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Protein

GPI ethanolamine phosphate transferase 3

Gene

PIGO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond.2 Publications

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

GO - Molecular functioni

  • mannose-ethanolamine phosphotransferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayiUPA00196

Names & Taxonomyi

Protein namesi
Recommended name:
GPI ethanolamine phosphate transferase 3 (EC:2.-.-.-)
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class O protein
Short name:
PIG-O
Gene namesi
Name:PIGO
ORF Names:UNQ632/PRO1249
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000165282.13
HGNCiHGNC:23215 PIGO
MIMi614730 gene
neXtProtiNX_Q8TEQ8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Transmembranei457 – 477HelicalSequence analysisAdd BLAST21
Transmembranei482 – 502HelicalSequence analysisAdd BLAST21
Transmembranei510 – 530HelicalSequence analysisAdd BLAST21
Transmembranei541 – 561HelicalSequence analysisAdd BLAST21
Transmembranei575 – 595HelicalSequence analysisAdd BLAST21
Transmembranei668 – 688HelicalSequence analysisAdd BLAST21
Transmembranei701 – 721HelicalSequence analysisAdd BLAST21
Transmembranei747 – 767HelicalSequence analysisAdd BLAST21
Transmembranei830 – 850HelicalSequence analysisAdd BLAST21
Transmembranei857 – 877HelicalSequence analysisAdd BLAST21
Transmembranei944 – 964HelicalSequence analysisAdd BLAST21
Transmembranei1014 – 1034HelicalSequence analysisAdd BLAST21
Transmembranei1048 – 1068HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures.
See also OMIM:614749
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079410119R → W in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs757441073Ensembl.1
Natural variantiVAR_079412344M → K in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779525065Ensembl.1
Natural variantiVAR_079413370N → S in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression. 1 Publication1
Natural variantiVAR_079414430 – 1089Missing in HPMRS2. 1 PublicationAdd BLAST660
Natural variantiVAR_079415871H → P in HPMRS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs909488930Ensembl.1
Natural variantiVAR_068809957L → F in HPMRS2. 1 PublicationCorresponds to variant dbSNP:rs142164373EnsemblClinVar.1
Natural variantiVAR_0794161047K → E in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; increased protein expression. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi84720
MalaCardsiPIGO
MIMi614749 phenotype
OpenTargetsiENSG00000165282
Orphaneti247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA134993507

Polymorphism and mutation databases

BioMutaiPIGO
DMDMi61252289

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000584381 – 1089GPI ethanolamine phosphate transferase 3Add BLAST1089

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8TEQ8
MaxQBiQ8TEQ8
PaxDbiQ8TEQ8
PeptideAtlasiQ8TEQ8
PRIDEiQ8TEQ8
ProteomicsDBi74479
74480 [Q8TEQ8-2]

PTM databases

iPTMnetiQ8TEQ8
PhosphoSitePlusiQ8TEQ8

Expressioni

Gene expression databases

BgeeiENSG00000165282
CleanExiHS_PIGO
GenevisibleiQ8TEQ8 HS

Organism-specific databases

HPAiHPA014905

Interactioni

Subunit structurei

Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).By similarity

Protein-protein interaction databases

BioGridi124223, 25 interactors
IntActiQ8TEQ8, 2 interactors
MINTiQ8TEQ8
STRINGi9606.ENSP00000339382

Structurei

3D structure databases

ProteinModelPortaliQ8TEQ8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2126 Eukaryota
COG1524 LUCA
GeneTreeiENSGT00910000144278
HOVERGENiHBG031821
InParanoidiQ8TEQ8
KOiK05288
OMAiVEAALWM
OrthoDBiEOG091G04HZ
PhylomeDBiQ8TEQ8
TreeFamiTF354249

Family and domain databases

CDDicd16023 GPI_EPT_3, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR002591 Phosphodiest/P_Trfase
IPR037675 PIG-O_N
PfamiView protein in Pfam
PF01663 Phosphodiest, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q8TEQ8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQKASVLLFL AWVCFLFYAG IALFTSGFLL TRLELTNHSS CQEPPGPGSL
60 70 80 90 100
PWGSQGKPGA CWMASRFSRV VLVLIDALRF DFAQPQHSHV PREPPVSLPF
110 120 130 140 150
LGKLSSLQRI LEIQPHHARL YRSQVDPPTT TMQRLKALTT GSLPTFIDAG
160 170 180 190 200
SNFASHAIVE DNLIKQLTSA GRRVVFMGDD TWKDLFPGAF SKAFFFPSFN
210 220 230 240 250
VRDLDTVDNG ILEHLYPTMD SGEWDVLIAH FLGVDHCGHK HGPHHPEMAK
260 270 280 290 300
KLSQMDQVIQ GLVERLENDT LLVVAGDHGM TTNGDHGGDS ELEVSAALFL
310 320 330 340 350
YSPTAVFPST PPEEPEVIPQ VSLVPTLALL LGLPIPFGNI GEVMAELFSG
360 370 380 390 400
GEDSQPHSSA LAQASALHLN AQQVSRFLHT YSAATQDLQA KELHQLQNLF
410 420 430 440 450
SKASADYQWL LQSPKGAEAT LPTVIAELQQ FLRGARAMCI ESWARFSLVR
460 470 480 490 500
MAGGTALLAA SCFICLLASQ WAISPGFPFC PLLLTPVAWG LVGAIAYAGL
510 520 530 540 550
LGTIELKLDL VLLGAVAAVS SFLPFLWKAW AGWGSKRPLA TLFPIPGPVL
560 570 580 590 600
LLLLFRLAVF FSDSFVVAEA RATPFLLGSF ILLLVVQLHW EGQLLPPKLL
610 620 630 640 650
TMPRLGTSAT TNPPRHNGAY ALRLGIGLLL CTRLAGLFHR CPEETPVCHS
660 670 680 690 700
SPWLSPLASM VGGRAKNLWY GACVAALVAL LAAVRLWLRR YGNLKSPEPP
710 720 730 740 750
MLFVRWGLPL MALGTAAYWA LASGADEAPP RLRVLVSGAS MVLPRAVAGL
760 770 780 790 800
AASGLALLLW KPVTVLVKAG AGAPRTRTVL TPFSGPPTSQ ADLDYVVPQI
810 820 830 840 850
YRHMQEEFRG RLERTKSQGP LTVAAYQLGS VYSAAMVTAL TLLAFPLLLL
860 870 880 890 900
HAERISLVFL LLFLQSFLLL HLLAAGIPVT TPGPFTVPWQ AVSAWALMAT
910 920 930 940 950
QTFYSTGHQP VFPAIHWHAA FVGFPEGHGS CTWLPALLVG ANTFASHLLF
960 970 980 990 1000
AVGCPLLLLW PFLCESQGLR KRQQPPGNEA DARVRPEEEE EPLMEMRLRD
1010 1020 1030 1040 1050
APQHFYAALL QLGLKYLFIL GIQILACALA ASILRRHLMV WKVFAPKFIF
1060 1070 1080
EAVGFIVSSV GLLLGIALVM RVDGAVSSWF RQLFLAQQR
Length:1,089
Mass (Da):118,699
Last modified:March 15, 2005 - v3
Checksum:i0F47404F6FAD50B6
GO
Isoform 2 (identifier: Q8TEQ8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     449-865: Missing.

Note: No experimental confirmation available.
Show »
Length:672
Mass (Da):73,992
Checksum:iEF2958613DFFC47A
GO

