ALDH1A1 (aldehyde dehydrogenase 1 family member A1)

Gene

• Entrez ID: 216
• Gene name: Aldehyde dehydrogenase 1 family member A1
• Gene symbol: ALDH1A1
• Synonyms: ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1, RALDH1
• Chromosome: 9
• Chromosome location: 9q21.13
• Summary: The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liv

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053112	hsa-miR-140-5p	Luciferase reporter assay, Western blot	23752191
MIRT053112	hsa-miR-140-5p	Luciferase reporter assay, Western blot	23752191
MIRT776938	hsa-miR-1184	CLIP-seq
MIRT776939	hsa-miR-1205	CLIP-seq
MIRT776940	hsa-miR-1283	CLIP-seq
MIRT776941	hsa-miR-3158-5p	CLIP-seq
MIRT776942	hsa-miR-3664-5p	CLIP-seq
MIRT776943	hsa-miR-4699-3p	CLIP-seq
MIRT776944	hsa-miR-4714-5p	CLIP-seq
MIRT776945	hsa-miR-520d-5p	CLIP-seq
MIRT776946	hsa-miR-524-5p	CLIP-seq
MIRT1555915	hsa-miR-562	CLIP-seq
MIRT2170094	hsa-miR-4328	CLIP-seq
MIRT2426186	hsa-miR-1275	CLIP-seq
MIRT2426187	hsa-miR-1305	CLIP-seq
MIRT2426188	hsa-miR-132	CLIP-seq
MIRT2426189	hsa-miR-1323	CLIP-seq
MIRT2426190	hsa-miR-200b	CLIP-seq
MIRT2426191	hsa-miR-200c	CLIP-seq
MIRT2426192	hsa-miR-21	CLIP-seq
MIRT2426193	hsa-miR-212	CLIP-seq
MIRT2426194	hsa-miR-221	CLIP-seq
MIRT2426195	hsa-miR-222	CLIP-seq
MIRT2426196	hsa-miR-23a	CLIP-seq
MIRT2426197	hsa-miR-23b	CLIP-seq
MIRT2426198	hsa-miR-23c	CLIP-seq
MIRT2426199	hsa-miR-297	CLIP-seq
MIRT2426200	hsa-miR-3115	CLIP-seq
MIRT2426201	hsa-miR-3117-3p	CLIP-seq
MIRT2426202	hsa-miR-3132	CLIP-seq
MIRT2426203	hsa-miR-3153	CLIP-seq
MIRT2426204	hsa-miR-3163	CLIP-seq
MIRT2426205	hsa-miR-3169	CLIP-seq
MIRT2426206	hsa-miR-3173-3p	CLIP-seq
MIRT2426207	hsa-miR-3185	CLIP-seq
MIRT2426208	hsa-miR-335	CLIP-seq
MIRT2426209	hsa-miR-374c	CLIP-seq
MIRT2426210	hsa-miR-3913-3p	CLIP-seq
MIRT2426211	hsa-miR-3942-3p	CLIP-seq
MIRT2426212	hsa-miR-4282	CLIP-seq
MIRT2426213	hsa-miR-429	CLIP-seq
MIRT2426214	hsa-miR-4307	CLIP-seq
MIRT2426215	hsa-miR-4326	CLIP-seq
MIRT2170094	hsa-miR-4328	CLIP-seq
MIRT2426216	hsa-miR-4428	CLIP-seq
MIRT2426217	hsa-miR-4475	CLIP-seq
MIRT2426218	hsa-miR-4477a	CLIP-seq
MIRT2426219	hsa-miR-4496	CLIP-seq
MIRT2426220	hsa-miR-4517	CLIP-seq
MIRT2426221	hsa-miR-455-3p	CLIP-seq
MIRT2426222	hsa-miR-4665-5p	CLIP-seq
MIRT2426223	hsa-miR-4666-5p	CLIP-seq
MIRT2426224	hsa-miR-4668-3p	CLIP-seq
MIRT2426225	hsa-miR-4708-5p	CLIP-seq
MIRT2426226	hsa-miR-4709-3p	CLIP-seq
MIRT2426227	hsa-miR-4759	CLIP-seq
MIRT2426228	hsa-miR-4795-3p	CLIP-seq
MIRT2426229	hsa-miR-485-3p	CLIP-seq
MIRT2426230	hsa-miR-487a	CLIP-seq
MIRT2426231	hsa-miR-489	CLIP-seq
MIRT2426232	hsa-miR-5095	CLIP-seq
MIRT2426233	hsa-miR-511	CLIP-seq
MIRT2426234	hsa-miR-514	CLIP-seq
MIRT2426235	hsa-miR-514b-3p	CLIP-seq
MIRT2426236	hsa-miR-548c-3p	CLIP-seq
MIRT2426237	hsa-miR-548o	CLIP-seq
MIRT2426238	hsa-miR-567	CLIP-seq
MIRT2426239	hsa-miR-590-5p	CLIP-seq
MIRT2426240	hsa-miR-607	CLIP-seq
MIRT2426241	hsa-miR-651	CLIP-seq
MIRT2426242	hsa-miR-655	CLIP-seq
MIRT2426243	hsa-miR-891b	CLIP-seq
MIRT2426244	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EZH2	Repression	22144423
TLX1	Unknown	18073142;18082256

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	ISS
GO:0001758	Function	Retinal dehydrogenase activity	ISS
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA	21873635
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	4015840, 25450233
GO:0005096	Function	GTPase activator activity	TAS	1709013
GO:0005497	Function	Androgen binding	TAS	1709013
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	TAS	2987944
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006069	Process	Ethanol oxidation	TAS
GO:0006081	Process	Cellular aldehyde metabolic process	TAS	1709013
GO:0018479	Function	Benzaldehyde dehydrogenase (NAD+) activity	IBA	21873635
GO:0042572	Process	Retinol metabolic process	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0051287	Function	NAD binding	ISS	12693930
GO:0061624	Process	Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	22561685

Other IDs

• MIM: 100640
• HGNC: 402
• e!Ensembl: ENSG00000165092

Protein

• UniProt ID: P00352
• Protein name: Aldehyde dehydrogenase 1A1 (EC 1.2.1.19) (EC 1.2.1.28) (EC 1.2.1.3) (EC 1.2.1.36) (3-deoxyglucosone dehydrogenase) (ALDH-E1) (ALHDII) (Aldehyde dehydrogenase family 1 member A1) (Aldehyde dehydrogenase, cytosolic) (Retinal dehydrogenase 1) (RALDH 1) (RalD
• Protein function: Cytosolic dehydrogenase that catalyzes the irreversible oxidation of a wide range of aldehydes to their corresponding carboxylic acid (PubMed:12941160, PubMed:15623782, PubMed:17175089, PubMed:19296407, PubMed:25450233, PubMed:26373694). Functio
• PDB: 4WB9, 4WJ9, 4WP7, 4WPN, 4X4L, 5AC2, 5L2M, 5L2N, 5L2O, 5TEI, 6DUM, 7JWS, 7JWT, 7JWU, 7JWV, 7JWW, 7UM9, 8D46, 8DNO, 8ENE, 8PVH, 8T0N, 8T0T, 8WFQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	29 → 492	Aldehyde dehydrogenase family	Family

• Sequence:

  MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPATEEELCQVEEGDKEDV
  DKAVKAARQAFQIGSPWRTMDASERGRLLYKLADLIERDRLLLATMESMNGGKLYSNAYL
  NDLAGCIKTLRYCAGWADKIQGRTIPIDGNFFTYTRHEPIGVCGQIIPWNFPLVMLIWKI
  GPALSCGNTVVVKPAEQTPLTALHVASLIKEAGFPPGVVNIVPGYGPTAGAAISSHMDID
  KVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPCIVLADADLDNAVEFAHHGVFYHQG
  QCCIAASRIFVEESIYDEFVRRSVERAKKYILGNPLTPGVTQGPQIDKEQYDKILDLIES
  GKKEGAKLECGGGPWGNKGYFVQPTVFSNVTDEMRIAKEEIFGPVQQIMKFKSLDDVIKR
  ANNTFYGLSAGVFTKDIDKAITISSALQAGTVWVNCYGVVSAQCPFGGFKMSGNGRELGE
  YGFHEYTEVKTVTVKISQKNS

• Sequence length: 501

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

RA biosynthesis pathway
Fructose catabolism
Ethanol oxidation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Creutzfeldt-jakob disease	New Variant Creutzfeldt-Jakob Disease, Creutzfeldt-Jakob Disease, Familial	rs193922906, rs74315401, rs28933385, rs74315412, rs398122370	23349890
Melanoma	melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050	31580832
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	15108329
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	25045800
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	15108329
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	14678778

Unknown
Disease name	Disease term	dbSNP ID	References
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	15108329
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		29718361
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		25045800
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		25045800