Q92535 (PIGC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit C
EC=2.4.1.198

Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class C protein
Short name=PIG-C

Gene names

Name:	PIGC
Synonyms:	GPI2

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	297 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Part of the complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.
Catalytic activity	UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP + 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol.
Pathway	Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.
Subunit structure	Associates with PIGA, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the PIGC family.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	C-terminal protein lipidation Traceable author statement. Source: Reactome preassembly of GPI anchor in ER membrane Traceable author statement. Source: Reactome
Cellular_component	endoplasmic reticulum membrane Traceable author statement. Source: Reactome glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex Inferred from direct assay PubMed 10944123. Source: MGI integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	catalytic activity Traceable author statement Ref.1. Source: ProtInc phosphatidylinositol N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 297	297	Phosphatidylinositol N-acetylglucosaminyltransferase subunit C		PRO_0000058431
Regions
	Transmembrane	51 – 71	21	Helical; Potential
	Transmembrane	80 – 100	21	Helical; Potential
	Transmembrane	154 – 174	21	Helical; Potential
	Transmembrane	239 – 259	21	Helical; Potential
Natural variations
	Natural variant	266	1	P → S. Ref.2 Corresponds to variant rs1063412 [ dbSNP | Ensembl ].		VAR_011360

Sequences

	Sequence		Length	Mass (Da)
	Q92535 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: BD9584C5D5203A4B	FASTA	297	33,583
	10 20 30 40 50 60 MYAQPVTNTK EVKWQKVLYE RQPFPDNYVD RRFLEELRKN IHARKYQYWA VVFESSVVIQ 70 80 90 100 110 120 QLCSVCVFVV IWWYMDEGLL APHWLLGTGL ASSLIGYVLF DLIDGGEGRK KSGQTRWADL 130 140 150 160 170 180 KSALVFITFT YGFSPVLKTL TESVSTDTIY AMSVFMLLGH LIFFDYGANA AIVSSTLSLN 190 200 210 220 230 240 MAIFASVCLA SRLPRSLHAF IMVTFAIQIF ALWPMLQKKL KACTPRSYVG VTLLFAFSAV 250 260 270 280 290 GGLLSISAVG AVLFALLLMS ISCLCPFYLI RLQLFKENIH GPWDEAEIKE DLSRFLS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of Saccharomyces cerevisiae GPI2." Inoue N., Watanabe R., Takeda J., Kinoshita T. Biochem. Biophys. Res. Commun. 226:193-199(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Structures and chromosomal localizations of the glycosylphosphatidylinositol synthesis gene PIGC and its pseudogene PIGCP1." Hong Y., Ohishi K., Inoue N., Endo Y., Fujita T., Takeda J., Kinoshita T. Genomics 44:347-349(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-266. Tissue: Fibroblast.
[3]	"Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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]. Tissue: Lung.
+	Additional computationally mapped references.

Web resources

Functional Glycomics Gateway - GTase

Phosphatidylinositol N-acetylglucosaminyltransferase subunit C8

Cross-references

Sequence databases
EMBL GenBank DDBJ	D85418 mRNA. Translation: BAA12812.1. AB000360 Genomic DNA. Translation: BAA22866.1. BT006734 mRNA. Translation: AAP35380.1. CR450292 mRNA. Translation: CAG29288.1. Z97195 Genomic DNA. Translation: CAB10071.1. BC006539 mRNA. Translation: AAH06539.1.
IPI	IPI00021948.
PIR	JC4969.
RefSeq	NP_002633.1. NM_002642.3. NP_714969.1. NM_153747.1.
UniGene	Hs.188456.
3D structure databases
ProteinModelPortal	Q92535.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92535. 1 interaction.
MINT	MINT-1424659.
STRING	9606.ENSP00000258324.
PTM databases
PhosphoSite	Q92535.
Polymorphism databases
DMDM	14916629.
Proteomic databases
PaxDb	Q92535.
PRIDE	Q92535.
Protocols and materials databases
DNASU	5279.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258324; ENSP00000258324; ENSG00000135845. ENST00000344529; ENSP00000356701; ENSG00000135845. ENST00000367728; ENSP00000356702; ENSG00000135845.
GeneID	5279.
KEGG	hsa:5279.
UCSC	uc001gin.3. human.
Organism-specific databases
CTD	5279.
GeneCards	GC01M172339.
HGNC	HGNC:8960. PIGC.
HPA	HPA036663.
MIM	601730. gene.
neXtProt	NX_Q92535.
PharmGKB	PA33291.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG275923.
HOGENOM	HOG000194668.
HOVERGEN	HBG009071.
InParanoid	Q92535.
KO	K03859.
OMA	NIHARKY.
OrthoDB	EOG4PK28D.
PhylomeDB	Q92535.
Enzyme and pathway databases
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00196.
Gene expression databases
Bgee	Q92535.
CleanEx	HS_PIGC.
Genevestigator	Q92535.
GermOnline	ENSG00000135845. Homo sapiens.
Family and domain databases
InterPro	IPR009450. Plno_GlcNAc_GPI2. [Graphical view]
PANTHER	PTHR12982. PTHR12982. 1 hit.
Pfam	PF06432. GPI2. 1 hit. [Graphical view]
PIRSF	PIRSF016104. GPI2. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	5279.
NextBio	20400.
SOURCE	Search...

Entry information

Entry name

PIGC_HUMAN

Accession

Primary (citable) accession number: Q92535
Secondary accession number(s): O14491

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2001
Last sequence update:	February 1, 1997
Last modified:	April 3, 2013
This is version 112 of the entry and version 1 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.