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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

OTC Gene

protein-coding GIFtS: 62
GCID: GC0XP038211

ornithine carbamoyltransferase

Explore 79 diseases affiliated with
OTC via

MalaCards

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ornithine Carbamoyltransferase¹ ²		OCTD²
Ornithine Transcarbamylase² ³		Ornithine Carbamoyltransferase, Mitochondrial²
OTCase² ³		EC 2.1.3⁸
EC 2.1.3.3³ ⁸

External Ids:	HGNC: 8512¹	Entrez Gene: 5009²	Ensembl: ENSG00000036473⁷	OMIM: 300461⁵	UniProtKB: P00480³

Export aliases for OTC gene to outside databases

Previous GC identifers: GC0XP036316 GC0XP036498 GC0XP037053 GC0XP037242 GC0XP037967 GC0XP038096 GC0XP035956

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OTC:

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)

Gene Wiki entry for OTC (Ornithine transcarbamylase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_079573.4

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the OTC gene promoter:
COUP-TF1 GR AP-1 ATF-2 COUP HNF-4alpha2 HNF-4alpha1 COUP-TF c-Jun GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: OTC promoter sequence

Search SABiosciences Chromatin IP Primers for OTC

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTC

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp21.1 Ensembl cytogenetic band: Xp11.4 HGNC cytogenetic band: Xp21.1

OTC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTC gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP038211: view genomic region (about GC identifiers)

Start:	38,211,736 bp from pter	End:	38,280,703 bp from pter
Size:	68,968 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480 (See protein sequence)

Recommended Name: Ornithine carbamoyltransferase, mitochondrial precursor

Size: 354 amino acids; 39935 Da

Subunit: Homotrimer

Subcellular location: Mitochondrion matrix

4 PDB 3D structures from and Proteopedia for OTC:

1C9Y (3D)

1EP9 (3D)

1FVO (3D)

1OTH (3D)

Secondary accessions: A8K9P2 D3DWB0 Q3KNR1 Q6B0I1 Q9NYJ5

Explore the universe of human proteins at neXtProt for OTC: NX_P00480

Post-translational modifications:

Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00480

4/15 DME Specific Peptides for OTC (P00480) (see all 15)

TNDPLEA

TDTWISM

KRSTRTR

WIGDGNN

OTC Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000522.3

ENSEMBL proteins:

ENSP00000039007

Reactome Protein details: P00480
Human Recombinant Protein Products:

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	Novus Biologicals OTC Proteins Novus Biologicals OTC Lysate
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	ProSpec Recombinant Protein for OTC
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

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	--
GO:0009348	ornithine carbamoyltransferase complex	NAS	--

OTC for ontologies About GeneDecksing

OTC Antibody Products:

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Assay Products for OTC:

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

OTC for domains About GeneDecksing

4 InterPro domains/families:

IPR006132 Asp/Orn_carbamoyltranf_P-bd

IPR006131 Asp_carbamoyltransf_Asp/Orn-bd

IPR002292 Orn/put_carbamltrans

IPR006130 Asp/Orn_carbamoylTrfase

Graphical View of Domain Structure for InterPro Entry P00480

ProtoNet protein and cluster: P00480

1 Blocks protein family: IPB002292 Ornithine carbamoyltransferase signature

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480

Similarity: Belongs to the ATCase/OTCase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480

Catalytic activity: Carbamoyl phosphate + L-ornithine = phosphate + L-citrulline

Enzyme regulation: Negatively regulated by lysine acetylation

Genatlas biochemistry entry for OTC:

ornithine carbamoyltransferase,ornithine metabolism,urea cycle,mitochondrial matrix

Enzyme Numbers (IUBMB): EC 2.1.3.3¹ ² EC 2.1.3²

miRNA Products:		OriGene 3'-UTR Clone: OTC Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTC
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate OTC
		SwitchGear 3'UTR luciferase reporter plasmid: OTC 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTC (see all 7) OriGene shRNA RFP: OTC OriGene siRNA: OTC
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for OTC

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for OTC
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTC

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004585	ornithine carbamoyltransferase activity	NAS	--
GO:0005543	phospholipid binding	IEA	--
GO:0016597	amino acid binding	IEA	--
GO:0042301	phosphate ion binding	IEA	--

OTC for ontologies About GeneDecksing

Animal Models:
13 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Otc):

behavior/neurological	cellular	endocrine/exocrine gland	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
nervous system	renal/urinary system	reproductive system

OTC for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

glutamate degradation X

	arginine biosynthesis IV	0.33			Urea cycle	0.00
	urea cycle	0.00

superpathway of citrulline metabolism

superpathway of citrulline metabolism

1.00

citrulline biosynthesis

0.53

Arginine and proline metabolism

Arginine and proline metabolism

1.00

Urea cycle and metabolism of amino groups

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 BioSystems Pathways for OTC (see all 7)

	citrulline biosynthesis
	arginine biosynthesis IV
	superpathway of citrulline metabolism
	Urea cycle and metabolism of amino groups
	proline biosynthesis II (from arginine)

3 Reactome Pathways for OTC

	Metabolism
	Metabolism of amino acids and derivatives
	Urea cycle

2 Kegg Pathways (Kegg details for OTC):

	Arginine and proline metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480

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

OTC for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for OTC

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/44 Interacting proteins for OTC (P00480³ ENSP00000039007⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H2BC	P62807³	I2D: score=1
HIST1H2BE	P62807³	I2D: score=1
HIST1H2BF	P62807³	I2D: score=1
HIST1H2BG	P62807³	I2D: score=1
HIST1H2BI	P62807³	I2D: score=1

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000050	urea cycle	TAS	--
GO:0001889	liver development	IEA	--
GO:0006526	arginine biosynthetic process	NAS	--
GO:0006591	ornithine metabolic process	--	--
GO:0007494	midgut development	IEA	--

OTC for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

OTC for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for OTC

3 HMDB Compounds for OTC About this table

Compound	Synonyms	CAS #	PubMed Ids
Citrulline	(2S)-2-amino-5-(carbamoylamino)pentanoic acid (see all 55)	372-75-8	--
Ornithine	(+)-S-Ornithine (see all 9)	70-26-8	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--

5 DrugBank Compounds for OTC About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Ornithine	(S)-2,5-Diaminopentanoate (see all 4)	70-26-8	target	--	12399499 16585758 12679340 15766270
Norvaline	--	--	target	--	17139284 17016423 10592235
2-Amino-Pentanoic Acid	--	--	target	--	17139284 17016423
L-Citrulline	2-Amino-5-uredovaleric acid (see all 8)	372-75-8	target	--	16585758 10648527
N-(Phosphonoacetyl)-L-Ornithine	--	63446-55-9	target	--	17139284 17016423

10/54 Novoseek chemical compound relationships for OTC gene (see all 54) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ornithine	97.6	1051	1549234 (6), 2342523 (6), 14607061 (5), 20004862 (5) (see all 99)
carbamoyl phosphate	91	80	10813810 (3), 11388595 (3), 9540805 (2), 1720458 (2) (see all 44)
orotic acid	89	18	15174800 (1), 2081192 (1), 1434508 (1), 7773204 (1) (see all 13)
orotidine	84.9	5	2342523 (2), 10388475 (2), 11117427 (1)
phenylbutyrate	84.1	3	11286510 (1), 8412748 (1)
citrulline	81.6	21	17407001 (2), 7797025 (1), 8778603 (1), 18562231 (1) (see all 12)
benzoate	77	4	1863104 (1), 19000997 (1)
urea	76	89	17098461 (3), 15050979 (2), 10946359 (2), 20299258 (2) (see all 48)
allopurinol	69.4	23	15159648 (3), 2342523 (2), 11117427 (2), 10388475 (2) (see all 13)
norvaline	68.6	7	10813810 (2), 18062991 (1), 11237854 (1)

3 PharmGKB related drug/compound annotations for OTC gene

Drug/compound	PharmGKB Annotation
phenylacetic acid	DL
sodium benzoate	DL
valproic acid	DL

About this table

Search CenterWatch for drugs/clinical trials and news about OTC

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for OTC gene:

NM_000531.5

Unigene Cluster for OTC:

Ornithine carbamoyltransferase

Hs.117050 [show with all ESTs]

Unigene Representative Sequence: NM_000531

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000039007(uc004def.4) ENST00000488812 ENST00000487658

miRNA Products:		OriGene 3'-UTR Clone: OTC Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat OTC
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		GenScript: all cDNA clones in your preferred vector: OTC (NM_017617)
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Additional cDNA sequence:

AK292757.1 BC074745.2 BC107153.1 BC107154.1 BC114496.1 K02100.1

2 DOTS entries:

DT.410164 DT.91668489

13 AceView cDNA sequences:

BX494966 BX118743 AI032960 AA677307 BC074745 BX496295 AA463601 AV682105

NM_000531 CB158478 AA677326 K02100 AI023397

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

OTC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTGTCCCTGC

About this image

OTC expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Liver

Liver Lobule

Mature Hepatocytes

Selective marker (cell-identifying gene)

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See OTC Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for OTC

SOURCE GeneReport for Unigene cluster: Hs.117050

UniProtKB/Swiss-Prot: OTC_HUMAN, P00480

Tissue specificity: Mainly expressed in liver and intestinal mucosa

SABiosciences Expression via Pathway-Focused PCR Array including OTC:

Amino Acid Metabolism I in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTC

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for OTC gene from 10/31 species (see all 31) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Otc^{1 , 5}	ornithine transcarbamylase^{1, 5}	88.98(n)¹ 92.66(a)¹		X (4.66 cM)⁵ 18416¹ NM_008769.3¹ NP_032795.1¹ 10252305⁵
chicken (Gallus gallus)	Aves	OTC¹	ornithine carbamoyltransferase	75.05(n) 75.14(a)		395735 NM_204910.1 NP_990241.1
lizard (Anolis carolinensis)	Reptilia	OTC⁶	--	74(a)	1 ↔ 1	3(132459268-132492356)
African clawed frog (Xenopus laevis)	Amphibia	otc-A²	ornithine carbamoyltransferase	76.05(n)		AF134842.1
zebrafish (Danio rerio)	Actinopterygii	otc¹	ornithine carbamoyltransferase	68.5(n) 72.48(a)		794667 XM_001334635.3 XP_001334671.1
honey bee (Apis mellifera)	Insecta	--	--	35(a)	1 ↔ 1	GroupUn.4332(227-1219)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ARG3(YJL088W)⁴ ARG3¹	Ornithine carbamoyltransferase (carbamoylphosphate:L-ornithine more⁴ Arg3p¹	51.79(n)¹ 42.62(a)¹		10(268799-269815)⁴ 853357^{1, 4} NP_012447.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	OTC¹	ornithine carbamoyltransferase	50.61(n) 44.15(a)		843869 NM_106187.3 NP_177667.1
rice (Oryza sativa)	Liliopsida	--	ornithine carbamoyltransferase, putative, expresse...	35(a)	1 ↔ 1	2(29072392-29075393)
E. coli (Escherichia coli)	Gamma proteobacteria	argI⁶ argF⁶ (see all 3)	ornithine carbamoyltransferase 1 ornithine carbamoyltransferase 2, chain F; CP4-6 p... (see all 3)	37(a) 35(a) (see all 3)	many → 1 many → 1 (see all 3)	Chromosome(4475330-4476334) Chromosome(288525-289529)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800321^1,2	C,F,O,A,H,	non-pathogenic	38226603(+)	`TCTAAA/GAAACT`	2	K R	mis¹		29		NS EA NA WA CSA	7017
rs67752076^1,2	C	pathogenic	38211950(+)	`AGAAGA/G/TTGCTG`	3	M V L	mis¹		0	--	--	--	--
rs67077695^1,2	C	pathogenic	38212027(+)	`TTTCGA/G/TTAAGT`	1	--	spd¹		0	--	--	--	--
rs72554307^1,2	C	pathogenic	38226584(+)	`AGGGCC/TGTGAC`	2	R C	mis¹		0	--	--	--	--
rs72554308^1,2	C	pathogenic	38226585(+)	`GGGCCA/GTGACC`	2	H R	mis¹		0	--	--	--	--
rs72554312^1,2	C	pathogenic	38226600(+)	`CACTCC/TAAAAA`	2	P L	mis¹		0	--	--	--	--
rs67939655^1,2	C	pathogenic	38226606(+)	`AAAAAA/C/TCTTTA`	3	N T I	mis¹		1		NA	4388
rs67486158^1,2	C	pathogenic	38226614(+)	`TTACCA/G/TGAGAA`	3	R G *	mis¹ stg¹		0	--	--	--	--
rs66521141^1,2	C	pathogenic	38226620(+)	`GAGAAA/G/TAAATT`	3	K E *	mis¹ stg¹		0	--	--	--	--
rs66677059^1,2	C	pathogenic	38226624(+)	`AGAAAC/G/TTAAAT`	3	T S I	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for OTC (38211736 - 38280703 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for OTC: --
Human Gene Mutation Database (HGMD): OTC

Locus Specific Mutation Databases (LSDB): OTC

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing OTC

DNA2.0 Custom Variant and Variant Library Synthesis for OTC

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OTC for disorders           About GeneDecksing

OMIM gene information: 300461
OMIM disorders: 311250
UniProtKB/Swiss-Prot: OTC_HUMAN, P00480

Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. OTCD is 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

20/79 diseases for OTC (see all 79): About MalaCards

medium-chain acyl-coenzyme a dehydrogenase deficiency duchenne muscular dystrophy short-chain acyl-coa dehydrogenase deficiency muscular dystrophy

acyl-coa dehydrogenase crigler-najjar syndrome maple syrup urine disease alpha 1-antitrypsin deficiency

ornithine carbamoyltransferase deficiency lysinuric protein intolerance diaper rash amino acid metabolic disorder

propionic acidemia urea cycle disorder miliaria rubra adenosine deaminase deficiency

multiple carboxylase deficiency glycogen storage disease argininosuccinic aciduria acrodermatitis enteropathica

2 diseases from the University of Copenhagen DISEASES database for OTC:

Ornithine carbamoyltransferase deficiency Reye syndrome

10/66 Novoseek disease relationships for OTC gene (see all 66) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ornithine transcarbamylase deficiency	99.5	388	14607061 (5), 20004862 (5), 7797025 (4), 7499756 (4) (see all 99)
hyperammonemia	95.5	108	1549234 (4), 19225137 (3), 1742044 (2), 11104170 (2) (see all 71)
orotic aciduria	95	14	18440262 (1), 1456259 (1), 7499756 (1), 8938172 (1) (see all 12)
ornithine carbamoyltransferase deficiency disease	91.1	5	12974275 (1), 2298453 (1), 12974280 (1), 12974271 (1) (see all 5)
citrullinemia	85.6	21	18562231 (2), 10869432 (1), 11337324 (1), 15164414 (1) (see all 10)
carbamoyl phosphate synthetase deficiency	83.4	4	1863104 (1), 20004862 (1), 1720458 (1), 15863597 (1)
argininosuccinate lyase deficiency	82.8	10	18616627 (2), 10869432 (1), 19217439 (1), 15164414 (1)
hyperargininemia	77.1	9	20004862 (4), 15798789 (1), 18033025 (1), 7717428 (1) (see all 6)
aciduria argininosuccinic	74.6	5	18562231 (2), 11148551 (1), 7717428 (1)
enzyme deficiency	74.5	6	8464164 (1), 16774619 (1), 8099056 (1), 8677801 (1) (see all 5)

Genatlas disease: OTC

neonatal distress and hyperammonemia,including late-onset hyperammonemic coma

Human Genome Epidemiology (HuGE) Navigator: OTC (4 documents)

Export disorders for OTC gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for OTC gene, integrated from 9 sources (see all 433):
(articles sorted by number of sources associating them with OTC)

Utopia: connect your pdf to the dynamic
world of online information

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency. (PubMed id 10502831)^{1, 2, 9} Climent C.... Rubio V. (1999)
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency. (PubMed id 9286441)^{1, 2, 9} Matsuda I. and Tanase S. (1997)
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families. (PubMed id 8830175)^{1, 2, 9} Yoo H.-W.... Lee D.-H. (1996)
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. (PubMed id 11793483)^{1, 2, 9} Climent C. and Rubio V. (2002)
Improved molecular diagnostics for ornithine transcarbamylase deficiency. (PubMed id 1671317)^{1, 2, 9} Grompe M.... Fenwick R.G. Jr. (1991)
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia. (PubMed id 9065786)^{1, 2, 9} Morizono H.... Allewell N.M. (1997)
Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution. (PubMed id 10813810)^{1, 2, 9} Shi D.... Allewell N.M. (2000)
Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency. (PubMed id 9266388)^{1, 2, 9} Tuchman M.... Allewell N.M. (1997)
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms. (PubMed id 8956038)^{1, 2, 9} Leibundgut E.O.... Liechti-Gallati S. (1996)
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency. (PubMed id 8530002)^{1, 2, 9} Garcia-Perez M.A....Rubio V. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5009	HGNC: 8512	AceView: OTC	Ensembl:ENSG00000036473	euGenes: HUgn5009
ECgene: OTC	Kegg: 5009	H-InvDB: OTC

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for OTC	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OTC

Intellectual Property for OTC gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for OTC gene:
Search GeneIP for patents involving OTC

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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OTC Gene

ornithine carbamoyltransferase

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WILSON DISEASE
Astrocytosis
lactic acidemia
Phenylketonurias
Ornithine Carbamoyltransferase Deficiency Disease
GASTROINTESTINAL BLEEDING
Cystic Fibrosis
Retinitis Pigmentosa
Intoxication
Cancer
ENCEPHALOPATHY
Glycogen Storage Disease
methylmalonic aciduria
Eye Diseases
orotic aciduria
ARGININOSUCCINATE LYASE DEFICIENCY
Galactosemias
Citrullinemia
Granulomatous Disease Chronic
Muscular Dystrophy Duchenne
Hepatitis
developmental delay
Liver Failure Acute
carbamoyl phosphate synthetase deficiency
psychiatric disorder
Cerebral Edema
Tumors
HELLP Syndrome
Mental Retardation
DEATH NEONATAL
metabolic disorder
Hepatoblastoma
Adrenoleukodystrophy
ornithine transcarbamylase deficiency
ENZYME DEFICIENCY
Hyperargininemia
Cirrhosis
Crigler-Najjar Syndrome
Alkalosis Respiratory
alpha 1-Antitrypsin Deficiency
Muscular Dystrophies
Hemiparesis
Leukemia
Brain Edema
HEPATOCELLULAR CARCINOMA
Biliary Atresia
LYSINURIC PROTEIN INTOLERANCE
ENCEPHALOPATHY ACUTE
Liver Dysfunction
propionic acidemia
Cystinuria
Homocystinuria
Multiple Carboxylase Deficiency
Histopathology
Atrophy
Leukemia Promyelocytic Acute
STROKE
Vascular Diseases
ACIDURIA ARGININOSUCCINIC
Rett Syndrome
Maple Syrup Urine Disease
Hyperammonemia
genetic disorder
Hypercholesterolemia Familial
Growth retardation
Reye Syndrome

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OTC Gene

ornithine carbamoyltransferase

Aliasesfor OTC gene

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