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Otc Gene Detail
Summary
  • Symbol
    Otc
  • Name
    ornithine transcarbamylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:97448
    NCBI Gene: 18416
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:10118584-10187275 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 4.66 cM, cytoband A1
  • Mapping Data
    48 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1375 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97448
 protein coding gene ChrX:10118544-10187275 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035563
 protein coding gene ChrX:5000006-5071096 (+)
A/J MGP_AJ_G0035540
 protein coding gene ChrX:5110833-5179974 (+)
AKR/J MGP_AKRJ_G0035472
 protein coding gene ChrX:5179480-5250913 (+)
BALB/cJ MGP_BALBcJ_G0035533
 protein coding gene ChrX:5012091-5082714 (+)
C3H/HeJ MGP_C3HHeJ_G0035250
 protein coding gene ChrX:5130215-5199796 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036063
 protein coding gene ChrX:5082746-5158956 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032932
 protein coding gene ChrX:4184015-4248426 (+)
CAST/EiJ MGP_CASTEiJ_G0034542
 protein coding gene ChrX:4826735-4900463 (+)
CBA/J MGP_CBAJ_G0035219
 protein coding gene ChrX:5479859-5555078 (+)
DBA/2J MGP_DBA2J_G0035372
 protein coding gene ChrX:5016145-5084909 (+)
FVB/NJ MGP_FVBNJ_G0035319
 protein coding gene ChrX:4855228-4922470 (+)
LP/J MGP_LPJ_G0035454
 protein coding gene ChrX:5202286-5277625 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035362
 protein coding gene ChrX:5374540-5447979 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036075
 protein coding gene ChrX:4924488-4996596 (+)
PWK/PhJ MGP_PWKPhJ_G0034243
 protein coding gene ChrX:4513647-4583997 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034084
 protein coding gene ChrX:4996086-5069566 (+)
WSB/EiJ MGP_WSBEiJ_G0034678
 protein coding gene ChrX:5000982-5072735 (+)



Homology
more
  • Human Ortholog
    OTC, ornithine transcarbamylase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OTC, ornithine transcarbamylase
  • Synonyms
    OCTD, OTC1, OTCase, OTCD
  • Links
    NCBI Gene ID: 5009
    neXtProt AC: NX_P00480
    UniProt: P00480

  • Chr Location
    Xp11.4; chrX:38327598-38422928 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Otc mouse models; 1 with human OTC associations

Human Disease Mouse Models
      
IDs
 View 8 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    65 phenotypes from 5 alleles in 8 genetic backgrounds
    27 phenotypes from multigenic genotypes
    2 images
    75 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.
Hemizygous males and homozygous females for spontaneous mutations exhibit small size, paucity of hair, wrinkled skin, orotic acidurea with bladder stones, hyperammonemia, reduced plasma arginine and citrulline, and loss of brain cholinergic neurons.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    43
  • GO References
    13
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
    846
  • Tissues
    105
  • cDNA Data
    49
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18416 NCBI Gene Model | MGI Sequence Detail 68692 C57BL/6J ±  kb
    transcript NM_001411675 RefSeq | MGI Sequence Detail 3019 ZRU/MplStud  
    polypeptide P11725 UniProt | EBI | MGI Sequence Detail 354 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000012070 ornithine transcarbamylase, mitochondrial
      (term hierarchy)
    • EC
      2.1.3.3
    • InterPro Domains
      IPR006130 Aspartate/ornithine carbamoyltransferase
      IPR006131 Aspartate/ornithine carbamoyltransferase, Asp/Orn-binding domain
      IPR006132 Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding
      IPR036901 Aspartate/ornithine carbamoyltransferase superfamily
      IPR002292 Ornithine/putrescine carbamoyltransferase
    • GlyGen
      P11725 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 69
      Genomic 15
      cDNA 50
      Primer pair 2
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13059, MGD-MRK-14367, MGD-MRK-14517, MGI:2147860
    References
    more
    • Summaries
      All 183
      Developmental Gene Expression 12
      Diseases 10
      Gene Ontology 13
      Phenotypes 75
    • Earliest
      J:310 Welshons WJ, et al., THE Y-CHROMOSOME AS THE BEARER OF MALE DETERMINING FACTORS IN THE MOUSE. Proc Natl Acad Sci U S A. 1959 Apr;45(4):560-6
    • 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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory