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Q96S52 (PIGS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
GPI transamidase component PIG-S
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class S protein
Gene names
Name:PIGS
ORF Names:UNQ1873/PRO4316
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length555 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the GPI transamidase complex. Essential for transfer of GPI to proteins, particularly for formation of carbonyl intermediates. Ref.1

Pathway

Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Subunit structure

Forms a complex with PIGK/GPI8, PIGT, PIGU and GAA1. Ref.1

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.1.

Sequence similarities

Belongs to the PIGS family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96S52-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96S52-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-11: MAAAGAAATHL → MPS
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.1
Chain2 – 555554GPI transamidase component PIG-S
PRO_0000218604

Regions

Topological domain2 – 1817Cytoplasmic Potential
Transmembrane19 – 3921Helical; Potential
Topological domain40 – 520481Lumenal Potential
Transmembrane521 – 54121Helical; Potential
Topological domain542 – 55514Cytoplasmic Potential

Amino acid modifications

Glycosylation2671N-linked (GlcNAc...) Potential
Glycosylation3701N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 1111MAAAGAAATHL → MPS in isoform 2.
VSP_013158
Natural variant1591M → I in a breast cancer sample; somatic mutation. Ref.5
VAR_036510
Natural variant2531R → H.
Corresponds to variant rs34669811 [ dbSNP | Ensembl ].
VAR_053582

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 23, 2007. Version 3.
Checksum: A20B323C5475EF4F

FASTA55561,656
        10         20         30         40         50         60 
MAAAGAAATH LEVARGKRAA LFFAAVAIVL GLPLWWKTTE TYRASLPYSQ ISGLNALQLR 

        70         80         90        100        110        120 
LMVPVTVVFT RESVPLDDQE KLPFTVVHER EIPLKYKMKI KCRFQKAYRR ALDHEEEALS 

       130        140        150        160        170        180 
SGSVQEAEAM LDEPQEQAEG SLTVYVISEH SSLLPQDMMS YIGPKRTAVV RGIMHREAFN 

       190        200        210        220        230        240 
IIGRRIVQVA QAMSLTEDVL AAALADHLPE DKWSAEKRRP LKSSLGYEIT FSLLNPDPKS 

       250        260        270        280        290        300 
HDVYWDIEGA VRRYVQPFLN ALGAAGNFSV DSQILYYAML GVNPRFDSAS SSYYLDMHSL 

       310        320        330        340        350        360 
PHVINPVESR LGSSAASLYP VLNFLLYVPE LAHSPLYIQD KDGAPVATNA FHSPRWGGIM 

       370        380        390        400        410        420 
VYNVDSKTYN ASVLPVRVEV DMVRVMEVFL AQLRLLFGIA QPQLPPKCLL SGPTSEGLMT 

       430        440        450        460        470        480 
WELDRLLWAR SVENLATATT TLTSLAQLLG KISNIVIKDD VASEVYKAVA AVQKSAEELA 

       490        500        510        520        530        540 
SGHLASAFVA SQEAVTSSEL AFFDPSLLHL LYFPDDQKFA IYIPLFLPMA VPILLSLVKI 

       550 
FLETRKSWRK PEKTD 

« Hide

Isoform 2 [UniParc].

Checksum: FE15DAA8222209B8
Show »

FASTA54761,005

References

« Hide 'large scale' references
[1]"PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8."
Ohishi K., Inoue N., Kinoshita T.
EMBO J. 20:4088-4098(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 2-21, FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[4]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-159.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB057723 mRNA. Translation: BAB60853.1.
AY359112 mRNA. Translation: AAQ89470.1.
BC069228 mRNA. Translation: AAH69228.1.
CCDSCCDS11235.1. [Q96S52-1]
RefSeqNP_149975.1. NM_033198.3. [Q96S52-1]
UniGeneHs.462550.

3D structure databases

ProteinModelPortalQ96S52.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125082. 11 interactions.
IntActQ96S52. 1 interaction.
MINTMINT-4537363.
STRING9606.ENSP00000309430.

PTM databases

PhosphoSiteQ96S52.

Polymorphism databases

DMDM21759353.

Proteomic databases

MaxQBQ96S52.
PaxDbQ96S52.
PeptideAtlasQ96S52.
PRIDEQ96S52.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308360; ENSP00000309430; ENSG00000087111. [Q96S52-1]
ENST00000395346; ENSP00000378755; ENSG00000087111. [Q96S52-2]
GeneID94005.
KEGGhsa:94005.
UCSCuc002hbn.2. human. [Q96S52-2]
uc002hbo.2. human. [Q96S52-1]

Organism-specific databases

CTD94005.
GeneCardsGC17M026880.
HGNCHGNC:14937. PIGS.
HPAHPA018149.
MIM610271. gene.
neXtProtNX_Q96S52.
PharmGKBPA33301.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG319204.
HOGENOMHOG000067980.
HOVERGENHBG031822.
InParanoidQ96S52.
KOK05291.
OMASYIGPER.
OrthoDBEOG741Z1V.
PhylomeDBQ96S52.
TreeFamTF105857.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00196.

Gene expression databases

ArrayExpressQ96S52.
BgeeQ96S52.
CleanExHS_PIGS.
GenevestigatorQ96S52.

Family and domain databases

InterProIPR019540. PtdIno-glycan_biosynth_class_S.
[Graphical view]
PANTHERPTHR21072. PTHR21072. 1 hit.
PfamPF10510. PIG-S. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPIGS_(gene).
GenomeRNAi94005.
NextBio78284.
PROQ96S52.
SOURCESearch...

Entry information

Entry namePIGS_HUMAN
AccessionPrimary (citable) accession number: Q96S52
Secondary accession number(s): Q6UVX6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: January 23, 2007
Last modified: July 9, 2014
This is version 96 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM