Property Summary

NCBI Gene PubMed Count 101
Grant Count 127
R01 Count 34
Funding $27,497,885.11
PubMed Score 151.26
PubTator Score 938.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
medulloblastoma, large-cell 1.200 0.000
colon cancer -2.300 0.000
adult high grade glioma 1.200 0.004
ovarian cancer 1.200 0.000

Synonym

Accession P00480 A8K9P2 D3DWB0 Q3KNR1 Q6B0I1 Q9NYJ5
Symbols OCTD

Gene

OTC

PANTHER Protein Class (1)

PDB

1C9Y   1EP9   1FVO   1OTH  

Gene RIF (34)

PMID Text
26446336 Sanger sequencing of the ornithine transcarbamylase (OTC) gene revealed a novel hemizygous deletion at the fourth nucleotide of intron 4 (c.386+4delT) in a child with hyperammonemia and his asymptomatic mother.
26059767 OTC mutation and phenotype in ornithine transcarbamylase deficiency
25994866 In Korean patients with OTC deficiency, mutations in OTC are genetically heterogeneous.
25853564 The corresponding OTC tissue enzyme activities were between 3-6% of normal control in mouse and human liver. The use of the cryptic splice sites was reproduced in minigenes carrying murine or human mutant sequences
25297582 Data indicate that all of the three patients have carried ornithine transcarbamylase gene mutations, patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N).
25056436 HNF-4alpha most likely plays an essential role in the initiation of OTC transcription in human.
25026867 aim of this study was to provide clues for recognition of OTCD in adults and analyze the environmental factors that, interacting with OTC gene mutations, might have triggered acute clinical manifestations
25011434 Ornithine transcarbamylase deficiency was genetically heterogeneous in seven Korean patients with confirmed ornithine transcarbamylase deficiency diagnosis by biochemical findings and/or genetic analysis, together with two novel mutations in the OTC gene
24711021 V339G and W332S mutations of OTC have been discovered for the first time
21956151 carriers of the ornithine transcarbamylase (OTC) mutation are at risk for developing hyperammonemia coma during the postpartum period and at times of metabolic stress.
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AA Sequence

MLFNLRILLNNAAFRNGHNFMVRNFRCGQPLQNKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQK      1 - 70
GEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLA     71 - 140
RVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAK    141 - 210
FGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQA    211 - 280
FQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQ    281 - 350
KPKF                                                                      351 - 354
//

Text Mined References (107)

PMID Year Title
26446336 2015 A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
26059767 2015 Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
25994866 2015 Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
25853564 2015 Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.
25297582 2014 [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
25056436 2014 HNF-4? regulates expression of human ornithin carbamoyltransferase through interaction with two positive cis-acting regulatory elements located in the proximal promoter.
25026867 2014 Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.
25011434 2014 OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
24711021 2014 [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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