ALDH7A1 (aldehyde dehydrogenase 7 family member A1)

2007-04-01  

Identity

HGNC
LOCATION
5q23.2
LOCUSID
ALIAS
ATQ1,EPD,PDE
FUSION GENES

Other Information

Locus ID:

NCBI: 501
MIM: 107323
HGNC: 877
Ensembl: ENSG00000164904

Variants:

dbSNP: 501
ClinVar: 501
TCGA: ENSG00000164904
COSMIC: ALDH7A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164904ENST00000409134P49419
ENSG00000164904ENST00000412186F8WDY6
ENSG00000164904ENST00000413020A0A0J9YWF7
ENSG00000164904ENST00000458249F8WD33
ENSG00000164904ENST00000503281A0A0J9YWM6
ENSG00000164904ENST00000509270F8VVF2
ENSG00000164904ENST00000509459A0A0J9YWK1
ENSG00000164904ENST00000510111H0YHM6
ENSG00000164904ENST00000553117P49419
ENSG00000164904ENST00000635851A0A1B0GW82
ENSG00000164904ENST00000636225A0A1B0GW65
ENSG00000164904ENST00000636743A0A1B0GTJ4
ENSG00000164904ENST00000636808A0A1B0GW65
ENSG00000164904ENST00000636872F8WD33
ENSG00000164904ENST00000636879A0A1B0GW77
ENSG00000164904ENST00000636886A0A1B0GV49
ENSG00000164904ENST00000637206A0A1B0GTY9
ENSG00000164904ENST00000637272A0A1B0GTG2
ENSG00000164904ENST00000637292A0A1B0GVU0
ENSG00000164904ENST00000637782A0A1B0GUA1
ENSG00000164904ENST00000637964A0A1B0GUY0
ENSG00000164904ENST00000638008A0A1B0GW65

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Glycolysis / GluconeogenesisKEGGko00010
Ascorbate and aldarate metabolismKEGGko00053
Fatty acid degradationKEGGko00071
Glycine, serine and threonine metabolismKEGGko00260
Valine, leucine and isoleucine degradationKEGGko00280
Lysine biosynthesisKEGGko00300
Lysine degradationKEGGko00310
Arginine and proline metabolismKEGGko00330
Histidine metabolismKEGGko00340
Tryptophan metabolismKEGGko00380
beta-Alanine metabolismKEGGko00410
Glycerolipid metabolismKEGGko00561
Pyruvate metabolismKEGGko00620
Glycolysis / GluconeogenesisKEGGhsa00010
Ascorbate and aldarate metabolismKEGGhsa00053
Fatty acid degradationKEGGhsa00071
Glycine, serine and threonine metabolismKEGGhsa00260
Valine, leucine and isoleucine degradationKEGGhsa00280
Lysine biosynthesisKEGGhsa00300
Lysine degradationKEGGhsa00310
Arginine and proline metabolismKEGGhsa00330
Histidine metabolismKEGGhsa00340
Tryptophan metabolismKEGGhsa00380
beta-Alanine metabolismKEGGhsa00410
Glycerolipid metabolismKEGGhsa00561
Pyruvate metabolismKEGGhsa00620
Metabolic pathwaysKEGGhsa01100
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGhsa_M00032
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGhsa_M00135
Lysine degradation, lysine => saccharopine => acetoacetyl-CoAKEGGM00032
GABA biosynthesis, eukaryotes, putrescine => GABAKEGGM00135
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Lysine catabolismREACTOMER-HSA-71064
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656
Choline catabolismREACTOMER-HSA-6798163

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
164910852006Mutations in antiquitin in individuals with pyridoxine-dependent seizures.94
202077352010Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress.62
200726032010Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.44
200726032010Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.44
216478152011The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.38
206391222010Protein oxidation in Huntington disease affects energy production and vitamin B6 metabolism.23
213385922011Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.21
290616472017Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.20
191284172009Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

ALDH7A1 (aldehyde dehydrogenase 7 family member A1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47402/aldh7a1