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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:24907579-24937661 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 10.77 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    309 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 Chr13:24907579-24937661 (-)
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
    10
  • Human Ortholog
    ALDH5A1, aldehyde dehydrogenase 5 family member A1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    SSADH, SSDH
  • Links
    NCBI Gene ID: 7915
    neXtProt AC: NX_P51649
    UniProt: P51649

  • Chr Location
    6p22.3; chr6:24494969-24537207 (+)  GRCh38.p7

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
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  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    31 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 214579 NCBI Gene Model | MGI Sequence Detail 30083 C57BL/6J ±  kb
transcript NM_172532 RefSeq | MGI Sequence Detail 5647 C57BL/6  
polypeptide Q8BWF0 UniProt | EBI | MGI Sequence Detail 523 Not Applicable  
For the selected sequence
Protein
Information
less
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 64
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 17
    Phenotypes 31
  • Earliest
    J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
  • Latest
    J:255676 Vogel KR, et al., Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. Biochim Biophys Acta. 2017 Jan;1863(1):33-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory