Any feedback?
Please rate this page
(sequences.php)
(0/150)

BRENDA support

Sequence of AL1A3_HUMAN

EC Number:1.2.1.36

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
retinal dehydrogenase
P47895
Homo sapiens
512
56108
Reaction
retinal + NAD+ + H2O = retinoate + NADH + H+
Other sequences found for EC No. 1.2.1.36

EC Number:1.2.1.5

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
aldehyde dehydrogenase [NAD(P)+]
P47895
Homo sapiens
512
56108
Reaction
an aldehyde + NAD(P)+ + H2O = a carboxylate + NAD(P)H + H+
Other sequences found for EC No. 1.2.1.5

General information:

Sequence
show sequence in fasta format
  0 MATANGAVEN GQPDRKPPAL PRPIRNLEVK FTKIFINNEW HESKSGKKFA TCNPSTREQI
 60 CEVEEGDKPD VDKAVEAAQV AFQRGSPWRR LDALSRGRLL HQLADLVERD RATLAALETM
120 DTGKPFLHAF FIDLEGCIRT LRYFAGWADK IQGKTIPTDD NVVCFTRHEP IGVCGAITPW
180 NFPLLMLVWK LAPALCCGNT MVLKPAEQTP LTALYLGSLI KEAGFPPGVV NIVPGFGPTV
240 GAAISSHPQI NKIAFTGSTE VGKLVKEAAS RSNLKRVTLE LGGKNPCIVC ADADLDLAVE
300 CAHQGVFFNQ GQCCTAASRV FVEEQVYSEF VRRSVEYAKK RPVGDPFDVK TEQGPQIDQK
360 QFDKILELIE SGKKEGAKLE CGGSAMEDKG LFIKPTVFSE VTDNMRIAKE EIFGPVQPIL
420 KFKSIEEVIK RANSTDYGLT AAVFTKNLDK ALKLASALES GTVWINCYNA LYAQAPFGGF
480 KMSGNGRELG EYALAEYTEV KTVTIKLGDK NP
Download this sequence
in fasta format
Download all sequences for 1.2.1.5
in fasta format
in csv (Excel, OpenOffice) format
Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
761097
Hsu L.C.,Chang W.-C.,Hiraoka L.,Hsieh C.-L.
Molecular cloning, genomic organization, and chromosomal localization of an additional human aldehyde dehydrogenase gene, ALDH6.
Genomics
24
333-341
1994
761098
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
761100
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
761101
Van Damme P.,Lasa M.,Polevoda B.,Gazquez C.,Elosegui-Artola A.,Kim D.S.,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.
109
12449-12454
2012
761102
Yahyavi M.,Abouzeid H.,Gawdat G.,de Preux A.S.,Xiao T.,Bardakjian T.,Schneider A.,Choi A.,Jorgenson E.,Baier H.,El Sada M.,Schorderet D.F.,Slavotinek A.M.
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Hum. Mol. Genet.
22
3250-3258
2013
761103
Moretti A.,Li J.,Donini S.,Sobol R.W.,Rizzi M.,Garavaglia S.
Crystal structure of human aldehyde dehydrogenase 1A3 complexed with NAD(+) and retinoic acid.
Sci. Rep.
6
35710-35710
2016
761104
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 J.M.
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
Am. J. Hum. Genet.
92
265-270
2013
761105
Aldahmesh M.A.,Khan A.O.,Hijazi H.,Alkuraya F.S.
Mutations in ALDH1A3 cause Microphthalmia.
Clin. Genet.
84
128-131
2013
761106
Semerci C.N.,Kalay E.,Yildirim C.,Dincer T.,Olmez A.,Toraman B.,Kocyigit A.,Bulgu Y.,Okur V.,Satiroglu-Tufan L.,Akarsu N.A.
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
Br. J. Ophthalmol.
98
832-840
2014
761107
Roos L.,Fang M.,Dali C.,Jensen H.,Christoffersen N.,Wu B.,Zhang J.,Xu R.,Harris P.,Xu X.,Groenskov K.,Tuemer Z.
A homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Clin. Genet.
86
276-281
2014
761108
Mory A.,Ruiz F.X.,Dagan E.,Yakovtseva E.A.,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.
22
419-422
2014
761109
Abouzeid H.,Favez T.,Schmid A.,Agosti C.,Youssef M.,Marzouk I.,El Shakankiry N.,Bayoumi N.,Munier F.L.,Schorderet D.F.
Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.
Hum. Mutat.
35
949-953
2014