PIGM

Protein identityUniProt · HPA

UniProt accession

Q9H3S5

Gene

PIGM

Ensembl

ENSG00000143315

Chromosome

1

Canonical length

423 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

423 residues, UniProt reviewed canonical sequence.

>Q9H3S5|PIGM
     1  MGSTKHWGEW LLNLKVAPAG VFGVAFLARV ALVFYGVFQD RTLHVRYTDI DYQVFTDAAR
    61  FVTEGRSPYL RATYRYTPLL GWLLTPNIYL SELFGKFLFI SCDLLTAFLL YRLLLLKGLG
   121  RRQACGYCVF WLLNPLPMAV SSRGNADSIV ASLVLMVLYL IKKRLVACAA VFYGFAVHMK
   181  IYPVTYILPI TLHLLPDRDN DKSLRQFRYT FQACLYELLK RLCNRAVLLF VAVAGLTFFA
   241  LSFGFYYEYG WEFLEHTYFY HLTRRDIRHN FSPYFYMLYL TAESKWSFSL GIAAFLPQLI
   301  LLSAVSFAYY RDLVFCCFLH TSIFVTFNKV CTSQYFLWYL CLLPLVMPLV RMPWKRAVVL
   361  LMLWFIGQAM WLAPAYVLEF QGKNTFLFIW LAGLFFLLIN CSILIQIISH YKEEPLTERI
   421  KYD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

10

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

9.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGM.

Disease | AllUniProt

Conditions PIGM is implicated in, by any mechanism.

• Glycosylphosphatidylinositol biosynthesis defect 1 (GPIBD1) MIM:610293

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 160 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.25

gnomAD pLI

0

gnomAD missense Z

-0.08

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• GPI anchor biosynthetic process

Molecular functions

• mannosyltransferase activity
• dol-P-Man:GlcN-acyl-PI alpha-1,4-mannosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• glycosylphosphatidylinositol-mannosyltransferase I complex

Protein domainsUniProt · Pfam · InterPro

• GPI mannosyltransferase 1
• Mannosyltransferase (PIG-M)

KeywordsUniProt

• Endoplasmic reticulum
• Glycosyltransferase
• GPI-anchor biosynthesis
• Membrane
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of PIGM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PIGX