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UniProtKB - Q5H8A4 (PIGG_HUMAN)

Entry version 132 (07 Oct 2020)
Sequence version 1 (01 Mar 2005)
Previous versions | rss
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Protein

GPI ethanolamine phosphate transferase 2

Gene

PIGG

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 second mannose.1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5H8A4

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q5H8A4

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%5Fand%5Ftaxonomy%5Fsection">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 2 (EC:2.-.-.-)
Alternative name(s):
GPI7 homolog
Short name:
hGPI7
Phosphatidylinositol-glycan biosynthesis class G protein
Short name:
PIG-G
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PIGG
Synonyms:GPI7
ORF Names:UNQ1930/PRO4405
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000174227.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:25985, PIGG

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616918, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5H8A4

<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%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 431LumenalSequence analysisAdd BLAST431
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei432 – 452HelicalSequence analysisAdd BLAST21
Transmembranei471 – 491HelicalSequence analysisAdd BLAST21
Transmembranei506 – 526HelicalSequence analysisAdd BLAST21
Transmembranei552 – 572HelicalSequence analysisAdd BLAST21
Transmembranei699 – 719HelicalSequence analysisAdd BLAST21
Transmembranei721 – 741HelicalSequence analysisAdd BLAST21
Transmembranei752 – 772HelicalSequence analysisAdd BLAST21
Transmembranei789 – 809HelicalSequence analysisAdd BLAST21
Transmembranei812 – 832HelicalSequence analysisAdd BLAST21
Transmembranei879 – 899HelicalSequence analysisAdd BLAST21
Transmembranei919 – 939HelicalSequence analysisAdd BLAST21
Transmembranei955 – 975HelicalSequence 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

Mental retardation, autosomal recessive 53 (MRT53)
The disease is caused by mutations affecting the gene represented in this entry. Cells from patients carrying PIGG disease-causing mutations show abnormal accumulation of the GPI precursors H7 and H7' and absence of mature GPI precursor H8, consistent with a loss of function. However, GPI-anchored proteins, including CD59, CD55, CD24 and CD16, are normally expressed at the cell surface of lymphocytes and granulocytes and CD59 exhibits sensitivity to bacterial phosphatidylinositol-specific phospholipase C, suggesting a normal structure. The role of PIGG in MRT53 etiology is not clear.1 Publication
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Most MRT53 patients manifest severely delayed psychomotor development, hypotonia, and early-onset seizures. Additional features, such as cerebellar hypoplasia and ataxia have been observed in some patients.
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_076775669R → C in MRT53; found in a compound heterozygote that also carries a microdeletion encompassing PIGG; almost complete loss of ethanolamine phosphate transferase activity, as evidenced by abnormal accumulation of the GPI precursors H7 and H7' and absence of mature GPI precursor H8 in patient lymphocytes; does not affect protein expression levels in transfected HEK293 cells. 1 PublicationCorresponds to variant dbSNP:rs372392424EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		54872

MalaCards human disease database

More...MalaCardsi		PIGG
MIMi616917, phenotype

Open Targets

More...OpenTargetsi		ENSG00000174227

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

More...Orphaneti		488635, Early-onset epilepsy-intellectual disability-brain anomalies syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485575

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5H8A4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGG

Domain mapping of disease mutations (DMDM)

More...DMDMi		74707851

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002461851 – 983GPI ethanolamine phosphate transferase 2Add BLAST983

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi194N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q5H8A4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q5H8A4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5H8A4

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

More...PaxDbi		Q5H8A4

PeptideAtlas

More...PeptideAtlasi		Q5H8A4

PRoteomics IDEntifications database

More...PRIDEi		Q5H8A4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4448
62844 [Q5H8A4-1]
62845 [Q5H8A4-2]
62846 [Q5H8A4-3]
62847 [Q5H8A4-4]
62848 [Q5H8A4-5]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q5H8A4, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5H8A4

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

More...PhosphoSitePlusi		Q5H8A4

<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

More...Bgeei		ENSG00000174227, Expressed in lower esophagus muscularis layer and 225 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5H8A4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5H8A4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000174227, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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 it. Competes with PIGO for the binding of PIGF.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120220, 11 interactors

Protein interaction database and analysis system

More...IntActi		Q5H8A4, 9 interactors

Molecular INTeraction database

More...MINTi		Q5H8A4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000415203

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5H8A4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q5H8A4

Database of comparative protein structure models

More...ModBasei		Search...

