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Aldh7a1 Gene Detail
Summary
  • Symbol
    Aldh7a1
  • Name
    aldehyde dehydrogenase family 7, member A1
  • Synonyms
    Atq1, D18Wsu181e
  • Feature Type
    protein coding gene
  • IDs
    MGI:108186
    NCBI Gene: 110695
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:56657794-56706112 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 30.55 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1756 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108186
 protein coding gene Chr18:56642759-56706112 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024441
 protein coding gene Chr18:55870564-55943650 (-)
A/J MGP_AJ_G0024407
 protein coding gene Chr18:53666050-53733632 (-)
AKR/J MGP_AKRJ_G0024377
 protein coding gene Chr18:55128538-55201784 (-)
BALB/cJ MGP_BALBcJ_G0024407
 protein coding gene Chr18:53850842-53915828 (-)
C3H/HeJ MGP_C3HHeJ_G0024174
 protein coding gene Chr18:55357752-55423721 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024853
 protein coding gene Chr18:57645397-57711599 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022285
 protein coding gene Chr18:53303444-53370561 (-)
CAST/EiJ MGP_CASTEiJ_G0023648
 protein coding gene Chr18:55369218-55443956 (-)
CBA/J MGP_CBAJ_G0024144
 protein coding gene Chr18:59450021-59519127 (-)
DBA/2J MGP_DBA2J_G0024274
 protein coding gene Chr18:53366422-53430298 (-)
FVB/NJ MGP_FVBNJ_G0024241
 protein coding gene Chr18:52752510-52817762 (-)
LP/J MGP_LPJ_G0024359
 protein coding gene Chr18:55841490-55905698 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024271
 protein coding gene Chr18:61127728-61198595 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024900
 protein coding gene Chr18:55252984-55320167 (-)
PWK/PhJ MGP_PWKPhJ_G0023392
 protein coding gene Chr18:53377269-53445251 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023198
 protein coding gene Chr18:55337558-55400511 (-)
WSB/EiJ MGP_WSBEiJ_G0023711
 protein coding gene Chr18:55175333-55241911 (-)



Homology
more
  • Human Ortholog
    ALDH7A1, aldehyde dehydrogenase 7 family member A1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH7A1, aldehyde dehydrogenase 7 family member A1
  • Synonyms
    ATQ1, EPD, EPEO4, PDE
  • Links
    NCBI Gene ID: 501
    neXtProt AC: NX_P49419
    UniProt: P49419

  • Chr Location
    5q23.2; chr5:126531200-126595362 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aldh7a1 mouse models; 1 with human ALDH7A1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    16 phenotypes from 2 alleles in 3 genetic backgrounds
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Normal phenotype is seen in one allele that disrupts the gene. Another knock-out allele shows high levels of upstream lysine metabolites in the brain and liver, abnormal amino acid metabolism, increased oxidative stress, and high lysine/low pyridoxine diet-induced seizures.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    997
  • Tissues
    169
  • cDNA Data
    205
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 110695 NCBI Gene Model | MGI Sequence Detail 48319 C57BL/6J ±  kb
    transcript NM_001127338 RefSeq | MGI Sequence Detail 3105 ZRU/MplStud  
    polypeptide Q9DBF1 UniProt | EBI | MGI Sequence Detail 539 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 210
      cDNA 206
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-36424, MGD-MRK-37225, MGI:107847
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 8
      Phenotypes 10
    • Earliest
      J:4717 Gill RK, et al., Identification of sequence elements in mouse calbindin-D28k gene that confer 1,25-dihydroxyvitamin D3- and butyrate-inducible responses. Proc Natl Acad Sci U S A. 1993 Apr 1;90(7):2984-8
    • Latest
      J:348972 Yan J, et al., Disrupted de novo pyrimidine biosynthesis impairs adult hippocampal neurogenesis and cognition in pyridoxine-dependent epilepsy. Sci Adv. 2024 Apr 5;10(14):eadl2764
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory