ALDH7A1

Protein identityUniProt · HPA

UniProt accession

P49419

Gene

ALDH7A1

Ensembl

ENSG00000164904

Chromosome

5

Canonical length

539 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

Quaternary structure

Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

539 residues, UniProt reviewed canonical sequence.

>P49419|ALDH7A1
     1  MWRLPRALCV HAAKTSKLSG PWSRPAAFMS TLLINQPQYA WLKELGLREE NEGVYNGSWG
    61  GRGEVITTYC PANNEPIARV RQASVADYEE TVKKAREAWK IWADIPAPKR GEIVRQIGDA
   121  LREKIQVLGS LVSLEMGKIL VEGVGEVQEY VDICDYAVGL SRMIGGPILP SERSGHALIE
   181  QWNPVGLVGI ITAFNFPVAV YGWNNAIAMI CGNVCLWKGA PTTSLISVAV TKIIAKVLED
   241  NKLPGAICSL TCGGADIGTA MAKDERVNLL SFTGSTQVGK QVGLMVQERF GRSLLELGGN
   301  NAIIAFEDAD LSLVVPSALF AAVGTAGQRC TTARRLFIHE SIHDEVVNRL KKAYAQIRVG
   361  NPWDPNVLYG PLHTKQAVSM FLGAVEEAKK EGGTVVYGGK VMDRPGNYVE PTIVTGLGHD
   421  ASIAHTETFA PILYVFKFKN EEEVFAWNNE VKQGLSSSIF TKDLGRIFRW LGPKGSDCGI
   481  VNVNIPTSGA EIGGAFGGEK HTGGGRESGS DAWKQYMRRS TCTINYSKDL PLAQGIKFQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALDH7A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

152 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALDH7A1.

Disease | AllUniProt

Conditions ALDH7A1 is implicated in, by any mechanism.

• Epilepsy, early-onset, 4, vitamin B6-dependent (EPEO4) MIM:266100

Disease | GeneticClinVar

187 pathogenic / likely-pathogenic of 1,178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pyridoxine-dependent epilepsy
• Inborn genetic diseases
• Seizure
• ALDH7A1-related disorder
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.24

gnomAD pLI

0

gnomAD missense Z

0.37

DepMap mean gene effect

-0.01

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aldehyde metabolic process
• choline catabolic process
• endosome to lysosome transport
• energy homeostasis
• glycine betaine biosynthetic process from choline
• Golgi to endosome transport
• lysine catabolic process
• negative regulation of ferroptosis
• negative regulation of Golgi to plasma membrane protein transport
• plasma membrane to endosome transport
• sensory perception of sound
• L-lysine catabolic process
• negative regulation of endosome to plasma membrane protein transport

Molecular functions

• aldehyde dehydrogenase (NAD+) activity
• identical protein binding
• oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor
• betaine-aldehyde dehydrogenase (NAD+) activity
• L-aminoadipate-semialdehyde dehydrogenase [NAD(P)+] activity

Cellular components

• cytosol
• extracellular exosome
• Golgi membrane
• mitochondrial matrix
• mitochondrion
• nucleus
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Aldehyde dehydrogenase domain
• Aldehyde/histidinol dehydrogenase
• Aldehyde dehydrogenase, N-terminal
• Aldehyde dehydrogenase, C-terminal
• Aldehyde dehydrogenase, glutamic acid active site
• Aldehyde dehydrogenase family
• Aldehyde dehydrogenase family 7 member A1-like

KeywordsUniProt

• Acetylation
• Cell membrane
• Cytoplasm
• Epilepsy
• Golgi apparatus
• Membrane
• Mitochondrion
• NAD
• Nucleus
• Oxidoreductase
• Phosphoprotein
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of ALDH7A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EPS8