Q96S52 (PIGS_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
GPI transamidase component PIG-S

Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class S protein

Gene names

Name:	PIGS
ORF Names:	UNQ1873/PRO4316

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	555 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane Transmembrane helix
PTM	Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	C-terminal protein lipidation Traceable author statement. Source: Reactome attachment of GPI anchor to protein Traceable author statement Ref.1. Source: UniProtKB
Cellular_component	GPI-anchor transamidase complex Traceable author statement PubMed 15713669. Source: UniProtKB
Molecular_function	GPI-anchor transamidase activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.1
	Chain	2 – 555	554	GPI transamidase component PIG-S		PRO_0000218604
Regions
	Topological domain	2 – 18	17	Cytoplasmic Potential
	Transmembrane	19 – 39	21	Helical; Potential
	Topological domain	40 – 520	481	Lumenal Potential
	Transmembrane	521 – 541	21	Helical; Potential
	Topological domain	542 – 555	14	Cytoplasmic Potential
Amino acid modifications
	Glycosylation	267	1	N-linked (GlcNAc...) Potential
	Glycosylation	370	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 11	11	MAAAGAAATHL → MPS in isoform 2.		VSP_013158
	Natural variant	159	1	M → I in a breast cancer sample; somatic mutation. Ref.5		VAR_036510
	Natural variant	253	1	R → H. Corresponds to variant rs34669811 [ dbSNP | Ensembl ].		VAR_053582

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2007. Version 3. Checksum: A20B323C5475EF4F	FASTA	555	61,656
	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
	Isoform 2 [UniParc]. Checksum: FE15DAA8222209B8	FASTA	547	61,005
	10 20 30 40 50 60 MPSEVARGKR AALFFAAVAI VLGLPLWWKT TETYRASLPY SQISGLNALQ LRLMVPVTVV 70 80 90 100 110 120 FTRESVPLDD QEKLPFTVVH EREIPLKYKM KIKCRFQKAY RRALDHEEEA LSSGSVQEAE 130 140 150 160 170 180 AMLDEPQEQA EGSLTVYVIS EHSSLLPQDM MSYIGPKRTA VVRGIMHREA FNIIGRRIVQ 190 200 210 220 230 240 VAQAMSLTED VLAAALADHL PEDKWSAEKR RPLKSSLGYE ITFSLLNPDP KSHDVYWDIE 250 260 270 280 290 300 GAVRRYVQPF LNALGAAGNF SVDSQILYYA MLGVNPRFDS ASSSYYLDMH SLPHVINPVE 310 320 330 340 350 360 SRLGSSAASL YPVLNFLLYV PELAHSPLYI QDKDGAPVAT NAFHSPRWGG IMVYNVDSKT 370 380 390 400 410 420 YNASVLPVRV EVDMVRVMEV FLAQLRLLFG IAQPQLPPKC LLSGPTSEGL MTWELDRLLW 430 440 450 460 470 480 ARSVENLATA TTTLTSLAQL LGKISNIVIK DDVASEVYKA VAAVQKSAEE LASGHLASAF 490 500 510 520 530 540 VASQEAVTSS ELAFFDPSLL HLLYFPDDQK FAIYIPLFLP MAVPILLSLV KIFLETRKSW RKPEKTD

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI00465308. IPI00554703.
RefSeq	NP_149975.1. NM_033198.3.
UniGene	Hs.462550.
3D structure databases
ProteinModelPortal	Q96S52.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96S52. 1 interaction.
MINT	MINT-4537363.
STRING	9606.ENSP00000309430.
PTM databases
PhosphoSite	Q96S52.
Polymorphism databases
DMDM	21759353.
Proteomic databases
PaxDb	Q96S52.
PeptideAtlas	Q96S52.
PRIDE	Q96S52.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308360; ENSP00000309430; ENSG00000087111. ENST00000395346; ENSP00000378755; ENSG00000087111.
GeneID	94005.
KEGG	hsa:94005.
UCSC	uc002hbn.2. human. uc002hbo.2. human.
Organism-specific databases
CTD	94005.
GeneCards	GC17M026880.
HGNC	HGNC:14937. PIGS.
HPA	HPA018149.
MIM	610271. gene.
neXtProt	NX_Q96S52.
PharmGKB	PA33301.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG319204.
HOGENOM	HOG000067980.
HOVERGEN	HBG031822.
InParanoid	Q96S52.
KO	K05291.
OMA	LMHREAF.
OrthoDB	EOG4MGS75.
PhylomeDB	Q96S52.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00196.
Gene expression databases
ArrayExpress	Q96S52.
Bgee	Q96S52.
CleanEx	HS_PIGS.
Genevestigator	Q96S52.
GermOnline	ENSG00000087111. Homo sapiens.
Family and domain databases
InterPro	IPR019540. PtdIno-glycan_biosynth_class_S. [Graphical view]
PANTHER	PTHR21072. PTHR21072. 1 hit.
Pfam	PF10510. PIG-S. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	94005.
NextBio	78284.
SOURCE	Search...

Entry information

Entry name

PIGS_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 86 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.