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

Gene ID: 501, updated on 28-Nov-2014
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; HPRD:00124; MIM:107323; Vega:OTTHUMG00000128942
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]
See ALDH7A1 in Epigenomics, MapViewer
Location:
5q31
Exon count:
18
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (126541841..126595390, 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 uncharacterized LOC101927514 Neighboring gene GRAM domain containing 3 Neighboring gene phosphorylated adaptor for RNA export Neighboring gene ribosomal protein, large, P1 pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11738, FLJ92814

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-aminoadipate-semialdehyde dehydrogenase activity EXP
Inferred from Experiment
more info
 
aldehyde dehydrogenase (NAD) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
betaine-aldehyde dehydrogenase 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
 
cellular nitrogen compound metabolic 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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
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
 
Preferred Names
alpha-aminoadipic semialdehyde dehydrogenase
Names
alpha-aminoadipic semialdehyde dehydrogenase
antiquitin-1
P6c dehydrogenase
alpha-AASA dehydrogenase
26g turgor protein homolog
betaine aldehyde dehydrogenase
delta1-piperideine-6-carboxylate dehydrogenase
NP_001173.2
NP_001188306.1
NP_001189333.1

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 

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

mRNA and Protein(s)

  1. NM_001182.4NP_001173.2  alpha-aminoadipic semialdehyde dehydrogenase isoform 1 precursor

    See proteins identical to 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, AI039375, AK021800, AK123774, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
    Consensus CDS
    CCDS4137.2
    UniProtKB/Swiss-Prot
    P49419
    Related
    ENSP00000387123, OTTHUMP00000159189, ENST00000409134, OTTHUMT00000250921
    Conserved Domains (1) summary
    cd07130
    Location:53527
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B
  2. NM_001201377.1NP_001188306.1  alpha-aminoadipic semialdehyde dehydrogenase isoform 2

    See proteins identical to 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, AI039375, AK021800, AK123774, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
    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_001202404.1NP_001189333.1  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, AI039375, AK021800, AK123774, AK297365, BC071712, BG680326, BU153725, CD678674, DB501575, DC375277
    Consensus CDS
    CCDS56380.1
    UniProtKB/Swiss-Prot
    P49419
    Related
    ENSP00000414132, ENST00000447989
    Conserved Domains (1) summary
    cd07130
    Location:80490
    ALDH_F7_AASADH; NAD+-dependent alpha-aminoadipic semialdehyde dehydrogenase, ALDH family members 7A1 and 7B

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    126541841..126595390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    125309919..125363679
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    121068235..121122325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)