<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. PIGG subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2125, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00910000144269

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_055386_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5H8A4

KEGG Orthology (KO)

More...KOi		K05310

Identification of Orthologs from Complete Genome Data

More...OMAi		YHLFIYS

Database of Orthologous Groups

More...OrthoDBi		848878at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5H8A4

TreeFam database of animal gene trees

More...TreeFami		TF300609

Family and domain databases

Conserved Domains Database

More...CDDi		cd16024, GPI_EPT_2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017850, Alkaline_phosphatase_core_sf
IPR002591, Phosphodiest/P_Trfase
IPR037674, PIG-G_N
IPR039527, PIGG/GPI7

The PANTHER Classification System

More...PANTHERi		PTHR23072, PTHR23072, 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%5Flength">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 (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5H8A4-1) [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
MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS 
        60         70         80         90        100
AGASSNWTTL PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG 
       110        120        130        140        150
ASHSFVAEAK PPTVTMPRIK ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ 
       160        170        180        190        200
AKAAGKRIVF YGDETWVKLF PKHFVEYDGT TSFFVSDYTE VDNNVTRHLD 
       210        220        230        240        250
KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD SVLMKIHTSL 
       260        270        280        290        300
QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP 
       310        320        330        340        350
GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF 
       360        370        380        390        400
LHLNTVQLSK LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV 
       410        420        430        440        450
LFNLGSKVLR QYLDALKTLS LSLSAQVAQY DIYSMMVGTV VVLEVLTLLL 
       460        470        480        490        500
LSVPQALRRK AELEVPLSSP GFSLLFYLVI LVLSAVHVIV CTSAESSCYF 
       510        520        530        540        550
CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP MHPSSRWSEL 
       560        570        580        590        600
DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG 
       610        620        630        640        650
DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE 
       660        670        680        690        700
KWMVLASPWL ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL 
       710        720        730        740        750
AALSLLVVFV LVQRGCSPVS KAALALGLLG VYCYRAAIGS VRFPWRPDSK 
       760        770        780        790        800
DISKGIIEAR FVYVFVLGIL FTGTKDLLKS QVIAADFKLK TVGLWEIYSG 
       810        820        830        840        850
LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA EITVMHYWFG 
       860        870        880        890        900
QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS 
       910        920        930        940        950
HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV 
       960        970        980 
FSPKLLYEGM HLLITAAVCV FFTAMDQTRL TQS
Length:983
Mass (Da):108,173
Last modified:March 1, 2005 - v1
<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:i18D5DF737B000D2D
GO
Isoform 2 (identifier: Q5H8A4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     437-444: Missing.

Show »
Length:975
Mass (Da):107,376
Checksum:i1D597136E243863E
GO
Isoform 3 (identifier: Q5H8A4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     120-252: Missing.

Show »
Length:850
Mass (Da):93,251
Checksum:i731AF8C6140D36C0
GO
Isoform 4 (identifier: Q5H8A4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     430-463: YDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAEL → FSPCSCSASHRHCTERLSWKSHCHLLGFLCSFIW
     464-983: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:463
Mass (Da):51,267
Checksum:i02EDEEBFE96AC294
GO
Isoform 5 (identifier: Q5H8A4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-89: Missing.
     372-388: DPGFEQFKMSERLHGNW → GSHPAPAQRPTGTAQKG
     389-983: Missing.

Show »
Length:299
Mass (Da):32,913
Checksum:i73D96DB53EA11006
GO
Isoform 6 (identifier: Q5H8A4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.
     430-463: YDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAEL → FSPCSCSASHRHCAERLSWKSHCHLLGFLCSFIW
     464-983: Missing.

Show »
Length:341
Mass (Da):38,290
Checksum:i9DC3B4F0B1EC6633
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EWV1E7EWV1_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
894Annotation score:

Annotation score:2 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>
D6RFE8D6RFE8_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
480Annotation score:

Annotation score:2 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>
E7EM50E7EM50_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
463Annotation score:

Annotation score:2 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>
D6R9J9D6R9J9_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
193Annotation score:

Annotation score:1 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>
D6RD39D6RD39_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
186Annotation score:

Annotation score:1 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>
D6RC16D6RC16_HUMAN
GPI ethanolamine phosphate transfer...
PIGG
24Annotation score:

Annotation score:1 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>

<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 AAQ88902 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence BAA91046 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB55130 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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 conflicti624D → G in BAC11227 (PubMed:16303743).Curated1
Sequence conflicti889F → L in BAC11227 (PubMed:16303743).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05768055S → Y. Corresponds to variant dbSNP:rs34120878EnsemblClinVar.1
Natural variantiVAR_027022458R → H1 PublicationCorresponds to variant dbSNP:rs13115344Ensembl.1
Natural variantiVAR_083080505Missing Unknown pathological significance. 1 Publication1
Natural variantiVAR_083081538K → N Found in SNIBFIS; unknown pathological significance. 1 Publication1
Natural variantiVAR_027023610C → R1 PublicationCorresponds to variant dbSNP:rs7666425Ensembl.1
Natural variantiVAR_076775669R → C in MRT53; found in a compound heterozygote that also carries a microdeletion encompassing PIGG; almost complete loss of ethanolamine phosphate transferase activity, as evidenced by abnormal accumulation of the GPI precursors H7 and H7' and absence of mature GPI precursor H8 in patient lymphocytes; does not affect protein expression levels in transfected HEK293 cells. 1 PublicationCorresponds to variant dbSNP:rs372392424EnsemblClinVar.1
Natural variantiVAR_027024699V → I2 PublicationsCorresponds to variant dbSNP:rs13114026Ensembl.1
Natural variantiVAR_060086731V → I. Corresponds to variant dbSNP:rs34916638EnsemblClinVar.1
Natural variantiVAR_060087881I → T. Corresponds to variant dbSNP:rs34623004Ensembl.1
Natural variantiVAR_027025932F → S. Corresponds to variant dbSNP:rs1127410Ensembl.1

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_0543871 – 122Missing in isoform 6. 1 PublicationAdd BLAST122
Alternative sequenceiVSP_0198271 – 89Missing in isoform 5. 1 PublicationAdd BLAST89
Alternative sequenceiVSP_019828120 – 252Missing in isoform 3. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_019829372 – 388DPGFE…LHGNW → GSHPAPAQRPTGTAQKG in isoform 5. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_019830389 – 983Missing in isoform 5. 1 PublicationAdd BLAST595
Alternative sequenceiVSP_019831430 – 463YDIYS…RKAEL → FSPCSCSASHRHCTERLSWK SHCHLLGFLCSFIW in isoform 4. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_054388430 – 463YDIYS…RKAEL → FSPCSCSASHRHCAERLSWK SHCHLLGFLCSFIW in isoform 6. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_019832437 – 444Missing in isoform 2. 1 Publication8
Alternative sequenceiVSP_019833464 – 983Missing in isoform 4 and isoform 6. 2 PublicationsAdd BLAST520

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB162713 mRNA Translation: BAD89023.1
AY358538 mRNA Translation: AAQ88902.1 Sequence problems.
AK074815 mRNA Translation: BAC11227.1
AK000272 mRNA Translation: BAA91046.1 Different initiation.
AK027465 mRNA Translation: BAB55130.1 Different initiation.
AK097244 mRNA Translation: BAC04984.1
AK296507 mRNA Translation: BAG59139.1
AC092574 Genomic DNA No translation available.
AC116565 Genomic DNA No translation available.
BC000937 mRNA Translation: AAH00937.2
BC001249 mRNA Translation: AAH01249.2
BC110878 mRNA Translation: AAI10879.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3336.1 [Q5H8A4-2]
CCDS46992.1 [Q5H8A4-1]
CCDS75080.1 [Q5H8A4-3]
CCDS75083.1 [Q5H8A4-5]

NCBI Reference Sequences

More...RefSeqi		NP_001120650.1, NM_001127178.2 [Q5H8A4-1]
NP_001275980.1, NM_001289051.1
NP_001275981.1, NM_001289052.1 [Q5H8A4-3]
NP_001275984.1, NM_001289055.1 [Q5H8A4-6]
NP_001275986.1, NM_001289057.1 [Q5H8A4-5]
NP_060203.3, NM_017733.4 [Q5H8A4-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000310340; ENSP00000311750; ENSG00000174227 [Q5H8A4-2]
ENST00000383028; ENSP00000372494; ENSG00000174227 [Q5H8A4-3]
ENST00000453061; ENSP00000415203; ENSG00000174227 [Q5H8A4-1]
ENST00000503111; ENSP00000426002; ENSG00000174227 [Q5H8A4-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54872

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54872

UCSC genome browser

More...UCSCi		uc003gaj.6, human [Q5H8A4-1]

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
AB162713 mRNA Translation: BAD89023.1
AY358538 mRNA Translation: AAQ88902.1 Sequence problems.
AK074815 mRNA Translation: BAC11227.1
AK000272 mRNA Translation: BAA91046.1 Different initiation.
AK027465 mRNA Translation: BAB55130.1 Different initiation.
AK097244 mRNA Translation: BAC04984.1
AK296507 mRNA Translation: BAG59139.1
AC092574 Genomic DNA No translation available.
AC116565 Genomic DNA No translation available.
BC000937 mRNA Translation: AAH00937.2
BC001249 mRNA Translation: AAH01249.2
BC110878 mRNA Translation: AAI10879.1
CCDSiCCDS3336.1 [Q5H8A4-2]
CCDS46992.1 [Q5H8A4-1]
CCDS75080.1 [Q5H8A4-3]
CCDS75083.1 [Q5H8A4-5]
RefSeqiNP_001120650.1, NM_001127178.2 [Q5H8A4-1]
NP_001275980.1, NM_001289051.1
NP_001275981.1, NM_001289052.1 [Q5H8A4-3]
NP_001275984.1, NM_001289055.1 [Q5H8A4-6]
NP_001275986.1, NM_001289057.1 [Q5H8A4-5]
NP_060203.3, NM_017733.4 [Q5H8A4-2]

3D structure databases

SMRiQ5H8A4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi120220, 11 interactors
IntActiQ5H8A4, 9 interactors
MINTiQ5H8A4
STRINGi9606.ENSP00000415203

PTM databases

GlyGeniQ5H8A4, 1 site
iPTMnetiQ5H8A4
PhosphoSitePlusiQ5H8A4

Polymorphism and mutation databases

BioMutaiPIGG
DMDMi74707851

Proteomic databases

jPOSTiQ5H8A4
MassIVEiQ5H8A4
MaxQBiQ5H8A4
PaxDbiQ5H8A4
PeptideAtlasiQ5H8A4
PRIDEiQ5H8A4
ProteomicsDBi4448
62844 [Q5H8A4-1]
62845 [Q5H8A4-2]
62846 [Q5H8A4-3]
62847 [Q5H8A4-4]
62848 [Q5H8A4-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3105, 10 antibodies

Genome annotation databases

EnsembliENST00000310340; ENSP00000311750; ENSG00000174227 [Q5H8A4-2]
ENST00000383028; ENSP00000372494; ENSG00000174227 [Q5H8A4-3]
ENST00000453061; ENSP00000415203; ENSG00000174227 [Q5H8A4-1]
ENST00000503111; ENSP00000426002; ENSG00000174227 [Q5H8A4-5]
GeneIDi54872
KEGGihsa:54872
UCSCiuc003gaj.6, human [Q5H8A4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54872
DisGeNETi54872
EuPathDBiHostDB:ENSG00000174227.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGG
HGNCiHGNC:25985, PIGG
HPAiENSG00000174227, Low tissue specificity
MalaCardsiPIGG
MIMi616917, phenotype
616918, gene
neXtProtiNX_Q5H8A4
OpenTargetsiENSG00000174227
Orphaneti488635, Early-onset epilepsy-intellectual disability-brain anomalies syndrome
PharmGKBiPA143485575

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2125, Eukaryota
GeneTreeiENSGT00910000144269
HOGENOMiCLU_055386_0_0_1
InParanoidiQ5H8A4
KOiK05310
OMAiYHLFIYS
OrthoDBi848878at2759
PhylomeDBiQ5H8A4
TreeFamiTF300609

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ5H8A4
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)
SIGNORiQ5H8A4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54872, 6 hits in 870 CRISPR screens

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

More...ChiTaRSi		PIGG, human

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

More...GenomeRNAii		54872
PharosiQ5H8A4, Tbio

Protein Ontology

More...PROi		PR:Q5H8A4
RNActiQ5H8A4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174227, Expressed in lower esophagus muscularis layer and 225 other tissues
ExpressionAtlasiQ5H8A4, baseline and differential
GenevisibleiQ5H8A4, HS

Family and domain databases

CDDicd16024, GPI_EPT_2, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017850, Alkaline_phosphatase_core_sf
IPR002591, Phosphodiest/P_Trfase
IPR037674, PIG-G_N
IPR039527, PIGG/GPI7
PANTHERiPTHR23072, PTHR23072, 1 hit
PfamiView protein in Pfam
PF01663, Phosphodiest, 1 hit
SUPFAMiSSF53649, SSF53649, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiPIGG_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: Q5H8A4
Secondary accession number(s): B4DKC7
, Q2TAK5, Q6UX31, Q7L5Y4, Q8N866, Q8NCC9, Q96SY9, Q9BVT7, Q9NXG5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: March 1, 2005
Last modified: October 7, 2020
This is version 132 of the entry and version 1 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

Reference proteome

Documents

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