| Type | Description |
|---|---|
| Definition | ornithine aminotransferase |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:12:00 | Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects. | 33068755 |
| 2019-10-26 11:29:00 | Recruitment of a third-degree first cousin consanguineous marriage family with gyrate atrophy of the choroid and retina (GACR) allowed us to identify a novel pathogenic OAT variant in the Chinese population, broadening the mutation spectrum. | 30366948 |
| 2019-03-30 11:19:00 | One novel homozygous missense mutation in OAT was identified and considered to be pathogenic in a patient with gyrate atrophy. The response for the vitamin B6 supplementation was positive. | 29757052 |
| 2019-03-02 11:45:00 | Study identifies differentially variable CpG sites in OAT gene displaying increased expression in patients with chronic obstructive pulmonary disease. | 29527240 |
| 2018-12-22 11:21:00 | OAT Val332-to-Met substitution identified in pyridoxine-responsive gyrate atrophy patients does not significantly affect the spectroscopic and kinetic properties of OAT, but during catalysis it makes the protein prone to convert into the apo-form, which undergoes unfolding and aggregation under physiological conditions. | 30251682 |
| Type | IDs |
|---|---|
| Synonymous | GACR, HOGA, OATASE, OKT |
| Gene |
UniProtKB-ID:
OAT_HUMAN,
A0A140VJQ4_HUMAN
UniprotKB:
P04181,
A0A140VJQ4
UniParc:
UPI0000000C1B,
UPI0000425C58
EMBL:
M29921,
BC000964,
CR749808,
M29923,
M29924,
BC016928,
M29922,
M23205,
M29920,
M14963,
CR457045,
M88760,
AL445237,
Y07511,
S66421,
M29926,
AK312561,
HM005443,
M29927,
M23204,
M29925,
M12267,
AK315947,
M29919,
S66418,
AK296032,
CH471066
Ensembl:
ENSG00000065154
KO:
hsa:4942
|
| Nucleutide sequences |
EMBL-CDS:
CAH18668.1,
CAG33326.1,
AAB20298.1,
AAA59956.1,
AAA59957.1,
BAH12241.1,
AAH00964.1,
EAW49271.1,
EAW49272.1,
BAG35458.1,
CAA68809.1,
AAH16928.1,
AAA59959.1,
BAH14318.1,
AAB20297.1,
AAA59958.1,
AAA36386.1,
AEE61041.1
Ensembl_TRS:
ENST00000539214,
ENST00000368845
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000357838,
ENSP00000439042
RefSeq:
NP_001165285.1,
XP_016871768.1,
NP_001309896.1,
NP_001309895.1,
NP_001309898.1,
NP_001309897.1,
NP_001309899.1,
NP_001309903.1,
NP_001309900.1,
NP_001309894.1,
NP_000265.1
|
| Others |
UniRef100:
UniRef100_P04181
UniRef90:
UniRef90_P04181
UniRef50:
UniRef50_P04181
UniGene:
Hs.523332
CCDS:
CCDS53586.1,
CCDS7639.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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