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115294 PCMTD1

115294

PCMTD1

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1

研究结论

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

名称对应

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

全选

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