Alpha-aminoadipic semialdehyde dehydrogenase

Names and origin

Protein names

Recommended name:
    Alpha-aminoadipic semialdehyde dehydrogenase
      Short name=Alpha-AASA dehydrogenase
    EC=1.2.1.31
Alternative name(s):
    Delta1-piperideine-6-carboxylate dehydrogenease
      Short name=P6c dehydrogenase
    Aldehyde dehydrogenase family 7 member A1
    Antiquitin-1

Gene names

Name:	ALDH7A1
Synonyms:	ATQ1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	511 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Catalytic activity	L-2-aminoadipate 6-semialdehyde + NAD(P)(+) + H(2)O = L-2-aminoadipate + NAD(P)H.
Subunit structure	Homotetramer By similarity.
Tissue specificity	Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue.
Involvement in disease	Defects in ALDH7A1 are the cause of pyridoxine-dependent epilepsy (PDE) [MIM:266100]. PDE is characterized by a combination of various seizure types. It usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride.
Sequence similarities	Belongs to the aldehyde dehydrogenase family.
Sequence caution	The sequence AAC51935.1 differs from that shown. Reason: Frameshift at positions 205 and 230.

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Ontologies

Keywords
Coding sequence diversity	Polymorphism
Disease	Disease mutation Epilepsy
Ligand	NAD
Molecular function	Oxidoreductase
Technical term	3D-structure
Gene Ontology (GO)
Biological process	cellular aldehyde metabolic process Inferred from sequence or structural similarity. Source: UniProtKB oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW sensory perception of sound Ref.3 Traceable author statement. Source: ProtInc
Molecular function	L-aminoadipate-semialdehyde dehydrogenase activity Inferred from electronic annotation. Source: EC aldehyde dehydrogenase (NAD) activity Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

Removed By similarity

Chain

2 – 511

510

Alpha-aminoadipic semialdehyde dehydrogenase

PRO_0000056490

Regions

Nucleotide binding

246 – 251

6

NAD By similarity

Sites

Active site

268

1

Proton acceptor By similarity

Active site

302

1

Nucleophile By similarity

Site

167

1

Transition state stabilizer By similarity

Natural variations

Natural variant

171

1

A → V in PDE.

VAR_031718

Natural variant

384

1

T → A: dbSNP rs2306618.

VAR_028202

Natural variant

399

1

E → Q in PDE.

VAR_031719

Natural variant

411

1

K → Q: dbSNP rs12514417.

VAR_028203

Secondary structure

1

.

511

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

P49419-1 [UniParc].

Last modified January 23, 2007. Version 4.
Checksum: 08F6F7672C948E2C
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FASTA

511

55,366

        10         20         30         40         50         60 
MSTLLINQPQ YAWLKELGLR EENEGVYNGS WGGRGEVITT YCPANNEPIA RVRQASVADY 

        70         80         90        100        110        120 
EETVKKAREA WKIWADIPAP KRGEIVRQIG DALREKIQVL GSLVSLEMGK ILVEGVGEVQ 

       130        140        150        160        170        180 
EYVDICDYAV GLSRMIGGPI LPSERSGHAL IEQWNPVGLV GIITAFNFPV AVYGWNNAIA 

       190        200        210        220        230        240 
MICGNVCLWK GAPTTSLISV AVTKIIAKVL EDNKLPGAIC SLTCGGADIG TAMAKDERVN 

       250        260        270        280        290        300 
LLSFTGSTQV GKQVGLMVQE RFGRSLLELG GNNAIIAFED ADLSLVVPSA LFAAVGTAGQ 

       310        320        330        340        350        360 
RCTTARRLFI HESIHDEVVN RLKKAYAQIR VGNPWDPNVL YGPLHTKQAV SMFLGAVEEA 

       370        380        390        400        410        420 
KKEGGTVVYG GKVMDRPGNY VEPTIVTGLG HDASIAHTET FAPILYVFKF KNEEEVFAWN 

       430        440        450        460        470        480 
NEVKQGLSSS IFTKDLGRIF RWLGPKGSDC GIVNVNIPTS GAEIGGAFGG EKHTGGGRES 

       490        500        510 
GSDAWKQYMR RSTCTINYSK DLPLAQGIKF Q

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Homology between a human protein and a protein of the green garden pea." Lee P., Kuhl W., Gelbart T., Kamimura T., West C., Beutler E. Genomics 21:371-378(1994) [PubMed: 8088832] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Kidney, Liver and Placenta.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLN-411. Tissue: Placenta and Uterus.
[3]	"An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1)." Skvorak A.B., Robertson N.G., Yin Y., Weremowicz S., Her H., Bieber F.R., Beisel K.W., Lynch E.D., Beier D.R., Morton C.C. Genomics 46:191-199(1997) [PubMed: 9417906] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-230, TISSUE SPECIFICITY.
[4]	"Mutations in antiquitin in individuals with pyridoxine-dependent seizures." Mills P.B., Struys E., Jakobs C., Plecko B., Baxter P., Baumgartner M., Willemsen M.A.A.P., Omran H., Tacke U., Uhlenberg B., Weschke B., Clayton P.T. Nat. Med. 12:307-309(2006) [PubMed: 16491085] [Abstract] Cited for: VARIANTS PDE VAL-171 AND GLN-399, FUNCTION.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

S74728 mRNA. Translation: AAB31966.1.
BC002515 mRNA. Translation: AAH02515.3.
BC071712 mRNA. Translation: AAH71712.1.
BC073174 mRNA. Translation: AAH73174.1.
AF002696 Genomic DNA. Translation: AAC51935.1. Sequence problems.

PIR

A54676.

RefSeq

NP_001173.2.

UniGene

Hs.483239