Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | OTC | contributors: mct - updated : 29-04-2013 |
HGNC name | ornithine carbamoyltransferase |
HGNC id | 8512 |
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Corresponding disease |
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Location | Xp21.1 Physical location : 38.211.735 - 38.280.702 | ||
Synonym symbol(s) | OCTD | ||
EC.number | 2.1.3.3 |
DNA |
TYPE | functioning gene |
STRUCTURE | 68.97 kb 10 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | Y | status | confirmed |
Map | pter - DXS84 - OTC OTC - DXS209 - DXS56 ,DXS1368 - DXS993 - DXS42 ,DXS7 - MAOA - MAOB - UBE1 - ARAF - SYN1 ,TIMP1 - TBC1D25 - SYP ,TFE3 - OATL2 - MTHFD1P1 - cen |
Authors | Boycott (97) |
regionally located | . being proximal to DMD |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
|
mono polymer | homomer , trimer |
HOMOLOGY |
interspecies | ortholog to rattus Otc (91.8pc) |
ortholog to murine Otc (92.7pc) |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | intracellular |
intracellular,cytoplasm,organelle,mitochondria,inner | |
intracellular,cytoplasm,organelle,mitochondria,matrix | |
intracellular,cytoplasm,organelle,membrane |
basic FUNCTION |
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | detoxification |
PATHWAY |
metabolism | aminoacid |
signaling |
| |
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a component |
INTERACTION |
DNA |
RNA |
small molecule | other, |
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protein |
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | OTC |
related resource | Ornithine transcarbamylase deficiency |
Susceptibility | to alzheimer disease (AD) |
Variant & Polymorphism SNP | |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |