Details for: OTC
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: precursor cell (CL0011115)
Fold Change: 4.9683
Cell Significance Index: 37.6800 - Cell Name: hepatoblast (CL0005026)
Fold Change: 3.9205
Cell Significance Index: 65.9400 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 3.3111
Cell Significance Index: -8.8700 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 3.2349
Cell Significance Index: 615.6200 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 2.8518
Cell Significance Index: 82.1700 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 2.0678
Cell Significance Index: 124.1400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.7884
Cell Significance Index: 176.9200 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 1.6963
Cell Significance Index: 36.7500 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 1.5447
Cell Significance Index: 168.0200 - Cell Name: tuft cell of small intestine (CL0009080)
Fold Change: 1.4770
Cell Significance Index: 14.9000 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.4518
Cell Significance Index: 30.9200 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 1.2570
Cell Significance Index: 44.1700 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 1.1981
Cell Significance Index: 29.0200 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 1.1723
Cell Significance Index: 1058.4900 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 1.0308
Cell Significance Index: 167.6600 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.8424
Cell Significance Index: 58.2600 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: 0.4837
Cell Significance Index: 12.0900 - Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.2519
Cell Significance Index: 4.9300 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.2474
Cell Significance Index: 171.1400 - Cell Name: plasmablast (CL0000980)
Fold Change: 0.1390
Cell Significance Index: 1.2900 - Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.1092
Cell Significance Index: 1.1300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.1046
Cell Significance Index: 3.3500 - Cell Name: colonocyte (CL1000347)
Fold Change: 0.0291
Cell Significance Index: 0.1800 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0067
Cell Significance Index: 1.3400 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 0.0027
Cell Significance Index: 0.0400 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0026
Cell Significance Index: 0.1200 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0020
Cell Significance Index: -0.3500 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0065
Cell Significance Index: -2.3200 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0075
Cell Significance Index: -5.5300 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0095
Cell Significance Index: -7.1600 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0098
Cell Significance Index: -5.5200 - Cell Name: GABAergic neuron (CL0000617)
Fold Change: -0.0111
Cell Significance Index: -0.1400 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0118
Cell Significance Index: -8.6700 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0240
Cell Significance Index: -3.3000 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.0246
Cell Significance Index: -1.5100 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0280
Cell Significance Index: -3.2100 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0280
Cell Significance Index: -5.8900 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0293
Cell Significance Index: -8.4400 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.0405
Cell Significance Index: -0.6100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0408
Cell Significance Index: -4.7600 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0448
Cell Significance Index: -8.0700 - Cell Name: centrilobular region hepatocyte (CL0019029)
Fold Change: -0.0558
Cell Significance Index: -0.9400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0568
Cell Significance Index: -6.9800 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0656
Cell Significance Index: -3.3100 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0674
Cell Significance Index: -5.1700 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0680
Cell Significance Index: -8.7800 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0693
Cell Significance Index: -1.4500 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0772
Cell Significance Index: -3.1600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0778
Cell Significance Index: -4.7900 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0943
Cell Significance Index: -1.3500 - Cell Name: stem cell (CL0000034)
Fold Change: -0.1032
Cell Significance Index: -0.7500 - Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: -0.1113
Cell Significance Index: -1.1400 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.1123
Cell Significance Index: -6.3000 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.1175
Cell Significance Index: -8.7600 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.1209
Cell Significance Index: -6.3500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1223
Cell Significance Index: -5.4100 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.1228
Cell Significance Index: -4.0200 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.1240
