Human Gene PIGS (uc002hbo.2) Description and Page Index
  Description: Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.
RefSeq Summary (NM_033198): 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]. ##Evidence-Data-START## Transcript exon combination :: BC069228.1, SRR3476690.865340.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000308360.8/ ENSP00000309430.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:26,880,406-26,898,887 Size: 18,482 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr17:26,881,238-26,898,514 Size: 17,277 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:26,880,406-26,898,887)mRNA (may differ from genome)Protein (555 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=GPI transamidase component PIG-S; AltName: Full=Phosphatidylinositol-glycan biosynthesis class S protein;
FUNCTION: Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates.
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SUBUNIT: Forms a complex with PIGK/GPI8, PIGT, PIGU and GAA1.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the PIGS family.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.30 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 763.18 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -147.40373-0.395 Picture PostScript Text
3' UTR -270.49832-0.325 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019540 - PtdIno-glycan_biosynth_class_S

Pfam Domains:
PF10510 - Phosphatidylinositol-glycan biosynthesis class S protein

ModBase Predicted Comparative 3D Structure on Q96S52
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologGenome Browser
Gene Details  Gene Details Gene Details
Gene Sorter  Gene Sorter Gene Sorter
  EnsemblFlyBase SGD
  Protein SequenceProtein Sequence Protein Sequence
  AlignmentAlignment Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003923 GPI-anchor transamidase activity
GO:0005515 protein binding

Biological Process:
GO:0006506 GPI anchor biosynthetic process
GO:0016255 attachment of GPI anchor to protein

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042765 GPI-anchor transamidase complex

-  Descriptions from all associated GenBank mRNAs
  BX640839 - Homo sapiens mRNA; cDNA DKFZp686K20216 (from clone DKFZp686K20216).
BC001319 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S, mRNA (cDNA clone IMAGE:3455804), partial cds.
AK025825 - Homo sapiens cDNA: FLJ22172 fis, clone HRC00717, highly similar to AF161427 Homo sapiens HSPC309 mRNA.
AF161427 - Homo sapiens HSPC309 mRNA, partial cds.
BC007301 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S, mRNA (cDNA clone IMAGE:3351792), partial cds.
BC069228 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S, mRNA (cDNA clone MGC:78407 IMAGE:3944034), complete cds.
AK127162 - Homo sapiens cDNA FLJ45226 fis, clone BRCAN2020412, highly similar to GPI transamidase component PIG-S.
AY359112 - Homo sapiens clone DNA94713 PIGS (UNQ1873) mRNA, complete cds.
AK055512 - Homo sapiens cDNA FLJ30950 fis, clone HCASM1000061.
AK075428 - Homo sapiens cDNA PSEC0119 fis, clone PLACE1002376, highly similar to GPI transamidase component PIG-S.
JD237416 - Sequence 218440 from Patent EP1572962.
JD245997 - Sequence 227021 from Patent EP1572962.
JD375450 - Sequence 356474 from Patent EP1572962.
JD508959 - Sequence 489983 from Patent EP1572962.
JD215214 - Sequence 196238 from Patent EP1572962.
JD130644 - Sequence 111668 from Patent EP1572962.
AK297046 - Homo sapiens cDNA FLJ58583 complete cds, highly similar to GPI transamidase component PIG-S.
JD304026 - Sequence 285050 from Patent EP1572962.
JD040393 - Sequence 21417 from Patent EP1572962.
JD047908 - Sequence 28932 from Patent EP1572962.
JD542511 - Sequence 523535 from Patent EP1572962.
JD159728 - Sequence 140752 from Patent EP1572962.
JD322845 - Sequence 303869 from Patent EP1572962.
JD099880 - Sequence 80904 from Patent EP1572962.
JD556638 - Sequence 537662 from Patent EP1572962.
JD450044 - Sequence 431068 from Patent EP1572962.
JD518742 - Sequence 499766 from Patent EP1572962.
JD385639 - Sequence 366663 from Patent EP1572962.
JD436090 - Sequence 417114 from Patent EP1572962.
AB057723 - Homo sapiens PIG-S mRNA for phosphatidyl inositol glycan class S, complete cds.
AK314583 - Homo sapiens cDNA, FLJ95416, highly similar to Homo sapiens phosphatidylinositol glycan, class S (PIGS), mRNA.
AB527641 - Synthetic construct DNA, clone: pF1KB5503, Homo sapiens PIGS gene for phosphatidylinositol glycan anchor biosynthesis, class S, without stop codon, in Flexi system.
CU686718 - Synthetic construct Homo sapiens gateway clone IMAGE:100023131 5' read PIGS mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00563 - Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q96S52 (Reactome details) participates in the following event(s):

R-HSA-162836 uPAR precursor + acyl-GPI -> uPAR-acyl-GPI + uPAR propeptide
R-HSA-162791 Attachment of GPI anchor to uPAR
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: NM_033198, NP_149975, PIGS_HUMAN, Q6UVX6, Q96S52, UNQ1873/PRO4316
UCSC ID: uc002hbo.2
RefSeq Accession: NM_033198
Protein: Q96S52 (aka PIGS_HUMAN)
CCDS: CCDS11235.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_033198.3
exon count: 12CDS single in 3' UTR: no RNA size: 2873
ORF size: 1668CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3515.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.