ALDH1A3 (aldehyde dehydrogenase 1 family member A3)

Gene

• Entrez ID: 220
• Gene name: Aldehyde dehydrogenase 1 family member A3
• Gene symbol: ALDH1A3
• Synonyms: ALDH1A6, ALDH6, MCOP8, RALDH3
• 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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
AR	Unknown	17526768

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001758	Function	Retinal dehydrogenase activity	IDA	27759097
GO:0002072	Process	Optic cup morphogenesis involved in camera-type eye development	IEA
GO:0002138	Process	Retinoic acid biosynthetic process	IDA	27759097
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IBA	21873635
GO:0004030	Function	Aldehyde dehydrogenase [NAD(P)+] activity	IDA	11585737
GO:0005737	Component	Cytoplasm	IDA	11585737
GO:0005829	Component	Cytosol	TAS
GO:0007626	Process	Locomotory behavior	IEA
GO:0021768	Process	Nucleus accumbens 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: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: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

Other IDs

• MIM: 600463
• HGNC: 409
• e!Ensembl: ENSG00000184254

Protein

• UniProt ID: 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

• Sequence:

  MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQI
  CEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETM
  DTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPW
  NFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
  GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
  CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQK
  QFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
  KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
  KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP

• Sequence length: 512

Pathways

KEGG:

Retinol metabolism
Metabolic pathways

Reactome:

RA biosynthesis pathway

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208	16367923
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
Microphthalmia	MICROPHTHALMIA, ISOLATED 1, MICROPHTHALMIA, ISOLATED 8	rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658, rs730882141, rs150232843, rs730882143, rs730882158, rs730882159, rs730882160, rs730882161, rs730882162, rs786205471, rs786205472, rs797045054, rs869025268, rs755799430, rs1555037395, rs770341402, rs1245503127, rs749156010, rs376898612, rs750894392, rs1359404443, rs1422497202, rs374823079, rs1565295426, rs145719998, rs1166512859, rs752288097, rs1226217440, rs1243587288	23312594, 24024553, 24568872, 24859618, 24859610, 23881059, 11826019, 24777706, 23646827, 23591992, 23312594
Microphthalmos	Microphthalmos, Microphthalmos, Autosomal Recessive	rs794726862, rs1329285216	23312594

Unknown
Disease name	Disease term	dbSNP ID	References
Hypoplasia of the optic nerve	Hypoplasia of the optic nerve
Isolated microphthalmia-anophthalmia-coloboma	Isolated microphthalmia-anophthalmia-coloboma
Stomach neoplasms	Malignant neoplasm of stomach, Stomach Neoplasms		16367923