PIGO

Protein identityUniProt · HPA

UniProt accession

Q8TEQ8

Gene

PIGO

Ensembl

ENSG00000165282

Chromosome

9

Canonical length

1089 aa

Protein class

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

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI Gene

This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The 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 protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

1089 residues, UniProt reviewed canonical sequence.

>Q8TEQ8|PIGO
     1  MQKASVLLFL AWVCFLFYAG IALFTSGFLL TRLELTNHSS CQEPPGPGSL PWGSQGKPGA
    61  CWMASRFSRV VLVLIDALRF DFAQPQHSHV PREPPVSLPF LGKLSSLQRI LEIQPHHARL
   121  YRSQVDPPTT TMQRLKALTT GSLPTFIDAG SNFASHAIVE DNLIKQLTSA GRRVVFMGDD
   181  TWKDLFPGAF SKAFFFPSFN VRDLDTVDNG ILEHLYPTMD SGEWDVLIAH FLGVDHCGHK
   241  HGPHHPEMAK KLSQMDQVIQ GLVERLENDT LLVVAGDHGM TTNGDHGGDS ELEVSAALFL
   301  YSPTAVFPST PPEEPEVIPQ VSLVPTLALL LGLPIPFGNI GEVMAELFSG GEDSQPHSSA
   361  LAQASALHLN AQQVSRFLHT YSAATQDLQA KELHQLQNLF SKASADYQWL LQSPKGAEAT
   421  LPTVIAELQQ FLRGARAMCI ESWARFSLVR MAGGTALLAA SCFICLLASQ WAISPGFPFC
   481  PLLLTPVAWG LVGAIAYAGL LGTIELKLDL VLLGAVAAVS SFLPFLWKAW AGWGSKRPLA
   541  TLFPIPGPVL LLLLFRLAVF FSDSFVVAEA RATPFLLGSF ILLLVVQLHW EGQLLPPKLL
   601  TMPRLGTSAT TNPPRHNGAY ALRLGIGLLL CTRLAGLFHR CPEETPVCHS SPWLSPLASM
   661  VGGRAKNLWY GACVAALVAL LAAVRLWLRR YGNLKSPEPP MLFVRWGLPL MALGTAAYWA
   721  LASGADEAPP RLRVLVSGAS MVLPRAVAGL AASGLALLLW KPVTVLVKAG AGAPRTRTVL
   781  TPFSGPPTSQ ADLDYVVPQI YRHMQEEFRG RLERTKSQGP LTVAAYQLGS VYSAAMVTAL
   841  TLLAFPLLLL HAERISLVFL LLFLQSFLLL HLLAAGIPVT TPGPFTVPWQ AVSAWALMAT
   901  QTFYSTGHQP VFPAIHWHAA FVGFPEGHGS CTWLPALLVG ANTFASHLLF AVGCPLLLLW
   961  PFLCESQGLR KRQQPPGNEA DARVRPEEEE EPLMEMRLRD APQHFYAALL QLGLKYLFIL
  1021  GIQILACALA ASILRRHLMV WKVFAPKFIF EAVGFIVSSV GLLLGIALVM RVDGAVSSWF
  1081  RQLFLAQQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PIGO 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

14

Mean surface accessibility (rSASA)

0.26

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PIGO.

Disease | AllUniProt

Conditions PIGO is implicated in, by any mechanism.

• Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) MIM:614749

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 1,071 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hyperphosphatasia with intellectual disability syndrome 2
• Hyperphosphatasia-intellectual disability syndrome
• Inborn genetic diseases
• Hyperphosphatasia with intellectual disability syndrome 1

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)

0.81

gnomAD pLI

0

gnomAD missense Z

0.96

DepMap mean gene effect

-0.1

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

Molecular functions

• mannose-ethanolamine phosphotransferase activity

Cellular components

• endoplasmic reticulum membrane
• membrane

Protein domainsUniProt · Pfam · InterPro

• Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase
• Alkaline-phosphatase-like, core domain superfamily
• Type I phosphodiesterase / nucleotide pyrophosphatase
• GPI ethanolamine phosphate transferase 3, N-terminal
• GPI ethanolamine phosphate transferase 3

KeywordsUniProt

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