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Entry version 157 (16 Oct 2019)
Sequence version 3 (15 Mar 2005)
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Protein

GPI ethanolamine phosphate transferase 3

Gene

PIGO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00196

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GPI ethanolamine phosphate transferase 3 (EC:2.-.-.-)
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class O protein
Short name:
PIG-O
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PIGO
ORF Names:UNQ632/PRO1249
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:23215 PIGO

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614730 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TEQ8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1214104267Ensembl.1
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

DisGeNET

More...
DisGeNETi
84720

MalaCards human disease database

More...
MalaCardsi
PIGO
MIMi614749 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000165282

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
247262 Hyperphosphatasia-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993507

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TEQ8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIGO

Domain mapping of disease mutations (DMDM)

More...
DMDMi
61252289

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000584381 – 1089GPI ethanolamine phosphate transferase 3Add BLAST1089

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi268N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TEQ8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TEQ8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TEQ8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8TEQ8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8TEQ8

PeptideAtlas

More...
PeptideAtlasi
Q8TEQ8

PRoteomics IDEntifications database

More...
PRIDEi
Q8TEQ8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74479 [Q8TEQ8-1]
74480 [Q8TEQ8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TEQ8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8TEQ8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165282 Expressed in 220 organ(s), highest expression level in mucosa of transverse colon

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TEQ8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014905

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
124223, 25 interactors

Protein interaction database and analysis system

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IntActi
Q8TEQ8, 12 interactors

Molecular INTeraction database

More...
MINTi
Q8TEQ8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367880

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2126 Eukaryota
COG1524 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00910000144278

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TEQ8

KEGG Orthology (KO)

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KOi
K05288

Identification of Orthologs from Complete Genome Data

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OMAi
LGDSTWT

Database of Orthologous Groups

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OrthoDBi
848878at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TEQ8

TreeFam database of animal gene trees

More...
TreeFami
TF354249

Family and domain databases

Conserved Domains Database

More...
CDDi
cd16023 GPI_EPT_3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR002591 Phosphodiest/P_Trfase
IPR037675 PIG-O_N
IPR039524 PIGO/GPI13

The PANTHER Classification System

More...
PANTHERi
PTHR23071 PTHR23071, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01663 Phosphodiest, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53649 SSF53649, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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. Truncated N-terminus.Curated
The sequence AAH13987 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB84890 differs from that shown. Reason: Frameshift.Curated
The sequence BAC03414 differs from that shown. Reason: Frameshift.Curated
The sequence CAD38806 differs from that shown. Reason: Frameshift.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs1214104267Ensembl.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_003944449 – 865Missing in isoform 2. 1 PublicationAdd BLAST417

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS6575.1 [Q8TEQ8-1]
CCDS6576.1 [Q8TEQ8-2]

Protein sequence database of the Protein Information Resource

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PIRi
T02245

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000298004; ENSP00000298004; ENSG00000165282 [Q8TEQ8-2]
ENST00000361778; ENSP00000354678; ENSG00000165282 [Q8TEQ8-2]
ENST00000378617; ENSP00000367880; ENSG00000165282 [Q8TEQ8-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
84720

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84720

UCSC genome browser

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UCSCi
uc003zwd.4 human [Q8TEQ8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi124223, 25 interactors
IntActiQ8TEQ8, 12 interactors
MINTiQ8TEQ8
STRINGi9606.ENSP00000367880

PTM databases

iPTMnetiQ8TEQ8
PhosphoSitePlusiQ8TEQ8

Polymorphism and mutation databases

BioMutaiPIGO
DMDMi61252289

Proteomic databases

EPDiQ8TEQ8
jPOSTiQ8TEQ8
MassIVEiQ8TEQ8
MaxQBiQ8TEQ8
PaxDbiQ8TEQ8
PeptideAtlasiQ8TEQ8
PRIDEiQ8TEQ8
ProteomicsDBi74479 [Q8TEQ8-1]
74480 [Q8TEQ8-2]

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]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84720
DisGeNETi84720

GeneCards: human genes, protein and diseases

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GeneCardsi
PIGO
HGNCiHGNC:23215 PIGO
HPAiHPA014905
MalaCardsiPIGO
MIMi614730 gene
614749 phenotype
neXtProtiNX_Q8TEQ8
OpenTargetsiENSG00000165282
Orphaneti247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA134993507

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2126 Eukaryota
COG1524 LUCA
GeneTreeiENSGT00910000144278
InParanoidiQ8TEQ8
KOiK05288
OMAiLGDSTWT
OrthoDBi848878at2759
PhylomeDBiQ8TEQ8
TreeFamiTF354249

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PIGO human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84720
PharosiQ8TEQ8

Protein Ontology

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PROi
PR:Q8TEQ8

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000165282 Expressed in 220 organ(s), highest expression level in mucosa of transverse colon
GenevisibleiQ8TEQ8 HS

Family and domain databases

CDDicd16023 GPI_EPT_3, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR002591 Phosphodiest/P_Trfase
IPR037675 PIG-O_N
IPR039524 PIGO/GPI13
PANTHERiPTHR23071 PTHR23071, 1 hit
PfamiView protein in Pfam
PF01663 Phosphodiest, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPIGO_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TEQ8
Secondary accession number(s): B1AML3
, Q6P154, Q6UX80, Q8TDS8, Q96CS9, Q9BVN9, Q9Y4B0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: March 15, 2005
Last modified: October 16, 2019
This is version 157 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
UniProt is an ELIXIR core data resource
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