Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PIGV Gene

Aliases for PIGV Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class V 2 3
  • Dol-P-Man Dependent GPI Mannosyltransferase 2 3
  • GPI Mannosyltransferase II 3 4
  • GPI Mannosyltransferase 2 2 3
  • GPI-MT-II 3 4
  • HPMRS1 3 6
  • PIG-V 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class V Protein 4
  • Phosphatidylinositol Glycan, Class V 2
  • Ybr004c Homolog 3
  • EC 2.4.1.- 4

External Ids for PIGV Gene

Previous GeneCards Identifiers for PIGV Gene

  • GC01P026799
  • GC01P026987
  • GC01P027113
  • GC01P025367

Summaries for PIGV Gene

Entrez Gene Summary for PIGV Gene

  • 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 mental retardation syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for PIGV Gene

PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis, Class V) is a Protein Coding gene. Diseases associated with PIGV include hyperphosphatasia with mental retardation syndrome 1 and hyperphosphatasia with mental retardation syndrome. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include mannosyltransferase activity.

UniProtKB/Swiss-Prot for PIGV Gene

  • Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.

Gene Wiki entry for PIGV Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGV Gene

Genomics for PIGV Gene

Regulatory Elements for PIGV Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PIGV Gene

Start:
26,787,472 bp from pter
End:
26,798,403 bp from pter
Size:
10,932 bases
Orientation:
Plus strand

Genomic View for PIGV Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PIGV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGV Gene

Proteins for PIGV Gene

  • Protein details for PIGV Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUD9-PIGV_HUMAN
    Recommended name:
    GPI mannosyltransferase 2
    Protein Accession:
    Q9NUD9
    Secondary Accessions:
    • D3DPL2
    • Q5JYG7
    • Q5JYG8
    • Q5JYG9
    • Q9NX26

    Protein attributes for PIGV Gene

    Size:
    493 amino acids
    Molecular mass:
    55713 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI21625.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21626.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21627.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for PIGV Gene

Proteomics data for PIGV Gene at MOPED

Post-translational modifications for PIGV Gene

Other Protein References for PIGV Gene

No data available for DME Specific Peptides for PIGV Gene

Domains for PIGV Gene

Gene Families for PIGV Gene

HGNC:
  • DOLPM :Dolichyl D-mannosyl phosphate dependent mannosyltransferases
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

Protein Domains for PIGV Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NUD9

UniProtKB/Swiss-Prot:

PIGV_HUMAN :
  • Q9NUD9
Family:
  • Belongs to the PIGV family.
genes like me logo Genes that share domains with PIGV: view

Function for PIGV Gene

Molecular function for PIGV Gene

UniProtKB/Swiss-Prot Function: Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.

Enzyme Numbers (IUBMB) for PIGV Gene

Gene Ontology (GO) - Molecular Function for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IMP 15623507
GO:0016758 transferase activity, transferring hexosyl groups --
genes like me logo Genes that share ontologies with PIGV: view

Phenotypes for PIGV Gene

GenomeRNAi human phenotypes for PIGV:
genes like me logo Genes that share phenotypes with PIGV: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIGV

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PIGV Gene

Localization for PIGV Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGV Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGV Gene COMPARTMENTS Subcellular localization image for PIGV gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane NAS 15623507
genes like me logo Genes that share ontologies with PIGV: view

Pathways for PIGV Gene

genes like me logo Genes that share pathways with PIGV: view

UniProtKB/Swiss-Prot Q9NUD9-PIGV_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

Interacting Proteins for PIGV Gene

Gene Ontology (GO) - Biological Process for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process IMP 15623507
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with PIGV: view

Compounds for PIGV Gene

(898) HMDB Compounds for PIGV Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
genes like me logo Genes that share compounds with PIGV: view

Transcripts for PIGV Gene

Unigene Clusters for PIGV Gene

Phosphatidylinositol glycan anchor biosynthesis, class V:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PIGV

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIGV Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9 ^ 10
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: -
SP10: - - - - - - - -

Relevant External Links for PIGV Gene

GeneLoc Exon Structure for
PIGV
ECgene alternative splicing isoforms for
PIGV

Expression for PIGV Gene

mRNA expression in normal human tissues for PIGV Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PIGV Gene

SOURCE GeneReport for Unigene cluster for PIGV Gene Hs.259605

genes like me logo Genes that share expressions with PIGV: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGV Gene

Orthologs for PIGV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGV 35
  • 97.11 (n)
  • 96.06 (a)
cow
(Bos Taurus)
Mammalia PIGV 35
  • 88.44 (n)
  • 84.18 (a)
PIGV 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGV 36
  • 83 (a)
OneToOne
ZDHHC18 35
  • 87.63 (n)
  • 83.98 (a)
mouse
(Mus musculus)
Mammalia Pigv 35
  • 82.34 (n)
  • 79.96 (a)
Pigv 16
Pigv 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGV 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGV 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigv 35
  • 83.06 (n)
  • 80.74 (a)
chicken
(Gallus gallus)
Aves PIGV 35
  • 62.1 (n)
  • 59.96 (a)
PIGV 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGV 36
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigv 35
  • 54.41 (n)
  • 50.75 (a)
zebrafish
(Danio rerio)
Actinopterygii pigv 35
  • 55.33 (n)
  • 52.25 (a)
zdhhc18a 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001339 35
  • 47.99 (n)
  • 37.92 (a)
fruit fly
(Drosophila melanogaster)
Insecta veg 35
  • 48.49 (n)
  • 35.66 (a)
veg 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T09B4.1 35
  • 45.97 (n)
  • 30.9 (a)
T09B4.1 36
  • 17 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11880 35
  • 46.52 (n)
  • 35.26 (a)
rice
(Oryza sativa)
Liliopsida Os12g0498700 35
  • 45.07 (n)
  • 35.22 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi18 35
  • 42.36 (n)
  • 31.85 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for PIGV:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGV Gene

ENSEMBL:
Gene Tree for PIGV (if available)
TreeFam:
Gene Tree for PIGV (if available)

Paralogs for PIGV Gene

No data available for Paralogs for PIGV Gene

Variants for PIGV Gene

Sequence variations from dbSNP and Humsavar for PIGV Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3754360 -- 26,797,993(+) AATGG(A/G)AGAAG utr-variant-3-prime
rs3768334 -- 26,791,313(+) AGAAA(C/T)GTGGC intron-variant
rs5008130 -- 26,789,701(-) ATTCT(C/T)TGATC intron-variant
rs7366754 -- 26,795,925(+) gcgat(C/T)tcagc intron-variant
rs11580337 -- 26,786,032(+) CTTGG(G/T)GATGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PIGV Gene

Variant ID Type Subtype PubMed ID
nsv870975 CNV Loss 21882294

Relevant External Links for PIGV Gene

HapMap Linkage Disequilibrium report
PIGV
Human Gene Mutation Database (HGMD)
PIGV

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGV Gene

Disorders for PIGV Gene

(1) OMIM Diseases for PIGV Gene (610274)

UniProtKB/Swiss-Prot

PIGV_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. {ECO:0000269 PubMed:20802478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PIGV Gene

genes like me logo Genes that share disorders with PIGV: view

Publications for PIGV Gene

  1. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. (PMID: 15623507) Kang J.Y. … Kinoshita T. (J. Biol. Chem. 2005) 2 3 4
  2. Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly. (PMID: 15720390) Fabre A.-L. … Taron C.H. (FEBS J. 2005) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for PIGV Gene

Sources for PIGV Gene

Back to Top

Content