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Aliases for OTC Gene

Aliases for OTC Gene

  • Ornithine Carbamoyltransferase 2 3
  • Ornithine Transcarbamylase 3 4
  • EC 2.1.3.3 4 63
  • OTCase 3 4
  • Ornithine Carbamoyltransferase, Mitochondrial 3
  • EC 2.1.3 63
  • OCTD 3

External Ids for OTC Gene

Summaries for OTC Gene

Entrez Gene Summary for OTC Gene

  • This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]

GeneCards Summary for OTC Gene

OTC (Ornithine Carbamoyltransferase) is a Protein Coding gene. Diseases associated with OTC include ornithine transcarbamylase deficiency and diaper rash. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include phospholipid binding and phosphate ion binding.

Gene Wiki entry for OTC Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OTC Gene

Genomics for OTC Gene

Genomic Location for OTC Gene

Start:
38,352,483 bp from pter
End:
38,421,450 bp from pter
Size:
68,968 bases
Orientation:
Plus strand

Genomic View for OTC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OTC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OTC Gene

Regulatory Elements for OTC Gene

Proteins for OTC Gene

  • Protein details for OTC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00480-OTC_HUMAN
    Recommended name:
    Ornithine carbamoyltransferase, mitochondrial
    Protein Accession:
    P00480
    Secondary Accessions:
    • A8K9P2
    • D3DWB0
    • Q3KNR1
    • Q6B0I1
    • Q9NYJ5

    Protein attributes for OTC Gene

    Size:
    354 amino acids
    Molecular mass:
    39935 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for OTC Gene

neXtProt entry for OTC Gene

Proteomics data for OTC Gene at MOPED

Post-translational modifications for OTC Gene

  • Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OTC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for OTC Gene

Suggested Antigen Peptide Sequences for OTC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P00480

UniProtKB/Swiss-Prot:

OTC_HUMAN
Family:
  • Belongs to the ATCase/OTCase family.:
    • P00480
genes like me logo Genes that share domains with OTC: view

No data available for Gene Families for OTC Gene

Function for OTC Gene

Molecular function for OTC Gene

GENATLAS Biochemistry: ornithine carbamoyltransferase,ornithine metabolism,urea cycle,mitochondrial matrix
UniProtKB/Swiss-Prot CatalyticActivity: Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline
UniProtKB/Swiss-Prot EnzymeRegulation: Negatively regulated by lysine acetylation.

Enzyme Numbers (IUBMB) for OTC Gene

Gene Ontology (GO) - Molecular Function for OTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004585 ornithine carbamoyltransferase activity IDA 2556444
GO:0005543 phospholipid binding IEA --
GO:0016597 amino acid binding IEA --
GO:0016743 carboxyl- or carbamoyltransferase activity --
GO:0042301 phosphate ion binding IEA --
genes like me logo Genes that share ontologies with OTC: view
genes like me logo Genes that share phenotypes with OTC: view

miRNA for OTC Gene

miRTarBase miRNAs that target OTC

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for OTC Gene

Localization for OTC Gene

Subcellular locations from UniProtKB/Swiss-Prot for OTC Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OTC Gene COMPARTMENTS Subcellular localization image for OTC gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2
chloroplast 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for OTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with OTC: view

Pathways for OTC Gene

genes like me logo Genes that share pathways with OTC: view

UniProtKB/Swiss-Prot P00480-OTC_HUMAN

  • Pathway: Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1

Gene Ontology (GO) - Biological Process for OTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle TAS --
GO:0001889 liver development IEA --
GO:0006520 cellular amino acid metabolic process --
GO:0006526 arginine biosynthetic process --
GO:0006591 ornithine metabolic process --
genes like me logo Genes that share ontologies with OTC: view

Compounds for OTC Gene

(3) HMDB Compounds for OTC Gene

Compound Synonyms Cas Number PubMed IDs
Citrulline
  • (2S)-2-amino-5-(carbamoylamino)pentanoic acid
372-75-8
Ornithine
  • (+)-S-Ornithine
70-26-8
Phosphate
  • NFB Orthophosphate
14265-44-2

(5) Drugbank Compounds for OTC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-Amino-Pentanoic Acid
target
L-Citrulline
  • 2-Amino-5-uredovaleric acid
372-75-8 target
L-Ornithine
  • (S)-2,5-Diaminopentanoate
70-26-8 target
N-(Phosphonoacetyl)-L-Ornithine
63446-55-9 target
Norvaline
target

(54) Novoseek inferred chemical compound relationships for OTC Gene

Compound -log(P) Hits PubMed IDs
ornithine 97.6 256
carbamoyl phosphate 91 53
orotic acid 89 13
orotidine 84.9 5
phenylbutyrate 84.1 2

(4) PharmGKB related drug/compound annotations for OTC Gene

genes like me logo Genes that share compounds with OTC: view

Transcripts for OTC Gene

mRNA/cDNA for OTC Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OTC Gene

Ornithine carbamoyltransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for OTC Gene

No ASD Table

Relevant External Links for OTC Gene

GeneLoc Exon Structure for
OTC
ECgene alternative splicing isoforms for
OTC

Expression for OTC Gene

mRNA expression in normal human tissues for OTC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OTC Gene

This gene is overexpressed in Liver (39.3) and Small Intestine - Terminal Ileum (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for OTC Gene

