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93183 PIGM

93183

PIGM

phosphatidylinositol glycan anchor biosynthesis class M

protein-coding

Homo sapiens

基因描述

Type Description
Definition phosphatidylinositol glycan anchor biosynthesis class M

研究结论

Date Results Publications
2019-12-07 11:39:00 Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z has been described. 29764287
2015-01-17 12:24:00 B cells but not red cells are glycosylphosphatidylinositol deficient in PIGM-associated inherited glycosylphosphatidylinositol deficiency, caused by a core promoter mutation that abrogates Sp1 binding. 25293775
2013-05-04 11:43:00 Studies indicate that mutations in PGM1 by exome sequencing cause hypoglycemia and liver abnormalities. 23329837
2010-01-21 00:00:00 Mutation substantially reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol(GPI), leading to partial but severe deficiency of GPI. 16767100

名称对应

Type IDs
Synonymous GPI-MT-I
Gene
UniProtKB-ID: PIGM_HUMAN
UniprotKB: Q9H3S5
UniParc: UPI000006D9D7
EMBL: BC001803, AB028127, AL513302, AK074655, BC019865
Ensembl: ENSG00000143315
KO: hsa:93183
Nucleutide sequences
EMBL-CDS: AAH01803.1, AAH19865.1, BAC11116.1, BAB18567.1
Ensembl_TRS: ENST00000368090
Protein sequencees
Ensembl_PRO: ENSP00000357069
RefSeq: NP_660150.1
Others
UniRef100: UniRef100_Q9H3S5
UniRef90: UniRef90_Q9H3S5
UniRef50: UniRef50_Q9H3S5
UniGene: Hs.552810
CCDS: CCDS1192.1

全选

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