Cell Significance Index: -4.3500 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.1265
Cell Significance Index: -5.9000 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.1272
Cell Significance Index: -4.0500 - Cell Name: skeletal muscle myoblast (CL0000515)
Fold Change: -0.1315
Cell Significance Index: -1.4300 - Cell Name: medium spiny neuron (CL1001474)
Fold Change: -0.1378
Cell Significance Index: -1.8600 - Cell Name: ionocyte (CL0005006)
Fold Change: -0.1396
Cell Significance Index: -1.4600 - Cell Name: enterocyte (CL0000584)
Fold Change: -0.1402
Cell Significance Index: -0.8700 - Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
Fold Change: -0.1448
Cell Significance Index: -1.9300 - Cell Name: myoblast (CL0000056)
Fold Change: -0.1455
Cell Significance Index: -1.4300 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.1468
Cell Significance Index: -5.5600 - Cell Name: osteoblast (CL0000062)
Fold Change: -0.1474
Cell Significance Index: -1.4300 - Cell Name: muscle cell (CL0000187)
Fold Change: -0.1495
Cell Significance Index: -1.4300 - Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
Fold Change: -0.1505
Cell Significance Index: -1.6500 - Cell Name: decidual cell (CL2000002)
Fold Change: -0.1527
Cell Significance Index: -2.4500 - Cell Name: immature NK T cell (CL0000914)
Fold Change: -0.1617
Cell Significance Index: -2.0700 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: -0.1657
Cell Significance Index: -1.1000 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.1698
Cell Significance Index: -4.5500 - Cell Name: pulmonary capillary endothelial cell (CL4028001)
Fold Change: -0.1716
Cell Significance Index: -2.3500 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.1720
Cell Significance Index: -3.6500 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.1756
Cell Significance Index: -4.3800 - Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: -0.1781
Cell Significance Index: -1.1200 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.1790
Cell Significance Index: -8.4200 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.1798
Cell Significance Index: -3.7300 - Cell Name: progenitor cell (CL0011026)
Fold Change: -0.1845
Cell Significance Index: -1.9600 - Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: -0.1909
Cell Significance Index: -1.8700 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.1931
Cell Significance Index: -7.0900 - Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: -0.1976
Cell Significance Index: -1.8800 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.1995
Cell Significance Index: -2.9900 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.2007
Cell Significance Index: -5.3600 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.2016
Cell Significance Index: -4.3600 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.2030
Cell Significance Index: -4.0800 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.2062
Cell Significance Index: -4.2000 - Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: -0.2095
Cell Significance Index: -2.1100 - Cell Name: urothelial cell (CL0000731)
Fold Change: -0.2108
Cell Significance Index: -1.4700 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: -0.2147
Cell Significance Index: -1.6600 - Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: -0.2206
Cell Significance Index: -2.8500 - Cell Name: keratinocyte (CL0000312)
Fold Change: -0.2258
Cell Significance Index: -5.6400 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.2261
Cell Significance Index: -4.4700 - Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: -0.2285
Cell Significance Index: -2.4200 - Cell Name: thymocyte (CL0000893)
Fold Change: -0.2291
Cell Significance Index: -2.9000 - Cell Name: peptic cell (CL0000155)
Fold Change: -0.2318
Cell Significance Index: -2.0600 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.2367
Cell Significance Index: -4.9400 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2406
Cell Significance Index: -5.7700
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 3881518410
Symbol: OTC_HUMAN
Name: Ornithine carbamoyltransferase, mitochondrial
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 6372096
Title: Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.
PubMed ID: 6372096
PubMed ID: 2836378
Title: Structure of the human ornithine transcarbamylase gene.
PubMed ID: 2836378
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15772651
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 3895227
Title: Arginine in the leader peptide is required for both import and proteolytic cleavage of a mitochondrial precursor.
PubMed ID: 3895227
PubMed ID: 3782067
Title: Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.
PubMed ID: 3782067
PubMed ID: 8081373
Title: A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
PubMed ID: 8081373
DOI: 10.1093/hmg/3.5.831
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 8112735
Title: Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
PubMed ID: 8112735
DOI: 10.1007/bf00210596
PubMed ID: 19318352
Title: Lysine 88 acetylation negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.
PubMed ID: 19318352
PubMed ID: 9852088
Title: 1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.
PubMed ID: 9852088
PubMed ID: 10813810
Title: Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L-norvaline at 1.9 A resolution.
