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Aass Gene Detail
Summary
  • Symbol
    Aass
  • Name
    aminoadipate-semialdehyde synthase
  • Synonyms
    Lorsdh, LOR/SDH
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353573
    NCBI Gene: 30956
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:23072172-23132985 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 10.27 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2050 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1353573
 protein coding gene Chr6:23072172-23132985 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030486
 protein coding gene Chr6:20579095-20648441 (-)
A/J MGP_AJ_G0030459
 protein coding gene Chr6:19741366-19802284 (-)
AKR/J MGP_AKRJ_G0030386
 protein coding gene Chr6:20387282-20458990 (-)
BALB/cJ MGP_BALBcJ_G0030469
 protein coding gene Chr6:19837701-19898839 (-)
C3H/HeJ MGP_C3HHeJ_G0030182
 protein coding gene Chr6:20346310-20411034 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030923
 protein coding gene Chr6:21234359-21298868 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028134
 protein coding gene Chr6:18313630-18366729 (-)
CAST/EiJ MGP_CASTEiJ_G0029584
 protein coding gene Chr6:20262972-20331254 (-)
CBA/J MGP_CBAJ_G0030160
 protein coding gene Chr6:21962523-22025848 (-)
DBA/2J MGP_DBA2J_G0030304
 protein coding gene Chr6:19666129-19732739 (-)
FVB/NJ MGP_FVBNJ_G0030258
 protein coding gene Chr6:19446177-19508216 (-)
LP/J MGP_LPJ_G0030391
 protein coding gene Chr6:20724768-20789505 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030294
 protein coding gene Chr6:23797467-23878129 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030953
 protein coding gene Chr6:20344377-20412620 (-)
PWK/PhJ MGP_PWKPhJ_G0029298
 protein coding gene Chr6:19284672-19345711 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029134
 protein coding gene Chr6:20057327-20129657 (-)
WSB/EiJ MGP_WSBEiJ_G0029660
 protein coding gene Chr6:20246357-20312759 (-)



Homology
more
  • Human Ortholog
    AASS, aminoadipate-semialdehyde synthase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AASS, aminoadipate-semialdehyde synthase
  • Synonyms
    LKR/SDH, LKRSDH, LORSDH
  • Links
    NCBI Gene ID: 10157
    neXtProt AC: NX_Q9UDR5
    UniProt: Q9UDR5

  • Chr Location
    7q31.32; chr7:122064583-122144308 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AASS associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    9 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    14
  • GO References
    4
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
non-membrane-bounded 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
    821
  • Tissues
    113
  • cDNA Data
    63
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 30956 NCBI Gene Model | MGI Sequence Detail 60814 C57BL/6J ±  kb
    transcript NM_013930 RefSeq | MGI Sequence Detail 3701 ZRU/MplStud  
    polypeptide Q99K67 UniProt | EBI | MGI Sequence Detail 926 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000003532 alpha-aminoadipic semialdehyde synthase, mitochondrial
      (term hierarchy)
    • EC
      1.5.1.8, 1.5.1.9
    • InterPro Domains
      IPR007698 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, NAD(H)-binding domain
      IPR007886 Alanine dehydrogenase/pyridine nucleotide transhydrogenase, N-terminal
      IPR051168 Alpha-aminoadipic semialdehyde synthase
      IPR036291 NAD(P)-binding domain superfamily
      IPR032095 Saccharopine dehydrogenase-like, C-terminal
      IPR005097 Saccharopine dehydrogenase, NADP binding domain
    • GlyGen
      Q99K67 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 66
      cDNA 63
      Primer pair 2
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 4
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:59042 Papes F, et al., Lysine degradation through the saccharopine pathway in mammals: involvement of both bifunctional and monofunctional lysine-degrading enzymes in mouse. Biochem J. 1999 Dec 1;344 Pt 2:555-63
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    10/29/2024
    MGI 6.24     		The Jackson Laboratory