ALDH9A1 (aldehyde dehydrogenase 9 family member A1) - Rat Genome Database

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Gene: ALDH9A1 (aldehyde dehydrogenase 9 family member A1) Homo sapiens
Analyze
Symbol: ALDH9A1
Name: aldehyde dehydrogenase 9 family member A1
RGD ID: 68603
HGNC Page HGNC:412
Description: Enables oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor and small molecule binding activity. Involved in cellular aldehyde metabolic process and protein homotetramerization. Located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 4-trimethylaminobutyraldehyde dehydrogenase; aldehyde dehydrogenase (NAD+); aldehyde dehydrogenase 9 family, member A1; aldehyde dehydrogenase E3 isozyme; aldehyde dehydrogenase family 9 member A1; ALDH4; ALDH7; ALDH9; E3; formaldehyde dehydrogenase; gamma-aminobutyraldehyde dehydrogenase; R-aminobutyraldehyde dehydrogenase; TMABA-DH; TMABADH; TMABALDH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381165,662,216 - 165,698,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1165,662,216 - 165,698,562 (-)EnsemblGRCh38hg38GRCh38
GRCh371165,631,453 - 165,667,799 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,898,073 - 163,934,524 (-)NCBINCBI36Build 36hg18NCBI36
Build 341162,363,110 - 162,399,758NCBI
Celera1138,736,605 - 138,773,321 (-)NCBICelera
Cytogenetic Map1q24.1NCBI
HuRef1136,878,922 - 136,915,629 (-)NCBIHuRef
CHM1_11167,054,030 - 167,090,476 (-)NCBICHM1_1
T2T-CHM13v2.01165,008,653 - 165,044,991 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arecoline  (EXP)
arsenite(3-)  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bromobenzene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (ISO)
cannabidiol  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
ciprofibrate  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
fenpyroximate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
hydralazine  (EXP)
imidacloprid  (ISO)
indometacin  (ISO)
inulin  (ISO)
isobutanol  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methoxyacetic acid  (ISO)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
Monobutylphthalate  (ISO)
ozone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorododecanoic acid  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP)
PhIP  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
sodium arsenite  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:1799975   PMID:2071588   PMID:2925663   PMID:8112751   PMID:8269919   PMID:8645224   PMID:8786138   PMID:9417993   PMID:10702312   PMID:11790142   PMID:12477932   PMID:15893726  
PMID:16710414   PMID:18029348   PMID:18334916   PMID:19056867   PMID:19064610   PMID:19343046   PMID:19536175   PMID:19615732   PMID:20379614   PMID:20562859   PMID:20877624   PMID:21145461  
PMID:21873635   PMID:22863883   PMID:22990118   PMID:23376485   PMID:23533145   PMID:24981860   PMID:25756610   PMID:26010099   PMID:26389662   PMID:28675297   PMID:29395067   PMID:29467282  
PMID:29511337   PMID:29568061   PMID:29778605   PMID:29955894   PMID:30914451   PMID:31024071   PMID:31046837   PMID:31298480   PMID:31536960   PMID:31594818   PMID:31950832   PMID:32614325  
PMID:33060197   PMID:33417871   PMID:33545068   PMID:33957083   PMID:34079125   PMID:34383978   PMID:34672954   PMID:34732716   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35509820  
PMID:35831314   PMID:35944360   PMID:36215168   PMID:37827155  


Genomics

Comparative Map Data
ALDH9A1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381165,662,216 - 165,698,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1165,662,216 - 165,698,562 (-)EnsemblGRCh38hg38GRCh38
GRCh371165,631,453 - 165,667,799 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361163,898,073 - 163,934,524 (-)NCBINCBI36Build 36hg18NCBI36
Build 341162,363,110 - 162,399,758NCBI
Celera1138,736,605 - 138,773,321 (-)NCBICelera
Cytogenetic Map1q24.1NCBI
HuRef1136,878,922 - 136,915,629 (-)NCBIHuRef
CHM1_11167,054,030 - 167,090,476 (-)NCBICHM1_1
T2T-CHM13v2.01165,008,653 - 165,044,991 (-)NCBIT2T-CHM13v2.0
