P57054 (PIGP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

Alternative name(s):
Down syndrome critical region protein 5
Down syndrome critical region protein C
Phosphatidylinositol-glycan biosynthesis class P protein
Short name=PIG-P

Gene names

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

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	158 AA.
Sequence status	Complete.
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 Transmembrane helix
Molecular function	Glycosyltransferase Transferase
Technical term	Complete proteome Direct protein sequencing 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 Ref.3. Source: MGI 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	Helical; Potential
	Transmembrane	80 – 100	21	Helical; 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	9	1	A → T. Ref.1 Ref.2 Ref.4 Ref.6 Ref.9 Corresponds to variant rs2507733 [ dbSNP | Ensembl ].		VAR_061521
	Natural variant	118	1	Y → C. Corresponds to variant rs16994704 [ dbSNP | Ensembl ].		VAR_050538
	Natural variant	136	1	R → S. Corresponds to variant rs2276231 [ dbSNP | Ensembl ].		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 November 28, 2012. Version 3. Checksum: 924CCEB84C9D2721	FASTA	158	18,059
	10 20 30 40 50 60 MVPRSTSLAL 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 [UniParc]. 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) [UniParc]. 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C), VARIANT THR-9. 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C), VARIANT THR-9.
[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] [Europe PMC] [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), VARIANT THR-9. 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]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B), VARIANT THR-9. Tissue: Kidney and Umbilical cord blood.
[7]	"Human protein factory for converting the transcriptome into an in vitro-expressed proteome." Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R., Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y., Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B. , Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S., Nomura N. Nat. Methods 5:1011-1017(2008) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM C).
[8]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-9.
[10]	"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 A). Tissue: Brain.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. AK314457 mRNA. Translation: BAG37065.1. AK316609 mRNA. Translation: BAG38196.1. AB451328 mRNA. Translation: BAG70142.1. AB451472 mRNA. Translation: BAG70286.1. AP000704 Genomic DNA. No translation available. AP001429 Genomic DNA. No translation available. AP001431 Genomic DNA. No translation available. AP001727 Genomic DNA. Translation: BAA95512.1. CH471079 Genomic DNA. Translation: EAX09724.1. CH471079 Genomic DNA. Translation: EAX09725.1. CH471079 Genomic DNA. Translation: EAX09727.1. CH471079 Genomic DNA. Translation: EAX09726.1. CH471079 Genomic DNA. Translation: EAX09728.1. BC005180 mRNA. Translation: AAH05180.1. BC011007 mRNA. Translation: AAH11007.1.
IPI	IPI00171720. IPI00304806. IPI00414749.
PIR	JC7301. JC7302.
RefSeq	NP_710148.1. NM_153681.2. NP_710149.1. NM_153682.2.
UniGene	Hs.656565. Hs.716087.
3D structure databases
ProteinModelPortal	P57054.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000420037.
PTM databases
PhosphoSite	P57054.
Polymorphism databases
DMDM	83305308.
Proteomic databases
PaxDb	P57054.
PRIDE	P57054.
Protocols and materials databases
DNASU	51227.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000360525; ENSP00000353719; ENSG00000185808. ENST00000399098; ENSP00000382049; ENSG00000185808. ENST00000399102; ENSP00000382053; ENSG00000185808. ENST00000399103; ENSP00000382054; ENSG00000185808. ENST00000464265; ENSP00000420037; ENSG00000185808.
GeneID	51227.
KEGG	hsa:51227.
UCSC	uc002yvw.1. human.
Organism-specific databases
CTD	51227.
GeneCards	GC21M038435.
HGNC	HGNC:3046. PIGP.
HPA	HPA026921.
MIM	605938. gene.
neXtProt	NX_P57054.
PharmGKB	PA27498.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG133279.
HOVERGEN	HBG000430.
InParanoid	P57054.
KO	K03861.
OMA	PISEVNR.
OrthoDB	EOG4PNXJ8.
PhylomeDB	P57054.
Enzyme and pathway databases
BRENDA	2.4.1.198. 2681.
Reactome	REACT_17015. Metabolism of proteins.
UniPathway	UPA00196.
Gene expression databases
ArrayExpress	P57054.
Bgee	P57054.
CleanEx	HS_PIGP.
Genevestigator	P57054.
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
GenomeRNAi	51227.
NextBio	35535499.
SOURCE	Search...

Entry information

Entry name

PIGP_HUMAN

Accession

Primary (citable) accession number: P57054
Secondary accession number(s): B2RB18 , B2RE99, B5BU92, D3DSG7, J3KR75, Q53Y28, Q96KI1, Q9NZA6

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 1, 2000
Last sequence update:	November 28, 2012
Last modified:	May 1, 2013
This is version 103 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.