Aldehyde dehydrogenase family 1 member A3

NameAldehyde dehydrogenase family 1 member A3
Synonyms
  • 1.2.1.5
  • Aldehyde dehydrogenase 6
  • ALDH6
  • RALDH-3
  • RalDH3
  • Retinaldehyde dehydrogenase 3
Gene NameALDH1A3
OrganismHuman
Amino acid sequence
>lcl|BSEQ0010407|Aldehyde dehydrogenase family 1 member A3
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQI
CEVEEGDKPDVDKAVEAAQVAFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETM
DTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDDNVVCFTRHEPIGVCGAITPW
NFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVE
CAHQGVFFNQGQCCTAASRVFVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQK
QFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSEVTDNMRIAKEEIFGPVQPIL
KFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP
Number of residues512
Molecular Weight56107.995
Theoretical pI7.29
GO Classification
Functions
  • thyroid hormone binding
  • aldehyde dehydrogenase (NAD) activity
  • aldehyde dehydrogenase [NAD(P)+] activity
  • NAD+ binding
  • retinal dehydrogenase activity
  • protein homodimerization activity
Processes
  • olfactory pit development
  • positive regulation of apoptotic process
  • locomotory behavior
  • optic cup morphogenesis involved in camera-type eye development
  • retinal metabolic process
  • righting reflex
  • neuromuscular process controlling balance
  • retinoic acid biosynthetic process
  • retinol metabolic process
  • inner ear morphogenesis
  • retinoic acid metabolic process
  • embryonic eye morphogenesis
  • face development
  • nucleus accumbens development
Components
  • cytoplasm
  • cytosol
  • extracellular exosome
General FunctionThyroid hormone binding
Specific FunctionRecognizes as substrates free retinal and cellular retinol-binding protein-bound retinal. Seems to be the key enzyme in the formation of an RA gradient along the dorso-ventral axis during the early eye development and also in the development of the olfactory system (By similarity).
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID544482
UniProtKB IDP47895
UniProtKB Entry NameAL1A3_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0010408|Aldehyde dehydrogenase family 1 member A3 (ALDH1A3)
ATGGCCACCGCTAACGGGGCCGTGGAAAACGGGCAGCCGGACAGGAAGCCGCCGGCCCTG
CCGCGCCCCATCCGCAACCTGGAGGTCAAGTTCACCAAGATATTTATCAACAATGAATGG
CACGAATCCAAGAGTGGGAAAAAGTTTGCTACATGTAACCCTTCAACTCGGGAGCAAATA
TGTGAAGTGGAAGAAGGAGATAAGCCCGACGTGGACAAGGCTGTGGAGGCTGCACAGGTT
GCCTTCCAGAGGGGCTCGCCATGGCGCCGGCTGGATGCCCTGAGTCGTGGGCGGCTGCTG
CACCAGCTGGCTGACCTGGTGGAGAGGGACCGCGCCACCTTGGCCGCCCTGGAGACGATG
GATACAGGGAAGCCATTTCTTCATGCTTTTTTCATCGACCTGGAGGGCTGTATTAGAACC
CTCAGATACTTTGCAGGGTGGGCAGACAAAATCCAGGGCAAGACCATCCCCACAGATGAC
AACGTCGTGTGCTTCACCAGGCATGAGCCCATTGGTGTCTGTGGGGCCATCACTCCATGG
AACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACC
ATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATC
AAAGAGGCCGGGTTCCCTCCAGGAGTGGTGAACATTGTGCCAGGATTCGGGCCCACAGTG
GGAGCAGCAATTTCTTCTCACCCTCAGATCAACAAGATCGCCTTCACCGGCTCCACAGAG
GTTGGAAAACTGGTTAAAGAAGCTGCGTCCCGGAGCAATCTGAAGCGGGTGACGCTGGAG
CTGGGGGGGAAGAACCCCTGCATCGTGTGTGCGGACGCTGACTTGGACTTGGCAGTGGAG
