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Aliases for PIGS Gene

Aliases for PIGS Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class S 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class S Protein 4
  • Phosphatidylinositol Glycan, Class S 2
  • GPI Transamidase Subunit 2

External Ids for PIGS Gene

Previous GeneCards Identifiers for PIGS Gene

  • GC17M026725
  • GC17M028780
  • GC17M027025
  • GC17M023904
  • GC17M026880
  • GC17M023089

Summaries for PIGS Gene

Entrez Gene Summary for PIGS Gene

  • This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGS Gene

PIGS (Phosphatidylinositol Glycan Anchor Biosynthesis Class S) is a Protein Coding gene. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism. GO annotations related to this gene include GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot for PIGS Gene

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

Gene Wiki entry for PIGS Gene

Additional gene information for PIGS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGS Gene

Genomics for PIGS Gene

Regulatory Elements for PIGS Gene

Enhancers for PIGS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H028901 1.4 ENCODE dbSUPER 18.1 -330.7 -330746 2 HNRNPUL1 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 DMAP1 ZNF2 ZNF766 LOC101927018 SUPT6H ENSG00000264577 NUFIP2 PHF12 RPL23A ENSG00000265908 SDF2 ENSG00000265205 PIGS
GH17H028546 1 ENCODE 22.2 +21.5 21463 7 HDGF PKNOX1 ARID4B SIN3A GLI4 YY1 GLIS2 ZNF143 ZNF207 RUNX3 PIGS ENSG00000264577 NUFIP2 LOC101927018 PHF12 ENSG00000265205 SDF2 FOXN1 SUPT6H ALDOC
GH17H028807 1.6 FANTOM5 ENCODE dbSUPER 11.7 -238.6 -238568 6 HDGF FOXA2 PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 SUPT6H TRAF4 LOC101927018 ENSG00000264577 ENSG00000265205 NUFIP2 ENSG00000265908 ERAL1 FAM222B PIGS
GH17H028526 1.2 ENCODE dbSUPER 11.8 +43.9 43914 2 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ELK1 ATF7 NCOA1 MEF2D UNC119 PIGS FOXN1 ENSG00000265205 GC17P028538
GH17H028643 1.1 ENCODE 11.9 -73.9 -73850 4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ENSG00000264577 NUFIP2 SUPT6H LOC101927018 PHF12 ENSG00000265205 PROCA1 ENSG00000265908 TMEM199 PIGS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGS on UCSC Golden Path with GeneCards custom track

Promoters for PIGS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092743 572 1401 HDGF PKNOX1 ARID4B SIN3A YY1 FOS DEK SP3 ZHX2 NFYC

Genomic Location for PIGS Gene

Chromosome:
17
Start:
28,553,383 bp from pter
End:
28,571,872 bp from pter
Size:
18,490 bases
Orientation:
Minus strand

Genomic View for PIGS Gene

Genes around PIGS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGS Gene

Proteins for PIGS Gene

  • Protein details for PIGS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96S52-PIGS_HUMAN
    Recommended name:
    GPI transamidase component PIG-S
    Protein Accession:
    Q96S52
    Secondary Accessions:
    • Q6UVX6

    Protein attributes for PIGS Gene

    Size:
    555 amino acids
    Molecular mass:
    61656 Da
    Quaternary structure:
    • Forms a complex with PIGK/GPI8, PIGT, PIGU and GAA1.

    Alternative splice isoforms for PIGS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGS Gene

Post-translational modifications for PIGS Gene

  • Glycosylation at Asn267 and Asn370
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGS Gene

No data available for DME Specific Peptides for PIGS Gene

Domains & Families for PIGS Gene

Gene Families for PIGS Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for PIGS Gene

Suggested Antigen Peptide Sequences for PIGS Gene

Graphical View of Domain Structure for InterPro Entry

Q96S52

UniProtKB/Swiss-Prot:

PIGS_HUMAN :
  • Belongs to the PIGS family.
Family:
  • Belongs to the PIGS family.
genes like me logo Genes that share domains with PIGS: view

Function for PIGS Gene

Molecular function for PIGS Gene

UniProtKB/Swiss-Prot Function:
Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.

Phenotypes From GWAS Catalog for PIGS Gene

Gene Ontology (GO) - Molecular Function for PIGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003923 contributes_to GPI-anchor transamidase activity TAS 11483512
GO:0005515 protein binding IPI 11483512
genes like me logo Genes that share ontologies with PIGS: view

Phenotypes for PIGS Gene

genes like me logo Genes that share phenotypes with PIGS: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGS Gene

Localization for PIGS Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGS Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGS gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for PIGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0042765 GPI-anchor transamidase complex TAS,IEA 15713669
genes like me logo Genes that share ontologies with PIGS: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGS Gene

Pathways & Interactions for PIGS Gene

genes like me logo Genes that share pathways with PIGS: view

UniProtKB/Swiss-Prot Q96S52-PIGS_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA --
GO:0016255 attachment of GPI anchor to protein IEA,TAS 11483512
genes like me logo Genes that share ontologies with PIGS: view

No data available for SIGNOR curated interactions for PIGS Gene

Drugs & Compounds for PIGS Gene

(3) Drugs for PIGS Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(841) Additional Compounds for PIGS Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGS: view

Transcripts for PIGS Gene

Unigene Clusters for PIGS Gene

Phosphatidylinositol glycan anchor biosynthesis, class S:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PIGS Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13
SP1: - - - -
SP2: - - - -
SP3: - - - - - - - - - - - - -
SP4: - -
SP5: - - -
SP6: - - - -
SP7: -
SP8:
SP9: - -

Relevant External Links for PIGS Gene

GeneLoc Exon Structure for
PIGS
ECgene alternative splicing isoforms for
PIGS

Expression for PIGS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PIGS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGS Gene

This gene is overexpressed in Bone (33.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIGS Gene



Protein tissue co-expression partners for PIGS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIGS Gene:

PIGS

SOURCE GeneReport for Unigene cluster for PIGS Gene:

Hs.462550

Evidence on tissue expression from TISSUES for PIGS Gene

  • Lung(4.4)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PIGS: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGS Gene

Orthologs for PIGS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGS 33 34
  • 99.52 (n)
cow
(Bos Taurus)
Mammalia PIGS 33 34
  • 89.67 (n)
dog
(Canis familiaris)
Mammalia PIGS 33 34
  • 89.19 (n)
rat
(Rattus norvegicus)
Mammalia Pigs 33
  • 87.81 (n)
mouse
(Mus musculus)
Mammalia Pigs 33 16 34
  • 87.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGS 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGS 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGS 33 34
  • 66.87 (n)
lizard
(Anolis carolinensis)
Reptilia PIGS 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigs 33
  • 60.49 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15898 33
zebrafish
(Danio rerio)
Actinopterygii pigs 33 34
  • 59.44 (n)
Dr.17191 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002933 33
  • 47.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31120 33 34
  • 44.59 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-5 34
  • 20 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR180C 33
  • 42.86 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B01045g 33
  • 40.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI17 33 34 36
  • 40.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G07180 33
  • 40.56 (n)
rice
(Oryza sativa)
Liliopsida Os01g0907300 33
  • 41.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06033 33
  • 44.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi17 33
  • 40.77 (n)
Species where no ortholog for PIGS was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGS Gene

ENSEMBL:
Gene Tree for PIGS (if available)
TreeFam:
Gene Tree for PIGS (if available)

Paralogs for PIGS Gene

(1) SIMAP similar genes for PIGS Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PIGS: view

No data available for Paralogs for PIGS Gene

Variants for PIGS Gene

Sequence variations from dbSNP and Humsavar for PIGS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_036510 A breast cancer sample
rs1000000703 -- 28,567,948(+) GCCTT(C/T)TAGGT intron-variant
rs1000527173 -- 28,555,753(+) ATCAC(A/G)AGGTC intron-variant
rs1000786829 -- 28,561,955(+) AGTCT(C/G)ATATA intron-variant
rs1000891287 -- 28,560,735(+) ATCAC(A/G)TCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIGS Gene

Variant ID Type Subtype PubMed ID
nsv1064087 CNV gain 25217958
nsv1064958 CNV loss 25217958

Variation tolerance for PIGS Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.38; 63.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGS Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGS Gene

Disorders for PIGS Gene

Relevant External Links for PIGS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGS

No disorders were found for PIGS Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIGS Gene

Publications for PIGS Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60
  3. PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8. (PMID: 11483512) Ohishi K … Kinoshita T (The EMBO journal 2001) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 60

Products for PIGS Gene

Sources for PIGS Gene

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