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ALDH7A1 (aldehyde dehydrogenase 7 family member A1)

Gene

501

Aldehyde dehydrogenase 7 family member A1

ALDH7A1

ATQ1, EPD, EPEO4, PDE

5q23.2

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 particula

Show/Hide all(70)

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

Show/Hide all(140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052595	hsa-let-7a-5p	CLASH	23622248
MIRT051932	hsa-let-7b-5p	CLASH	23622248
MIRT051376	hsa-let-7f-5p	CLASH	23622248
MIRT041487	hsa-miR-193b-3p	CLASH	23622248
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT777674	hsa-miR-1207-5p	CLIP-seq
MIRT777675	hsa-miR-1208	CLIP-seq
MIRT777676	hsa-miR-1277	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777678	hsa-miR-214	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777681	hsa-miR-3064-3p	CLIP-seq
MIRT777682	hsa-miR-3123	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777684	hsa-miR-3150a-3p	CLIP-seq
MIRT777685	hsa-miR-3175	CLIP-seq
MIRT777686	hsa-miR-3190	CLIP-seq
MIRT777687	hsa-miR-3202	CLIP-seq
MIRT777688	hsa-miR-338-3p	CLIP-seq
MIRT777689	hsa-miR-342-5p	CLIP-seq
MIRT777690	hsa-miR-3619-5p	CLIP-seq
MIRT777691	hsa-miR-3663-5p	CLIP-seq
MIRT777692	hsa-miR-371-5p	CLIP-seq
MIRT777693	hsa-miR-371b-5p	CLIP-seq
MIRT777694	hsa-miR-3919	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777696	hsa-miR-4272	CLIP-seq
MIRT777697	hsa-miR-4433	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT777699	hsa-miR-4450	CLIP-seq
MIRT777700	hsa-miR-4525	CLIP-seq
MIRT777701	hsa-miR-4530	CLIP-seq
MIRT777702	hsa-miR-4533	CLIP-seq
MIRT777703	hsa-miR-4664-5p	CLIP-seq
MIRT777704	hsa-miR-4667-5p	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777706	hsa-miR-4691-5p	CLIP-seq
MIRT777707	hsa-miR-4700-5p	CLIP-seq
MIRT777708	hsa-miR-4716-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777711	hsa-miR-4736	CLIP-seq
MIRT777712	hsa-miR-4755-3p	CLIP-seq
MIRT777713	hsa-miR-4757-5p	CLIP-seq
MIRT777714	hsa-miR-4760-3p	CLIP-seq
MIRT777715	hsa-miR-4763-3p	CLIP-seq
MIRT777716	hsa-miR-483-5p	CLIP-seq
MIRT777717	hsa-miR-490-3p	CLIP-seq
MIRT777718	hsa-miR-548u	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777720	hsa-miR-649	CLIP-seq
MIRT777721	hsa-miR-759	CLIP-seq
MIRT777722	hsa-miR-761	CLIP-seq
MIRT777723	hsa-miR-766	CLIP-seq
MIRT777724	hsa-miR-939	CLIP-seq
MIRT777725	hsa-miR-944	CLIP-seq
MIRT777726	hsa-miR-1283	CLIP-seq
MIRT777727	hsa-miR-136	CLIP-seq
MIRT777728	hsa-miR-1470	CLIP-seq
MIRT777729	hsa-miR-1827	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT777731	hsa-miR-3618	CLIP-seq
MIRT777732	hsa-miR-3929	CLIP-seq
MIRT777733	hsa-miR-4297	CLIP-seq
MIRT777734	hsa-miR-4419b	CLIP-seq
MIRT777735	hsa-miR-4459	CLIP-seq
MIRT777736	hsa-miR-4478	CLIP-seq
MIRT777737	hsa-miR-4649-3p	CLIP-seq
MIRT777738	hsa-miR-4667-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777739	hsa-miR-485-5p	CLIP-seq
MIRT777740	hsa-miR-539	CLIP-seq
MIRT777741	hsa-miR-548a-3p	CLIP-seq
MIRT777742	hsa-miR-548e	CLIP-seq
MIRT777743	hsa-miR-548f	CLIP-seq
MIRT777744	hsa-miR-580	CLIP-seq
MIRT777745	hsa-miR-642a	CLIP-seq
MIRT777746	hsa-miR-940	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT1929608	hsa-miR-3612	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT1929610	hsa-miR-650	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2170436	hsa-miR-5095	CLIP-seq
MIRT2170437	hsa-miR-552	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT2384069	hsa-miR-3134	CLIP-seq
MIRT2384070	hsa-miR-3622b-5p	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT2384071	hsa-miR-4534	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT2384072	hsa-miR-4793-5p	CLIP-seq
MIRT2384073	hsa-miR-501-3p	CLIP-seq
MIRT2384074	hsa-miR-502-3p	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2473076	hsa-miR-205	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT2473077	hsa-miR-3614-3p	CLIP-seq
MIRT2473078	hsa-miR-451b	CLIP-seq
MIRT2473079	hsa-miR-4679	CLIP-seq
MIRT2473080	hsa-miR-642b	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq

Show/Hide all(15)

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

MIM	HGNC	e!Ensembl
107323	877	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) (P

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

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

Interactions

View interactions

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