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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
  • 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
  • Genetic Map
    Chromosome X, 4.66 cM, cytoband A1
  • Mapping Data
    48 experiments
Strain
Comparison
more
  • SNPs within 2kb
    224 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
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:38327684-38422928 (+)  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
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  • Phenotype Summary
    65 phenotypes from 4 alleles in 8 genetic backgrounds
    28 phenotypes from multigenic genotypes
    2 images
    73 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
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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
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • 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
    • EC
    • 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
    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 176
      Developmental Gene Expression 12
      Diseases 10
      Gene Ontology 8
      Phenotypes 73
    • 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:322548 Santamaria R, et al., Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection. Sci Rep. 2022 Feb 10;12(1):2308

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory