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Blast Method:

 
 


Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA.


RefSeq Accession Definition Services Price Order
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. ORF Sequence $437.61
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_001202404.1, 320202963
Length 4761 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA.
Product alpha-aminoadipic semialdehyde dehydrogenase isoform 3
Comment

Summary: The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011].


Transcript Variant: This variant (2) is missing two in-frame coding exons compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.


Sequence Note: This Refseq, containing three potential in-frame translation initiation codons (all with weak Kozak signals), is annotated with a CDS starting from the upstream start codon (at nt 112-114). While this variant has transcript support, the localization and/or function of this isoform is not known. Translation from the downstream AUGs (at nt 193-195 and 277-279) may occur by leaky scanning. This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The extent of this transcript is supported by transcript alignments.

RefSeq NP_001189333.1
CDS 112..1620
Misc Feature(1)349..1581
Misc Feature(2)349..1581
Misc Feature(3)355..1581
Misc Feature(4)order(490..492,508..510,517..519,535..537,556..558,
Misc Feature(5)order(766..777,844..846,850..855,964..969,1006..1017,
Misc Feature(6)order(775..777,1078..1080,1171..1173,1180..1182)
Misc Feature(7)193..195
Misc Feature(8)277..279
Exon (1)1..384
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (2)385..438
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (3)439..504
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (4)505..585
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (5)586..709
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (6)710..842
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (7)843..887
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (8)888..965
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (9)966..1063
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (10)1064..1105
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (11)1106..1200
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (12)1201..1317
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (13)1318..1415
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (14)1416..1489
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (15)1490..1565
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Exon (16)1566..4744
Gene:ALDH7A1
Gene Synonym:ATQ1; EPD; PDE
Translation MGSPGRGAGLYFSSSQGLGLIPSPGLSMWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLL INQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVK KAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDI CDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGN VCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFT GSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTA RRLVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSS SIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYM RRSTCTINYSKDLPLAQGIKFQ
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Position Chain Variation Link
complement(42)-dbSNP:
complement(42)-t, cdbSNP:900640
complement(61)-c, adbSNP:900641
complement(76)-c, adbSNP:146562077
complement(133)-t, cdbSNP:144272515
complement(159)-g, cdbSNP:140627539
complement(231)-t, cdbSNP:201566142
complement(235)-t, adbSNP:1049211
complement(252)-t, adbSNP:1049214
complement(258)-g, cdbSNP:1049217
complement(270)-t, cdbSNP:11542969
complement(331)-g, adbSNP:144684547
complement(395)-dbSNP:
complement(395)-t, gdbSNP:58528748
complement(435)-t, cdbSNP:146438406
complement(465)-dbSNP:
complement(465)-g, adbSNP:60720055
complement(520)-dbSNP:
complement(520)-t, cdbSNP:121912708
complement(546)-g, adbSNP:149228266
complement(554)-g, adbSNP:145329188
complement(565)-t, cdbSNP:117295656
complement(615)-dbSNP:
complement(615)-g, cdbSNP:199653162
complement(711)-dbSNP:
complement(711)-t, adbSNP:200447936
complement(721)-g, cdbSNP:140102105
complement(745)-t, cdbSNP:61757685
complement(788)-t, cdbSNP:121912709
complement(815)-g, adbSNP:200433565
complement(848)-dbSNP:
complement(848)-g, cdbSNP:202084501
complement(857)-g, adbSNP:140827978
complement(867)-g, adbSNP:57902950
complement(874)-t, cdbSNP:201832111
complement(922)-dbSNP:
complement(922)-t, gdbSNP:140701322
complement(1026)-dbSNP:
complement(1026)-t, cdbSNP:201948406
complement(1050)-t, cdbSNP:150623275
complement(1094)-dbSNP:
complement(1094)-t, adbSNP:121912711
complement(1106)-dbSNP:
complement(1106)-g, cdbSNP:141775154
complement(1122)-g, adbSNP:202069068
complement(1142)-g, adbSNP:148052962
complement(1152)-g, adbSNP:114516357
complement(1154)-t, cdbSNP:3189320
complement(1190)-g, adbSNP:144625212
complement(1192)-t, cdbSNP:111319259
complement(1210)-dbSNP:
complement(1210)-g, adbSNP:181287032
complement(1224)-t, gdbSNP:121912710
complement(1234)-t, cdbSNP:2306618
complement(1237)-t, cdbSNP:201792544
complement(1276)-t, cdbSNP:150305320
complement(1279)-g, cdbSNP:121912707
complement(1292)-g, adbSNP:151107837
complement(1305)-g, cdbSNP:142975776
complement(1315)-t, gdbSNP:12514417
complement(1349)-dbSNP:
complement(1349)-t, cdbSNP:200299784
