PIGF

Protein identityUniProt · HPA

UniProt accession

Q07326

Gene

PIGF

Ensembl

ENSG00000151665

Chromosome

2

Canonical length

219 aa

Protein class

Disease related genes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

219 residues, UniProt reviewed canonical sequence.

>Q07326|PIGF
     1  MKDNDIKRLL YTHLLCIFSI ILSVFIPSLF LENFSILETH LTWLCICSGF VTAVNLVLYL
    61  VVKPNTSSKR SSLSHKVTGF LKCCIYFLMS CFSFHVIFVL YGAPLIELAL ETFLFAVILS
   121  TFTTVPCLCL LGPNLKAWLR VFSRNGVTSI WENSLQITTI SSFVGAWLGA LPIPLDWERP
   181  WQVWPISCTL GATFGYVAGL VISPLWIYWN RKQLTYKNN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGF 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

6

Mean surface accessibility (rSASA)

0.3

Highest tissue expression

27 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGF.

Disease | AllUniProt

Conditions PIGF is implicated in, by any mechanism.

• Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) MIM:619356

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)

1.26

gnomAD pLI

0

gnomAD missense Z

-0.55

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• GPI anchor biosynthetic process

Cellular components

• endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

• GPI biosynthesis protein Pig-F
• GPI biosynthesis protein family Pig-F

KeywordsUniProt

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