Sequence cautioni

The sequence AAC07985 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAH01030 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH13987 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB84890 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence BAC03414 differs from that shown. Reason: Frameshift at several positions.Curated
The sequence CAD38806 differs from that shown. Reason: Frameshift at position 46.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti179 – 181DDT → ARG in AAH13987 (PubMed:15489334).Curated3
Sequence conflicti225 – 231DVLIAHF → EVSNQHV in AAH01030 (PubMed:15489334).Curated7
Sequence conflicti350G → W in AAH29271 (PubMed:15489334).Curated1
Sequence conflicti353D → Y in AAH29271 (PubMed:15489334).Curated1
Sequence conflicti415 – 416KG → R in CAD38806 (PubMed:17974005).Curated2
Sequence conflicti884 – 969PFTVP…ESQGL → KYLSSDSLKDNSDVSSAPLV FKEVLLLMFLSLTEGPMPHT TRKVFLVSSLLPAIAKQIDP SCWFPGFMERRDKESSKTPC GNAASS in BAB89338 (PubMed:12044878).CuratedAdd BLAST86

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079410119R → W in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity. 2 PublicationsCorresponds to variant dbSNP:rs757441073Ensembl.1
Natural variantiVAR_071074130T → N Probable disease-associated mutation found in a patient with epileptic encephalopathy; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression. 1 Publication1
Natural variantiVAR_079411255M → I Found in patients with severe infantile epileptic encephalopathy; unknown pathological significance. 1 Publication1
Natural variantiVAR_079412344M → K in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779525065Ensembl.1
Natural variantiVAR_079413370N → S in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; decreased protein expression. 1 Publication1
Natural variantiVAR_079414430 – 1089Missing in HPMRS2. 1 PublicationAdd BLAST660
Natural variantiVAR_036332686L → M in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_079415871H → P in HPMRS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs909488930Ensembl.1
Natural variantiVAR_068809957L → F in HPMRS2. 1 PublicationCorresponds to variant dbSNP:rs142164373EnsemblClinVar.1
Natural variantiVAR_0794161047K → E in HPMRS2; decrease in mannose-ethanolamine phosphotransferase activity; increased protein expression. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003944449 – 865Missing in isoform 2. 1 PublicationAdd BLAST417

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL833956 mRNA Translation: CAD38806.1 Frameshift.
AK074064 mRNA Translation: BAB84890.1 Frameshift.
AK090433 mRNA Translation: BAC03414.1 Frameshift.
AY358472 mRNA Translation: AAQ88836.1
AC004472 Genomic DNA Translation: AAC07985.1 Sequence problems.
AL353795 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58397.1
BC001030 mRNA Translation: AAH01030.1 Different initiation.
BC013987 mRNA Translation: AAH13987.1 Different initiation.
BC029271 mRNA Translation: AAH29271.1
BC036916 mRNA Translation: AAH36916.1
BC065282 mRNA Translation: AAH65282.1
AB083625 Genomic DNA Translation: BAB89338.1
CCDSiCCDS6575.1 [Q8TEQ8-1]
CCDS6576.1 [Q8TEQ8-2]
PIRiT02245
RefSeqiNP_001188413.1, NM_001201484.1 [Q8TEQ8-2]
NP_116023.2, NM_032634.3 [Q8TEQ8-1]
NP_690577.2, NM_152850.3 [Q8TEQ8-2]
XP_005251676.1, XM_005251619.3 [Q8TEQ8-1]
XP_016870711.1, XM_017015222.1 [Q8TEQ8-1]
XP_016870712.1, XM_017015223.1 [Q8TEQ8-2]
XP_016870713.1, XM_017015224.1 [Q8TEQ8-2]
UniGeneiHs.522099
Hs.735712

Genome annotation databases

EnsembliENST00000298004; ENSP00000298004; ENSG00000165282 [Q8TEQ8-2]
ENST00000361778; ENSP00000354678; ENSG00000165282 [Q8TEQ8-2]
ENST00000378617; ENSP00000367880; ENSG00000165282 [Q8TEQ8-1]
GeneIDi84720
KEGGihsa:84720
UCSCiuc003zwd.4 human [Q8TEQ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPIGO_HUMAN
AccessioniPrimary (citable) accession number: Q8TEQ8
Secondary accession number(s): B1AML3
, Q6P154, Q6UX80, Q8TDS8, Q96CS9, Q9BVN9, Q9Y4B0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: March 15, 2005
Last modified: June 20, 2018
This is version 147 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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