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OTC ornithine carbamoyltransferase [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu24757 NM_000531 Homo sapiens ornithine carbamoyltransferase (OTC), mRNA. pcDNA3.1+-DYK In-stock 5-7 $99.00
OHu24757C NM_000531 Homo sapiens ornithine carbamoyltransferase (OTC), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol OTC
Entrez Gene ID 5009
Full Name ornithine carbamoyltransferase
Synonyms OCTD
General protein information
Preferred Names
ornithine carbamoyltransferase, mitochondrial
Names
ornithine carbamoyltransferase, mitochondrial
OTCase
ornithine transcarbamylase
NP_000522.3
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp21.1

Summary 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].
Disorder

MIM: 300461

Ornithine transcarbamylase deficiency, 311250 (3)

mRNA Protein Product Sequence Price Select
NM_000531, 197116380 NP_000522, 38788445 ornithine carbamoyltransferase, mitochondrial precursor ORF Sequence $269.00
KEGG
hsa00330Arginine and proline metabolism
hsa_M00029Urea cycle
hsa01230Biosynthesis of amino acids
WikiPathways
WP497Urea cycle and metabolism of amino groups
BIOCYC
META_PWY-4984urea cycle
HUMAN_PWY-4981proline biosynthesis II (from arginine)
HUMAN_ARGININE-SYN4-PWYarginine biosynthesis IV
HUMAN_CITRULLINE-DEG-PWYcitrulline degradation
HUMAN_CITRULBIO-PWYcitrulline biosynthesis
HUMAN_PWY-4984urea cycle
HUMAN_PWY-5004superpathway of citrulline metabolism
Reactome
REACT_13Metabolism of amino acids and derivatives
REACT_847Urea cycle
REACT_111217Metabolism
Homo sapiens (human)OTCNP_000522.3
Canis lupus familiaris (dog)OTCXP_537995.1
Bos taurus (cattle)OTCNP_803453.1
Mus musculus (house mouse)OtcNP_032795.1
Rattus norvegicus (Norway rat)OtcNP_037210.1
Gallus gallus (chicken)OTCNP_990241.1
Danio rerio (zebrafish)otcXP_001334671.1
Arabidopsis thaliana (thale cress)OTCNP_177667.1
Xenopus (Silurana) tropicalis (western clawed frog)otcNP_001005795.1
Process
IDNameEvidence
GO:0000050urea cycleIDA
GO:0000050urea cycleIEA
GO:0000050urea cycleTAS
GO:0001889liver developmentIEA
GO:0006526arginine biosynthetic processIEA
GO:0006593ornithine catabolic processIDA
GO:0007494midgut developmentIEA
GO:0010043response to zinc ionIEA
GO:0019240citrulline biosynthetic processIDA
GO:0032868response to insulinIEA
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0042493response to drugIEA
GO:0044281small molecule metabolic processTAS
GO:0070207protein homotrimerizationIEA
GO:0070781response to biotinIEA
GO:0097272ammonia homeostasisIMP
Component
IDNameEvidence
GO:0005739mitochondrionIDA
GO:0005743mitochondrial inner membraneIEA
GO:0005759mitochondrial matrixNAS
GO:0005759mitochondrial matrixTAS
Function
IDNameEvidence
GO:0004585ornithine carbamoyltransferase activityEXP
GO:0004585ornithine carbamoyltransferase activityIDA
GO:0005543phospholipid bindingIEA
GO:0016597amino acid bindingIEA
GO:0042301phosphate ion bindingIEA
GeneCards OTC
PDB 1OTH, 1C9Y, 1EP9, 1FVO
UniProt P00480
Vega OTTHUMG00000022727
MIM 300461
Ensembl ENSG00000036473
HGNC 8512
HPRD 08947

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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