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UniProtKB - Q96S52 (PIGS_HUMAN)

Entry version 145 (12 Aug 2020)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
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Protein

GPI transamidase component PIG-S

Gene

PIGS

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.2 Publications

<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.1 Publication
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

  • attachment of GPI anchor to protein Source: UniProtKB
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		Q96S52

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-S
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class S 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:PIGS
ORF Names:UNQ1873/PRO4316
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000087111.20

Human Gene Nomenclature Database

More...HGNCi		HGNC:14937, PIGS

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610271, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96S52

<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 domaini2 – 18CytoplasmicSequence analysisAdd BLAST17
<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>Transmembranei19 – 39HelicalSequence analysisAdd BLAST21
Topological domaini40 – 520LumenalSequence analysisAdd BLAST481
Transmembranei521 – 541HelicalSequence analysisAdd BLAST21
Topological domaini542 – 555CytoplasmicSequence analysisAdd BLAST14

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

Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features.
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_08157934L → P in GPIBD18; partial loss of function; when tested in PIGS-knockout cells, mediates partial restoration of GPI-anchored protein expression at the cell surface. 1 Publication1
Natural variantiVAR_08158036 – 555Missing in GPIBD18; almost complete loss of function; when tested in PIGS-knockout cells, mediates only very partial restoration of GPI-anchored protein expression at the cell surface; strong decrease in protein level, possibly due to nonsense-mediated mRNA decay. 1 PublicationAdd BLAST520
Natural variantiVAR_081581308E → G in GPIBD18. 1 PublicationCorresponds to variant dbSNP:rs1426262136EnsemblClinVar.1
Natural variantiVAR_081582439 – 451TTTLT…QLLGK → RLL in GPIBD18; unknown pathological significance. 1 PublicationAdd BLAST13

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		94005

MalaCards human disease database

More...MalaCardsi		PIGS
MIMi618143, phenotype

Open Targets

More...OpenTargetsi		ENSG00000087111

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33301

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96S52, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGS

Domain mapping of disease mutations (DMDM)

More...DMDMi		21759353

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00002186042 – 555GPI transamidase component PIG-SAdd BLAST554

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>Glycosylationi267N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi370N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96S52

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96S52

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96S52

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96S52

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

More...PaxDbi		Q96S52

PeptideAtlas

More...PeptideAtlasi		Q96S52

PRoteomics IDEntifications database

More...PRIDEi		Q96S52

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78065 [Q96S52-1]
78066 [Q96S52-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1285, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96S52, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96S52

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

More...PhosphoSitePlusi		Q96S52

<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		ENSG00000087111, Expressed in heart left ventricle and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96S52, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96S52, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000087111, 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, PIGT, PIGU and GAA1.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125082, 56 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96S52

Protein interaction database and analysis system

More...IntActi		Q96S52, 39 interactors

Molecular INTeraction database

More...MINTi		Q96S52

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000309430

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96S52, 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 PIGS family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2459, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017203

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010026_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96S52

KEGG Orthology (KO)

More...KOi		K05291

Identification of Orthologs from Complete Genome Data

More...OMAi		FVNAAEW

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96S52

TreeFam database of animal gene trees

More...TreeFami		TF105857

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR019540, PtdIno-glycan_biosynth_class_S

The PANTHER Classification System

More...PANTHERi		PTHR21072, PTHR21072, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10510, PIG-S, 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 (2+)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 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. 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 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96S52-1) [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
MAAAGAAATH LEVARGKRAA LFFAAVAIVL GLPLWWKTTE TYRASLPYSQ 
        60         70         80         90        100
ISGLNALQLR LMVPVTVVFT RESVPLDDQE KLPFTVVHER EIPLKYKMKI 
       110        120        130        140        150
KCRFQKAYRR ALDHEEEALS SGSVQEAEAM LDEPQEQAEG SLTVYVISEH 
       160        170        180        190        200
SSLLPQDMMS YIGPKRTAVV RGIMHREAFN IIGRRIVQVA QAMSLTEDVL 
       210        220        230        240        250
AAALADHLPE DKWSAEKRRP LKSSLGYEIT FSLLNPDPKS HDVYWDIEGA 
       260        270        280        290        300
VRRYVQPFLN ALGAAGNFSV DSQILYYAML GVNPRFDSAS SSYYLDMHSL 
       310        320        330        340        350
PHVINPVESR LGSSAASLYP VLNFLLYVPE LAHSPLYIQD KDGAPVATNA 
       360        370        380        390        400
FHSPRWGGIM VYNVDSKTYN ASVLPVRVEV DMVRVMEVFL AQLRLLFGIA 
       410        420        430        440        450
QPQLPPKCLL SGPTSEGLMT WELDRLLWAR SVENLATATT TLTSLAQLLG 
       460        470        480        490        500
KISNIVIKDD VASEVYKAVA AVQKSAEELA SGHLASAFVA SQEAVTSSEL 
       510        520        530        540        550
AFFDPSLLHL LYFPDDQKFA IYIPLFLPMA VPILLSLVKI FLETRKSWRK 

PEKTD
Length:555
Mass (Da):61,656
Last modified:January 23, 2007 - 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:iA20B323C5475EF4F
GO
Isoform 2 (identifier: Q96S52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MAAAGAAATHL → MPS

Show »
Length:547
Mass (Da):61,005
Checksum:iFE15DAA8222209B8
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EN97K7EN97_HUMAN
GPI transamidase component PIG-S
PIGS
116Annotation 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>
H0Y2N5H0Y2N5_HUMAN
GPI transamidase component PIG-S
PIGS
41Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08157934L → P in GPIBD18; partial loss of function; when tested in PIGS-knockout cells, mediates partial restoration of GPI-anchored protein expression at the cell surface. 1 Publication1
Natural variantiVAR_08158036 – 555Missing in GPIBD18; almost complete loss of function; when tested in PIGS-knockout cells, mediates only very partial restoration of GPI-anchored protein expression at the cell surface; strong decrease in protein level, possibly due to nonsense-mediated mRNA decay. 1 PublicationAdd BLAST520
Natural variantiVAR_036510159M → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_053582253R → H. Corresponds to variant dbSNP:rs34669811Ensembl.1
Natural variantiVAR_081581308E → G in GPIBD18. 1 PublicationCorresponds to variant dbSNP:rs1426262136EnsemblClinVar.1
Natural variantiVAR_081582439 – 451TTTLT…QLLGK → RLL in GPIBD18; unknown pathological significance. 1 PublicationAdd BLAST13

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_0131581 – 11MAAAGAAATHL → MPS in isoform 2. 1 PublicationAdd BLAST11

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
AB057723 mRNA Translation: BAB60853.1
AY359112 mRNA Translation: AAQ89470.1
BC069228 mRNA Translation: AAH69228.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11235.1 [Q96S52-1]

NCBI Reference Sequences

More...RefSeqi		NP_149975.1, NM_033198.3 [Q96S52-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000308360; ENSP00000309430; ENSG00000087111 [Q96S52-1]
ENST00000395346; ENSP00000378755; ENSG00000087111 [Q96S52-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		94005

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:94005

UCSC genome browser

More...UCSCi		uc002hbn.3, human [Q96S52-1]

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
AB057723 mRNA Translation: BAB60853.1
AY359112 mRNA Translation: AAQ89470.1
BC069228 mRNA Translation: AAH69228.1
CCDSiCCDS11235.1 [Q96S52-1]
RefSeqiNP_149975.1, NM_033198.3 [Q96S52-1]

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

BioGRIDi125082, 56 interactors
CORUMiQ96S52
IntActiQ96S52, 39 interactors
MINTiQ96S52
STRINGi9606.ENSP00000309430

PTM databases

GlyConnecti1285, 1 N-Linked glycan (1 site)
GlyGeniQ96S52, 2 sites
iPTMnetiQ96S52
PhosphoSitePlusiQ96S52

Polymorphism and mutation databases

BioMutaiPIGS
DMDMi21759353

Proteomic databases

EPDiQ96S52
jPOSTiQ96S52
MassIVEiQ96S52
MaxQBiQ96S52
PaxDbiQ96S52
PeptideAtlasiQ96S52
PRIDEiQ96S52
ProteomicsDBi78065 [Q96S52-1]
78066 [Q96S52-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2984, 112 antibodies

Genome annotation databases

EnsembliENST00000308360; ENSP00000309430; ENSG00000087111 [Q96S52-1]
ENST00000395346; ENSP00000378755; ENSG00000087111 [Q96S52-2]
GeneIDi94005
KEGGihsa:94005
UCSCiuc002hbn.3, human [Q96S52-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		94005
DisGeNETi94005
EuPathDBiHostDB:ENSG00000087111.20

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGS
HGNCiHGNC:14937, PIGS
HPAiENSG00000087111, Low tissue specificity
MalaCardsiPIGS
MIMi610271, gene
618143, phenotype
neXtProtiNX_Q96S52
OpenTargetsiENSG00000087111
PharmGKBiPA33301

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2459, Eukaryota
GeneTreeiENSGT00390000017203
HOGENOMiCLU_010026_3_0_1
InParanoidiQ96S52
KOiK05291
OMAiFVNAAEW
PhylomeDBiQ96S52
TreeFamiTF105857

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ96S52
ReactomeiR-HSA-162791, Attachment of GPI anchor to uPAR

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		94005, 72 hits in 875 CRISPR screens

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

More...ChiTaRSi		PIGS, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGS_(gene)

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

More...GenomeRNAii		94005
PharosiQ96S52, Tdark

Protein Ontology

More...PROi		PR:Q96S52
RNActiQ96S52, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000087111, Expressed in heart left ventricle and 118 other tissues
ExpressionAtlasiQ96S52, baseline and differential
GenevisibleiQ96S52, HS

Family and domain databases

InterProiView protein in InterPro
IPR019540, PtdIno-glycan_biosynth_class_S
PANTHERiPTHR21072, PTHR21072, 1 hit
PfamiView protein in Pfam
PF10510, PIG-S, 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 nameiPIGS_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: Q96S52
Secondary accession number(s): Q6UVX6
<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 11, 2002
Last sequence update: January 23, 2007
Last modified: August 12, 2020
This is version 145 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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