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

Gene ID: 501, updated on 17-Jun-2019

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
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
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

Genomic context

See ALDH7A1 in Genome Data Viewer
Location:
5q23.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (126541841..126595219, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (125877533..125931104, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927488 Neighboring gene GRAM domain containing 2B Neighboring gene uncharacterized LOC101927514 Neighboring gene Sharpr-MPRA regulatory region 10286 Neighboring gene phosphorylated adaptor for RNA export Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Pyridoxine-dependent epilepsy
MedGen: C1849508 OMIM: 266100 GeneReviews: Pyridoxine-Dependent Epilepsy
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NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11738, FLJ92814

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aminoadipate-semialdehyde dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
 
aldehyde dehydrogenase (NAD) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
betaine-aldehyde dehydrogenase activity TAS
Traceable Author Statement
more info
 
glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular aldehyde metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
choline catabolic process TAS
Traceable Author Statement
more info
 
glycine betaine biosynthetic process from choline IEA
Inferred from Electronic Annotation
more info
 
lysine catabolic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_008600.2 RefSeqGene

    Range
    5001..58550
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001182.5NP_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
    P49419
    Related
    ENSP00000387123.3, ENST00000409134.8
    Conserved Domains (1) summary
    cd07130
    Location:53527
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
  2. NM_001201377.2NP_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/Swiss-Prot
    P49419
    Conserved Domains (1) summary
    cd07130
    Location:25499
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
  3. NM_001202404.2NP_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/Swiss-Prot
    P49419
    Related
    ENSP00000448593.1, ENST00000553117.5
    Conserved Domains (1) summary
    cd07130
    Location:53463
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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