Reviewed, UniProtKB/Swiss-Prot P57054 (PIGP_HUMAN)

Names and origin

Protein names

Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit P
    EC=2.4.1.198
Alternative name(s):
    Phosphatidylinositol-glycan biosynthesis class P protein
      Short name=PIG-P
    Down syndrome critical region protein 5
    Down syndrome critical region protein C

Gene names

Name:	PIGP
Synonyms:	DCRC, DSCR5, DSCRC
ORF Names:	NPD010

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	158 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein 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. Ref.3
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, PIGC, PIGH, PIGQ and DPM2. The latter is not essential for activity.
Subcellular location	Membrane; Multi-pass membrane protein Potential.
Tissue specificity	Ubiquitous.
Sequence similarities	Belongs to the PIGP family.

Ontologies

Keywords
Biological process	GPI-anchor biosynthesis
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Molecular function	Glycosyltransferase Transferase
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	preassembly of GPI anchor in ER membrane Inferred from Experiment. Source: Reactome
Cellular component	integral to membrane Non-traceable author statement. Source: UniProtKB
Molecular function	phosphatidylinositol N-acetylglucosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform B (identifier: P57054-1)

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 A (identifier: P57054-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Isoform C (identifier: P57054-3)

Also known as: DCRC-S;

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     51-52: FI → MV

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 158	158	Phosphatidylinositol N-acetylglucosaminyltransferase subunit P		PRO_0000191783
Regions
	Transmembrane	40 – 60	21	Potential
	Transmembrane	80 – 100	21	Potential
Natural variations
	Alternative sequence	1 – 50	50	Missing in isoform C.		VSP_004203
	Alternative sequence	1 – 24	24	Missing in isoform A.		VSP_004202
	Alternative sequence	51 – 52	2	FI → MV in isoform C.		VSP_004204
	Natural variant	118	1	Y → C: dbSNP rs16994704.		VAR_050538
	Natural variant	136	1	R → S: dbSNP rs2276231.		VAR_050539
Experimental info
	Sequence conflict	3	1	P → S in BAA96872. Ref.1
	Sequence conflict	90	1	I → V in BAA96873. Ref.1
	Sequence conflict	90	1	I → V in AAF32289. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform B [UniParc]. Last modified December 6, 2005. Version 2. Checksum: 9309CEAC1DD777CF	FASTA	158	18,089
	10 20 30 40 50 60 MVPRSTSLTL IVFLFHRLSK APGKMVENSP SPLPERAIYG FVLFLSSQFG FILYLVWAFI 70 80 90 100 110 120 PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI NMMSTSPLDS IHTITDNYAK 130 140 150 NQQQKKYQEE AIPALRDISI SEVNQMFFLA AKELYTKN
	Isoform A. Checksum: 47A2122FA663EB64	FASTA	134	15,408
	10 20 30 40 50 60 MVENSPSPLP ERAIYGFVLF LSSQFGFILY LVWAFIPESW LNSLGLTYWP QKYWAVALPV 70 80 90 100 110 120 YLLIAIVIGY VLLFGINMMS TSPLDSIHTI TDNYAKNQQQ KKYQEEAIPA LRDISISEVN 130 QMFFLAAKEL YTKN
	Isoform C (DCRC-S). Checksum: CF1E65158429EE48	FASTA	108	12,510
	10 20 30 40 50 60 MVLYLVWAFI PESWLNSLGL TYWPQKYWAV ALPVYLLIAI VIGYVLLFGI NMMSTSPLDS 70 80 90 100 IHTITDNYAK NQQQKKYQEE AIPALRDISI SEVNQMFFLA AKELYTKN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2." Shibuya K., Kudoh J., Minoshima S., Kawasaki K., Asakawa S., Shimizu N. Biochem. Biophys. Res. Commun. 271:693-698(2000) [PubMed: 10814524] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C). Tissue: Testis.
[2]	"A novel gene, DSCR5, from the distal Down syndrome critical region on chromosome 21q22.2." Togashi T., Choi D.-K., Taylor T.D., Suzuki Y., Sugano S., Hattori M., Sakaki Y. DNA Res. 7:207-212(2000) [PubMed: 10907851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C).
[3]	"Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2." Watanabe R., Murakami Y., Marmor M.D., Inoue N., Maeda Y., Hino J., Kangawa K., Julius M., Kinoshita T. EMBO J. 19:4402-4411(2000) [PubMed: 10944123] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 26-33, FUNCTION (ISOFORM A).
[4]	Song H., Gao G., Peng Y., Ren S., Chen Z., Han Z. Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B). Tissue: Pituitary.
[5]	"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] (ISOFORM A).
[6]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ISOFORM C).
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A). Tissue: Brain.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AB037162 mRNA. Translation: BAA96871.1. AB037163 mRNA. Translation: BAA96872.1. AB037164 mRNA. Translation: BAA96873.1. AB035742 mRNA. Translation: BAA95633.1. AB035743 mRNA. Translation: BAA95634.1. AB035744 mRNA. Translation: BAA95635.1. AB035745 mRNA. Translation: BAA95636.1. AF216305 mRNA. Translation: AAF32289.1. AB039659 mRNA. Translation: BAB12395.1. AF237812 mRNA. Translation: AAG09757.1. BT007053 mRNA. Translation: AAP35702.1. AP001727 Genomic DNA. Translation: BAA95512.1. BC005180 mRNA. Translation: AAH05180.1. BC011007 mRNA. Translation: AAH11007.1.
IPI	IPI00171720. IPI00304806. IPI00414749.
PIR	JC7301. JC7302.
RefSeq	NP_710148.1. NP_710149.1.
UniGene	Hs.656565
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000185808. Homo sapiens. [Contig view]
GeneID	51227.
KEGG	hsa:51227.
Organism-specific databases
GeneCards	GC21M037360.
H-InvDB	HIX0016106.
HGNC	HGNC:3046. PIGP.
MIM	605938. gene.
PharmGKB	PA27498.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P57054.
HOVERGEN	P57054.
Enzyme and pathway databases
BRENDA	2.4.1.198. 247.
Reactome	REACT_1069. Post-translational protein modification.
Gene expression databases
ArrayExpress	P57054.
Bgee	P57054.
CleanEx	HS_PIGP.
GermOnline	ENSG00000185808. Homo sapiens.
Family and domain databases
InterPro	IPR013717. PIG-P. IPR016542. PIG-P_GPI19. [Graphical view]
Pfam	PF08510. PIG-P. 1 hit. [Graphical view]
PIRSF	PIRSF008765. PIG-P_GPI19. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	54318.
SOURCE	Search...

Entry information

Entry name

PIGP_HUMAN

Accession

Primary (citable) accession number: P57054
Secondary accession number(s): Q53Y28, Q96KI1, Q9NZA6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	December 6, 2005
Last modified:	June 16, 2009
This is version 68 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)