ALDH7A1 (aldehyde dehydrogenase 7 family member A1)

Gene

• Entrez ID: 501
• Gene name: Aldehyde dehydrogenase 7 family member A1
• Gene symbol: ALDH7A1
• Synonyms: ATQ1, EPD, PDE
• Chromosome: 5
• Chromosome location: 5q23.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61757684	T>A,C	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121912707	C>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912708	G>A,C	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121912709	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912710	A>C,G	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121912711	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs140102105	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs140845195	C>A,T	Pathogenic	Splice acceptor variant
rs144701796	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs147940248	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs186558364	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs199497486	C>T	Pathogenic	Splice donor variant
rs200394848	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs201948406	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant
rs368427726	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs368820286	C>T	Pathogenic	Intron variant
rs369859575	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs372660425	T>C	Pathogenic	Missense variant, coding sequence variant
rs376917645	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906574	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs543181020	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs555896752	A>C	Pathogenic	Missense variant, coding sequence variant
rs556400964	C>G	Pathogenic	Missense variant, coding sequence variant
rs563928852	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs587780850	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs747597620	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs747643987	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750693623	C>-	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs754449549	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs758414053	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764417585	G>T	Pathogenic	Coding sequence variant, missense variant
rs764588746	C>T	Likely-pathogenic	Splice donor variant
rs765119568	TCAATCAGTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs767805540	->TGGT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs773814169	T>A	Likely-pathogenic	Intron variant
rs777829351	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs778003597	->G	Pathogenic	Coding sequence variant, frameshift variant
rs779494572	C>G	Pathogenic	Splice acceptor variant
rs779652673	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs780233639	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727058	C>T	Pathogenic	Intron variant, splice donor variant
rs796052260	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs796052267	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052270	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs796052271	C>A	Pathogenic	Coding sequence variant, missense variant
rs864622557	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864622558	C>T	Pathogenic	Coding sequence variant, missense variant
rs935431600	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs994001880	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1015686016	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060499755	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060502949	C>G	Likely-pathogenic	Splice acceptor variant
rs1064793830	C>A	Pathogenic	Splice donor variant
rs1064794053	C>G	Pathogenic	Splice acceptor variant
rs1064794240	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794241	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794242	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691580	C>A,T	Likely-pathogenic	Intron variant
rs1131691976	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1217642695	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1270423610	G>A	Pathogenic	Coding sequence variant, stop gained
rs1389460034	A>G	Pathogenic	Splice donor variant
rs1444879414	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554099008	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554100454	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554101995	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1561672504	A>T	Pathogenic	Splice donor variant
rs1581357507	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1581368665	T>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041487	hsa-miR-193b-3p	CLASH	23622248
MIRT051376	hsa-let-7f-5p	CLASH	23622248
MIRT051932	hsa-let-7b-5p	CLASH	23622248
MIRT052595	hsa-let-7a-5p	CLASH	23622248
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	ISS
GO:0004043	Function	L-aminoadipate-semialdehyde dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	21988832
GO:0005634	Component	Nucleus	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006081	Process	Cellular aldehyde metabolic process	ISS
GO:0006554	Process	Lysine catabolic process	TAS
GO:0007605	Process	Sensory perception of sound	TAS	9417906
GO:0008802	Function	Betaine-aldehyde dehydrogenase activity	TAS
GO:0019285	Process	Glycine betaine biosynthetic process from choline	IEA
GO:0042426	Process	Choline catabolic process	TAS
GO:0043878	Function	Glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 107323
• HGNC: 877
• e!Ensembl: ENSG00000164904

Protein

• UniProt ID: P49419
• Protein name: Alpha-aminoadipic semialdehyde dehydrogenase (Alpha-AASA dehydrogenase) (EC 1.2.1.31) (Aldehyde dehydrogenase family 7 member A1) (EC 1.2.1.3) (Antiquitin-1) (Betaine aldehyde dehydrogenase) (EC 1.2.1.8) (Delta1-piperideine-6-carboxylate dehydrogenase) (P6c dehydrogenase)
• Protein 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.
• PDB: 2J6L, 4X0T, 4X0U, 4ZUK, 4ZUL, 4ZVW, 4ZVX, 4ZVY, 6O4B, 6O4C, 6O4D, 6O4E, 6O4F, 6O4G, 6O4H, 6O4I, 6O4K, 6O4L, 6U2X, 6V0Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	59 → 522	Aldehyde dehydrogenase family	Family

• Sequence:

  MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWG
  GRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDA
  LREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIE
  QWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
  NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
  NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVG
  NPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
  ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
  VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

• Sequence length: 539

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Ascorbate and aldarate metabolism
Fatty acid degradation
Glycine, serine and threonine metabolism
Valine, leucine and isoleucine degradation
Lysine degradation
Arginine and proline metabolism
Histidine metabolism
Tryptophan metabolism
beta-Alanine metabolism
Glycerolipid metabolism
Pyruvate metabolism
Metabolic pathways

Reactome:

Choline catabolism
Lysine catabolism

Associated diseases

Disease name	Disease term	References
	Bone Diseases	25004007
	Respiratory Distress Syndrome, Newborn
	Cerebral cortical atrophy
	Congenital ocular coloboma (disorder)	25004007
	Convulsions in the newborn
	Global developmental delay
	Diabetes Mellitus, Non-Insulin-Dependent	29221444
	Dysmorphic features	16491085, 23350806, 8913181, 19142996, 18762976, 17088338, 20554659, 17068770, 16159904
	EPILEPSY, PYRIDOXINE-DEPENDENT	17068770, 20554659, 24122892, 18717709, 22529283, 26232297, 23430810, 17721876, 22784480, 28087462, 22371912, 27604308, 16491085, 19128417, 26101365, 20370816, 23054014, 23022070, 29061647, 27438048, 26224730, 20814824, 29053735, 23350806
	Hereditary Diffuse Gastric Cancer	21364753
	Intellectual Disability
	Movement Disorders
	Generalized myoclonic seizures
	Osteoporosis	20072603
	Pyridoxine-dependent epilepsy
	Tonic - clonic seizures
	Speech Disorders
	Status Epilepticus
	Malignant neoplasm of stomach	21364753
	Stomach Neoplasms	21364753
	Strabismus
	Uveoretinal Coloboma	25004007