UniProtKB - Q96S52 (PIGS_HUMAN)
GPI transamidase component PIG-S
PIGS
Functioni
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
2 Publications: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.
GO - Biological processi
- attachment of GPI anchor to protein Source: GO_Central
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | Q96S52 |
Reactomei | R-HSA-162791, Attachment of GPI anchor to uPAR |
SignaLinki | Q96S52 |
SIGNORi | Q96S52 |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: GPI transamidase component PIG-SAlternative name(s): Phosphatidylinositol-glycan biosynthesis class S protein |
Gene namesi | Name:PIGS ORF Names:UNQ1873/PRO4316 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14937, PIGS |
MIMi | 610271, gene |
neXtProti | NX_Q96S52 |
VEuPathDBi | HostDB:ENSG00000087111 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
- GPI-anchor transamidase complex Source: UniProtKB
Other locations
- membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 2 – 18 | CytoplasmicSequence analysisAdd BLAST | 17 | |
Transmembranei | 19 – 39 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 40 – 520 | LumenalSequence analysisAdd BLAST | 481 | |
Transmembranei | 521 – 541 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 542 – 555 | CytoplasmicSequence analysisAdd BLAST | 14 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081579 | 34 | L → 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 PublicationCorresponds to variant dbSNP:rs1567618413EnsemblClinVar. | 1 | |
Natural variantiVAR_081580 | 36 – 555 | Missing 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 BLAST | 520 | |
Natural variantiVAR_081581 | 308 | E → G in GPIBD18. 1 PublicationCorresponds to variant dbSNP:rs1426262136EnsemblClinVar. | 1 | |
Natural variantiVAR_081582 | 439 – 451 | TTTLT…QLLGK → RLL in GPIBD18; unknown pathological significance. 1 PublicationAdd BLAST | 13 |
Keywords - Diseasei
Disease variant, EpilepsyOrganism-specific databases
DisGeNETi | 94005 |
MalaCardsi | PIGS |
MIMi | 618143, phenotype |
OpenTargetsi | ENSG00000087111 |
PharmGKBi | PA33301 |
Miscellaneous databases
Pharosi | Q96S52, Tdark |
Genetic variation databases
BioMutai | PIGS |
DMDMi | 21759353 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000218604 | 2 – 555 | GPI transamidase component PIG-SAdd BLAST | 554 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 267 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 370 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q96S52 |
jPOSTi | Q96S52 |
MassIVEi | Q96S52 |
MaxQBi | Q96S52 |
PaxDbi | Q96S52 |
PeptideAtlasi | Q96S52 |
PRIDEi | Q96S52 |
ProteomicsDBi | 78065 [Q96S52-1] 78066 [Q96S52-2] |
PTM databases
GlyConnecti | 1285, 1 N-Linked glycan (1 site) |
GlyGeni | Q96S52, 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | Q96S52 |
PhosphoSitePlusi | Q96S52 |
Expressioni
Gene expression databases
Bgeei | ENSG00000087111, Expressed in heart left ventricle and 119 other tissues |
ExpressionAtlasi | Q96S52, baseline and differential |
Genevisiblei | Q96S52, HS |
Organism-specific databases
HPAi | ENSG00000087111, Low tissue specificity |
Interactioni
Subunit structurei
Forms a complex with PIGK/GPI8, PIGT, PIGU and GAA1.
1 PublicationBinary interactionsi
Q96S52
Protein-protein interaction databases
BioGRIDi | 125082, 119 interactors |
CORUMi | Q96S52 |
IntActi | Q96S52, 41 interactors |
MINTi | Q96S52 |
STRINGi | 9606.ENSP00000309430 |
Miscellaneous databases
RNActi | Q96S52, protein |
Structurei
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2459, Eukaryota |
GeneTreei | ENSGT00390000017203 |
HOGENOMi | CLU_010026_3_0_1 |
InParanoidi | Q96S52 |
OMAi | FVNAAEW |
PhylomeDBi | Q96S52 |
TreeFami | TF105857 |
Family and domain databases
InterProi | View protein in InterPro IPR019540, PtdIno-glycan_biosynth_class_S |
PANTHERi | PTHR21072, PTHR21072, 1 hit |
Pfami | View protein in Pfam PF10510, PIG-S, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EN97 | K7EN97_HUMAN | GPI transamidase component PIG-S | PIGS | 116 | Annotation score: | ||
H0Y2N5 | H0Y2N5_HUMAN | GPI transamidase component PIG-S | PIGS | 41 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081579 | 34 | L → 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 PublicationCorresponds to variant dbSNP:rs1567618413EnsemblClinVar. | 1 | |
Natural variantiVAR_081580 | 36 – 555 | Missing 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 BLAST | 520 | |
Natural variantiVAR_036510 | 159 | M → I in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_053582 | 253 | R → H. Corresponds to variant dbSNP:rs34669811EnsemblClinVar. | 1 | |
Natural variantiVAR_081581 | 308 | E → G in GPIBD18. 1 PublicationCorresponds to variant dbSNP:rs1426262136EnsemblClinVar. | 1 | |
Natural variantiVAR_081582 | 439 – 451 | TTTLT…QLLGK → RLL in GPIBD18; unknown pathological significance. 1 PublicationAdd BLAST | 13 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_013158 | 1 – 11 | MAAAGAAATHL → MPS in isoform 2. 1 PublicationAdd BLAST | 11 |
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 |
CCDSi | CCDS11235.1 [Q96S52-1] |
RefSeqi | NP_149975.1, NM_033198.3 [Q96S52-1] |
Genome annotation databases
Ensembli | ENST00000308360; ENSP00000309430; ENSG00000087111 ENST00000395346; ENSP00000378755; ENSG00000087111 [Q96S52-2] |
GeneIDi | 94005 |
KEGGi | hsa:94005 |
MANE-Selecti | ENST00000308360.8; ENSP00000309430.7; NM_033198.4; NP_149975.1 |
UCSCi | uc002hbn.3, human [Q96S52-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS11235.1 [Q96S52-1] |
RefSeqi | NP_149975.1, NM_033198.3 [Q96S52-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 125082, 119 interactors |
CORUMi | Q96S52 |
IntActi | Q96S52, 41 interactors |
MINTi | Q96S52 |
STRINGi | 9606.ENSP00000309430 |
PTM databases
GlyConnecti | 1285, 1 N-Linked glycan (1 site) |
GlyGeni | Q96S52, 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site) |
iPTMneti | Q96S52 |
PhosphoSitePlusi | Q96S52 |
Genetic variation databases
BioMutai | PIGS |
DMDMi | 21759353 |
Proteomic databases
EPDi | Q96S52 |
jPOSTi | Q96S52 |
MassIVEi | Q96S52 |
MaxQBi | Q96S52 |
PaxDbi | Q96S52 |
PeptideAtlasi | Q96S52 |
PRIDEi | Q96S52 |
ProteomicsDBi | 78065 [Q96S52-1] 78066 [Q96S52-2] |
Protocols and materials databases
Antibodypediai | 2984, 118 antibodies from 24 providers |
DNASUi | 94005 |
Genome annotation databases
Ensembli | ENST00000308360; ENSP00000309430; ENSG00000087111 ENST00000395346; ENSP00000378755; ENSG00000087111 [Q96S52-2] |
GeneIDi | 94005 |
KEGGi | hsa:94005 |
MANE-Selecti | ENST00000308360.8; ENSP00000309430.7; NM_033198.4; NP_149975.1 |
UCSCi | uc002hbn.3, human [Q96S52-1] |
Organism-specific databases
CTDi | 94005 |
DisGeNETi | 94005 |
GeneCardsi | PIGS |
HGNCi | HGNC:14937, PIGS |
HPAi | ENSG00000087111, Low tissue specificity |
MalaCardsi | PIGS |
MIMi | 610271, gene 618143, phenotype |
neXtProti | NX_Q96S52 |
OpenTargetsi | ENSG00000087111 |
PharmGKBi | PA33301 |
VEuPathDBi | HostDB:ENSG00000087111 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2459, Eukaryota |
GeneTreei | ENSGT00390000017203 |
HOGENOMi | CLU_010026_3_0_1 |
InParanoidi | Q96S52 |
OMAi | FVNAAEW |
PhylomeDBi | Q96S52 |
TreeFami | TF105857 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
PathwayCommonsi | Q96S52 |
Reactomei | R-HSA-162791, Attachment of GPI anchor to uPAR |
SignaLinki | Q96S52 |
SIGNORi | Q96S52 |
Miscellaneous databases
BioGRID-ORCSi | 94005, 83 hits in 1054 CRISPR screens |
ChiTaRSi | PIGS, human |
GeneWikii | PIGS_(gene) |
GenomeRNAii | 94005 |
Pharosi | Q96S52, Tdark |
PROi | PR:Q96S52 |
RNActi | Q96S52, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000087111, Expressed in heart left ventricle and 119 other tissues |
ExpressionAtlasi | Q96S52, baseline and differential |
Genevisiblei | Q96S52, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019540, PtdIno-glycan_biosynth_class_S |
PANTHERi | PTHR21072, PTHR21072, 1 hit |
Pfami | View protein in Pfam PF10510, PIG-S, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGS_HUMAN | |
Accessioni | Q96S52Primary (citable) accession number: Q96S52 Secondary accession number(s): Q6UVX6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2002 |
Last sequence update: | January 23, 2007 | |
Last modified: | February 23, 2022 | |
This is version 152 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families