P49419 · AL7A1_HUMAN

  • Protein
    Alpha-aminoadipic semialdehyde dehydrogenase
  • Gene
    ALDH7A1
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived aldehydes. Involved in lysine catabolism.

Catalytic activity

  • H2O + NAD+ + nonanal = 2 H+ + NADH + nonanoate
    This reaction proceeds in the forward direction.
  • (S)-2-amino-6-oxohexanoate + H2O + NAD+ = 2 H+ + L-2-aminoadipate + NADH
    This reaction proceeds in the forward direction.
    EC:1.2.1.31 (UniProtKB | ENZYME | Rhea)
  • betaine aldehyde + H2O + NAD+ = glycine betaine + 2 H+ + NADH
    This reaction proceeds in the forward direction.
    EC:1.2.1.8 (UniProtKB | ENZYME | Rhea)
  • an aldehyde + H2O + NAD+ = a carboxylate + 2 H+ + NADH
    This reaction proceeds in the forward direction.
    EC:1.2.1.3 (UniProtKB | ENZYME | Rhea)
  • H2O + hexanal + NAD+ = 2 H+ + hexanoate + NADH
    This reaction proceeds in the forward direction.
  • H2O + NAD+ + octanal = 2 H+ + NADH + octanoate
    This reaction proceeds in the forward direction.
  • (E)-non-2-enal + H2O + NAD+ = (E)-non-2-enoate + 2 H+ + NADH
    This reaction proceeds in the forward direction.
  • (E)-4-hydroxynon-2-enal + H2O + NAD+ = (E)-4-hydroxynon-2-enoate + 2 H+ + NADH
    This reaction proceeds in the forward direction.

Kinetics

KM SUBSTRATE pH TEMPERATURE[C] NOTES EVIDENCE
28.5 μMnonanal
5.3 μMtrans-2-nonenal
39.1 μMhexanal
17.5 μMoctanal
41.1 μMbetaine aldehyde
169 μML-2-aminoadipate 6-semialdehyde
530.2 μMbenzaldehyde
647.4 μMpropanal
7374.3 μMglyceraldehyde
119.5 μM(E)-4-hydroxynon-2-enal
Vmax pH TEMPERATURE[C] NOTES EVIDENCE
364.9 nmol/min/mgtoward nonanal
323.5 nM/min/mgtoward (E)-4-hydroxynon-2-enal
34.9 nmol/min/mgtoward trans-2-nonenal
243.3 nmol/min/mgtoward hexanal
72.3 nmol/min/mgtoward octanal
101.4 nmol/min/mgtoward betaine aldehyde
276.2 nmol/min/mgtoward L-2-aminoadipate 6-semialdehyde
125.2 nmol/min/mgtoward benzaldehyde
69.9 nmol/min/mgtoward propanal
174 nmol/min/mgtoward glyceraldehyde

Pathway

Amine and polyamine biosynthesis; betaine biosynthesis via choline pathway; betaine from betaine aldehyde: step 1/1.

Features

Showing features for binding site, site, active site.

TypeIDPosition(s)Description
Binding site192-194NAD+ (UniProtKB | ChEBI)
Site195Transition state stabilizer
Binding site218NAD+ (UniProtKB | ChEBI)
Binding site258-259NAD+ (UniProtKB | ChEBI)
Binding site274-275NAD+ (UniProtKB | ChEBI)
Active site296Proton acceptor
Binding site296-297NAD+ (UniProtKB | ChEBI)
Active site330Nucleophile
Binding site331(S)-2-amino-6-oxohexanoate (UniProtKB | ChEBI)
Binding site427NAD+ (UniProtKB | ChEBI)
Binding site489(S)-2-amino-6-oxohexanoate (UniProtKB | ChEBI)
Binding site490(S)-2-amino-6-oxohexanoate (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Componentcytosol
Cellular Componentextracellular exosome
Cellular Componentmitochondrial matrix
Cellular Componentmitochondrion
Cellular Componentnucleus
Molecular Functionaldehyde dehydrogenase (NAD+) activity
Molecular Functionbetaine-aldehyde dehydrogenase activity
Molecular Functionglyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity
Molecular Functionidentical protein binding
Molecular FunctionL-aminoadipate-semialdehyde dehydrogenase activity
Biological Processcellular aldehyde metabolic process
Biological Processcholine catabolic process
Biological Processglycine betaine biosynthetic process from choline
Biological Processsensory perception of sound

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Alpha-aminoadipic semialdehyde dehydrogenase
  • EC number
  • Short names
    Alpha-AASA dehydrogenase
  • Alternative names
    • Aldehyde dehydrogenase family 7 member A1 (EC:1.2.1.3
      ) . EC:1.2.1.3 (UniProtKB | ENZYME | Rhea)
    • Antiquitin-1
    • Betaine aldehyde dehydrogenase (EC:1.2.1.8
      ) . EC:1.2.1.8 (UniProtKB | ENZYME | Rhea)
    • Delta1-piperideine-6-carboxylate dehydrogenase (P6c dehydrogenase)

Gene names

    • Name
      ALDH7A1
    • Synonyms
      ATQ1

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    P49419
  • Secondary accessions
    • B2R669
    • B4DIC7
    • B4DMA0
    • E7EPT3
    • O14619

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive neurologic disorder ocharacterized 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.
  • See also
    MIM:266100
Natural variants in EPEO4
Variant IDPosition(s)ChangeDescription
VAR_085776110-539missingin EPEO4; loss of alpha-AASA dehydrogenase activity
VAR_031718199A>Vin EPEO4; loss of alpha-AASA dehydrogenase activity; dbSNP:rs121912709
VAR_069184202G>Vin EPEO4
VAR_069185291G>Ein EPEO4
VAR_069186301N>Iin EPEO4; dbSNP:rs121912711
VAR_069187335R>Qin EPEO4; dbSNP:rs754449549
VAR_069188395V>Gin EPEO4
VAR_031719427E>Qin EPEO4; loss of alpha-AASA dehydrogenase activity; dbSNP:rs121912707
VAR_069189458S>Nin EPEO4

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_085776110-539in EPEO4; loss of alpha-AASA dehydrogenase activity
Natural variantVAR_031718199in EPEO4; loss of alpha-AASA dehydrogenase activity; dbSNP:rs121912709
Natural variantVAR_069184202in EPEO4
Natural variantVAR_069185291in EPEO4
Natural variantVAR_069186301in EPEO4; dbSNP:rs121912711
Natural variantVAR_069187335in EPEO4; dbSNP:rs754449549
Natural variantVAR_069188395in EPEO4
Natural variantVAR_028202412in dbSNP:rs2306618
Natural variantVAR_031719427in EPEO4; loss of alpha-AASA dehydrogenase activity; dbSNP:rs121912707
Natural variantVAR_028203439in dbSNP:rs12514417
Natural variantVAR_069189458in EPEO4

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 704 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Chemistry

Genetic variation databases

PTM/Processing

Features

Showing features for initiator methionine, transit peptide, modified residue, chain, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
Initiator methionine1UniProtIn isoform P49419-2; Removed
Transit peptide1-26UniProtMitochondrion
Modified residue2UniProtIn isoform P49419-2; N-acetylserine
ChainPRO_000005649027-539UniProtAlpha-aminoadipic semialdehyde dehydrogenase
Modified residue (large scale data)84PRIDEPhosphoserine
Modified residue94UniProtN6-acetyllysine; alternate
Modified residue94UniProtN6-succinyllysine; alternate
Modified residue462UniProtN6-acetyllysine
Modified residue500UniProtN6-acetyllysine
Modified residue (large scale data)516PRIDEPhosphotyrosine
Modified residue (large scale data)520PRIDEPhosphoserine
Modified residue (large scale data)526PRIDEPhosphotyrosine
Modified residue537UniProtN6-succinyllysine

Keywords

Proteomic databases

PTM databases

Expression

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.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Homotetramer.

Binary interactions

Protein-protein interaction databases

Miscellaneous

Family & Domains

Sequence similarities

Belongs to the aldehyde dehydrogenase family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoforms

Align isoforms (3)
  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.

This entry describes 3 isoforms produced by Alternative splicing.

P49419-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Name
    1
  • Synonyms
    hALDH7A1_v1
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Length
    539
  • Mass (Da)
    58,487
  • Last updated
    2010-04-20 v5
  • Checksum
    05385562F71312B6
MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHDASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

P49419-2

  • Name
    2
  • Synonyms
    hALDH7A1_v2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

P49419-4

  • Name
    4
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 17 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
F8WD33F8WD33_HUMANALDH7A197
F8WDY6F8WDY6_HUMANALDH7A1136
H0YHM6H0YHM6_HUMANALDH7A1239
F8VVF2F8VVF2_HUMANALDH7A1193
A0A1B0GV49A0A1B0GV49_HUMANALDH7A1472
A0A1B0GUY0A0A1B0GUY0_HUMANALDH7A1348
A0A1B0GUA1A0A1B0GUA1_HUMANALDH7A1521
A0A1B0GTY9A0A1B0GTY9_HUMANALDH7A1479
A0A1B0GTJ4A0A1B0GTJ4_HUMANALDH7A1499
A0A1B0GTG2A0A1B0GTG2_HUMANALDH7A1536
A0A1B0GW77A0A1B0GW77_HUMANALDH7A1554
A0A1B0GW82A0A1B0GW82_HUMANALDH7A1545
A0A1B0GW65A0A1B0GW65_HUMANALDH7A177
A0A1B0GVU0A0A1B0GVU0_HUMANALDH7A1164
A0A0J9YWF7A0A0J9YWF7_HUMANALDH7A1294
A0A0J9YWK1A0A0J9YWK1_HUMANALDH7A127
A0A0J9YWM6A0A0J9YWM6_HUMANALDH7A141

Sequence caution

The sequence AAC51935.1 differs from that shown. Reason: Frameshift
The sequence AAH02515.3 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence AAH71712.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence AAH73174.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAG35366.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAG58439.1 differs from that shown. Reason: Miscellaneous discrepancy Aberrant splicing.
The sequence BAG59812.1 differs from that shown. Reason: Erroneous initiation Extended N-terminus.

Features

Showing features for alternative sequence, sequence conflict.

TypeIDPosition(s)Description
Alternative sequenceVSP_0389871-28in isoform 2
Sequence conflict236in Ref. 2; BAG59812
Alternative sequenceVSP_045905337-400in isoform 4

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
S74728
EMBL· GenBank· DDBJ
AAB31966.1
EMBL· GenBank· DDBJ
mRNA
AK312459
EMBL· GenBank· DDBJ
BAG35366.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK295526
EMBL· GenBank· DDBJ
BAG58439.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.
AK297365
EMBL· GenBank· DDBJ
BAG59812.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AC093535
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
AC099513
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC002515
EMBL· GenBank· DDBJ
AAH02515.3
EMBL· GenBank· DDBJ
mRNA Different initiation
BC071712
EMBL· GenBank· DDBJ
AAH71712.1
EMBL· GenBank· DDBJ
mRNA Different initiation
BC073174
EMBL· GenBank· DDBJ
AAH73174.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AF002696
EMBL· GenBank· DDBJ
AAC51935.1
EMBL· GenBank· DDBJ
Genomic DNA Sequence problems.

Genome annotation databases

Similar Proteins

Disclaimer

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