Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	501
Gene name Gene Name - the full gene name approved by the HGNC.	Aldehyde dehydrogenase 7 family member A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALDH7A1
Synonyms (NCBI Gene) Gene synonyms aliases	ATQ1, EPD, EPEO4, PDE
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EPEO4
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q23.2
Summary Summary of gene provided in NCBI Entrez 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 particula

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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

Tissue specificity

TISSUE SPECIFICITY: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. {ECO:0000269|P

Sequence

MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWG
GRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDA
LREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIE
QWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVG
NPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

Sequence length

539

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Pyridoxine-Dependent Epilepsy	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	GenCC
Osteoporosis	Osteoporosis	GWAS

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text Mining
Adrenocortical Carcinoma	Associate	35929507
Alzheimer Disease	Associate	7772058
Atherosclerosis	Associate	28476896
Brain Diseases	Associate	31990480
Brain Diseases Metabolic Inborn	Associate	25818041
CADASIL	Associate	7772058
Carcinogenesis	Associate	25213698
Carcinoma Non Small Cell Lung	Associate	23647301
Carcinoma Squamous Cell	Associate	33991070, 34044809, 37856813
Cerebrovascular Disorders	Associate	28476896, 7772058
Colonic Neoplasms	Associate	26299804
Colorectal Neoplasms	Associate	28767654
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	38604394
Death	Stimulate	29373299
Depression Postpartum	Associate	23350806
Depressive Disorder	Associate	21041613
Epilepsy	Associate	20554659, 20814824, 24942048, 25274592, 25758715, 25818041, 26224730, 26260980, 29045138, 31302938, 31652343, 31990480, 32980745, 36198807, 37540965, 38604394, 39501195 View all (2 more)
Epilepsy Benign Neonatal	Associate	31990480
Esophageal Squamous Cell Carcinoma	Associate	25213698
Genetic Diseases Inborn	Associate	25758715, 7772058
Glioblastoma	Associate	28767654
Hyperglycinemia Nonketotic	Associate	31990480
Hyperlysinemias	Associate	18717709, 39501195
Hypertension Pulmonary	Associate	16980375
Immunologic Deficiency Syndromes	Associate	20554659
Inflammation	Associate	31664853
Intellectual Disability	Associate	35715422
Kidney Neoplasms	Inhibit	30486822
Liver Failure	Associate	29373299
Lung Neoplasms	Stimulate	23647301
Mental Disorders	Associate	23350806
Metabolism Inborn Errors	Associate	34756024
Mouth Neoplasms	Associate	35613852
Muscle Hypertonia	Associate	23350806
Neoplasm Metastasis	Associate	21647815, 30486822, 35613852
Neoplasm Metastasis	Inhibit	35613852
Neoplasms	Inhibit	23647301, 30486822
Neoplasms	Associate	25213698, 27927168, 31206508, 35613852
Osteoporosis	Associate	20072603
Osteoporotic Fractures	Associate	20072603
Ovarian Neoplasms	Associate	22852552
Pituitary Neoplasms	Associate	7772058
Prostatic Neoplasms	Associate	21647815
Psychomotor Disorders	Associate	23350806
Pyridoxine dependent epilepsy	Associate	18717709, 19128417, 20887371, 23350806, 24942048, 28779752, 31302938, 31652343, 34756024, 36555701, 37540965, 37580162, 38604394
Seizures	Associate	18717709, 19128417, 20814824, 23350806, 35715422, 38604394
Spasm	Associate	37583270
Spasms Infantile	Associate	35715422, 37583270

ALDH7A1 (aldehyde dehydrogenase 7 family member A1)