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

Gene ID: 501, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See ALDH7A1 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901056 Neighboring gene uncharacterized LOC101927488 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:125695125-125696324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:125703101-125703842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:125703843-125704583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:125706699-125707223 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:125707224-125707747 Neighboring gene uncharacterized LOC101927514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16281 Neighboring gene GRAM domain containing 2B Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:125780518-125781717 Neighboring gene NANOG hESC enhancer GRCh37_chr5:125828434-125828989 Neighboring gene Sharpr-MPRA regulatory region 10286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23023 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:125886595-125886696 Neighboring gene uncharacterized LOC124901189 Neighboring gene MPRA-validated peak5455 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:125903752-125904497 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:125933215-125933378 Neighboring gene hESC enhancers GRCh37_chr5:125935721-125936570 and GRCh37_chr5:125936571-125937418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:125937419-125938267 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:125954191-125954723 Neighboring gene MPRA-validated peak5456 silencer Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 7 Neighboring gene phosphorylated adaptor for RNA export

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Mefford HC, et al. Neurology, 2015 Sep 1. PMID 26224730, Free PMC Article
  2. Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function. Korasick DA, et al. Biochimie, 2021 Apr. PMID 32956737, Free PMC Article
  3. Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy. Coulter-Mackie MB, et al. Mol Genet Metab, 2012 Aug. PMID 22784480
  4. Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy. Tlili A, et al. Mol Biol Rep, 2013 Jan. PMID 23054014
  5. Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene. Tlili A, et al. Gene, 2013 Apr 15. PMID 23376216

See all (118) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. The impact of ALDH7A1 variants in oral cancer development and prognosis.
    Title: The impact of ALDH7A1 variants in oral cancer development and prognosis.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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
not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ11738, FLJ92814

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 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 PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP 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
NP_001188306.1
NP_001189333.2

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

  1. NG_008600.3 RefSeqGene

    Range
    5172..58550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    126541841..126595219 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    127058709..127112081 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P49419.5 GenPept UniProtKB/Swiss-Prot:P49419

Gene LinkOut

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