ALDH7A1 aldehyde dehydrogenase 7 family member A1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALDH7A1provided by HGNC
Official Full Name: aldehyde dehydrogenase 7 family member A1provided by HGNC
Primary source: HGNC:HGNC:877
See related: Ensembl:ENSG00000164904 MIM:107323; AllianceGenome:HGNC:877
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPD; PDE; ATQ1; EPEO4
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]
Expression: Ubiquitous expression in kidney (RPKM 27.7), liver (RPKM 24.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.2

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (126541841..126595219, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (127058709..127112081, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (125877533..125930911, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
Title: Biochemical, structural, and computational analyses of two new clinically identified missense mutations of ALDH7A1.
The impact of ALDH7A1 variants in oral cancer development and prognosis.
Title: The impact of ALDH7A1 variants in oral cancer development and prognosis.
EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Title: EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Title: Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Title: Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Title: Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
The study provides first evidence that the saccharopine pathway is the major route of lysine degradation in cultured human brain cells. These results support inhibition of the saccharopine pathway as a new treatment option for antiquitin deficiency.
Title: New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
This report provides a comprehensive overview of known ALDH7A1 mutations that cause pyridoxine dependent epilepsy (PDE), and suggests that PDE may be more common than initially estimated. [review]
Title: The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Data show that NADH generated by aldehyde dehydrogenase 7 family, member A1 protein (ALDH7A1) targets brefeldin-A ADP-ribosylated substrate (BARS; CTBP1) to inhibit Coat Protein I (COPI) vesicle fission.
Title: ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis.
Results suggest the NAD+ cofactor of aldehyde dehydrogenase 7 family member A1 protein (ALDH7A1) dramatically enhances tetramerization of the enzyme.
Title: NAD(+) promotes assembly of the active tetramer of aldehyde dehydrogenase 7A1.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Pyridoxine-dependent epilepsy MedGen: C1849508 OMIM: 266100 GeneReviews: Pyridoxine-Dependent Epilepsy - ALDH7A1	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5S2646 (e-PCR)
- UniSTS:79617

D5S1972 (e-PCR)
- UniSTS:64260

D11S2921 (e-PCR)
- UniSTS:152074

RH78357 (e-PCR)
- UniSTS:74569

D17S1239 (e-PCR)
- UniSTS:149852

RH65314 (e-PCR)
- UniSTS:76649

RH47147 (e-PCR)
- UniSTS:42895

SGC30136 (e-PCR)
- UniSTS:70814

D5S1933 (e-PCR)
- UniSTS:46255

D5S2464 (e-PCR)
- UniSTS:40371

D5S2596 (e-PCR)
- UniSTS:50356

AFMa128xh5 (e-PCR)
- UniSTS:29893

D5S2017 (e-PCR)
- UniSTS:45019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-aminoadipate-semialdehyde dehydrogenase activity	IEA Inferred from Electronic Annotation more info
enables aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables aldehyde dehydrogenase (NAD+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables betaine-aldehyde dehydrogenase (NAD+) activity	IDA Inferred from Direct Assay more info	PubMed
enables betaine-aldehyde dehydrogenase (NAD+) activity	TAS Traceable Author Statement more info
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular aldehyde metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in choline catabolic process	TAS Traceable Author Statement more info
involved_in glycine betaine biosynthetic process from choline	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of sound	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-aminoadipic semialdehyde dehydrogenase

Names: 26g turgor protein homolog; P6c dehydrogenase; alpha-AASA dehydrogenase; antiquitin-1; betaine aldehyde dehydrogenase; delta1-piperideine-6-carboxylate dehydrogenase; epididymis secretory sperm binding protein

NP_001173.2

EC 1.2.1.3

EC 1.2.1.31

EC 1.2.1.8

NP_001188306.1

EC 1.2.1.3

EC 1.2.1.31

EC 1.2.1.8

NP_001189333.2

EC 1.2.1.3

EC 1.2.1.31

EC 1.2.1.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008600.3 RefSeqGene

Range

5172..58550

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001182.5 → NP_001173.2 alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor

See identical proteins and their annotated locations for NP_001173.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternative in-frame translation initiation codons. The longer isoform (1) is derived from an upstream AUG (at nt 193-195), while the shorter isoform (2) is derived from a downstream AUG (at nt 277-279). This RefSeq represents the longer isoform, which resides in the mitochondria (PMIDs: 20207735 and 19885858).

Source sequence(s)

AC093535, AC099513

Consensus CDS

CCDS4137.2

UniProtKB/Swiss-Prot

B2R669, B4DIC7, B4DMA0, E7EPT3, O14619, P49419, Q6IPU8, Q9BUL4

UniProtKB/TrEMBL

A0A1B0GTG2

Related

ENSP00000387123.3, ENST00000409134.8

Conserved Domains (1) summary

cd07130
Location:53 → 527

ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
NM_001201377.2 → NP_001188306.1 alpha-aminoadipic semialdehyde dehydrogenase isoform 2

See identical proteins and their annotated locations for NP_001188306.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes two isoforms resulting from the use of alternative in-frame translation initiation codons. The longer isoform (1) is derived from an upstream AUG (at nt 193-195), while the shorter isoform (2) is derived from a downstream AUG (at nt 277-279). This RefSeq represents the shorter isoform, which is found in the cytosol (PMIDs: 20207735 and 19885858).

Source sequence(s)

AC093535, AC099513

UniProtKB/TrEMBL

A0A384MDZ8

Conserved Domains (1) summary

cd07130
Location:25 → 499

ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
NM_001202404.2 → NP_001189333.2 alpha-aminoadipic semialdehyde dehydrogenase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (2) is missing two in-frame coding exons compared to variant 1, resulting in a shorter isoform (3) lacking an internal protein segment compared to isoform 1.

Source sequence(s)

AC093535, AC099513

Consensus CDS

CCDS56380.2

UniProtKB/TrEMBL

A0A1B0GTY9

Related

ENSP00000448593.1, ENST00000553117.5

Conserved Domains (1) summary

cd07130
Location:53 → 463

ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B