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UniProtKB - Q969N2 (PIGT_HUMAN)

Entry version 165 (10 Feb 2021)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

GPI transamidase component PIG-T

Gene

PIGT

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

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.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 - 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

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q969N2

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-162791, Attachment of GPI anchor to uPAR

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 transamidase component PIG-T
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class T protein
<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:PIGT
ORF Names:CGI-06, PSEC0163, UNQ716/PRO1379
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14938, PIGT

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610272, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q969N2

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000124155.16

<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 domaini22 – 527LumenalSequence analysisAdd BLAST506
<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>Transmembranei528 – 548HelicalSequence analysisAdd BLAST21
Topological domaini549 – 578CytoplasmicSequence analysisAdd BLAST30

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

Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes.
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_070448183T → P in MCAHS3; flow cytometric analysis of patient granulocytes and monocytes show decreased amounts of GPI-anchored proteins CD16B and CD59 compared to controls. 1 PublicationCorresponds to variant dbSNP:rs587777027EnsemblClinVar.1
Paroxysmal nocturnal hemoglobinuria 2 (PNH2)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi182C → S: Decrease in activity. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		51604

MalaCards human disease database

More...MalaCardsi		PIGT
MIMi615398, phenotype
615399, phenotype

Open Targets

More...OpenTargetsi		ENSG00000124155

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

More...Orphaneti		369837, Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33302

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q969N2, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGT

Domain mapping of disease mutations (DMDM)

More...DMDMi		44888284

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 211 PublicationAdd BLAST21
<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_000002410722 – 578GPI transamidase component PIG-TAdd BLAST557

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>Glycosylationi164N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi182Interchain (with C-92 in PIGK/GPI8)1 Publication
Glycosylationi291N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi327N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1499

Encyclopedia of Proteome Dynamics

More...EPDi		Q969N2

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q969N2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q969N2

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q969N2

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

More...PaxDbi		Q969N2

PeptideAtlas

More...PeptideAtlasi		Q969N2

PRoteomics IDEntifications database

More...PRIDEi		Q969N2

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		34213
75800 [Q969N2-1]
75801 [Q969N2-2]
75802 [Q969N2-3]
75803 [Q969N2-4]
75804 [Q969N2-5]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1286, 2 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q969N2, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q969N2

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

More...PhosphoSitePlusi		Q969N2

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q969N2

<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		ENSG00000124155, Expressed in heart and 116 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q969N2, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q969N2, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000124155, 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 PIGK/GPI8, PIGS, PIGU and GPAA1/GAA1. Has a critical role in maintaining the complex by stabilizing the expression of GPAA1 and GPI8 and linking them to PIGS.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119633, 60 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q969N2

Protein interaction database and analysis system

More...IntActi		Q969N2, 47 interactors

Molecular INTeraction database

More...MINTi		Q969N2

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000279036

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q969N2, protein

<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 PIGT family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2407, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000018558

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021459_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q969N2

Identification of Orthologs from Complete Genome Data

More...OMAi		DANHGHY

Database of Orthologous Groups

More...OrthoDBi		887370at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q969N2

TreeFam database of animal gene trees

More...TreeFami		TF105921

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007245, PIG-T

The PANTHER Classification System

More...PANTHERi		PTHR12959, PTHR12959, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04113, Gpi16, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 41 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q969N2-1) [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
MAAAMPLALL VLLLLGPGGW CLAEPPRDSL REELVITPLP SGDVAATFQF 
        60         70         80         90        100
RTRWDSELQR EGVSHYRLFP KALGQLISKY SLRELHLSFT QGFWRTRYWG 
       110        120        130        140        150
PPFLQAPSGA ELWVWFQDTV TDVDKSWKEL SNVLSGIFCA SLNFIDSTNT 
       160        170        180        190        200
VTPTASFKPL GLANDTDHYF LRYAVLPREV VCTENLTPWK KLLPCSSKAG 
       210        220        230        240        250
LSVLLKADRL FHTSYHSQAV HIRPVCRNAR CTSISWELRQ TLSVVFDAFI 
       260        270        280        290        300
TGQGKKDWSL FRMFSRTLTE PCPLASESRV YVDITTYNQD NETLEVHPPP 
       310        320        330        340        350
TTTYQDVILG TRKTYAIYDL LDTAMINNSR NLNIQLKWKR PPENEAPPVP 
       360        370        380        390        400
FLHAQRYVSG YGLQKGELST LLYNTHPYRA FPVLLLDTVP WYLRLYVHTL 
       410        420        430        440        450
TITSKGKENK PSYIHYQPAQ DRLQPHLLEM LIQLPANSVT KVSIQFERAL 
       460        470        480        490        500
LKWTEYTPDP NHGFYVSPSV LSALVPSMVA AKPVDWEESP LFNSLFPVSD 
       510        520        530        540        550
GSNYFVRLYT EPLLVNLPTP DFSMPYNVIC LTCTVVAVCY GSFYNLLTRT 
       560        570 
FHIEEPRTGG LAKRLANLIR RARGVPPL
Length:578
Mass (Da):65,700
Last modified:December 1, 2001 - 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:iAC7865160CFBCBBA
GO
Isoform 2 (identifier: Q969N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-256: Missing.

Show »
Length:384
Mass (Da):43,616
Checksum:iAC75FF3BD9DCB0C2
GO
Isoform 3 (identifier: Q969N2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-144: Missing.
     145-164: IDSTNTVTPTASFKPLGLAN → MWIPRGQSPRPTPDRPLSPS
     345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G

Note: May be due to intron retention.Curated
Show »
Length:367
Mass (Da):41,905
Checksum:iD31A0D75D51AB651
GO
Isoform 4 (identifier: Q969N2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     63-164: Missing.

Show »
Length:476
Mass (Da):54,118
Checksum:i18A9624936EB7553
GO
Isoform 5 (identifier: Q969N2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     109-164: Missing.

Show »
Length:522
Mass (Da):59,582
Checksum:i5085BEC6CC7D5B88
GO
Isoform 6 (identifier: Q969N2-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     345-412: EAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPS → G

Show »
Length:511
Mass (Da):57,988
Checksum:iEC1AB6BA095A9D23
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 41 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PNP0A0A1W2PNP0_HUMAN
GPI transamidase component PIG-T
PIGT
580Annotation 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>
A0A1W2PQ52A0A1W2PQ52_HUMAN
GPI transamidase component PIG-T
PIGT
318Annotation 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>
A0A1W2PNS2A0A1W2PNS2_HUMAN
GPI transamidase component PIG-T
PIGT
183Annotation 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>
A0A1W2PRV7A0A1W2PRV7_HUMAN
GPI transamidase component PIG-T
PIGT
331Annotation 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>
A0A1W2PP53A0A1W2PP53_HUMAN
GPI transamidase component PIG-T
PIGT
441Annotation 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>
A0A1W2PP98A0A1W2PP98_HUMAN
GPI transamidase component PIG-T
PIGT
191Annotation 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>
A0A1W2PRZ8A0A1W2PRZ8_HUMAN
GPI transamidase component PIG-T
PIGT
429Annotation 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>
A0A1W2PPR6A0A1W2PPR6_HUMAN
GPI transamidase component PIG-T
PIGT
532Annotation 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>
A0A1W2PSC5A0A1W2PSC5_HUMAN
GPI transamidase component PIG-T
PIGT
128Annotation 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>
A0A1W2PRL6A0A1W2PRL6_HUMAN
GPI transamidase component PIG-T
PIGT
171Annotation 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>
There are more potential isoformsShow all

<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 AAD27715 differs from that shown. Reason: Frameshift.Curated
The sequence AAQ88951 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB57341 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070448183T → P in MCAHS3; flow cytometric analysis of patient granulocytes and monocytes show decreased amounts of GPI-anchored proteins CD16B and CD59 compared to controls. 1 PublicationCorresponds to variant dbSNP:rs587777027EnsemblClinVar.1
Natural variantiVAR_053583473A → T. Corresponds to variant dbSNP:rs36056071EnsemblClinVar.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_0095361 – 144Missing in isoform 3. 1 PublicationAdd BLAST144
Alternative sequenceiVSP_00953763 – 256Missing in isoform 2. CuratedAdd BLAST194
Alternative sequenceiVSP_00953863 – 164Missing in isoform 4. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_043167109 – 164Missing in isoform 5. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_009539145 – 164IDSTN…LGLAN → MWIPRGQSPRPTPDRPLSPS in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_009540345 – 412EAPPV…ENKPS → G in isoform 3 and isoform 6. 2 PublicationsAdd BLAST68

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
AB057724 mRNA Translation: BAB60854.1
AK296139 mRNA Translation: BAH12267.1
AK302093 mRNA Translation: BAH13624.1
AK075469 mRNA Translation: BAC11639.1
AK225517 mRNA No translation available.
BX537612 mRNA Translation: CAD97799.1
AL121742 mRNA Translation: CAB57341.1 Different initiation.
AL021578 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75844.1
CH471077 Genomic DNA Translation: EAW75845.1
CH471077 Genomic DNA Translation: EAW75846.1
BC015022 mRNA Translation: AAH15022.3
BC110892 mRNA Translation: AAI10893.1
BC136827 mRNA Translation: AAI36828.1
BC136828 mRNA Translation: AAI36829.1
AY358588 mRNA Translation: AAQ88951.1 Different initiation.
AF132940 mRNA Translation: AAD27715.1 Frameshift.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13353.1 [Q969N2-1]
CCDS54464.1 [Q969N2-5]
CCDS54465.1 [Q969N2-6]
CCDS54466.1 [Q969N2-4]

NCBI Reference Sequences

More...RefSeqi		NP_001171657.1, NM_001184728.2 [Q969N2-5]
NP_001171658.1, NM_001184729.2 [Q969N2-6]
NP_001171659.1, NM_001184730.2 [Q969N2-4]
NP_057021.2, NM_015937.5 [Q969N2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000279035; ENSP00000279035; ENSG00000124155 [Q969N2-4]
ENST00000279036; ENSP00000279036; ENSG00000124155 [Q969N2-1]
ENST00000372689; ENSP00000361774; ENSG00000124155 [Q969N2-6]
ENST00000543458; ENSP00000441577; ENSG00000124155 [Q969N2-5]
ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51604

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51604

UCSC genome browser

More...UCSCi		uc002xoh.4, human [Q969N2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB057724 mRNA Translation: BAB60854.1
AK296139 mRNA Translation: BAH12267.1
AK302093 mRNA Translation: BAH13624.1
AK075469 mRNA Translation: BAC11639.1
AK225517 mRNA No translation available.
BX537612 mRNA Translation: CAD97799.1
AL121742 mRNA Translation: CAB57341.1 Different initiation.
AL021578 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75844.1
CH471077 Genomic DNA Translation: EAW75845.1
CH471077 Genomic DNA Translation: EAW75846.1
BC015022 mRNA Translation: AAH15022.3
BC110892 mRNA Translation: AAI10893.1
BC136827 mRNA Translation: AAI36828.1
BC136828 mRNA Translation: AAI36829.1
AY358588 mRNA Translation: AAQ88951.1 Different initiation.
AF132940 mRNA Translation: AAD27715.1 Frameshift.
CCDSiCCDS13353.1 [Q969N2-1]
CCDS54464.1 [Q969N2-5]
CCDS54465.1 [Q969N2-6]
CCDS54466.1 [Q969N2-4]
RefSeqiNP_001171657.1, NM_001184728.2 [Q969N2-5]
NP_001171658.1, NM_001184729.2 [Q969N2-6]
NP_001171659.1, NM_001184730.2 [Q969N2-4]
NP_057021.2, NM_015937.5 [Q969N2-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi119633, 60 interactors
CORUMiQ969N2
IntActiQ969N2, 47 interactors
MINTiQ969N2
STRINGi9606.ENSP00000279036

PTM databases

GlyConnecti1286, 2 N-Linked glycans (1 site)
GlyGeniQ969N2, 4 sites
iPTMnetiQ969N2
PhosphoSitePlusiQ969N2
SwissPalmiQ969N2

Genetic variation databases

BioMutaiPIGT
DMDMi44888284

Proteomic databases

CPTACiCPTAC-1499
EPDiQ969N2
jPOSTiQ969N2
MassIVEiQ969N2
MaxQBiQ969N2
PaxDbiQ969N2
PeptideAtlasiQ969N2
PRIDEiQ969N2
ProteomicsDBi34213
75800 [Q969N2-1]
75801 [Q969N2-2]
75802 [Q969N2-3]
75803 [Q969N2-4]
75804 [Q969N2-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27619, 144 antibodies

Genome annotation databases

EnsembliENST00000279035; ENSP00000279035; ENSG00000124155 [Q969N2-4]
ENST00000279036; ENSP00000279036; ENSG00000124155 [Q969N2-1]
ENST00000372689; ENSP00000361774; ENSG00000124155 [Q969N2-6]
ENST00000543458; ENSP00000441577; ENSG00000124155 [Q969N2-5]
ENST00000545755; ENSP00000443963; ENSG00000124155 [Q969N2-2]
GeneIDi51604
KEGGihsa:51604
UCSCiuc002xoh.4, human [Q969N2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51604
DisGeNETi51604

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGT
HGNCiHGNC:14938, PIGT
HPAiENSG00000124155, Low tissue specificity
MalaCardsiPIGT
MIMi610272, gene
615398, phenotype
615399, phenotype
neXtProtiNX_Q969N2
OpenTargetsiENSG00000124155
Orphaneti369837, Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
PharmGKBiPA33302
VEuPathDBiHostDB:ENSG00000124155.16

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2407, Eukaryota
GeneTreeiENSGT00390000018558
HOGENOMiCLU_021459_0_1_1
InParanoidiQ969N2
OMAiDANHGHY
OrthoDBi887370at2759
PhylomeDBiQ969N2
TreeFamiTF105921

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ969N2
ReactomeiR-HSA-162791, Attachment of GPI anchor to uPAR

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51604, 11 hits in 874 CRISPR screens

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

More...ChiTaRSi		PIGT, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGT

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

More...GenomeRNAii		51604
PharosiQ969N2, Tbio

Protein Ontology

More...PROi		PR:Q969N2
RNActiQ969N2, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124155, Expressed in heart and 116 other tissues
ExpressionAtlasiQ969N2, baseline and differential
GenevisibleiQ969N2, HS

Family and domain databases

InterProiView protein in InterPro
IPR007245, PIG-T
PANTHERiPTHR12959, PTHR12959, 1 hit
PfamiView protein in Pfam
PF04113, Gpi16, 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 nameiPIGT_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: Q969N2
Secondary accession number(s): B2RND5
, B7Z3N1, B7Z7I8, E1P622, G8JLF5, Q2NL69, Q7Z3N7, Q9BQY7, Q9BQY8, Q9UJG6, Q9Y2Z5
<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: March 1, 2004
Last sequence update: December 1, 2001
Last modified: February 10, 2021
This is version 165 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

Direct protein sequencing, Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. Human entries with genetic variants
    List of human entries with genetic variants
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