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aldehyde dehydrogenase 7 family member A1

Summary

Gene Symbol

ALDH7A1

Aliases

26g turgor protein homolog
EPD
P6c dehydrogenase
PDE
alpha-AASA dehydrogenase
alpha-aminoadipic semialdehyde dehydrogenase
antiquitin 1
delta1-piperideine-6-carboxylate dehydrogenease

Organism

Homo sapiens (human)

External Links

NCBI Gene

501

HGNC

877

KEGG Gene ID

hsa:501

PubChem

501

Alliance of Genome Resources

HGNC:877

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Cytoplasm
Disease variant
Epilepsy
Mitochondrion
NAD
Nucleus
Oxidoreductase
Reference proteome
Transit peptide

Proteins

Displaying 1 entry
UniProt	Protein Name
P49419	Aldehyde dehydrogenase family 7 member A1 Antiquitin-1 Betaine aldehyde dehydrogenase Delta1-piperideine-6-carboxylate dehydrogenase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
glycine betaine biosynthetic process from choline	IEA
choline catabolic process
sensory perception of sound		9417906
cellular aldehyde metabolic process	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

ammonium ion metabolic process [inference]

choline metabolic process [inference]

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

amine metabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

choline metabolic process [inference]

organonitrogen compound catabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

catabolic process [inference]

organic substance catabolic process [inference]

organonitrogen compound catabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

organic substance biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular metabolic process [inference]

cellular aldehyde metabolic process

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

organic substance metabolic process [inference]

cellular aldehyde metabolic process

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

amine metabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

choline metabolic process [inference]

organonitrogen compound catabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

organic substance catabolic process [inference]

organonitrogen compound catabolic process [inference]

amine catabolic process [inference]

cellular biogenic amine catabolic process [inference]

choline catabolic process

organic substance biosynthetic process [inference]

organonitrogen compound biosynthetic process [inference]

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular process [inference]

cellular metabolic process [inference]

cellular aldehyde metabolic process

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular modified amino acid biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

glycine betaine metabolic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

cellular biosynthetic process [inference]

cellular nitrogen compound biosynthetic process [inference]

amino-acid betaine biosynthetic process [inference]

glycine betaine biosynthetic process [inference]

glycine betaine biosynthetic process from choline

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

Displaying **all 5** entries
GO Term	Evidence Code	PMID
nucleus	IEA
cytosol	IDA
mitochondrial matrix
mitochondrion	IDA
extracellular exosome	HDA	23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
identical protein binding	IDA	20207735

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors [inference]

oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor [inference]

aldehyde dehydrogenase [NAD(P)+] activity [inference]

aldehyde dehydrogenase (NAD+) activity

betaine-aldehyde dehydrogenase activity

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000164904

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K14085

Name

aldehyde dehydrogenase family 7 member A1 [EC:1.2.1.31 1.2.1.8 1.2.1.3]

References

20207735

Rhea

H₂O + (S)-2-amino-6-oxohexanoate + NADP⁺

H⁺ + NADPH + L-2-aminoadipate

Enzyme

1.2.1.31

PMID

H₂O + NAD⁺ + (S)-2-amino-6-oxohexanoate

H⁺ + NADH + L-2-aminoadipate

Enzyme

1.2.1.31

PMID

acetaldehyde + H₂O + NAD⁺

H⁺ + acetate + NADH

Enzyme

1.2.1.3

PMID

H₂O + an aldehyde + NAD⁺

H⁺ + a carboxylate + NADH

Enzyme

PMID

H₂O + betaine aldehyde + NAD⁺

H⁺ + glycine betaine + NADH

Enzyme

1.2.1.8

PMID

Disease

Disease Ontology

Displaying entries **91 - 100** of **240** in total

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DO ID	Disease Name	Source
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	DisGeNET
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	DisGeNET
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	DisGeNET
DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U	DisGeNET
DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M	DisGeNET
DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K	DisGeNET
DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N	DisGeNET
DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	DisGeNET
DOID:0110300	obsolete autosomal dominant limb-girdle muscular dystrophy type 1A	DisGeNET
DOID:0110301	obsolete autosomal dominant limb-girdle muscular dystrophy type 1B	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 41 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000238	Hydrocephalus
HP:0000273	Facial grimacing
HP:0000486	Strabismus
HP:0000496	Abnormality of eye movement
HP:0000711	Restlessness
HP:0000737	Irritability
HP:0000750	Delayed speech and language development
HP:0001249	Intellectual disability
HP:0001250	Seizure

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:266100	pyridoxine-dependent epilepsy caused by ALDH7A1 mutant
ORPHA:3006	pyridoxine-dependent epilepsy

PubChem Disease

GHR Health Conditions

Pyridoxine-dependent epilepsy

MedGen Diseases

Pyridoxine-dependent epilepsy

OMIM Phenotypes

EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP000347
Gene Name: aldehyde dehydrogenase 7 family, member A1

Ortholog

Displaying entries **1 - 10** of 58 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175820	WB:WBGene00000115
Drosophila melanogaster	40097	FB:FBgn0036857
Ciona intestinalis	100184485		CIOIN16027
Danio rerio	334197	ZFIN:ZDB-GENE-030131-6129	DANRE01232
Astyanax mexicanus	103034062		ASTMX08198
Ictalurus punctatus	108277325		ICTPU08819
Electrophorus electricus	113589019		ELEEL42316
Salmo salar	100194754		SALSA64526
Salmo trutta	115160058		SALTR69031
Oryzias latipes	101157525		ORYLA13056

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024