Property Summary

NCBI Gene PubMed Count 9
PubMed Score 34.20
PubTator Score 8.10

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Synonym

Accession Q9H3S5
Symbols GPI-MT-I

Gene

PANTHER Protein Class (2)

Gene RIF (3)

PMID Text
25293775 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.
23329837 Studies indicate that mutations in PGM1 by exome sequencing cause hypoglycemia and liver abnormalities.
16767100 Mutation substantially reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol(GPI), leading to partial but severe deficiency of GPI.

AA Sequence

MGSTKHWGEWLLNLKVAPAGVFGVAFLARVALVFYGVFQDRTLHVRYTDIDYQVFTDAARFVTEGRSPYL      1 - 70
RATYRYTPLLGWLLTPNIYLSELFGKFLFISCDLLTAFLLYRLLLLKGLGRRQACGYCVFWLLNPLPMAV     71 - 140
SSRGNADSIVASLVLMVLYLIKKRLVACAAVFYGFAVHMKIYPVTYILPITLHLLPDRDNDKSLRQFRYT    141 - 210
FQACLYELLKRLCNRAVLLFVAVAGLTFFALSFGFYYEYGWEFLEHTYFYHLTRRDIRHNFSPYFYMLYL    211 - 280
TAESKWSFSLGIAAFLPQLILLSAVSFAYYRDLVFCCFLHTSIFVTFNKVCTSQYFLWYLCLLPLVMPLV    281 - 350
RMPWKRAVVLLMLWFIGQAMWLAPAYVLEFQGKNTFLFIWLAGLFFLLINCSILIQIISHYKEEPLTERI    351 - 420
KYD                                                                       421 - 423
//

Text Mined References (9)

PMID Year Title
25293775 2014 Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
23329837 2013 Understanding human glycosylation disorders: biochemistry leads the charge.
16767100 2006 Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11226175 2001 PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.
11102867 2000 Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis.