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Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22641 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu22641C Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. Customized vector On-demand $269.00 7-9

*Business Day

Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_001202404.1, 320202963
Length 1509 bp
Structure linear
Update Date 10-MAY-2014
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)order(490..492,508..510,517..519,535..537,556..558,
Misc Feature(4)order(766..777,844..846,850..855,964..969,1006..1017,
Misc Feature(5)order(775..777,1078..1080,1171..1173,1180..1182)
Misc Feature(6)193..195
Misc Feature(7)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
159+c, gdbSNP:140627539
complement(230)-g, cdbSNP:367820135
complement(231)-t, cdbSNP:201566142
235+a, tdbSNP:1049211
252+a, tdbSNP:1049214
complement(255)-g, adbSNP:368427726
258+c, gdbSNP:1049217
270+c, tdbSNP:11542969
complement(287)-t, adbSNP:375009404
complement(303)-g, adbSNP:372328305
complement(331)-g, adbSNP:144684547
complement(375)-t, gdbSNP:374526203
complement(395)-dbSNP:
complement(395)-t, gdbSNP:58528748
complement(399)-g, adbSNP:369516597
complement(435)-t, cdbSNP:146438406
complement(454)-dbSNP:
complement(454)-g, adbSNP:368517032
complement(455)-t, adbSNP:376294954
complement(465)-g, adbSNP:60720055
520+dbSNP:
520+c, tdbSNP:121912708
complement(546)-g, adbSNP:149228266
complement(554)-g, adbSNP:145329188
complement(556)-g, adbSNP:370624118
complement(565)-t, cdbSNP:117295656
complement(615)-dbSNP:
complement(615)-g, cdbSNP:199653162
complement(642)-g, adbSNP:375095250
complement(686)-g, cdbSNP:375491094
complement(711)-dbSNP:
complement(711)-t, adbSNP:200447936
complement(721)-g, cdbSNP:140102105
complement(744)-g, adbSNP:369859575
complement(745)-t, cdbSNP:61757685
complement(767)-g, adbSNP:376917645
complement(776)-t, cdbSNP:372660425
788+c, tdbSNP:121912709
complement(807)-g, adbSNP:369380330
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(1021)-dbSNP:
complement(1021)-g, cdbSNP:369271104
complement(1026)-t, cdbSNP:201948406
complement(1050)-t, cdbSNP:150623275
1094+dbSNP:
1094+a, tdbSNP:121912711
complement(1106)-dbSNP:
complement(1106)-g, cdbSNP:141775154
complement(1122)-g, adbSNP:202069068
complement(1142)-g, adbSNP:148052962
complement(1152)-g, adbSNP:114516357
1154+c, tdbSNP:3189320
complement(1190)-g, adbSNP:144625212
complement(1192)-t, cdbSNP:111319259
complement(1210)-dbSNP:
complement(1210)-g, adbSNP:181287032
1224+g, tdbSNP:121912710
complement(1234)-t, cdbSNP:2306618
complement(1234)-g, adbSNP:56220725
complement(1237)-t, cdbSNP:201792544
complement(1276)-t, cdbSNP:150305320
complement(1287)-g, adbSNP:375030056
complement(1292)-g, adbSNP:151107837
complement(1296)-c, adbSNP:372127110
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(1384)-t, cdbSNP:375090702
complement(1396)-t, cdbSNP:113609617
complement(1406)-t, cdbSNP:147940248
complement(1442)-dbSNP:
complement(1442)-g, adbSNP:144701796
complement(1461)-t, cdbSNP:372488916
complement(1486)-g, adbSNP:202104680
complement(1520)-t, cdbSNP:80049945
complement(1547)-t, cdbSNP:200102503
complement(1567)-dbSNP:
complement(1567)-t, cdbSNP:61757684
1597+, gdbSNP:387906574
complement(1653)-t, cdbSNP:374780587
complement(1662)-g, cdbSNP:371971136
complement(1666)-c, adbSNP:372788241
1688+a, gdbSNP:2775
complement(1760)-g, cdbSNP:374361465
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
2168+c, tdbSNP:1060856
complement(2261)-t, cdbSNP:372065850
complement(2265)-t, gdbSNP:367884177
complement(2296)-g, adbSNP:7447380
complement(2310)-g, adbSNP:139905907
2346+c, tdbSNP:1060857
2351+a, gdbSNP:1138001
complement(2427)-g, cdbSNP:1807
2438+a, gdbSNP:1138005
complement(2600..2601)-, tdbSNP:60217601
complement(2600..2601)-, tdbSNP:397959619
complement(2600)-t, gdbSNP:74892068
complement(2620..2621)-, ttdbSNP:368894310
complement(2656)-g, cdbSNP:370883463
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(2838)-g, cdbSNP:372984832
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..3369)-at, cadbSNP:386692155
3368+a, tdbSNP:744721
complement(3369)-, cdbSNP:199550747
3369+g, tdbSNP:744722
complement(3424)-t, cdbSNP:744723
complement(3504)-g, cdbSNP:189465791
complement(3741)-g, adbSNP:375841477
complement(3746)-t, cdbSNP:115168957
complement(3767)-, cdbSNP:369180172
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(4126)-t, cdbSNP:370442664
complement(4132)-t, cdbSNP:76363408
complement(4195)-g, adbSNP:114287342
complement(4223)-t, cdbSNP:74415886
complement(4287)-, gdbSNP:201421709
complement(4317)-g, adbSNP:368844061
complement(4384)-t, cdbSNP:181028716
complement(4403)-t, cdbSNP:148309568
complement(4408)-g, cdbSNP:189486979
complement(4418..4419)-, adbSNP:11395324
complement(4419)-, adbSNP:59667289
complement(4436)-g, adbSNP:77525381
complement(4439)-, gdbSNP:370255749
complement(4462)-t, cdbSNP:145424881
complement(4517)-g, cdbSNP:184098590
complement(4534)-t, adbSNP:192950824
complement(4549)-t, cdbSNP:370866834
complement(4606..4607)-, adbSNP:397760043
complement(4606)-g, adbSNP:369855064
complement(4617..4618)-, adbSNP:5871217
complement(4624)-t, cdbSNP:57369925
4642+c, tdbSNP:2035471
Gene SymbolALDH7A1
Gene SynonymATQ1; EPD; PDE
Chromosome5
Locus Map5q31
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. On-demand $219.00 7-9
NM_001202404 Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 2, mRNA. On-demand $219.00 7-9
Title Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants .
Author Yang Z, Yang X, Wu Y, Wang J, Zhang Y, Xiong H, Jiang Y and Qin J.
Journal PLoS ONE 9 (3), E92803 (2014)
Title Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy .
Author Jansen LA, Hevner RF, Roden WH, Hahn SH, Jung S and Gospe SM Jr.
Journal Ann. Neurol. 75 (1), 22-32 (2014)
Title Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations .
Author Mercimek-Mahmutoglu,S., Donner,E.J. and Siriwardena,K.
Journal Mol. Genet. Metab. 110 (1-2), 197 (2013)
Title ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma .
Author Giacalone NJ, Den RB, Eisenberg R, Chen H, Olson SJ, Massion PP, Carbone DP and Lu B.
Journal Future Oncol 9 (5), 737-745 (2013)
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 VV, Chavakis T, Kavanagh KL, Oppermann U and Vasiliou V.
Journal J. Biol. Chem. 285 (24), 18452-18463 (2010)
Title Is antiquitin a mitochondrial Enzyme? .
Author Wong JW, Chan CL, Tang WK, Cheng CH and Fong WP.
Journal J. Cell. Biochem. 109 (1), 74-81 (2010)
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 AB, Robertson NG, Yin Y, Weremowicz S, Her H, Bieber FR, Beisel KW, Lynch ED, Beier DR and Morton CC.
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)
Title Pyridoxine-Dependent Epilepsy .
Author Gospe,S.M.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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