PubMed ID: 10813810
DOI: 10.1002/(sici)1097-0134(20000601)39:4<271::aid-prot10>3.3.co;2-5
PubMed ID: 8364586
Title: Mutations and polymorphisms in the human ornithine transcarbamylase gene.
PubMed ID: 8364586
PubMed ID: 7627182
Title: Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
PubMed ID: 7627182
PubMed ID: 8544185
Title: The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
PubMed ID: 8544185
DOI: 10.1136/jmg.32.9.680
PubMed ID: 3170748
Title: Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
PubMed ID: 3170748
DOI: 10.1172/jci113738
PubMed ID: 2556444
Title: An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells.
PubMed ID: 2556444
DOI: 10.1172/jci114360
PubMed ID: 2474822
Title: Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.
PubMed ID: 2474822
PubMed ID: 2347583
Title: Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency.
PubMed ID: 2347583
PubMed ID: 1671317
Title: Improved molecular diagnostics for ornithine transcarbamylase deficiency.
PubMed ID: 1671317
PubMed ID: 1721894
Title: Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
PubMed ID: 1721894
DOI: 10.1007/bf00206063
PubMed ID: 1480464
Title: Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
PubMed ID: 1480464
PubMed ID: 8099056
Title: Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
PubMed ID: 8099056
DOI: 10.1007/bf00217350
PubMed ID: 8019569
Title: The ornithine transcarbamylase gene: new 'private' mutations in four patients and study of a polymorphism.
PubMed ID: 8019569
PubMed ID: 8081398
Title: Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
PubMed ID: 8081398
PubMed ID: 7951259
Title: Seven new mutations in the human ornithine transcarbamylase gene.
PubMed ID: 7951259
PubMed ID: 8530002
Title: A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
PubMed ID: 8530002
DOI: 10.1007/bf00197410
PubMed ID: 7474905
Title: A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
PubMed ID: 7474905
DOI: 10.1007/bf00710430
PubMed ID: 8807340
Title: Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
PubMed ID: 8807340
DOI: 10.1002/(sici)1098-1004(1996)8:1<74::aid-humu11>3.0.co;2-o
PubMed ID: 8956038
Title: Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
PubMed ID: 8956038
DOI: 10.1002/(sici)1098-1004(1996)8:4<333::aid-humu6>3.0.co;2-8
PubMed ID: 8956045
Title: A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
PubMed ID: 8956045
DOI: 10.1002/(sici)1098-1004(1996)8:4<373::aid-humu13>3.0.co;2-#
PubMed ID: 8830175
Title: Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
PubMed ID: 8830175
DOI: 10.1007/bf01799346
PubMed ID: 9286441
Title: The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
PubMed ID: 9286441
DOI: 10.1002/(sici)1096-8628(19970905)71:4<378::aid-ajmg2>3.3.co;2-9
PubMed ID: 9065786
Title: Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
PubMed ID: 9065786
DOI: 10.1042/bj3220625
PubMed ID: 9143919
Title: Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
PubMed ID: 9143919
DOI: 10.1002/(sici)1098-1004(1997)9:5<409::aid-humu5>3.0.co;2-z
PubMed ID: 9266388
Title: Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
PubMed ID: 9266388
PubMed ID: 9452024
Title: Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
PubMed ID: 9452024
PubMed ID: 9452049
Title: Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
PubMed ID: 9452049
PubMed ID: 9452065
Title: Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
PubMed ID: 9452065
PubMed ID: 10502831
Title: 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
DOI: 10.1002/(sici)1098-1004(199910)14:4<352::aid-humu15>3.0.co;2-d
PubMed ID: 10070627
Title: Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
PubMed ID: 10070627
PubMed ID: 10737985
Title: Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
PubMed ID: 10737985
DOI: 10.1002/(sici)1098-1004(200004)15:4<380::aid-humu12>3.0.co;2-q
PubMed ID: 11793483
Title: 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
DOI: 10.1002/humu.9011
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
Sequence Information:
- Length: 354
- Mass: 39935
- Checksum: AE15B734F6E27A3B
- Sequence:
MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.