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Aldh5a1 Gene Detail
Summary
  • Symbol
    Aldh5a1
  • Name
    aldhehyde dehydrogenase family 5, subfamily A1
  • Synonyms
    6330403E24Rik, D630032B01Rik, OTTMUSG00000000613, SSADH
  • Feature Type
    protein coding gene
  • IDs
    MGI:2441982
    NCBI Gene: 214579
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:25091562-25121644 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 10.77 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1059 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2441982
 protein coding gene Chr13:25091562-25121740 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020384
 protein coding gene Chr13:22408674-22442398 (-)
A/J MGP_AJ_G0020333
 protein coding gene Chr13:21995404-22025567 (-)
AKR/J MGP_AKRJ_G0020313
 protein coding gene Chr13:22237498-22268663 (-)
BALB/cJ MGP_BALBcJ_G0020331
 protein coding gene Chr13:21974333-22004175 (-)
C3H/HeJ MGP_C3HHeJ_G0020135
 protein coding gene Chr13:22317990-22347896 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020768
 protein coding gene Chr13:23207815-23239571 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018356
 protein coding gene Chr13:20711775-20743083 (-)
CAST/EiJ MGP_CASTEiJ_G0019652
 protein coding gene Chr13:22031726-22068953 (-)
CBA/J MGP_CBAJ_G0020089
 protein coding gene Chr13:24097763-24127697 (-)
DBA/2J MGP_DBA2J_G0020215
 protein coding gene Chr13:21488260-21518554 (-)
FVB/NJ MGP_FVBNJ_G0020199
 protein coding gene Chr13:21135223-21166043 (-)
LP/J MGP_LPJ_G0020288
 protein coding gene Chr13:22705554-22735442 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020226
 protein coding gene Chr13:24345912-24379496 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020810
 protein coding gene Chr13:22088418-22121676 (-)
PWK/PhJ MGP_PWKPhJ_G0019406
 protein coding gene Chr13:21511820-21542624 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019222
 protein coding gene Chr13:20918749-20952654 (-)
WSB/EiJ MGP_WSBEiJ_G0019712
 protein coding gene Chr13:22255289-22287966 (-)



Homology
more
  • Human Ortholog
    ALDH5A1, aldehyde dehydrogenase 5 family member A1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALDH5A1, aldehyde dehydrogenase 5 family member A1
  • Synonyms
    SSADH, SSDH
  • Links
    NCBI Gene ID: 7915
    neXtProt AC: NX_P51649
    UniProt: P51649

  • Chr Location
    6p22.3; chr6:24494867-24537207 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Aldh5a1 mouse models; 1 with human ALDH5A1 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
    14 phenotypes from 1 allele in 1 genetic background
    33 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.
Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    16
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
    706
  • cDNA Data
    53
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035936 Ensembl Gene Model | MGI Sequence Detail 30083 C57BL/6J ±  kb
    transcript ENSMUST00000037615 Ensembl | MGI Sequence Detail 5647 Not Applicable  
    polypeptide ENSMUSP00000040591 Ensembl | MGI Sequence Detail 523 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000003929 succinate-semialdehyde dehydrogenase, mitochondrial
      (term hierarchy)
    • EC
      1.2.1.24
    • InterPro Domains
      IPR016163 Aldehyde dehydrogenase, C-terminal
      IPR016160 Aldehyde dehydrogenase, cysteine active site
      IPR015590 Aldehyde dehydrogenase domain
      IPR029510 Aldehyde dehydrogenase, glutamic acid active site
      IPR016162 Aldehyde dehydrogenase, N-terminal
      IPR050740 Aldehyde Dehydrogenase Superfamily
      IPR016161 Aldehyde/histidinol dehydrogenase
      IPR010102 Succinate semialdehyde dehydrogenase
    • GlyGen
      Q8BWF0 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 55
      cDNA 54
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1917959, MGI:3701802
    References
    more
    • Summaries
      All 69
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 16
      Phenotypes 33
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:353880 Andersen JV, et al., Deficient brain GABA metabolism leads to widespread impairments of astrocyte and oligodendrocyte function. Glia. 2024 Oct;72(10):1821-1839
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory