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Reviewed, UniProtKB/Swiss-Prot P57054 (PIGP_HUMAN)

Last modified June 16, 2009. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length158 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence 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 processGPI-anchor biosynthesis
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainTransmembrane
   Molecular functionGlycosyltransferase
Transferase
   Technical termDirect protein sequencing
Gene Ontology (GO)
   Biological processpreassembly of GPI anchor in ER membrane

Inferred from Experiment. Source: Reactome

   Cellular componentintegral to membrane

Non-traceable author statement. Source: UniProtKB

   Molecular functionphosphatidylinositol 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 158158Phosphatidylinositol N-acetylglucosaminyltransferase subunit P
PRO_0000191783

Regions

Transmembrane40 – 6021 Potential
Transmembrane80 – 10021 Potential

Natural variations

Alternative sequence1 – 5050Missing in isoform C.
VSP_004203
Alternative sequence1 – 2424Missing in isoform A.
VSP_004202
Alternative sequence51 – 522FI → MV in isoform C.
VSP_004204
Natural variant1181Y → C: dbSNP rs16994704.
VAR_050538
Natural variant1361R → S: dbSNP rs2276231.
VAR_050539

Experimental info

Sequence conflict31P → S in BAA96872. Ref.1
Sequence conflict901I → V in BAA96873. Ref.1
Sequence conflict901I → V in AAF32289. Ref.2

Sequences

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

Last modified December 6, 2005. Version 2.
Checksum: 9309CEAC1DD777CF

FASTA15818,089
        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 

« Hide

Isoform A.

Checksum: 47A2122FA663EB64
Show »

FASTA13415,408
Isoform C (DCRC-S).

Checksum: CF1E65158429EE48
Show »

FASTA10812,510

References

« Hide '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. expand/collapse author list , 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

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.
IPIIPI00171720.
IPI00304806.
IPI00414749.
PIRJC7301.
JC7302.
RefSeqNP_710148.1.
NP_710149.1.
UniGeneHs.656565

3D structure databases

ModBaseSearch...

Genome annotation databases

EnsemblENSG00000185808. Homo sapiens. [Contig view]
GeneID51227.
KEGGhsa:51227.

Organism-specific databases

GeneCardsGC21M037360.
H-InvDBHIX0016106.
HGNCHGNC:3046. PIGP.
MIM605938. gene.
PharmGKBPA27498.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP57054.
HOVERGENP57054.

Enzyme and pathway databases

BRENDA2.4.1.198. 247.
ReactomeREACT_1069. Post-translational protein modification.

Gene expression databases

ArrayExpressP57054.
BgeeP57054.
CleanExHS_PIGP.
GermOnlineENSG00000185808. Homo sapiens.

Family and domain databases

InterProIPR013717. PIG-P.
IPR016542. PIG-P_GPI19.
[Graphical view]
PfamPF08510. PIG-P. 1 hit.
[Graphical view]
PIRSFPIRSF008765. PIG-P_GPI19. 1 hit.
ProtoNetSearch...

Other Resources

NextBio54318.
SOURCESearch...

Entry information

Entry namePIGP_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents