Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	220
Gene name	Aldehyde dehydrogenase 1 family member A3
Gene symbol	ALDH1A3
Synonyms (NCBI Gene)	ALDH1A6ALDH6MCOP8RALDH3
Chromosome	15
Chromosome location	15q26.3
Summary	This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs386834230	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514652	C>T	Pathogenic	Coding sequence variant, missense variant
rs1191459372	G>A,C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained

109

Show/Hide all (109)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021438	hsa-miR-9-5p	Microarray	17612493
MIRT025948	hsa-miR-7-5p	Microarray	17612493
MIRT718400	hsa-miR-4476	HITS-CLIP	19536157
MIRT718399	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT718398	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT718397	hsa-miR-4533	HITS-CLIP	19536157
MIRT718396	hsa-miR-3915	HITS-CLIP	19536157
MIRT718395	hsa-miR-1224-5p	HITS-CLIP	19536157
MIRT718394	hsa-miR-4689	HITS-CLIP	19536157
MIRT718393	hsa-miR-6858-5p	HITS-CLIP	19536157
MIRT718392	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT694418	hsa-miR-8485	HITS-CLIP	23313552
MIRT694417	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT694416	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT694415	hsa-miR-603	HITS-CLIP	23313552
MIRT694414	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT694413	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT694412	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT694411	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT694410	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT694409	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT694408	hsa-miR-3941	HITS-CLIP	23313552
MIRT694407	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT694406	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT694405	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT694404	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT694403	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT694402	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT694401	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT694400	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT694399	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT718400	hsa-miR-4476	HITS-CLIP	19536157
MIRT718399	hsa-miR-6876-5p	HITS-CLIP	19536157
MIRT718398	hsa-miR-3928-3p	HITS-CLIP	19536157
MIRT718397	hsa-miR-4533	HITS-CLIP	19536157
MIRT718396	hsa-miR-3915	HITS-CLIP	19536157
MIRT718395	hsa-miR-1224-5p	HITS-CLIP	19536157
MIRT718394	hsa-miR-4689	HITS-CLIP	19536157
MIRT718393	hsa-miR-6858-5p	HITS-CLIP	19536157
MIRT718392	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT694418	hsa-miR-8485	HITS-CLIP	23313552
MIRT694417	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT694416	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT694415	hsa-miR-603	HITS-CLIP	23313552
MIRT694414	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT694413	hsa-miR-4802-3p	HITS-CLIP	23313552
MIRT694412	hsa-miR-942-3p	HITS-CLIP	23313552
MIRT694411	hsa-miR-182-3p	HITS-CLIP	23313552
MIRT694410	hsa-miR-597-3p	HITS-CLIP	23313552
MIRT694409	hsa-miR-152-5p	HITS-CLIP	23313552
MIRT694408	hsa-miR-3941	HITS-CLIP	23313552
MIRT694407	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT694406	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT694405	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT694404	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT694403	hsa-miR-4789-5p	HITS-CLIP	23313552
MIRT694402	hsa-let-7f-2-3p	HITS-CLIP	23313552
MIRT694401	hsa-miR-1185-1-3p	HITS-CLIP	23313552
MIRT694400	hsa-miR-1185-2-3p	HITS-CLIP	23313552
MIRT694399	hsa-miR-4652-3p	HITS-CLIP	23313552
MIRT755921	hsa-miR-4524b-5p	Luciferase reporter assay	37551838
MIRT776983	hsa-miR-105	CLIP-seq
MIRT776984	hsa-miR-1208	CLIP-seq
MIRT776985	hsa-miR-1229	CLIP-seq
MIRT776986	hsa-miR-1323	CLIP-seq
MIRT776987	hsa-miR-3150b-3p	CLIP-seq
MIRT776988	hsa-miR-3689d	CLIP-seq
MIRT776989	hsa-miR-4784	CLIP-seq
MIRT776990	hsa-miR-548o	CLIP-seq
MIRT1929434	hsa-miR-3120-3p	CLIP-seq
MIRT1929435	hsa-miR-3125	CLIP-seq
MIRT1929436	hsa-miR-3177-5p	CLIP-seq
MIRT1929437	hsa-miR-3916	CLIP-seq
MIRT1929438	hsa-miR-4693-3p	CLIP-seq
MIRT1929439	hsa-miR-4768-3p	CLIP-seq
MIRT1929440	hsa-miR-548q	CLIP-seq
MIRT2170095	hsa-miR-1243	CLIP-seq
MIRT2170096	hsa-miR-127-5p	CLIP-seq
MIRT2170097	hsa-miR-1289	CLIP-seq
MIRT2170098	hsa-miR-15a	CLIP-seq
MIRT2170099	hsa-miR-15b	CLIP-seq
MIRT2170100	hsa-miR-16	CLIP-seq
MIRT2170101	hsa-miR-195	CLIP-seq
MIRT2170102	hsa-miR-3065-5p	CLIP-seq
MIRT2170103	hsa-miR-3150a-5p	CLIP-seq
MIRT2170104	hsa-miR-3150b-5p	CLIP-seq
MIRT2170105	hsa-miR-3198	CLIP-seq
MIRT2170106	hsa-miR-338-5p	CLIP-seq
MIRT2170107	hsa-miR-3654	CLIP-seq
MIRT2170108	hsa-miR-424	CLIP-seq
MIRT2170109	hsa-miR-4294	CLIP-seq
MIRT2170110	hsa-miR-4309	CLIP-seq
MIRT2170111	hsa-miR-4524	CLIP-seq
MIRT2170112	hsa-miR-497	CLIP-seq
MIRT2170113	hsa-miR-503	CLIP-seq
MIRT2170114	hsa-miR-545	CLIP-seq
MIRT2170115	hsa-miR-548ag	CLIP-seq
MIRT2170116	hsa-miR-548ai	CLIP-seq
MIRT2170117	hsa-miR-548m	CLIP-seq
MIRT2170118	hsa-miR-646	CLIP-seq
MIRT2443548	hsa-miR-3671	CLIP-seq
MIRT2443549	hsa-miR-371-5p	CLIP-seq
MIRT2443550	hsa-miR-371b-5p	CLIP-seq
MIRT2443551	hsa-miR-513c	CLIP-seq
MIRT2443552	hsa-miR-514b-5p	CLIP-seq
MIRT2443553	hsa-miR-590-3p	CLIP-seq
MIRT2472905	hsa-miR-3152-3p	CLIP-seq
MIRT2472906	hsa-miR-548c-3p	CLIP-seq
MIRT2472907	hsa-miR-556-3p	CLIP-seq

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Transcription factor	Regulation	Reference
AR	Unknown	17526768

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IDA	27759097
GO:0001758	Function	Retinal dehydrogenase (NAD+) activity	IEA
GO:0002072	Process	Optic cup morphogenesis involved in camera-type eye development	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IDA	27759097
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	IDA	11585737
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	IEA
GO:0005737	Component	Cytoplasm	IDA	11585737
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006081	Process	Aldehyde metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0021768	Process	Nucleus accumbens development	IEA
GO:0031076	Process	Embryonic camera-type eye development	IEA
GO:0031076	Process	Embryonic camera-type eye development	ISS
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042573	Process	Retinoic acid metabolic process	IDA	11585737
GO:0042573	Process	Retinoic acid metabolic process	IEA
GO:0042574	Process	Retinal metabolic process	IDA	11585737
GO:0042803	Function	Protein homodimerization activity	IDA	11585737
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043584	Process	Nose development	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	ISS
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051289	Process	Protein homotetramerization	IDA	27759097
GO:0060013	Process	Righting reflex	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060324	Process	Face development	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070324	Function	Thyroid hormone binding	IEA
GO:0070384	Process	Harderian gland development	IEA
GO:0070403	Function	NAD+ binding	IEA

MIM	HGNC	e!Ensembl
600463	409	ENSG00000184254

P47895

Protein name

Retinaldehyde dehydrogenase 3 (RALDH-3) (RalDH3) (EC 1.2.1.36) (Aldehyde dehydrogenase 6) (Aldehyde dehydrogenase family 1 member A3) (ALDH1A3)

Protein function

Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively (By simil

PDB

5FHZ , 6S6W , 6TE5 , 6TGW , 6TRY , 7A6Q , 7QK7 , 7QK8 , 7QK9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00171	Aldedh	40 → 503	Aldehyde dehydrogenase family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at low levels in many tissues and at higher levels in salivary gland, stomach, and kidney. {ECO:0000269|PubMed:7698756}.

Sequence

MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQI
CEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETM
DTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPW
NFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQK
QFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP

Sequence length

512

Interactions

View interactions

	KEGG		Reactome
	Retinol metabolism Metabolic pathways		RA biosynthesis pathway

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Likely pathogenic	rs797046134	RCV000194309
Isolated anophthalmia-microphthalmia syndrome	Likely pathogenic; Pathogenic	rs1567174297, rs1470193684, rs1164081840	RCV000710043 RCV001256182 RCV001256183
Isolated microphthalmia 8	Likely pathogenic; Pathogenic	rs547918064, rs2141554930, rs1199864354, rs754619607, rs2505576497, rs2505549879, rs1422193527, rs2505570932, rs2505570620, rs397514652, rs397514653, rs78931658	RCV002547642 RCV001874973 RCV003229638 RCV003229639 RCV003229641 RCV003229642 RCV003229645 RCV003229646 RCV003229647 RCV003988731 RCV000033221 RCV000033222 RCV000033223
Microphthalmia	Likely pathogenic	rs547918064	RCV004798940

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ALDH1A3-related disorder	Benign; Likely benign	rs1130737, rs780340181, rs560418569, rs749166810, rs200617229, rs61757679, rs3803431, rs112582857, rs2229182, rs367983812, rs368918536	RCV003919910 RCV003916901 RCV003899484 RCV003931522 RCV003924553 RCV003915610 RCV003975493 RCV003955764 RCV003943037 RCV003933320 RCV003913145
Clear cell carcinoma of kidney	Likely benign	rs113661159	RCV005907432
Gastric cancer	Benign	rs4646655	RCV005922390
Lung cancer	Benign	rs4646655	RCV005922393
Malignant tumor of esophagus	Benign	rs4646655	RCV005922389
Ovarian serous cystadenocarcinoma	Benign	rs4646655	RCV005922391
Thymoma	Benign	rs4646655	RCV005922392
Uterine corpus endometrial carcinoma	Benign	rs4646655	RCV005922394

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	24167362
Adenocarcinoma of Lung	Associate	27484806
Aniridia	Associate	34827649
Anophthalmia with pulmonary hypoplasia	Associate	36997679
Anophthalmos	Associate	23312594, 23881059, 30200890, 36997679
Asthma	Associate	34456632
Autistic Disorder	Associate	36997679
Bile acid synthesis defect congenital 2	Associate	23312594
Brain Neoplasms	Associate	30958802
Breast Neoplasms	Associate	29192143, 37511575, 37753740
Breast Neoplasms	Stimulate	31545416
Calcinosis Cutis	Associate	37753740
Carcinoma Pancreatic Ductal	Associate	37267864
Carcinoma Renal Cell	Associate	35096270
Carcinoma Squamous Cell	Associate	18854940
Cardiomyopathies	Associate	33991687
Colorectal Neoplasms	Associate	26291085, 29235568, 33472949, 36148682
Edema	Associate	32680476
Eye Abnormalities	Associate	36997679
Fatty Liver	Associate	30379862
Fatty Liver Alcoholic	Associate	30379862
Friedreich Ataxia	Associate	33991687
Gallbladder Neoplasms	Associate	24167362
Glioblastoma	Associate	25684492, 26506879, 34827559, 37947601, 39513909
Glioblastoma	Stimulate	32680476
Glioma	Associate	26575197, 27759097, 28423611, 34934174, 36996494
Heart Diseases	Associate	33991687
Hemoglobin SC Disease	Associate	24167362
Hypertension	Associate	40449756
Inflammation	Associate	28257834
Inflammatory Bowel Diseases	Associate	35275975
Lung Neoplasms	Associate	24047698
Lymphatic Metastasis	Stimulate	24167362
Meckel syndrome type 1	Associate	34934174
Melanoma	Associate	31580832
Mesothelioma	Associate	37047661
Mesothelioma Malignant	Associate	24884875, 34769499, 37047661
Microphthalmos	Associate	23312594, 23881059, 30200890, 36997679
Neoplasm Invasiveness	Associate	26575197
Neoplasm Metastasis	Associate	37753740
Neoplasms	Associate	19893615, 22112299, 26291085, 26575197, 27759097, 28423611, 30622340, 32680476, 34827559, 36996494, 37047661, 37267864, 37791907
Neoplasms	Stimulate	40595790
Neoplasms Cystic Mucinous and Serous	Associate	23312594
Neoplasms Cystic Mucinous and Serous	Stimulate	33341649
Ovarian Neoplasms	Associate	22852552, 33341649
Pancreatic Neoplasms	Stimulate	24053169
Papillary Thyroid Microcarcinoma	Associate	31498560
Personality Disorders	Associate	39513909
Polycystic Ovary Syndrome	Associate	12734205
Prostatic Neoplasms	Associate	25969992, 28443495, 30397274, 32375698, 33068330
Prostatic Neoplasms Castration Resistant	Associate	32375698
Seizures	Associate	36997679
Stomach Neoplasms	Associate	16367923, 27015121
Thakker Donnai syndrome	Associate	36997679
Triple Negative Breast Neoplasms	Associate	37753740

ALDH1A3 (aldehyde dehydrogenase 1 family member A3)