Entity Details

Primary name AL7A1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP49419
EntryNameAL7A1_HUMAN
FullNameAlpha-aminoadipic semialdehyde dehydrogenase
TaxID9606
Evidenceevidence at protein level
Length539
SequenceStatuscomplete
DateCreated1996-02-01
DateModified2021-06-02

Ontological Relatives

GenesALDH7A1

GO terms

Show/Hide Table
GOName
GO:0004029 aldehyde dehydrogenase (NAD+) activity
GO:0004043 L-aminoadipate-semialdehyde dehydrogenase activity
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006081 cellular aldehyde metabolic process
GO:0006554 lysine catabolic process
GO:0007605 sensory perception of sound
GO:0008802 betaine-aldehyde dehydrogenase activity
GO:0019285 glycine betaine biosynthetic process from choline
GO:0042426 choline catabolic process
GO:0042802 identical protein binding
GO:0043878 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity
GO:0070062 extracellular exosome

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasm
Mitochondrion
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR015590 Aldehyde dehydrogenase domainDomainDomain
IPR016161 Aldehyde/histidinol dehydrogenaseFamilyHomologous superfamily
IPR016162 Aldehyde dehydrogenase, N-terminalFamilyHomologous superfamily
IPR016163 Aldehyde dehydrogenase, C-terminalFamilyHomologous superfamily
IPR029510 Aldehyde dehydrogenase, glutamic acid active siteSiteConserved site
IPR044638 Aldehyde dehydrogenase family 7 member A1-likeFamilyFamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
266100 OMIMPyridoxine-dependent epilepsy (PDE)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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

Show/Hide Table
DrugNameSourceType
DB00157 NADHDrugbanksmall molecule
DB11638 ArtenimolDrugbanksmall molecule

Interactions

7 interactions