ALDH1A1 (aldehyde dehydrogenase 1 family member A1) - Rat Genome Database

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Gene: ALDH1A1 (aldehyde dehydrogenase 1 family member A1) Homo sapiens
Analyze
Symbol: ALDH1A1
Name: aldehyde dehydrogenase 1 family member A1
RGD ID: 736747
HGNC Page HGNC:402
Description: Enables 3-deoxyglucosone dehydrogenase activity. Involved in cellular detoxification of aldehyde and fructosamine catabolic process. Located in cytosol. Biomarker of pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3-deoxyglucosone dehydrogenase; acetaldehyde dehydrogenase 1; ALDC; aldehyde dehydrogenase 1 family, member A1; aldehyde dehydrogenase 1, soluble; aldehyde dehydrogenase 1A1; aldehyde dehydrogenase family 1 member A1; aldehyde dehydrogenase family 1, member a1; aldehyde dehydrogenase, cytosolic; aldehyde dehydrogenase, liver cytosolic; ALDH class 1; ALDH-E1; ALDH1; ALDH11; ALHDII; epididymis luminal protein 12; epididymis luminal protein 9; epididymis secretory sperm binding protein Li 53e; HEL-9; HEL-S-53e; HEL12; MGC2318; PUMB1; RALDH 1; RALDH1; retinal dehydrogenase 1; retinaldehyde dehydrogenase 1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38972,900,671 - 72,953,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl972,900,671 - 73,080,442 (-)EnsemblGRCh38hg38GRCh38
GRCh37975,515,587 - 75,567,969 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,705,407 - 74,757,789 (-)NCBINCBI36Build 36hg18NCBI36
Build 34972,745,141 - 72,797,523NCBI
Celera946,088,447 - 46,140,830 (-)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef945,338,144 - 45,390,773 (-)NCBIHuRef
CHM1_1975,662,616 - 75,715,255 (-)NCBICHM1_1
T2T-CHM13v2.0985,051,589 - 85,103,957 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP,ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (EXP)
1-nitropropane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-[cyclohexyl(oxo)methyl]-3,6,7,11b-tetrahydro-1H-pyrazino[2,1-a]isoquinolin-4-one  (ISO)
2-acetamidofluorene  (ISO)
2-amino-4,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-hexenal  (ISO)
2-nitro-p-phenylenediamine  (ISO)
2-nitroanisole  (ISO)
2-nitrofluorene  (ISO)
2-nitropropane  (ISO)
22-Hydroxycholesterol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4'-hydroxyacetophenone  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(diethylamino)benzaldehyde  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-acetylaminofluorene  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-Amino-2-nitrophenol  (ISO)
4-dimethylaminocinnamaldehyde  (EXP)
4-hydroperoxycyclophosphamide  (EXP)
4-hydroxynon-2-enal  (EXP,ISO)
4-nitro-1,2-phenylenediamine  (ISO)
4-nitrophenol  (EXP)
4-nitrophenyl acetate  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
5-Hydroxythalidomide  (EXP,ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-bromoindirubin-3'-oxime  (EXP)
6-propyl-2-thiouracil  (ISO)
7H-xanthine  (EXP)
8-Br-cAMP  (EXP)
9-cis-retinal  (EXP,ISO)
9H-xanthine  (EXP)
acetaldehyde  (EXP,ISO)
acetamide  (ISO)
acetic acid  (EXP)
acetylsalicylic acid  (ISO)
acrolein  (EXP,ISO)
actinomycin D  (EXP)
adenosine 5'-monophosphate  (EXP)
aflatoxin B1  (EXP,ISO)
Aldophosphamide  (EXP)
all-trans-retinal  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
allopurinol  (ISO)
alpha-hexachlorocyclohexane  (ISO)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
amphetamine  (ISO)
anthracen-2-amine  (ISO)
Aroclor 1254  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP,ISO)
auramine O  (EXP)
azathioprine  (ISO)
bacitracin  (ISO)
benzaldehyde  (ISO)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzophenone  (ISO)
benzyl isothiocyanate  (ISO)
beta-naphthoflavone  (ISO)
bifenthrin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butylated hydroxyanisole  (ISO)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcitriol  (EXP,ISO)
captan  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
casticin  (EXP)
CGP 52608  (EXP)
chloroform  (ISO)
chlorohydrocarbon  (ISO)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
ciglitazone  (ISO)
cimetidine  (EXP)
ciprofibrate  (ISO)
ciprofloxacin  (EXP)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clomipramine  (ISO)
clothianidin  (ISO)
clozapine  (ISO)
cobalt atom  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
corn oil  (ISO)
coumarin  (ISO)
CU-O LINKAGE  (EXP)
curcumin  (EXP,ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
cyhalothrin  (ISO)
cyproconazole  (EXP,ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diallyl trisulfide  (EXP)
diamminedichloroplatinum  (EXP)
diarsenic trioxide  (EXP,ISO)
dibenzofurans  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dichlorvos  (ISO)
dicrotophos  (EXP)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diheptyl phthalate  (ISO)
diiodine  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
disulfiram  (EXP,ISO)
diuron  (ISO)
doxorubicin  (ISO)
Echimidine  (ISO)
endosulfan  (ISO)
enilconazole  (EXP,ISO)
epoxiconazole  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethoxyquin  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
felbamate  (ISO)
fentin chloride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (EXP,ISO)
folpet  (ISO)
fumonisin B1  (ISO)
furan  (ISO)
furosemide  (ISO)
gadodiamide hydrate  (EXP)
gemcitabine  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
glutathione  (ISO)
graphene oxide  (ISO)
Heliotrine  (ISO)
hexanal  (EXP)
hydrogen peroxide  (EXP)
imipramine  (ISO)
indirubin-3'-monoxime  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
irinotecan  (EXP)
ketoconazole  (ISO)
L-ethionine  (ISO)
lapatinib  (EXP)
Lasiocarpine  (ISO)
lead diacetate  (EXP)
Licochalcone B  (EXP)
limonin  (EXP)
lipopolysaccharide  (ISO)
magnesium atom  (ISO)
magnesium dichloride  (ISO)
malonaldehyde  (EXP,ISO)
manganese(II) chloride  (ISO)
menadione  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP,ISO)
methylparaben  (EXP)
miconazole  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
monuron  (ISO)
Muraglitazar  (ISO)
N,N-bis(2-hydroxypropyl)nitrosamine  (ISO)
N-butyl-N-(4-hydroxybutyl)nitrosamine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-methyl-N-nitrosourea  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
N-nitrosodimethylamine  (ISO)
N-nitrosomorpholine  (ISO)
NAD zwitterion  (EXP,ISO)
NAD(+)  (EXP,ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP,ISO)
nickel subsulfide  (ISO)
niclosamide  (EXP)
nicotine  (EXP,ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
non-2-enal  (EXP)
Nutlin-3  (EXP)
ochratoxin A  (ISO)
octadecanoic acid  (EXP)
okadaic acid  (ISO)
oleic acid  (EXP)
oltipraz  (ISO)
omeprazole  (ISO)
orphenadrine  (ISO)
ozone  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP,ISO)
para-Cresidine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phencyclidine  (ISO)
phenethyl isothiocyanate  (ISO)
phenformin  (ISO)
phenobarbital  (EXP,ISO)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
progesterone  (ISO)
propanal  (EXP,ISO)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
pyrogallol  (ISO)
quartz  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
Salinomycin  (EXP)
senecionine  (ISO)
Senkirkine  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
spironolactone  (ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP)
sulindac  (ISO)
T-2 toxin  (ISO)
tacrolimus hydrate  (ISO)
tanespimycin  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
thiacloprid  (EXP,ISO)
thioacetamide  (ISO)
Thiotepa  (EXP)
titanium dioxide  (EXP,ISO)
toluene  (ISO)
trametinib  (EXP)
transplatin  (EXP)
triadimefon  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimethylarsine oxide  (ISO)
triphenyl phosphate  (EXP,ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
Tungsten carbide  (EXP)
ubiquinone-0  (EXP)
uracil  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
XAV939  (EXP)
Xmu-MP-1  (EXP)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISS)
cell projection  (IEA)
cytoplasm  (IEA,TAS)
cytosol  (IDA,IEA,TAS)
extracellular exosome  (HDA)
synapse  (ISS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Identification of pancreatic cancer invasion-related proteins by proteomic analysis. Walsh N, etal., Proteome Sci. 2009 Feb 14;7:3.
9. Multiple retinol and retinal dehydrogenases catalyze all-trans-retinoic acid biosynthesis in astrocytes. Wang C, etal., J Biol Chem. 2011 Feb 25;286(8):6542-53. Epub 2010 Dec 7.
Additional References at PubMed
PMID:224930   PMID:730161   PMID:1709013   PMID:2591967   PMID:2776714   PMID:2987944   PMID:3013004   PMID:3397064   PMID:3676276   PMID:4015823   PMID:4015840   PMID:6427007  
PMID:6723659   PMID:8214422   PMID:8493914   PMID:9166904   PMID:9240474   PMID:9723161   PMID:12081471   PMID:12174908   PMID:12477932   PMID:12693930   PMID:12941160   PMID:14506398  
PMID:14678778   PMID:15489334   PMID:15597079   PMID:15623782   PMID:16189514   PMID:16857736   PMID:16878979   PMID:17175089   PMID:17222227   PMID:17286337   PMID:17502835   PMID:17628022  
PMID:18029348   PMID:18082256   PMID:18331377   PMID:18343808   PMID:18371393   PMID:18450747   PMID:18496131   PMID:18644979   PMID:18848913   PMID:18854779   PMID:19018242   PMID:19025616  
PMID:19056867   PMID:19129088   PMID:19199708   PMID:19296407   PMID:19329942   PMID:19343046   PMID:19385968   PMID:19447584   PMID:19450560   PMID:19478994   PMID:19696793   PMID:19703508  
PMID:19706361   PMID:19774675   PMID:19808966   PMID:19874574   PMID:19911270   PMID:20010854   PMID:20019840   PMID:20142235   PMID:20228222   PMID:20379614   PMID:20422001   PMID:20516116  
PMID:20585849   PMID:20596639   PMID:20606680   PMID:20634891   PMID:20889728   PMID:20959018   PMID:20959469   PMID:21045151   PMID:21098716   PMID:21118965   PMID:21231983   PMID:21282737  
PMID:21336637   PMID:21371077   PMID:21399615   PMID:21441790   PMID:21482329   PMID:21695188   PMID:21708005   PMID:21804471   PMID:21827011   PMID:21873635   PMID:21907803   PMID:21988832  
PMID:22005464   PMID:22012766   PMID:22014057   PMID:22080062   PMID:22098156   PMID:22101256   PMID:22115706   PMID:22123295   PMID:22131125   PMID:22195027   PMID:22260461   PMID:22380773  
PMID:22407396   PMID:22417385   PMID:22430847   PMID:22544210   PMID:22561685   PMID:22581680   PMID:22591209   PMID:22608744   PMID:22617249   PMID:22649953   PMID:22710732   PMID:22725270  
PMID:22782852   PMID:22877687   PMID:22878609   PMID:22887839   PMID:22899292   PMID:22928012   PMID:22930220   PMID:22938492   PMID:23005595   PMID:23084350   PMID:23112116   PMID:23132408  
PMID:23220285   PMID:23236537   PMID:23252868   PMID:23267077   PMID:23295229   PMID:23332924   PMID:23376485   PMID:23383108   PMID:23434145   PMID:23438482   PMID:23444097   PMID:23454351  
PMID:23465277   PMID:23483187   PMID:23533145   PMID:23585015   PMID:23707659   PMID:23759596   PMID:23762304   PMID:23787917   PMID:23799031   PMID:23805041   PMID:23845466   PMID:23916993  
PMID:23969936   PMID:24008128   PMID:24043631   PMID:24080087   PMID:24120944   PMID:24197864   PMID:24201124   PMID:24210755   PMID:24266898   PMID:24285422   PMID:24285572   PMID:24289252  
PMID:24327017   PMID:24374552   PMID:24422956   PMID:24450601   PMID:24464599   PMID:24485040   PMID:24511023   PMID:24519209   PMID:24596390   PMID:24599561   PMID:24670249   PMID:24671051  
PMID:24716927   PMID:24770634   PMID:24786601   PMID:24827824   PMID:24865427   PMID:24887554   PMID:24938375   PMID:24954508   PMID:25031716   PMID:25120797   PMID:25148045   PMID:25181420  
PMID:25182808   PMID:25216223   PMID:25216266   PMID:25230277   PMID:25253129   PMID:25270363   PMID:25344211   PMID:25384215   PMID:25416956   PMID:25450233   PMID:25451256   PMID:25502770  
PMID:25582316   PMID:25585687   PMID:25599843   PMID:25643237   PMID:25670168   PMID:25710579   PMID:25793304   PMID:25843691   PMID:25864109   PMID:25881507   PMID:25921687   PMID:25963795  
PMID:25999351   PMID:26046383   PMID:26063415   PMID:26070788   PMID:26080709   PMID:26130650   PMID:26148881   PMID:26160842   PMID:26175266   PMID:26209609   PMID:26230297   PMID:26254374  
PMID:26298632   PMID:26305673   PMID:26358078   PMID:26391478   PMID:26398662   PMID:26399460   PMID:26449187   PMID:26456957   PMID:26462023   PMID:26517640   PMID:26572760   PMID:26617768  
PMID:26625750   PMID:26676482   PMID:26682730   PMID:26894647   PMID:26896768   PMID:26907783   PMID:26934553   PMID:26975188   PMID:27000059   PMID:27035162   PMID:27152521   PMID:27239845  
PMID:27272809   PMID:27290698   PMID:27368476   PMID:27380877   PMID:27461829   PMID:27542268   PMID:27620279   PMID:27630305   PMID:27696244   PMID:27768764   PMID:27789528   PMID:27813328  
PMID:27832750   PMID:27891591   PMID:28106104   PMID:28122543   PMID:28129349   PMID:28184944   PMID:28193222   PMID:28205523   PMID:28244015   PMID:28280079   PMID:28295901   PMID:28383433  
PMID:28415606   PMID:28418868   PMID:28449663   PMID:28476825   PMID:28514442   PMID:28604744   PMID:28616914   PMID:28640095   PMID:28737489   PMID:28756208   PMID:28851003   PMID:28870918  
PMID:28888039   PMID:28939082   PMID:28981387   PMID:29062075   PMID:29103772   PMID:29170132   PMID:29189260   PMID:29190005   PMID:29274322   PMID:29334844   PMID:29353288   PMID:29399699  
PMID:29516013   PMID:29665144   PMID:29685462   PMID:29704455   PMID:29725036   PMID:29739065   PMID:29748529   PMID:29752431   PMID:29753392   PMID:29791975   PMID:29891189   PMID:29902974  
PMID:29948941   PMID:30013043   PMID:30166520   PMID:30287243   PMID:30292490   PMID:30305380   PMID:30307804   PMID:30575818   PMID:30583585   PMID:30695588   PMID:30907484   PMID:31027318  
PMID:31106493   PMID:31131824   PMID:31138432   PMID:31187490   PMID:31444928   PMID:31527668   PMID:31534014   PMID:31628941   PMID:31665232   PMID:31678145   PMID:31695757   PMID:31768017  
PMID:31811857   PMID:31923393   PMID:32044720   PMID:32189581   PMID:32369651   PMID:32588101   PMID:32814053   PMID:32825960   PMID:32951453   PMID:33024031   PMID:33053323   PMID:33064013  
PMID:33068330   PMID:33110235   PMID:33288566   PMID:33460998   PMID:33495566   PMID:33527427   PMID:33610537   PMID:33961781   PMID:34057116   PMID:34099751   PMID:34211078   PMID:34428540  
PMID:34491453   PMID:34580061   PMID:34897678   PMID:34974299   PMID:35090523   PMID:35162954   PMID:35194895   PMID:35225452   PMID:35271311   PMID:35328460   PMID:35412614   PMID:35562734  
PMID:35575683   PMID:35578164   PMID:35606478   PMID:35681168   PMID:35909581   PMID:35944360   PMID:36162455   PMID:36273042   PMID:36504325   PMID:36552781   PMID:36768723   PMID:37249063  
PMID:37298333   PMID:38169509   PMID:38245532   PMID:38400679  


Genomics

Comparative Map Data
ALDH1A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38972,900,671 - 72,953,053 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl972,900,671 - 73,080,442 (-)EnsemblGRCh38hg38GRCh38
GRCh37975,515,587 - 75,567,969 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36974,705,407 - 74,757,789 (-)NCBINCBI36Build 36hg18NCBI36
Build 34972,745,141 - 72,797,523NCBI
Celera946,088,447 - 46,140,830 (-)NCBICelera
Cytogenetic Map9q21.13NCBI
HuRef945,338,144 - 45,390,773 (-)NCBIHuRef
CHM1_1975,662,616 - 75,715,255 (-)NCBICHM1_1
T2T-CHM13v2.0985,051,589 - 85,103,957 (-)NCBIT2T-CHM13v2.0
Aldh1a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391920,469,947 - 20,620,827 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1920,470,079 - 20,620,829 (+)EnsemblGRCm39 Ensembl
GRCm381920,492,583 - 20,643,463 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1920,492,715 - 20,643,465 (+)EnsemblGRCm38mm10GRCm38
MGSCv371920,676,472 - 20,717,952 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361920,669,079 - 20,710,559 (+)NCBIMGSCv36mm8
Celera1921,323,202 - 21,366,435 (+)NCBICelera
Cytogenetic Map19BNCBI
cM Map1913.91NCBI
Aldh1a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81227,426,939 - 227,579,497 (+)NCBIGRCr8
mRatBN7.21218,000,470 - 218,152,962 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1218,042,127 - 218,152,961 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1226,448,507 - 226,490,531 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01233,385,074 - 233,427,098 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01226,203,095 - 226,245,121 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01238,222,689 - 238,264,381 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1238,222,521 - 238,264,330 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01245,340,587 - 245,562,970 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,731,675 - 223,773,285 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11223,895,697 - 223,937,307 (+)NCBI
Celera1215,379,207 - 215,421,068 (+)NCBICelera
Cytogenetic Map1q51NCBI
ALDH1A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21172,085,972 - 72,265,332 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1972,091,914 - 72,271,273 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0951,737,305 - 51,916,648 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1971,680,352 - 71,859,144 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl971,680,890 - 71,814,085 (-)Ensemblpanpan1.1panPan2
ALDH1A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1184,940,411 - 84,994,789 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl184,940,411 - 84,994,789 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha185,406,217 - 85,460,597 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0185,390,369 - 85,444,756 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl185,390,360 - 85,444,756 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1185,159,477 - 85,213,817 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0184,862,384 - 84,917,606 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0185,621,439 - 85,676,732 (+)NCBIUU_Cfam_GSD_1.0
Aldh1a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947132,159,211 - 132,303,931 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365038,868,961 - 8,918,532 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365038,869,073 - 8,953,726 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH1A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,161,299 - 226,217,308 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,163,347 - 226,217,342 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21252,778,605 - 252,808,516 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH1A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11283,949,529 - 84,092,452 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1283,949,399 - 84,009,003 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603872,378,038 - 72,569,020 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh1a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624811505,101 - 563,855 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624811505,297 - 563,795 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDH1A1
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1 copy number loss See cases [RCV000052906] Chr9:72224348..77332127 [GRCh38]
Chr9:74839264..79947043 [GRCh37]
Chr9:74029084..79136863 [NCBI36]
Chr9:9q21.13-21.2
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2
pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-21.13(chr9:71079379-75905808)x1 copy number loss See cases [RCV000511817] Chr9:71079379..75905808 [GRCh37]
Chr9:9q21.11-21.13
likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 copy number gain See cases [RCV000510725] Chr9:68734571..83557267 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
NM_000689.5(ALDH1A1):c.153G>C (p.Gln51His) single nucleotide variant not specified [RCV004317352] Chr9:72940166 [GRCh38]
Chr9:75555082 [GRCh37]
Chr9:9q21.13
uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3
likely pathogenic
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 copy number gain See cases [RCV000512280] Chr9:70966262..90761254 [GRCh37]
Chr9:9q21.11-22.1
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.13-21.31(chr9:74534790-84014155)x1 copy number loss not provided [RCV000683165] Chr9:74534790..84014155 [GRCh37]
Chr9:9q21.13-21.31
pathogenic
GRCh37/hg19 9q21.11-21.32(chr9:68999534-84656998)x1 copy number loss not provided [RCV000683169] Chr9:68999534..84656998 [GRCh37]
Chr9:9q21.11-21.32
pathogenic
GRCh37/hg19 9q21.13(chr9:75519250-76155313)x3 copy number gain not provided [RCV000683136] Chr9:75519250..76155313 [GRCh37]
Chr9:9q21.13
uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:68838523-83340723)x1 copy number loss not provided [RCV000748447] Chr9:68838523..83340723 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_000689.5(ALDH1A1):c.459A>G (p.Thr153=) single nucleotide variant not provided [RCV000923573] Chr9:72927161 [GRCh38]
Chr9:75542077 [GRCh37]
Chr9:9q21.13
likely benign
NM_000689.5(ALDH1A1):c.456T>A (p.Phe152Leu) single nucleotide variant not provided [RCV000886731] Chr9:72927164 [GRCh38]
Chr9:75542080 [GRCh37]
Chr9:9q21.13
benign
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 copy number loss not provided [RCV000846367] Chr9:70974661..81829792 [GRCh37]
Chr9:9q21.11-21.31
pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3
pathogenic
NM_000689.5(ALDH1A1):c.633+7C>A single nucleotide variant not provided [RCV000883278] Chr9:72925477 [GRCh38]
Chr9:75540393 [GRCh37]
Chr9:9q21.13
benign
NM_000689.5(ALDH1A1):c.1200+8G>T single nucleotide variant not provided [RCV000953271] Chr9:72911950 [GRCh38]
Chr9:75526866 [GRCh37]
Chr9:9q21.13
benign
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2
likely pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
NM_000689.5(ALDH1A1):c.962G>A (p.Arg321Gln) single nucleotide variant not specified [RCV004109803] Chr9:72916993 [GRCh38]
Chr9:75531909 [GRCh37]
Chr9:9q21.13
uncertain significance
GRCh37/hg19 9q21.11-21.13(chr9:70966262-76901382)x3 copy number gain not provided [RCV002475692] Chr9:70966262..76901382 [GRCh37]
Chr9:9q21.11-21.13
uncertain significance
NM_000689.5(ALDH1A1):c.391C>T (p.Arg131Cys) single nucleotide variant not specified [RCV004217270] Chr9:72928943 [GRCh38]
Chr9:75543859 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.322T>A (p.Ser108Thr) single nucleotide variant not specified [RCV004232928] Chr9:72929012 [GRCh38]
Chr9:75543928 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1309A>G (p.Ile437Val) single nucleotide variant not specified [RCV004124727] Chr9:72909651 [GRCh38]
Chr9:75524567 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.667C>T (p.Pro223Ser) single nucleotide variant not specified [RCV004102997] Chr9:72924099 [GRCh38]
Chr9:75539015 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1325C>G (p.Thr442Arg) single nucleotide variant not specified [RCV004096074] Chr9:72909635 [GRCh38]
Chr9:75524551 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.428G>A (p.Arg143His) single nucleotide variant not specified [RCV004182505] Chr9:72928906 [GRCh38]
Chr9:75543822 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1444G>T (p.Gly482Cys) single nucleotide variant not specified [RCV004113008] Chr9:72901270 [GRCh38]
Chr9:75516186 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.17C>T (p.Thr6Met) single nucleotide variant not specified [RCV004223373] Chr9:72952984 [GRCh38]
Chr9:75567900 [GRCh37]
Chr9:9q21.13
likely benign
NM_000689.5(ALDH1A1):c.938A>T (p.Glu313Val) single nucleotide variant not specified [RCV004273454] Chr9:72917017 [GRCh38]
Chr9:75531933 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.550C>A (p.Leu184Met) single nucleotide variant not specified [RCV004351686] Chr9:72925567 [GRCh38]
Chr9:75540483 [GRCh37]
Chr9:9q21.13
uncertain significance
GRCh37/hg19 9q21.13(chr9:75265721-75994532)x3 copy number gain not provided [RCV003484776] Chr9:75265721..75994532 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1121C>T (p.Pro374Leu) single nucleotide variant not specified [RCV004402725] Chr9:72912037 [GRCh38]
Chr9:75526953 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1124G>T (p.Trp375Leu) single nucleotide variant not specified [RCV004402728] Chr9:72912034 [GRCh38]
Chr9:75526950 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1166A>G (p.Asn389Ser) single nucleotide variant not specified [RCV004402732] Chr9:72911992 [GRCh38]
Chr9:75526908 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.1084A>G (p.Lys362Glu) single nucleotide variant not specified [RCV004402721] Chr9:72912074 [GRCh38]
Chr9:75526990 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.185A>T (p.Lys62Met) single nucleotide variant not specified [RCV004402746] Chr9:72931006 [GRCh38]
Chr9:75545922 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.718G>A (p.Asp240Asn) single nucleotide variant not specified [RCV004402780] Chr9:72924048 [GRCh38]
Chr9:75538964 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.943A>G (p.Ile315Val) single nucleotide variant not specified [RCV004402785] Chr9:72917012 [GRCh38]
Chr9:75531928 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.449A>T (p.Asn150Ile) single nucleotide variant not specified [RCV004402763] Chr9:72927171 [GRCh38]
Chr9:75542087 [GRCh37]
Chr9:9q21.13
uncertain significance
NM_000689.5(ALDH1A1):c.530T>C (p.Ile177Thr) single nucleotide variant not specified [RCV004402768] Chr9:72925587 [GRCh38]
Chr9:75540503 [GRCh37]
Chr9:9q21.13
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:718
Count of miRNA genes:573
Interacting mature miRNAs:616
Transcripts:ENST00000297785, ENST00000376939, ENST00000419959, ENST00000446946, ENST00000482210, ENST00000493113, ENST00000493311
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.

Markers in Region
SHGC-78774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,539,607 - 75,539,890UniSTSGRCh37
Build 36974,729,427 - 74,729,710RGDNCBI36
Celera946,112,466 - 46,112,749RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,362,146 - 45,362,429UniSTS
TNG Radiation Hybrid Map925012.0UniSTS
ALDH1A1__2601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,515,491 - 75,516,290UniSTSGRCh37
Build 36974,705,311 - 74,706,110RGDNCBI36
Celera946,088,351 - 46,089,150RGD
HuRef945,338,057 - 45,338,856UniSTS
RH12740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,515,659 - 75,515,847UniSTSGRCh37
Build 36974,705,479 - 74,705,667RGDNCBI36
Celera946,088,519 - 46,088,707RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,338,225 - 45,338,413UniSTS
GeneMap99-GB4 RH Map9255.39UniSTS
HUM00D1B06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37975,515,653 - 75,515,803UniSTSGRCh37
Build 36974,705,473 - 74,705,623RGDNCBI36
Celera946,088,513 - 46,088,663RGD
Cytogenetic Map9q21.13UniSTS
HuRef945,338,219 - 45,338,369UniSTS
TNG Radiation Hybrid Map925001.0UniSTS
Stanford-G3 RH Map92091.0UniSTS
GeneMap99-G3 RH Map92046.0UniSTS


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
High 10 55 54 55 1 6 24 8 19
Medium 2364 1953 1643 557 688 401 3736 1730 3324 351 1315 1424 158 1199 2581 2
Low 33 1020 15 11 729 8 605 439 340 36 81 74 9 5 207
Below cutoff 14 4 4 207 9 11 36 6 28 46 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF003341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI074764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL591031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY338497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY390731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG773210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU668318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC025826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K03000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP893483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP893503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U28416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000297785   ⟹   ENSP00000297785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,900,671 - 72,953,053 (-)Ensembl
Ensembl Acc Id: ENST00000376939   ⟹   ENSP00000366138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,916,969 - 72,953,056 (-)Ensembl
Ensembl Acc Id: ENST00000419959   ⟹   ENSP00000388026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,924,050 - 73,080,442 (-)Ensembl
Ensembl Acc Id: ENST00000446946   ⟹   ENSP00000401361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,925,508 - 73,038,722 (-)Ensembl
Ensembl Acc Id: ENST00000482210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,923,849 - 72,952,962 (-)Ensembl
Ensembl Acc Id: ENST00000493113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl972,926,983 - 72,952,967 (-)Ensembl
Ensembl Acc Id: ENST00000493311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl973,054,055 - 73,080,395 (-)Ensembl
RefSeq Acc Id: NM_000689   ⟹   NP_000680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38972,900,671 - 72,953,053 (-)NCBI
GRCh37975,515,578 - 75,653,633 (-)NCBI
Build 36974,705,407 - 74,757,789 (-)NCBI Archive
HuRef945,338,144 - 45,390,773 (-)ENTREZGENE
CHM1_1975,662,616 - 75,715,255 (-)NCBI
T2T-CHM13v2.0985,051,589 - 85,103,957 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000680   ⟸   NM_000689
- UniProtKB: O00768 (UniProtKB/Swiss-Prot),   Q5SYR1 (UniProtKB/Swiss-Prot),   P00352 (UniProtKB/Swiss-Prot),   V9HW83 (UniProtKB/TrEMBL),   V9HVX6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000297785   ⟸   ENST00000297785
Ensembl Acc Id: ENSP00000366138   ⟸   ENST00000376939
Ensembl Acc Id: ENSP00000388026   ⟸   ENST00000419959
Ensembl Acc Id: ENSP00000401361   ⟸   ENST00000446946
Protein Domains
Aldehyde dehydrogenase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00352-F1-model_v2 AlphaFold P00352 1-501 view protein structure

Promoters
RGD ID:7215255
Promoter ID:EPDNEW_H13374
Type:initiation region
Name:ALDH1A1_1
Description:aldehyde dehydrogenase 1 family member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13375  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38972,953,053 - 72,953,113EPDNEW
RGD ID:6807228
Promoter ID:HG_KWN:63669
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000376939,   OTTHUMT00000052679,   OTTHUMT00000052681,   OTTHUMT00000052682
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,757,481 - 74,757,981 (-)MPROMDB
RGD ID:6850976
Promoter ID:EP73283
Type:multiple initiation site
Name:HS_ALDH1A1
Description:Aldehyde dehydrogenase 1 family, member A1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36974,757,789 - 74,757,849EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:402 AgrOrtholog
COSMIC ALDH1A1 COSMIC
Ensembl Genes ENSG00000165092 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297785 ENTREZGENE
  ENST00000297785.8 UniProtKB/Swiss-Prot
  ENST00000376939.5 UniProtKB/TrEMBL
  ENST00000419959.5 UniProtKB/TrEMBL
  ENST00000446946.1 UniProtKB/TrEMBL
GTEx ENSG00000165092 GTEx
HGNC ID HGNC:402 ENTREZGENE
Human Proteome Map ALDH1A1 Human Proteome Map
InterPro Ald_DH/histidinol_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_CS_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_DH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_DH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:216 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 216 ENTREZGENE
OMIM 100640 OMIM
PANTHER ALDEHYDE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RETINAL DEHYDROGENASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ALDH1A1 RGD, PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53720 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt AL1A1_HUMAN UniProtKB/Swiss-Prot
  O00768 ENTREZGENE
  P00352 ENTREZGENE
  Q5SYQ7_HUMAN UniProtKB/TrEMBL
  Q5SYQ8_HUMAN UniProtKB/TrEMBL
  Q5SYQ9_HUMAN UniProtKB/TrEMBL
  Q5SYR1 ENTREZGENE
  V9HVX6 ENTREZGENE, UniProtKB/TrEMBL
  V9HW83 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary O00768 UniProtKB/Swiss-Prot
  Q5SYR1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH1A1  aldehyde dehydrogenase 1 family member A1    aldehyde dehydrogenase 1 family, member A1  Symbol and/or name change 5135510 APPROVED