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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
Location & Maps
more
  • Sequence Map
    Chr13:24907579-24937661 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30083 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 10.77 cM
  • Mapping Data
    3 experiments
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
  • Synonyms
    SSADH, SSDH
  • Links
    NCBI Gene ID: 7915
    neXtProt AC: NX_P51649

  • Chr Location
    6p22; chr6:24494969-24537207 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Aldh5a1 mouse models; 1 with human ALDH5A1 associations

Human Disease Mouse Models
       Succinic Semialdehyde Dehydrogenase Deficiency; SSADHD   OMIM: 271980 View 1 model
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
    12 phenotypes from 1 allele in 1 genetic background
    28 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.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Aldh5a1
  • Incidental Mutations
Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and early death.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000603 VEGA Gene Model | MGI Sequence Detail 30083 C57BL/6J ±  kb
transcript OTTMUST00000001200 VEGA | MGI Sequence Detail 5647 Not Applicable  
polypeptide OTTMUSP00000000561 VEGA | MGI Sequence Detail 523 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    309 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000003929 succinate-semialdehyde dehydrogenase, mitochondrial
  • EC
  • 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 domain
    IPR016161 Aldehyde/histidinol dehydrogenase
    IPR010102 Succinate semialdehyde dehydrogenase
Molecular
Reagents
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  • All nucleic 54
    cDNA 53
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGI:1917959, MGI:3701802
References
more
  • Summaries
    All 50
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 16
    Phenotypes 28
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory