PIGV

Protein identityUniProt · HPA

UniProt accession

Q9NUD9

Gene

PIGV

Ensembl

ENSG00000060642

Chromosome

1

Canonical length

493 aa

Protein class

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

Subcellular location

Endoplasmic reticulum,Cytosol

OverviewNCBI Gene

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

493 residues, UniProt reviewed canonical sequence.

>Q9NUD9|PIGV
     1  MWPQDPSRKE VLRFAVSCRI LTLMLQALFN AIIPDHHAEA FSPPRLAPSG FVDQLVEGLL
    61  GGLSHWDAEH FLFIAEHGYL YEHNFAFFPG FPLALLVGTE LLRPLRGLLS LRSCLLISVA
   121  SLNFLFFMLA AVALHDLGCL VLHCPHQSFY AALLFCLSPA NVFLAAGYSE ALFALLTFSA
   181  MGQLERGRVW TSVLLFAFAT GVRSNGLVSV GFLMHSQCQG FFSSLTMLNP LRQLFKLMAS
   241  LFLSVFTLGL PFALFQYYAY TQFCLPGSAR PIPEPLVQLA VDKGYRIAEG NEPPWCFWDV
   301  PLIYSYIQDV YWNVGFLKYY ELKQVPNFLL AAPVAILVAW ATWTYVTTHP WLCLTLGLQR
   361  SKNNKTLEKP DLGFLSPQVF VYVVHAAVLL LFGGLCMHVQ VLTRFLGSST PIMYWFPAHL
   421  LQDQEPLLRS LKTVPWKPLA EDSPPGQKVP RNPIMGLLYH WKTCSPVTRY ILGYFLTYWL
   481  LGLLLHCNFL PWT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGV 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)

0.25

Highest tissue expression

38 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGV.

Disease | AllUniProt

Conditions PIGV is implicated in, by any mechanism.

• Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) MIM:239300

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 393 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hyperphosphatasia with intellectual disability syndrome 1
• Inborn genetic diseases
• Hyperphosphatasia-intellectual disability syndrome
• PIGV-related disorder

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)

1.24

gnomAD pLI

0

gnomAD missense Z

0.4

DepMap mean gene effect

-0.22

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

• alpha-1,6-mannosyltransferase activity
• GPI mannosyltransferase activity
• mannosyltransferase activity
• dol-P-Man:Man(1)GlcN-acyl-PI alpha-1,6-mannosyltransferase activity

Cellular components

• endoplasmic reticulum membrane
• mannosyltransferase complex

Protein domainsUniProt · Pfam · InterPro

• GPI mannosyltransferase 2
• Mannosyltransferase (PIG-V)

KeywordsUniProt

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