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

    Gene ID: 501, updated on 5-Mar-2024

    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
    NEW
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    Genomic context

    See ALDH7A1 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (126541841..126595219, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (127058709..127112081, complement)
    105.20220307 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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Pyridoxine-dependent epilepsy Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11738, FLJ92814

    Gene Ontology Provided by GOA

    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
     
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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_001182.5NP_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
      B2R669, B4DIC7, B4DMA0, E7EPT3, O14619, P49419, Q6IPU8, Q9BUL4
      UniProtKB/TrEMBL
      A0A1B0GTG2
      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/TrEMBL
      A0A384MDZ8
      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/TrEMBL
      A0A1B0GTY9
      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: GCF_000001405.40-RS_2023_10

    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)