Homo sapiens Gene: ALDH7A1
Summary
InnateDB Gene IDBG-39345.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALDH7A1
Gene Name aldehyde dehydrogenase 7 family, member A1
Synonyms ATQ1; EPD; PDE
Species Homo sapiens
Ensembl Gene ENSG00000164904
Encoded Proteins
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
aldehyde dehydrogenase 7 family, member A1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:126541841-126595418
Strand Reverse strand
Band q23.2
Transcripts
ENST00000409134 ENSP00000387123
ENST00000447989 ENSP00000414132
ENST00000433026
ENST00000413020
ENST00000458249 ENSP00000403929
ENST00000412186 ENSP00000414536
ENST00000485852
ENST00000497231
ENST00000476328
ENST00000503281
ENST00000509459
ENST00000511266
ENST00000510111 ENSP00000447388
ENST00000509270 ENSP00000449318
ENST00000479989
ENST00000553117 ENSP00000448593
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.
Experimentally validated
Total 28 [view]
Protein-Protein 28 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004029 aldehyde dehydrogenase (NAD) activity
GO:0004043 L-aminoadipate-semialdehyde dehydrogenase activity
GO:0005515 protein binding
GO:0008802 betaine-aldehyde dehydrogenase activity
GO:0016491 oxidoreductase activity
GO:0016620 oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor
Biological Process
GO:0006081 cellular aldehyde metabolic process
GO:0006554 lysine catabolic process
GO:0007605 sensory perception of sound
GO:0008152 metabolic process
GO:0019285 glycine betaine biosynthetic process from choline
GO:0034641 cellular nitrogen compound metabolic process
GO:0044281 small molecule metabolic process
GO:0055114 oxidation-reduction process
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Lysine catabolism pathway
Metabolism of amino acids and derivatives pathway
Metabolism pathway
KEGG
Glycolysis / Gluconeogenesis pathway
Histidine metabolism pathway
Pyruvate metabolism pathway
Valine, leucine and isoleucine degradation pathway
Arginine and proline metabolism pathway
Glycine, serine and threonine metabolism pathway
Tryptophan metabolism pathway
Fatty acid degradation pathway
Lysine biosynthesis pathway
Lysine degradation pathway
Ascorbate and aldarate metabolism pathway
beta-Alanine metabolism pathway
Glycerolipid metabolism pathway
INOH
Tryptophan degradation pathway
Propanoate metabolism pathway
Arginine Proline metabolism pathway
Pyruvate metabolism pathway
Valine Leucine Isoleucine degradation pathway
Lysine degradation pathway
Histidine degradation pathway
PID NCI
Cross-References
SwissProt
TrEMBL H0YHM6
UniProt Splice Variant
Entrez Gene 501
UniGene Hs.483239 Hs.685289
RefSeq NM_001182 NM_001201377 NM_001202404
HUGO HGNC:877
OMIM 107323
CCDS CCDS4137 CCDS56380
HPRD 00124
IMGT
EMBL AC093535 AC099513
GenPept
RNA Seq Atlas 501