| Type | Description |
|---|---|
| Definition | ornithine carbamoyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2021-04-13 10:11:00 | Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders. | 32273051 |
| 2021-01-23 13:00:00 | Generation of an induced pluripotent stem cell line (SDQLCHi009-A) from a patient with 47,XXY and ornithine transcarbamylase deficiency carrying a hemizygote mutation in OTC. | 32014801 |
| 2019-04-27 10:56:00 | In nine of 38 subjects (24%) with OTC deficiency, this study identified a sequence variant in the OTC regulatory regions. | 29282796 |
| 2018-10-27 10:29:00 | Whole exome sequencing successfully identified disease-causing mutations including two novel ones: the c.209_210delAA (p.Lys70Argfs*17) and the c.850T>A (p.Tyr284Asn). | 30223008 |
| 2018-06-23 10:48:00 | indicate that the proportion of about 20-30% of hepatocytes expressing the functional OTC protein is not sufficient to maintain metabolic stability. X-inactivation ratios assessed in liver biopsies taken from heterozygous females with X-linked disorders should not be considered representative of the whole liver | 29623395 |
| Type | IDs |
|---|---|
| Synonymous | OCTD |
| Gene |
UniProtKB-ID:
OTC_HUMAN
UniprotKB:
P00480
UniParc:
UPI000013C550
EMBL:
AL607040,
BC107153,
AF241726,
S73640,
D00230,
BC114496,
AK292757,
CH471141,
D00095,
X04443,
AL606748,
K02100,
BC107154,
M11235,
BC074745
Ensembl:
ENSG00000036473
KO:
hsa:5009
|
| Nucleutide sequences |
EMBL-CDS:
AAI07154.1,
AAA59975.1,
CAA28039.1,
AAA59976.1,
BAA00058.1,
EAW59439.1,
AAH74745.1,
AAB31859.1,
BAF85446.1,
BAA00161.1,
AAI14497.1,
AAI07155.1,
EAW59440.1
Ensembl_TRS:
ENST00000039007
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000039007
RefSeq:
NP_000522.3,
XP_016885045.1
|
| Others |
UniRef100:
UniRef100_P00480
UniRef90:
UniRef90_P00480
UniRef50:
UniRef50_P00480
UniGene:
Hs.117050
CCDS:
CCDS14247.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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