Human Gene PIGV (uc001bmz.3) Description and Page Index
  Description: Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.
RefSeq Summary (NM_017837): This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011].
Transcript (Including UTRs)
   Position: hg19 chr1:27,114,454-27,124,894 Size: 10,441 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr1:27,117,307-27,124,335 Size: 7,029 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr1:27,114,454-27,124,894)mRNA (may differ from genome)Protein (493 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=GPI mannosyltransferase 2; EC=2.4.1.-; AltName: Full=GPI mannosyltransferase II; Short=GPI-MT-II; AltName: Full=Phosphatidylinositol-glycan biosynthesis class V protein; Short=PIG-V;
FUNCTION: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol- anchor biosynthesis.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
PTM: Not N-glycosylated.
DISEASE: Defects in PIGV are the cause of hyperphosphatasia with mental retardation type 1 (HPMRS1) [MIM:239300]. It is a syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges.
SIMILARITY: Belongs to the PIGV family.
SEQUENCE CAUTION: Sequence=CAI21625.1; Type=Erroneous gene model prediction; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Sequence=CAI21627.1; Type=Erroneous gene model prediction;

-  MalaCards Disease Associations
  MalaCards Gene Search: PIGV
Diseases sorted by gene-association score: hyperphosphatasia with mental retardation syndrome 1* (1330), hyperphosphatasia-intellectual disability syndrome* (202), hyperphosphatasia with mental retardation syndrome* (140), glycosylphosphatidylinositol deficiency (10), epileptic encephalopathy, early infantile, 9 (7), hypophosphatasia, infantile (7), hirschsprung disease 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.04 RPKM in Testis
Total median expression: 243.87 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -173.30363-0.477 Picture PostScript Text
3' UTR -147.69559-0.264 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007315 - GPI_Mannosyltransferase_2-like

Pfam Domains:
PF04188 - Mannosyltransferase (PIG-V)

ModBase Predicted Comparative 3D Structure on Q9NUD9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000030 mannosyltransferase activity
GO:0004376 glycolipid mannosyltransferase activity
GO:0004584 dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0006506 GPI anchor biosynthetic process
GO:0016254 preassembly of GPI anchor in ER membrane
GO:0097502 mannosylation

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031501 mannosyltransferase complex

-  Descriptions from all associated GenBank mRNAs
  BC013568 - Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V, mRNA (cDNA clone MGC:8856 IMAGE:3890907), complete cds.
JD129431 - Sequence 110455 from Patent EP1572962.
JD205805 - Sequence 186829 from Patent EP1572962.
JD166789 - Sequence 147813 from Patent EP1572962.
AK301626 - Homo sapiens cDNA FLJ51354 complete cds, highly similar to GPI mannosyltransferase 2 (EC 2.4.1.-).
AK000484 - Homo sapiens cDNA FLJ20477 fis, clone KAT07271.
AK225521 - Homo sapiens mRNA for phosphatidylinositol glycan class V variant, clone: KAT07271.
AK056539 - Homo sapiens cDNA FLJ31977 fis, clone NT2RP7008396, weakly similar to Drosophila melanogaster Vegetable (veg) mRNA.
JD282826 - Sequence 263850 from Patent EP1572962.
KJ894226 - Synthetic construct Homo sapiens clone ccsbBroadEn_03620 PIGV gene, encodes complete protein.
DQ588168 - Homo sapiens piRNA piR-55280, complete sequence.
DQ597586 - Homo sapiens piRNA piR-35652, complete sequence.
DQ598062 - Homo sapiens piRNA piR-36128, complete sequence.
AK097053 - Homo sapiens cDNA FLJ39734 fis, clone SMINT2016146.
JD403211 - Sequence 384235 from Patent EP1572962.
JD468721 - Sequence 449745 from Patent EP1572962.
JD539224 - Sequence 520248 from Patent EP1572962.
JD060080 - Sequence 41104 from Patent EP1572962.
JD527393 - Sequence 508417 from Patent EP1572962.
JD490815 - Sequence 471839 from Patent EP1572962.
JD097095 - Sequence 78119 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00563 - Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein Q9NUD9 (Reactome details) participates in the following event(s):

R-HSA-162873 (ethanolamineP) mannose (a1-4) glucosaminyl-acyl-PI + dolichol phosphate D-mannose -> mannose (a1-6) (ethanolamineP) mannose (a1-4) glucosaminyl-acyl-PI + dolichol phosphate
R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
R-HSA-163125 Post-translational modification: synthesis of GPI-anchored proteins
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: D3DPL2, NM_017837, NP_060307, PIGV_HUMAN, Q5JYG7, Q5JYG8, Q5JYG9, Q9NUD9, Q9NX26
UCSC ID: uc001bmz.3
RefSeq Accession: NM_017837
Protein: Q9NUD9 (aka PIGV_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_017837.3
exon count: 4CDS single in 3' UTR: no RNA size: 2424
ORF size: 1482CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2863.00frame shift in genome: no % Coverage: 99.17
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.