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Aasdhppt Gene Detail
Summary
  • Symbol
    Aasdhppt
  • Name
    aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
  • Synonyms
    2010309J24Rik, 2810407B07Rik, AASD-PPT, CGI-80, LYS2, LYS5
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914868
    NCBI Gene: 67618
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:4294793-4309471 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 2.46 cM, cytoband A1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    335 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914868
 protein coding gene Chr9:4294793-4309656 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034308
 protein coding gene Chr9:1007094-1022752 (-)
A/J MGP_AJ_G0034285
 protein coding gene Chr9:1170388-1185215 (-)
AKR/J MGP_AKRJ_G0034215
 protein coding gene Chr9:1027131-1041835 (-)
BALB/cJ MGP_BALBcJ_G0034279
 protein coding gene Chr9:966988-982555 (-)
C3H/HeJ MGP_C3HHeJ_G0033991
 protein coding gene Chr9:1188152-1204186 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034801
 protein coding gene Chr9:1132293-1146777 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031739
 protein coding gene Chr9:788475-803649 (-)
CAST/EiJ MGP_CASTEiJ_G0033318
 protein coding gene Chr9:1255611-1269794 (-)
CBA/J MGP_CBAJ_G0033963
 protein coding gene Chr9:1065106-1082398 (-)
DBA/2J MGP_DBA2J_G0034120
 protein coding gene Chr9:1128548-1143309 (-)
FVB/NJ MGP_FVBNJ_G0034065
 protein coding gene Chr9:965346-985602 (-)
LP/J MGP_LPJ_G0034207
 protein coding gene Chr9:1045933-1068312 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034109
 protein coding gene Chr9:1419159-1436504 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034820
 protein coding gene Chr9:1000840-1021178 (-)
PWK/PhJ MGP_PWKPhJ_G0033022
 protein coding gene Chr9:1268642-1282956 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032859
 protein coding gene Chr9:1291123-1305325 (-)
WSB/EiJ MGP_WSBEiJ_G0033434
 protein coding gene Chr9:1036214-1054728 (-)



Homology
more
  • Human Ortholog
    AASDHPPT, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AASDHPPT, aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
  • Synonyms
    AASD-PPT, ACPS, CGI-80, LYS2, LYS5
  • Links
    NCBI Gene ID: 60496
    neXtProt AC: NX_Q9NRN7
    UniProt: Q9NRN7

  • Chr Location
    11q22.3; chr11:106075501-106098699 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 1 allele in 1 genetic background
    1 images
    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.
Mice homozygous for a knock-out allele show normal blastocyst formation but exhibit complete embryonic lethality by E7.5.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • 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
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
    819
  • Tissues
    112
  • cDNA Data
    62
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025894 Ensembl Gene Model | MGI Sequence Detail 14679 C57BL/6J ±  kb
    transcript ENSMUST00000051589 Ensembl | MGI Sequence Detail 2843 Not Applicable  
    polypeptide ENSMUSP00000053971 Ensembl | MGI Sequence Detail 309 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000003531 L-aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
      (term hierarchy)
    • EC
      2.7.8.7
    • InterPro Domains
      IPR008278 4'-phosphopantetheinyl transferase domain
      IPR037143 4'-phosphopantetheinyl transferase domain superfamily
      IPR050559 Phosphopantetheinyl Transferase Superfamily
    Molecular
    Reagents
    less
    • All nucleic 63
      cDNA 62
      Primer pair 1

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1919380
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 3
      Gene Ontology 4
      Phenotypes 9
    • 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: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)
    Citing These Resources
    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