Aldh9a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391167,177,560 - 167,196,100 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1167,177,560 - 167,196,101 (+)EnsemblGRCm39 Ensembl
GRCm381167,349,963 - 167,368,530 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1167,349,991 - 167,368,532 (+)EnsemblGRCm38mm10GRCm38
MGSCv371169,280,122 - 169,298,661 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361169,186,888 - 169,204,961 (+)NCBIMGSCv36mm8
Celera1169,767,504 - 169,786,077 (+)NCBICelera
Cytogenetic Map1H2.3NCBI
cM Map174.74NCBI
Aldh9a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81382,038,679 - 82,055,478 (+)NCBIGRCr8
mRatBN7.21379,505,738 - 79,522,539 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1379,505,695 - 79,540,568 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1382,135,618 - 82,152,413 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01383,442,832 - 83,459,515 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01380,680,560 - 80,697,225 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01385,580,828 - 85,597,497 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1385,580,828 - 85,597,493 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01390,223,961 - 90,240,186 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41383,017,312 - 83,034,047 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11383,031,512 - 83,047,451 (+)NCBI
Celera1379,210,686 - 79,227,775 (+)NCBICelera
Cytogenetic Map13q24NCBI
Aldh9a1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495546210,998,147 - 11,017,360 (+)NCBIChiLan1.0ChiLan1.0
ALDH9A1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2184,066,891 - 84,103,431 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1183,735,548 - 83,772,060 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01141,094,261 - 141,130,613 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11144,883,828 - 144,919,718 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1144,883,839 - 144,919,670 (-)Ensemblpanpan1.1panPan2
ALDH9A1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13817,644,464 - 17,664,462 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3817,644,459 - 17,663,886 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3817,701,135 - 17,721,198 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03817,699,030 - 17,719,264 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.13817,698,130 - 17,718,197 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03818,049,253 - 18,069,354 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03818,343,405 - 18,363,616 (+)NCBIUU_Cfam_GSD_1.0
Aldh9a1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344101,783,295 - 101,803,263 (+)NCBIHiC_Itri_2
SpeTri2.0NW_00493648119,630,045 - 19,650,009 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ALDH9A1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1485,029,914 - 85,057,650 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2492,685,909 - 92,713,569 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ALDH9A1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12563,184,220 - 63,223,865 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605564,944,943 - 64,983,521 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aldh9a1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248263,994,183 - 4,026,696 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248263,994,188 - 4,026,437 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ALDH9A1
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000696.4(ALDH9A1):c.419G>C (p.Cys140Ser) single nucleotide variant ALDH9A1*2 POLYMORPHISM [RCV000007260] Chr1:165683019 [GRCh38]
Chr1:165652256 [GRCh37]
Chr1:1q24.1
affects|benign
GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 copy number loss See cases [RCV000051172] Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1
pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1
pathogenic
GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3 copy number gain See cases [RCV000051856] Chr1:164922655..180061589 [GRCh38]
