Type | Description |
---|---|
Definition | protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 |
Date | Results | Publications |
---|---|---|
2020-04-18 12:48:00 | This study has identified an increased percentage of IDH1 and PCMTD1 mutations in Squamous Cell Lung Cancers arising in the Appalachian Kentucky residents versus The Cancer Genome Atlas, with population-specific implications for the personalized treatment of this disease. | 30377206 |
2019-08-17 10:32:00 | In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration. | 29310965 |
2016-09-24 10:55:00 | No significant association of PLEKHA7 rs11024102, COL11A1 rs3753841 and PCMTD1-ST18 rs1015213 with primary angle closure glaucoma was found among ethnic Han Chinese from Sichuan | 27455018 |
2014-04-19 10:11:00 | The three genetic susceptibility loci for primary angle-closure glaucoma did not underlie any major phenotypic diversity in terms of disease severity or progression. | 24474268 |
2013-11-02 11:04:00 | In our study, rs1015213 (located in the intergenic region between PCMTD1 and ST18) was associated significantly with primary angle closure. | 23847314 |
Type | IDs |
---|---|
Gene |
UniProtKB-ID:
PCMD1_HUMAN,
A0A024R7U8_HUMAN,
F5H1M8_HUMAN,
B7Z927_HUMAN
UniprotKB:
Q96MG8,
A0A024R7U8,
F5H1M8,
B7Z927
UniParc:
UPI000049E0C1,
UPI00019154F0,
UPI0000047CC0,
UPI0002065A94,
UPI0001BBBBF7
EMBL:
AC103769,
AC090186,
BC032670,
CH471068,
BX640885,
AK304332,
BC010693,
AK056952
Ensembl:
ENSG00000168300
KO:
hsa:115294
|
Nucleutide sequences |
EMBL-CDS:
BAB71324.1,
CAE45939.1,
AAH10693.1,
AAH32670.1,
EAW86711.1,
EAW86712.1,
BAH14163.1
Gene_ORFName:
hCG_27079
Ensembl_TRS:
ENST00000360540,
ENST00000522514,
ENST00000544451
|
Protein sequencees |
Ensembl_PRO:
ENSP00000353739,
ENSP00000428099,
ENSP00000444026
RefSeq:
NP_001273711.1,
NP_001273712.1,
NP_443169.2,
NP_001350122.1
|
Others |
UniRef100:
UniRef100_F5H1M8,
UniRef100_Q96MG8,
UniRef100_B7Z927,
UniRef100_A0A024R7U8
UniRef90:
UniRef90_Q96MG8,
UniRef90_J9NZ31,
UniRef90_F5H1M8
UniRef50:
UniRef50_F1RSF3,
UniRef50_Q96MG8,
UniRef50_J9NZ31
UniGene:
Hs.671268
CCDS:
CCDS6148.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
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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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