TGTGCCCATCAGGGAGTGTTCTTCAACCAAGGCCAGTGTTGCACGGCAGCCTCCAGGGTG
TTCGTGGAGGAGCAGGTCTACTCTGAGTTTGTCAGGCGGAGCGTGGAGTATGCCAAGAAA
CGGCCCGTGGGAGACCCCTTCGATGTCAAAACAGAACAGGGGCCTCAGATTGATCAAAAG
CAGTTCGACAAAATCTTAGAGCTGATCGAGAGTGGGAAGAAGGAAGGGGCCAAGCTGGAA
TGCGGGGGCTCAGCCATGGAAGACAAGGGGCTCTTCATCAAACCCACTGTCTTCTCAGAA
GTCACAGACAACATGCGGATTGCCAAAGAGGAGATTTTCGGGCCAGTGCAACCAATACTG
AAGTTCAAAAGTATCGAAGAAGTGATAAAAAGAGCGAATAGCACCGACTATGGACTCACA
GCAGCCGTGTTCACAAAAAATCTCGACAAAGCCCTGAAGTTGGCTTCTGCCTTAGAGTCT
GGAACGGTCTGGATCAACTGCTACAACGCCCTCTATGCACAGGCTCCATTTGGTGGCTTT
AAAATGTCAGGAAATGGCAGAGAACTAGGTGAATACGCTTTGGCCGAATACACAGAAGTG
AAAACTGTCACCATCAAACTTGGCGACAAGAACCCCTGA
GenBank Gene IDU07919
GeneCard IDNot Available
GenAtlas IDALDH1A3
HGNC IDHGNC:409
Chromosome Location15
Locus15q26.3
References
  1. Hsu LC, Chang WC, Hiraoka L, Hsieh CL: Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6. Genomics. 1994 Nov 15;24(2):333-41. 7698756
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  3. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  4. Van Damme P, Lasa M, Polevoda B, Gazquez C, Elosegui-Artola A, Kim DS, De Juan-Pardo E, Demeyer K, Hole K, Larrea E, Timmerman E, Prieto J, Arnesen T, Sherman F, Gevaert K, Aldabe R: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. Proc Natl Acad Sci U S A. 2012 Jul 31;109(31):12449-54. doi: 10.1073/pnas.1210303109. Epub 2012 Jul 18. 22814378
  5. Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM: ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. 23591992
  6. Fares-Taie L, Gerber S, Chassaing N, Clayton-Smith J, Hanein S, Silva E, Serey M, Serre V, Gerard X, Baumann C, Plessis G, Demeer B, Bretillon L, Bole C, Nitschke P, Munnich A, Lyonnet S, Calvas P, Kaplan J, Ragge N, Rozet JM: ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70. doi: 10.1016/j.ajhg.2012.12.003. Epub 2013 Jan 9. 23312594
  7. Aldahmesh MA, Khan AO, Hijazi H, Alkuraya FS: Mutations in ALDH1A3 cause microphthalmia. Clin Genet. 2013 Aug;84(2):128-31. doi: 10.1111/cge.12184. Epub 2013 May 27. 23646827
  8. Semerci CN, Kalay E, Yildirim C, Dincer T, Olmez A, Toraman B, Kocyigit A, Bulgu Y, Okur V, Satiroglu-Tufan L, Akarsu NA: Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia. Br J Ophthalmol. 2014 Jun;98(6):832-40. doi: 10.1136/bjophthalmol-2013-304058. Epub 2014 Feb 25. 24568872
  9. Roos L, Fang M, Dali C, Jensen H, Christoffersen N, Wu B, Zhang J, Xu R, Harris P, Xu X, Gronskov K, Tumer Z: A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia. Clin Genet. 2014 Sep;86(3):276-81. doi: 10.1111/cge.12277. Epub 2013 Oct 25. 24024553
  10. Mory A, Ruiz FX, Dagan E, Yakovtseva EA, Kurolap A, Pares X, Farres J, Gershoni-Baruch R: A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred. Eur J Hum Genet. 2014 Mar;22(3):419-22. doi: 10.1038/ejhg.2013.157. Epub 2013 Jul 24. 23881059
  11. Abouzeid H, Favez T, Schmid A, Agosti C, Youssef M, Marzouk I, El Shakankiry N, Bayoumi N, Munier FL, Schorderet DF: Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families. Hum Mutat. 2014 Aug;35(8):949-53. doi: 10.1002/humu.22580. Epub 2014 Jun 3. 24777706