1707 1745 1199 102 886 52 1219 1061 2720 235 1160 1507 62 259 899 4
Below cutoff 24 544 12 1 813 3 113 30 32 23 39 61 1 1 9 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC084125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI283141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP275218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF444981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB901540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC958949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U70732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,504,140 - 144,504,936 (+)Ensembl
RefSeq Acc Id: ENST00000394955   ⟹   ENSP00000378408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,504,140 - 144,507,172 (+)Ensembl
RefSeq Acc Id: ENST00000527165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,503,737 - 144,506,405 (+)Ensembl
RefSeq Acc Id: ENST00000527961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,504,221 - 144,505,139 (+)Ensembl
RefSeq Acc Id: ENST00000528431   ⟹   ENSP00000433586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,502,973 - 144,507,174 (+)Ensembl
RefSeq Acc Id: ENST00000531330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,504,140 - 144,504,836 (+)Ensembl
RefSeq Acc Id: ENST00000534702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,504,140 - 144,506,125 (+)Ensembl
RefSeq Acc Id: NM_001382664   ⟹   NP_001369593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,503,068 - 144,507,172 (+)NCBI
RefSeq Acc Id: NM_001382665   ⟹   NP_001369594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,503,068 - 144,507,172 (+)NCBI
RefSeq Acc Id: NM_005309   ⟹   NP_005300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
GRCh378145,729,465 - 145,732,555 (+)ENTREZGENE
Build 368145,700,231 - 145,703,357 (+)NCBI Archive
HuRef8140,842,619 - 140,845,709 (+)ENTREZGENE
CHM1_18145,767,740 - 145,770,746 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168476
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
RefSeq Acc Id: NR_168477
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,140 - 144,507,172 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_005300   ⟸   NM_005309
- UniProtKB: P24298 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369594   ⟸   NM_001382665
RefSeq Acc Id: NP_001369593   ⟸   NM_001382664
RefSeq Acc Id: ENSP00000378408   ⟸   ENST00000394955
RefSeq Acc Id: ENSP00000433586   ⟸   ENST00000528431

Promoters
RGD ID:7214489
Promoter ID:EPDNEW_H12991
Type:multiple initiation site
Name:GPT_2
Description:glutamic--pyruvic transaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12992  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,502,975 - 144,503,035EPDNEW
RGD ID:7214491
Promoter ID:EPDNEW_H12992
Type:multiple initiation site
Name:GPT_1
Description:glutamic--pyruvic transaminase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12991  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,504,141 - 144,504,201EPDNEW
RGD ID:6806670
Promoter ID:HG_KWN:62358
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000354769
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,699,791 - 145,700,647 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005309.3(GPT):c.40C>G (p.His14Asp) single nucleotide variant GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM [RCV000017468] Chr8:144504344 [GRCh38]
Chr8:145729727 [GRCh37]
Chr8:8q24.3
benign
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144375621-144605333)x3 copy number gain See cases [RCV000052188] Chr8:144375621..144605333 [GRCh38]
Chr8:145599310..145830717 [GRCh37]
Chr8:145570118..145801525 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8q24.3(chr8:144468986-144535245)x3 copy number gain See cases [RCV000140675] Chr8:144468986..144535245 [GRCh38]
Chr8:145694369..145760629 [GRCh37]
Chr8:145665177..145731437 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145600952-145834119)x3 copy number gain See cases [RCV000203425] Chr8:145600952..145834119 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145603153-145811230)x3 copy number gain See cases [RCV000239970] Chr8:145603153..145811230 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145755918)x3 copy number gain not provided [RCV000748024] Chr8:145638753..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145772939)x3 copy number gain not provided [RCV000748027] Chr8:145638753..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145638753-145758635)x3 copy number gain not provided [RCV000748025] Chr8:145638753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145638753-145763152)x3 copy number gain not provided [RCV000748026] Chr8:145638753..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634413-145753161)x3 copy number gain not provided [RCV000748021] Chr8:145634413..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145579325-145758635)x3 copy number gain not provided [RCV000748019] Chr8:145579325..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145580535-145755918)x3 copy number gain not provided [RCV000748020] Chr8:145580535..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145634556-145772939)x3 copy number gain not provided [RCV000748022] Chr8:145634556..145772939 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145655903-145742879)x1 copy number loss not provided [RCV000748028] Chr8:145655903..145742879 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758635)x3 copy number gain not provided [RCV000748034] Chr8:145667662..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145758661)x3 copy number gain not provided [RCV000748035] Chr8:145667662..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667662-145763152)x3 copy number gain not provided [RCV000748036] Chr8:145667662..145763152 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145667664-145755918)x3 copy number gain not provided [RCV000748037] Chr8:145667664..145755918 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145692296-145753271)x1 copy number loss not provided [RCV000748038] Chr8:145692296..145753271 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.327G>A (p.Glu109=) single nucleotide variant not provided [RCV000893607] Chr8:144504845 [GRCh38]
Chr8:145730228 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.567C>T (p.Tyr189=) single nucleotide variant not provided [RCV000916739] Chr8:144505317 [GRCh38]
Chr8:145730700 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.796C>G (p.Arg266Gly) single nucleotide variant not provided [RCV000963655] Chr8:144505904 [GRCh38]
Chr8:145731287 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.231G>A (p.Arg77=) single nucleotide variant not provided [RCV000882210] Chr8:144504672 [GRCh38]
Chr8:145730055 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.381C>T (p.Ser127=) single nucleotide variant not provided [RCV000919908] Chr8:144505017 [GRCh38]
Chr8:145730400 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.600C>T (p.Gly200=) single nucleotide variant not provided [RCV000971327] Chr8:144505350 [GRCh38]
Chr8:145730733 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.306C>T (p.Asp102=) single nucleotide variant not provided [RCV000897795] Chr8:144504824 [GRCh38]
Chr8:145730207 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.840C>T (p.Tyr280=) single nucleotide variant not provided [RCV000894782] Chr8:144506015 [GRCh38]
Chr8:145731398 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.32C>A (p.Ala11Glu) single nucleotide variant not provided [RCV000882373] Chr8:144504336 [GRCh38]
Chr8:145729719 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.320G>A (p.Arg107Lys) single nucleotide variant not provided [RCV000953147] Chr8:144504838 [GRCh38]
Chr8:145730221 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.441C>T (p.Ile147=) single nucleotide variant not provided [RCV000924117] Chr8:144505077 [GRCh38]
Chr8:145730460 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_005309.3(GPT):c.1434G>A (p.Arg478=) single nucleotide variant not provided [RCV000979251] Chr8:144506943 [GRCh38]
Chr8:145732326 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.592G>C (p.Glu198Gln) single nucleotide variant not provided [RCV000976662] Chr8:144505342 [GRCh38]
Chr8:145730725 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145695493-145798535)x3 copy number gain not provided [RCV000847278] Chr8:145695493..145798535 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145645435-145881333)x1 copy number loss not provided [RCV000846781] Chr8:145645435..145881333 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
NM_005309.3(GPT):c.174G>A (p.Lys58=) single nucleotide variant not provided [RCV000886544] Chr8:144504615 [GRCh38]
Chr8:145729998 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.956+9G>A single nucleotide variant not provided [RCV000933556] Chr8:144506140 [GRCh38]
Chr8:145731523 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.766G>C (p.Glu256Gln) single nucleotide variant not provided [RCV000906151] Chr8:144505874 [GRCh38]
Chr8:145731257 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.676G>T (p.Gly226Cys) single nucleotide variant not provided [RCV000955399] Chr8:144505426 [GRCh38]
Chr8:145730809 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.1280G>A (p.Arg427His) single nucleotide variant not provided [RCV000933701] Chr8:144506649 [GRCh38]
Chr8:145732032 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.252+10C>T single nucleotide variant not provided [RCV000913502] Chr8:144504703 [GRCh38]
Chr8:145730086 [GRCh37]
Chr8:8q24.3
likely benign
NM_005309.3(GPT):c.1287+8G>A single nucleotide variant not provided [RCV000913876] Chr8:144506664 [GRCh38]
Chr8:145732047 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.1288G>C (p.Glu430Gln) single nucleotide variant not provided [RCV000890174] Chr8:144506731 [GRCh38]
Chr8:145732114 [GRCh37]
Chr8:8q24.3
benign
NM_005309.3(GPT):c.1354G>C (p.Val452Leu) single nucleotide variant not provided [RCV000890175] Chr8:144506797 [GRCh38]
Chr8:145732180 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4552 AgrOrtholog
COSMIC GPT COSMIC
Ensembl Genes ENSG00000167701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000378408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433586 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000394955 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528431 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.640.10 UniProtKB/Swiss-Prot
  3.90.1150.10 UniProtKB/Swiss-Prot
GTEx ENSG00000167701 GTEx
HGNC ID HGNC:4552 ENTREZGENE
Human Proteome Map GPT Human Proteome Map
InterPro Aminotransferase_I/II UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_dom1 UniProtKB/Swiss-Prot
  PyrdxlP-dep_Trfase_major UniProtKB/Swiss-Prot
KEGG Report hsa:2875 UniProtKB/Swiss-Prot
NCBI Gene 2875 ENTREZGENE
OMIM 138200 OMIM
Pfam Aminotran_1_2 UniProtKB/Swiss-Prot
PharmGKB GPT RGD, PharmGKB
Superfamily-SCOP SSF53383 UniProtKB/Swiss-Prot
UniProt ALAT1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B0YJ18 UniProtKB/Swiss-Prot
  D3DWM7 UniProtKB/Swiss-Prot
  P78398 UniProtKB/Swiss-Prot
  Q93076 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 GPT  glutamic--pyruvic transaminase    glutamic-pyruvate transaminase (alanine aminotransferase)  Symbol and/or name change 5135510 APPROVED