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Ass1 Gene Detail
Summary
  • Symbol
    Ass1
  • Name
    argininosuccinate synthetase 1
  • Synonyms
    ASS, Ass-1, fold
  • Feature Type
    protein coding gene
  • IDs
    MGI:88090
    NCBI Gene: 11898
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:31360282-31410682 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 21.81 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1221 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    5
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88090
 protein coding gene Chr2:31360219-31410684 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025585
 protein coding gene Chr2:29792135-29864562 (+)
A/J MGP_AJ_G0025563
 protein coding gene Chr2:28587195-28637640 (+)
AKR/J MGP_AKRJ_G0025532
 protein coding gene Chr2:29556581-29608488 (+)
BALB/cJ MGP_BALBcJ_G0025559
 protein coding gene Chr2:28716743-28768185 (+)
C3H/HeJ MGP_C3HHeJ_G0025320
 protein coding gene Chr2:29484276-29540191 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026004
 protein coding gene Chr2:30753059-30810290 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023412
 protein coding gene Chr2:27346802-27397657 (+)
CAST/EiJ MGP_CASTEiJ_G0024782
 protein coding gene Chr2:29420050-29481324 (+)
CBA/J MGP_CBAJ_G0025297
 protein coding gene Chr2:31852198-31913891 (+)
DBA/2J MGP_DBA2J_G0025430
 protein coding gene Chr2:28359497-28412206 (+)
FVB/NJ MGP_FVBNJ_G0025393
 protein coding gene Chr2:28213110-28269656 (+)
LP/J MGP_LPJ_G0025516
 protein coding gene Chr2:29699863-29760848 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025423
 protein coding gene Chr2:31610402-31672475 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026062
 protein coding gene Chr2:29473683-29532990 (+)
PWK/PhJ MGP_PWKPhJ_G0024529
 protein coding gene Chr2:28249880-28306412 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024329
 protein coding gene Chr2:29619753-29681300 (+)
WSB/EiJ MGP_WSBEiJ_G0024850
 protein coding gene Chr2:29647632-29703112 (+)



Homology
more
  • Human Ortholog
    ASS1, argininosuccinate synthase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ASS1, argininosuccinate synthase 1
  • Synonyms
    ASS, CTLN1
  • Links
    NCBI Gene ID: 445
    neXtProt AC: NX_P00966
    UniProt: P00966

  • Chr Location
    9q34.11; chr9:130444707-130501274 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ass1 mouse models; 4 with human ASS1 associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    40 phenotypes from 5 alleles in 9 genetic backgrounds
    3 images
    23 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.
Targeted disruption of this gene results in high levels of blood citrulline, hyperammonemia, and death by 24 hours after birth. Some spontaneous mutations display wrinkled skin, sparse hair with delayed hair appearance and abnormal hair follicle morphology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    79
  • GO References
    12
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
    862
  • Tissues
    155
  • cDNA Data
    10
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11898 NCBI Gene Model | MGI Sequence Detail 50401 C57BL/6J ±  kb
    transcript NM_007494 RefSeq | MGI Sequence Detail 1631 ZRU/MplStud  
    polypeptide P16460 UniProt | EBI | MGI Sequence Detail 412 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004386 argininosuccinate synthase
      (term hierarchy)
    • EC
      6.3.4.5
    • InterPro Domains
      IPR001518 Argininosuccinate synthase
      IPR018223 Argininosuccinate synthase, conserved site
      IPR023434 Argininosuccinate synthase, type 1 subfamily
      IPR024074 Argininosuccinate synthetase, catalytic/multimerisation domain body
      IPR048268 Arginosuccinate synthase C-terminal domain
      IPR048267 Arginosuccinate synthase-like, N-terminal domain
      IPR014729 Rossmann-like alpha/beta/alpha sandwich fold
    • GlyGen
      P16460 2 sites, 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 8
      cDNA 12
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1430, MGD-MRK-1433, MGI:2143462, MGI:3665141
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 9
      Diseases 2
      Gene Ontology 12
      Phenotypes 23
    • Earliest
      J:4829 Nakamura D, et al., Comparison of the arginosuccinate synthetase gene family in mouse and man. Cytogenet Cell Genet. 1985;40:710 (Abstr.)
    • Latest
      J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
    12/17/2024
    MGI 6.24     		The Jackson Laboratory