SOURCE GeneReport for Unigene cluster for OTC Gene Hs.117050

mRNA Expression by UniProt/SwissProt for OTC Gene

P00480-OTC_HUMAN
Tissue specificity: Mainly expressed in liver and intestinal mucosa
genes like me logo Genes that share expressions with OTC: view

Orthologs for OTC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OTC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OTC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia OTC 35
  • 92.56 (n)
  • 94.92 (a)
OTC 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia OTC 35
  • 93.5 (n)
  • 96.89 (a)
OTC 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Otc 35
  • 88.98 (n)
  • 92.66 (a)
Otc 16
Otc 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OTC 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OTC 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Otc 35
  • 88.79 (n)
  • 91.81 (a)
chicken
(Gallus gallus)
Aves OTC 35
  • 75.05 (n)
  • 75.14 (a)
OTC 36
  • 75 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OTC 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia otc-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia otc 35
  • 71.7 (n)
  • 76.35 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8842 35
zebrafish
(Danio rerio)
Actinopterygii otc 35
  • 68.5 (n)
  • 72.48 (a)
otc 36
  • 68 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR098W 35
  • 51.95 (n)
  • 42.47 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG3 35
  • 52.01 (n)
  • 42.62 (a)
ARG3 36
  • 37 (a)
OneToOne
ARG3 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F14366g 35
  • 51.63 (n)
  • 43.1 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons OTC 35
  • 50.89 (n)
  • 44.97 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01667 35
  • 54.3 (n)
  • 51.61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes arg3 35
  • 51.58 (n)
  • 48.2 (a)
Species with no ortholog for OTC:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OTC Gene

ENSEMBL:
Gene Tree for OTC (if available)
TreeFam:
Gene Tree for OTC (if available)

Paralogs for OTC Gene

No data available for Paralogs for OTC Gene

Variants for OTC Gene

Sequence variations from dbSNP and Humsavar for OTC Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs957415 -- 38,403,790(-) GCATC(C/T)GAGGA intron-variant
rs991916 -- 38,421,648(+) ACTCC(A/G)AAGTT downstream-variant-500B
rs991917 -- 38,421,773(+) TAAAA(C/G)CATGG downstream-variant-500B
rs1133135 -- 38,381,346(+) GGCTT(A/T)GCACT missense, reference
rs1554993 -- 38,408,522(+) AAGTC(A/G)GAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OTC Gene

Variant ID Type Subtype PubMed ID
nsv6867 CNV Insertion 18451855

Relevant External Links for OTC Gene

HapMap Linkage Disequilibrium report
OTC
Human Gene Mutation Database (HGMD)
OTC
Locus Specific Mutation Databases (LSDB)
OTC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OTC Gene

Disorders for OTC Gene

(1) OMIM Diseases for OTC Gene (300461)

UniProtKB/Swiss-Prot

OTC_HUMAN
  • Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the neonatal group (clinical hyperammonemia in the first few days of life) and late onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. {ECO:0000269 PubMed:10070627, ECO:0000269 PubMed:10502831, ECO:0000269 PubMed:10737985, ECO:0000269 PubMed:11793483, ECO:0000269 PubMed:1480464, ECO:0000269 PubMed:1671317, ECO:0000269 PubMed:1721894, ECO:0000269 PubMed:2347583, ECO:0000269 PubMed:2474822, ECO:0000269 PubMed:3170748, ECO:0000269 PubMed:7474905, ECO:0000269 PubMed:7951259, ECO:0000269 PubMed:8019569, ECO:0000269 PubMed:8081373, ECO:0000269 PubMed:8081398, ECO:0000269 PubMed:8099056, ECO:0000269 PubMed:8530002, ECO:0000269 PubMed:8807340, ECO:0000269 PubMed:8830175, ECO:0000269 PubMed:8956038, ECO:0000269 PubMed:8956045, ECO:0000269 PubMed:9143919, ECO:0000269 PubMed:9266388, ECO:0000269 PubMed:9286441, ECO:0000269 PubMed:9452024, ECO:0000269 PubMed:9452049, ECO:0000269 PubMed:9452065, ECO:0000269 Ref.30, ECO:0000269 Ref.41}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(66) Novoseek inferred disease relationships for OTC Gene

Disease -log(P) Hits PubMed IDs
ornithine transcarbamylase deficiency 99.5 205
hyperammonemia 95.5 86
orotic aciduria 95 12
ornithine carbamoyltransferase deficiency disease 91.1 5
citrullinemia 85.6 11

Genatlas disease for OTC Gene

neonatal distress and hyperammonemia,including late-onset hyperammonemic coma

Relevant External Links for OTC

Genetic Association Database (GAD)
OTC
Human Genome Epidemiology (HuGE) Navigator
OTC
genes like me logo Genes that share disorders with OTC: view

Publications for OTC Gene

  1. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. (PMID: 1721894) Hentzen D. … Munnich A. (Hum. Genet. 1991) 3 4 23
  2. Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PMID: 1671317) Grompe M. … Fenwick R.G. Jr. (Am. J. Hum. Genet. 1991) 3 4 23
  3. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency. (PMID: 7474905) Zimmer K.P. … Matsuda I. (J. Inherit. Metab. Dis. 1995) 3 4 23
  4. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early- onset OTC deficiency. (PMID: 8081398) Matsuura T. … Matsuda I. (Hum. Mutat. 1994) 3 4 23
  5. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency. (PMID: 8099056) Tsai M.Y. … Tuchman M. (Hum. Genet. 1993) 3 4 23

Products for OTC Gene

Sources for OTC Gene

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