Chr1:164891892..180030724 [GRCh37]
Chr1:163158516..178297347 [NCBI36]
Chr1:1q23.3-25.2
pathogenic
GRCh38/hg38 1q23.3-24.1(chr1:164547546-165689403)x1 copy number loss See cases [RCV000053213] Chr1:164547546..165689403 [GRCh38]
Chr1:164516783..165658640 [GRCh37]
Chr1:162783407..163925264 [NCBI36]
Chr1:1q23.3-24.1
uncertain significance
GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1 copy number loss See cases [RCV000053914] Chr1:161740907..173965154 [GRCh38]
Chr1:161710697..173934292 [GRCh37]
Chr1:159977321..172200915 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1 copy number loss See cases [RCV000053915] Chr1:162040050..167480663 [GRCh38]
Chr1:162009840..167449900 [GRCh37]
Chr1:160276464..165716524 [NCBI36]
Chr1:1q23.3-24.2
pathogenic
GRCh38/hg38 1q23.3-24.3(chr1:164036599-171252077)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053916]|See cases [RCV000053916] Chr1:164036599..171252077 [GRCh38]
Chr1:164005836..171221216 [GRCh37]
Chr1:162272460..169487840 [NCBI36]
Chr1:1q23.3-24.3
pathogenic
GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1 copy number loss See cases [RCV000143292] Chr1:163382523..175877022 [GRCh38]
Chr1:163352313..175846158 [GRCh37]
Chr1:161618937..174112781 [NCBI36]
Chr1:1q23.3-25.1
pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NM_000696.4(ALDH9A1):c.265T>C (p.Trp89Arg) single nucleotide variant Malignant tumor of prostate [RCV000205738] Chr1:165695314 [GRCh38]
Chr1:165664551 [GRCh37]
Chr1:1q24.1
uncertain significance
GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) copy number loss not provided [RCV000767779] Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1
pathogenic
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 copy number loss See cases [RCV000447098] Chr1:161676893..184071723 [GRCh37]
Chr1:1q23.3-25.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000696.4(ALDH9A1):c.1265C>T (p.Ser422Phe) single nucleotide variant Inborn genetic diseases [RCV003240425] Chr1:165667393 [GRCh38]
Chr1:165636630 [GRCh37]
Chr1:1q24.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 copy number loss not provided [RCV000736717] Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2
pathogenic
GRCh37/hg19 1q24.1(chr1:165645370-165647933)x0 copy number loss not provided [RCV000736730] Chr1:165645370..165647933 [GRCh37]
Chr1:1q24.1
benign
GRCh37/hg19 1q24.1(chr1:165664534-165767373)x1 copy number loss not provided [RCV000762727] Chr1:165664534..165767373 [GRCh37]
Chr1:1q24.1
likely benign
GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1 copy number loss not provided [RCV000849156] Chr1:163093021..168991239 [GRCh37]
Chr1:1q23.3-24.2
pathogenic
GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 copy number loss not provided [RCV000848773] Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2
pathogenic
NM_000696.4(ALDH9A1):c.23C>T (p.Ala8Val) single nucleotide variant Inborn genetic diseases [RCV003251612] Chr1:165698536 [GRCh38]
Chr1:165667773 [GRCh37]
Chr1:1q24.1
uncertain significance
GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1 copy number loss not provided [RCV001258478] Chr1:164608682..169216098 [GRCh37]
Chr1:1q23.3-24.2
likely pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) copy number loss not specified [RCV002053658] Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1
pathogenic
GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) copy number loss not specified [RCV002053680] Chr1:162330810..171532331 [GRCh37]
Chr1:1q23.3-24.3
pathogenic
NM_000696.4(ALDH9A1):c.431A>G (p.Tyr144Cys) single nucleotide variant Inborn genetic diseases [RCV002749421] Chr1:165683007 [GRCh38]
Chr1:165652244 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.22G>C (p.Ala8Pro) single nucleotide variant Inborn genetic diseases [RCV002731982] Chr1:165698537 [GRCh38]
Chr1:165667774 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.820C>T (p.Pro274Ser) single nucleotide variant Inborn genetic diseases [RCV002887661] Chr1:165679552 [GRCh38]
Chr1:165648789 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1492A>G (p.Ile498Val) single nucleotide variant Inborn genetic diseases [RCV002998598] Chr1:165663115 [GRCh38]
Chr1:165632352 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.185G>A (p.Arg62Gln) single nucleotide variant Inborn genetic diseases [RCV002976926] Chr1:165695394 [GRCh38]
Chr1:165664631 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1147A>C (p.Ile383Leu) single nucleotide variant Inborn genetic diseases [RCV002822250] Chr1:165668986 [GRCh38]
Chr1:165638223 [GRCh37]
Chr1:1q24.1
likely benign
NM_000696.4(ALDH9A1):c.1468G>C (p.Gly490Arg) single nucleotide variant Inborn genetic diseases [RCV002768470] Chr1:165663139 [GRCh38]
Chr1:165632376 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1278T>G (p.Phe426Leu) single nucleotide variant Inborn genetic diseases [RCV002641734] Chr1:165667380 [GRCh38]
Chr1:165636617 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1178A>G (p.Asp393Gly) single nucleotide variant Inborn genetic diseases [RCV003003530] Chr1:165668955 [GRCh38]
Chr1:165638192 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1484G>A (p.Arg495His) single nucleotide variant Inborn genetic diseases [RCV002931572] Chr1:165663123 [GRCh38]
Chr1:165632360 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.590G>C (p.Cys197Ser) single nucleotide variant Inborn genetic diseases [RCV002836363] Chr1:165682109 [GRCh38]
Chr1:165651346 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.967G>C (p.Glu323Gln) single nucleotide variant Inborn genetic diseases [RCV002921558] Chr1:165669414 [GRCh38]
Chr1:165638651 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.548C>T (p.Pro183Leu) single nucleotide variant Inborn genetic diseases [RCV002657237] Chr1:165682151 [GRCh38]
Chr1:165651388 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.11G>T (p.Arg4Leu) single nucleotide variant Inborn genetic diseases [RCV003309070] Chr1:165698548 [GRCh38]
Chr1:165667785 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.1090C>G (p.Leu364Val) single nucleotide variant Inborn genetic diseases [RCV003356356] Chr1:165669291 [GRCh38]
Chr1:165638528 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.110A>G (p.Asn37Ser) single nucleotide variant not provided [RCV003456675] Chr1:165698449 [GRCh38]
Chr1:165667686 [GRCh37]
Chr1:1q24.1
uncertain significance
GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1 copy number loss not provided [RCV003483966] Chr1:164571371..175708060 [GRCh37]
Chr1:1q23.3-25.1
pathogenic
NM_000696.4(ALDH9A1):c.931G>T (p.Val311Phe) single nucleotide variant not provided [RCV003456674] Chr1:165669450 [GRCh38]
Chr1:165638687 [GRCh37]
Chr1:1q24.1
uncertain significance
NM_000696.4(ALDH9A1):c.729G>A (p.Leu243=) single nucleotide variant not provided [RCV003409220] Chr1:165680547 [GRCh38]
Chr1:165649784 [GRCh37]
Chr1:1q24.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:782
Count of miRNA genes:491
Interacting mature miRNAs:530
Transcripts:ENST00000354775, ENST00000461664, ENST00000463610, ENST00000471457, ENST00000491436, ENST00000538148
Prediction methods: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.

Markers in Region
WI-12686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,638,226 - 165,638,598UniSTSGRCh37
Build 361163,904,850 - 163,905,222RGDNCBI36
Celera1138,743,382 - 138,743,754RGD
Cytogenetic Map1q23.1UniSTS
HuRef1136,885,699 - 136,886,071UniSTS
GeneMap99-GB4 RH Map1596.52UniSTS
GeneMap99-GB4 RH Map1596.62UniSTS
Whitehead-RH Map1728.7UniSTS
D1S3343  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,631,959 - 165,632,082UniSTSGRCh37
Build 361163,898,583 - 163,898,706RGDNCBI36
Celera1138,737,115 - 138,737,238RGD
Cytogenetic Map1q23.1UniSTS
HuRef1136,879,432 - 136,879,555UniSTS
GeneMap99-GB4 RH Map1596.11UniSTS
Whitehead-YAC Contig Map1 UniSTS
ALDH9A1_701.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,631,419 - 165,632,169UniSTSGRCh37
Build 361163,898,043 - 163,898,793RGDNCBI36
Celera1138,736,575 - 138,737,325RGD
HuRef1136,878,892 - 136,879,642UniSTS
WI-9287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371165,632,158 - 165,632,269UniSTSGRCh37
Build 361163,898,782 - 163,898,893RGDNCBI36
Celera1138,737,314 - 138,737,425RGD
Cytogenetic Map1q23.1UniSTS
GeneMap99-GB4 RH Map1597.77UniSTS
Whitehead-RH Map1742.2UniSTS
Whitehead-YAC Contig Map1 UniSTS


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 2437 2633 1725 623 1735 464 4357 2075 3698 415 1459 1613 175 1 1204 2788 5 2
Low 2 358 1 1 216 1 122 36 4 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF172093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000354775   ⟹   ENSP00000346827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1165,662,216 - 165,698,562 (-)Ensembl
RefSeq Acc Id: ENST00000461664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1165,680,487 - 165,698,540 (-)Ensembl
RefSeq Acc Id: ENST00000463610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1165,662,775 - 165,665,206 (-)Ensembl
RefSeq Acc Id: ENST00000471457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1165,682,825 - 165,698,513 (-)Ensembl
RefSeq Acc Id: ENST00000491436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1165,668,674 - 165,680,635 (-)Ensembl
RefSeq Acc Id: NM_000696   ⟹   NP_000687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,662,216 - 165,698,562 (-)NCBI
GRCh371165,631,449 - 165,667,900 (-)ENTREZGENE
Build 361163,898,073 - 163,934,524 (-)NCBI Archive
HuRef1136,878,922 - 136,915,629 (-)ENTREZGENE
CHM1_11167,054,030 - 167,090,476 (-)NCBI
T2T-CHM13v2.01165,008,653 - 165,044,991 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001365774   ⟹   NP_001352703
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,662,216 - 165,698,562 (-)NCBI
T2T-CHM13v2.01165,008,653 - 165,044,991 (-)NCBI
Sequence:
RefSeq Acc Id: NP_000687   ⟸   NM_000696
- Peptide Label: isoform 1
- UniProtKB: B4DX14 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001352703   ⟸   NM_001365774
- Peptide Label: isoform 2
- UniProtKB: B4DE91 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000346827   ⟸   ENST00000354775
Protein Domains
Aldehyde dehydrogenase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49189-F1-model_v2 AlphaFold P49189 1-494 view protein structure

Promoters
RGD ID:6784596
Promoter ID:HG_KWN:5982
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000083899,   OTTHUMT00000083902,   OTTHUMT00000313745
Position:
Human AssemblyChrPosition (strand)Source
Build 361163,934,036 - 163,934,536 (-)MPROMDB
RGD ID:6857976
Promoter ID:EPDNEW_H2153
Type:initiation region
Name:ALDH9A1_1
Description:aldehyde dehydrogenase 9 family member A1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381165,698,562 - 165,698,622EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:412 AgrOrtholog
COSMIC ALDH9A1 COSMIC
Ensembl Genes ENSG00000143149 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000354775 ENTREZGENE
  ENST00000354775.5 UniProtKB/Swiss-Prot
GTEx ENSG00000143149 GTEx
HGNC ID HGNC:412 ENTREZGENE
Human Proteome Map ALDH9A1 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:223 UniProtKB/Swiss-Prot
NCBI Gene 223 ENTREZGENE
OMIM 602733 OMIM
PANTHER 4-TRIMETHYLAMINOBUTYRALDEHYDE DEHYDROGENASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE DEHYDROGENASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Aldedh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24706 PharmGKB
PROSITE ALDEHYDE_DEHYDR_CYS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ALDEHYDE_DEHYDR_GLU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP ALDH-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt AL9A1_HUMAN UniProtKB/Swiss-Prot
  B4DE91 ENTREZGENE, UniProtKB/TrEMBL
  B4DX14 ENTREZGENE, UniProtKB/TrEMBL
  P49189 ENTREZGENE
UniProt Secondary B2R6X1 UniProtKB/Swiss-Prot
  B4DXY7 UniProtKB/Swiss-Prot
  B9EKV4 UniProtKB/Swiss-Prot
  Q5VV90 UniProtKB/Swiss-Prot
  Q6LCL1 UniProtKB/Swiss-Prot
  Q9NZT7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 ALDH9A1  aldehyde dehydrogenase 9 family member A1  ALDH9A1  aldehyde dehydrogenase 9 family, member A1  Symbol and/or name change 5135510 APPROVED