complement(1350)-t, cdbSNP:200980969
complement(1375)-t, adbSNP:186558364
complement(1396)-t, cdbSNP:113609617
complement(1406)-t, cdbSNP:147940248
complement(1442)-dbSNP:
complement(1442)-g, adbSNP:144701796
complement(1486)-g, adbSNP:202104680
complement(1520)-t, cdbSNP:80049945
complement(1547)-t, cdbSNP:200102503
complement(1567)-dbSNP:
complement(1567)-t, cdbSNP:61757684
complement(1688)-g, adbSNP:2775
complement(1769)-t, cdbSNP:187827993
complement(1832)-t, gdbSNP:143317618
complement(1945)-t, cdbSNP:55923017
complement(2023)-g, adbSNP:112493228
complement(2075)-t, cdbSNP:182676227
complement(2080)-t, cdbSNP:191020661
complement(2168)-t, cdbSNP:1060856
complement(2296)-g, adbSNP:7447380
complement(2310)-g, adbSNP:139905907
complement(2346)-t, cdbSNP:1060857
complement(2351)-g, adbSNP:1138001
complement(2427)-g, cdbSNP:1807
complement(2438)-g, adbSNP:1138005
complement(2600)-t, gdbSNP:74892068
complement(2619..2620)-, tdbSNP:60217601
complement(2678)-g, adbSNP:111675585
complement(2728)-t, cdbSNP:1483780
complement(2732)-c, adbSNP:80345302
complement(2772)-g, cdbSNP:146010837
complement(2776)-t, gdbSNP:181404590
complement(2823)-g, adbSNP:144106312
complement(2908)-t, cdbSNP:190996922
complement(2961)-t, cdbSNP:139186397
complement(2988)-t, adbSNP:115645125
complement(3066)-t, cdbSNP:114580465
complement(3292)-t, cdbSNP:78029541
complement(3315)-t, adbSNP:62947162
complement(3322)-c, adbSNP:200532010
complement(3322)-, adbSNP:5871218
complement(3350)-g, adbSNP:185960737
complement(3361)-t, adbSNP:744720
complement(3368)-t, adbSNP:744721
complement(3369)-t, gdbSNP:744722
complement(3369)-, cdbSNP:199550747
complement(3424)-t, cdbSNP:744723
complement(3504)-g, cdbSNP:189465791
complement(3746)-t, cdbSNP:115168957
complement(3874)-t, adbSNP:76249070
complement(3887)-g, cdbSNP:184630563
complement(3927..3928)-, adbSNP:113950002
complement(4007)-t, cdbSNP:116566135
complement(4043)-g, adbSNP:114575585
complement(4084..4085)-, adbSNP:200155555
complement(4119)-t, cdbSNP:7715516
complement(4132)-t, cdbSNP:76363408
complement(4195)-g, adbSNP:114287342
complement(4223)-t, cdbSNP:74415886
complement(4287)-, gdbSNP:201421709
complement(4384)-t, cdbSNP:181028716
complement(4403)-t, cdbSNP:148309568
complement(4408)-g, cdbSNP:189486979
complement(4436)-g, adbSNP:77525381
complement(4437..4438)-, adbSNP:11395324
complement(4438)-, adbSNP:59667289
complement(4462)-t, cdbSNP:145424881
complement(4517)-g, cdbSNP:184098590
complement(4534)-t, adbSNP:192950824
complement(4616..4617)-, adbSNP:5871217
complement(4624)-t, cdbSNP:57369925
complement(4642)-t, cdbSNP:2035471
Gene SymbolALDH7A1
Gene SynonymATQ1; EPD; PDE
Chromosome5
Locus Map5q31
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001182 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $1733.55
ORF Sequence $469.80
NM_001201377 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA. Full Length $1733.55
ORF Sequence $445.44
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. Full Length $1666.35
ORF Sequence $437.61
Title The measurement of urinary Delta(1)-piperideine-6-carboxylate, the alter ego of alpha-aminoadipic semialdehyde, in Antiquitin deficiency .
Author Struys,E.A., Bok,L.A., Emal,D., Houterman,S., Willemsen,M.A. and Jakobs,C.
Journal J. Inherit. Metab. Dis. 35 (5), 909-916 (2012)
Title Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy .
Author Coulter-Mackie,M.B., Li,A., Lian,Q., Struys,E., Stockler,S. and Waters,P.J.
Journal Mol. Genet. Metab. 106 (4), 478-481 (2012)
Title Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1 .
Author Milh,M., Pop,A., Kanhai,W., Villeneuve,N., Cano,A., Struys,E.A., Salomons,G.S., Chabrol,B. and Jakobs,C.
Journal Mol. Genet. Metab. 105 (4), 684-686 (2012)
Title The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis .
Author van den Hoogen,C., van der Horst,G., Cheung,H., Buijs,J.T., Pelger,R.C. and van der Pluijm,G.
Journal Clin. Exp. Metastasis 28 (7), 615-625 (2011)
Title Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress .
Author Brocker,C., Lassen,N., Estey,T., Pappa,A., Cantore,M., Orlova,V.V., Chavakis,T., Kavanagh,K.L., Oppermann,U. and Vasiliou,V.
Journal J. Biol. Chem. 285 (24), 18452-18463 (2010)
Title Is antiquitin a mitochondrial Enzyme? .
Author Wong,J.W., Chan,C.L., Tang,W.K., Cheng,C.H. and Fong,W.P.
Journal J. Cell. Biochem. 109 (1), 74-81 (2010)
Title Gene expression profile of the human trabecular meshwork: NEIBank sequence tag analysis .
Author Tomarev,S.I., Wistow,G., Raymond,V., Dubois,S. and Malyukova,I.
Journal Invest. Ophthalmol. Vis. Sci. 44 (6), 2588-2596 (2003)
Title A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31 .
Author Cormier-Daire,V., Dagoneau,N., Nabbout,R., Burglen,L., Penet,C., Soufflet,C., Desguerre,I., Munnich,A. and Dulac,O.
Journal Am. J. Hum. Genet. 67 (4), 991-993 (2000)
Title An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1) .
Author Skvorak,A.B., Robertson,N.G., Yin,Y., Weremowicz,S., Her,H., Bieber,F.R., Beisel,K.W., Lynch,E.D., Beier,D.R. and Morton,C.C.
Journal Genomics 46 (2), 191-199 (1997)
Title Homology between a human protein and a protein of the green garden pea .
Author Lee,P., Kuhl,W., Gelbart,T., Kamimura,T., West,C. and Beutler,E.
Journal Genomics 21 (2), 371-378 (1994)

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