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Aliases for PIGN Gene

Aliases for PIGN Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class N 2 3
  • Phosphatidylinositol-Glycan Biosynthesis Class N Protein 3 4
  • MCD4 Homolog 3 4
  • MCAHS1 3 6
  • PIG-N 3 4
  • MCD4 3 4
  • GPI Ethanolamine Phosphate Transferase 1 3
  • Phosphatidylinositol Glycan, Class N 2
  • EC 2.-.-.- 4
  • MCAHS 3
  • MDC4 3

External Ids for PIGN Gene

Summaries for PIGN Gene

Entrez Gene Summary for PIGN Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGN Gene

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis, Class N) is a Protein Coding gene. Diseases associated with PIGN include multiple congenital anomalies-hypotonia-seizures syndrome 1 and multiple congenital anomalies - hypotonia - seizures 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 transferase activity.

UniProtKB/Swiss-Prot for PIGN Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

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

Genomics for PIGN Gene

Genomic Location for PIGN Gene

Start:
62,043,567 bp from pter
End:
62,187,118 bp from pter
Size:
143,552 bases
Orientation:
Minus strand

Genomic View for PIGN Gene

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

RefSeq DNA sequence for PIGN Gene

Regulatory Elements for PIGN Gene

Proteins for PIGN Gene

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

    Protein Symbol:
    O95427-PIGN_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 1
    Protein Accession:
    O95427
    Secondary Accessions:
    • Q7L8F8
    • Q8TC01
    • Q9NT05

    Protein attributes for PIGN Gene

    Size:
    931 amino acids
    Molecular mass:
    105810 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGN Gene

Proteomics data for PIGN Gene at MOPED

Post-translational modifications for PIGN Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys397
  • Glycosylation at Asn128, Asn192, and Asn350

No data available for DME Specific Peptides for PIGN Gene

Domains for PIGN Gene

Gene Families for PIGN Gene

HGNC:
  • PIG :Phosphatidylinositol glycan anchor biosynthesis

UniProtKB/Swiss-Prot:

PIGN_HUMAN
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.:
    • O95427
genes like me logo Genes that share domains with PIGN: view

Function for PIGN Gene

Molecular function for PIGN Gene

UniProtKB/Swiss-Prot Function: Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

Enzyme Numbers (IUBMB) for PIGN Gene

Gene Ontology (GO) - Molecular Function for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0008484 sulfuric ester hydrolase activity --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PIGN: view
genes like me logo Genes that share phenotypes with PIGN: view

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

Localization for PIGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGN Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGN Gene COMPARTMENTS Subcellular localization image for PIGN gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
plasma membrane 3
chloroplast 2

Gene Ontology (GO) - Cellular Components for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGN: view

Pathways for PIGN Gene

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

UniProtKB/Swiss-Prot O95427-PIGN_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis

Gene Ontology (GO) - Biological Process for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006501 C-terminal protein lipidation TAS --
GO:0006506 GPI anchor biosynthetic process --
GO:0008152 metabolic process --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PIGN: view

Compounds for PIGN Gene

(898) HMDB Compounds for PIGN 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 PIGN: view

Transcripts for PIGN Gene

Unigene Clusters for PIGN Gene

Phosphatidylinositol glycan anchor biosynthesis, class N:
Representative Sequences:

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

No ASD Table

Relevant External Links for PIGN Gene

GeneLoc Exon Structure for
PIGN
ECgene alternative splicing isoforms for
PIGN

Expression for PIGN Gene

mRNA expression in normal human tissues for PIGN Gene

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

SOURCE GeneReport for Unigene cluster for PIGN Gene Hs.157031

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

Orthologs for PIGN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGN 36
  • 99.43 (n)
  • 99.36 (a)
PIGN 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PIGN 36
  • 83.82 (n)
  • 80.62 (a)
PIGN 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGN 36
  • 88.94 (n)
  • 85.82 (a)
PIGN 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pign 36
  • 86.32 (n)
  • 87.43 (a)
Pign 16
Pign 37
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGN 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 74 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
-- 37
  • 65 (a)
OneToMany
-- 37
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pign 36
  • 86.39 (n)
  • 87.22 (a)
chicken
(Gallus gallus)
Aves PIGN 36
  • 73.67 (n)
  • 71.55 (a)
PIGN 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGN 37
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pign 36
  • 68.72 (n)
  • 67.78 (a)
zebrafish
(Danio rerio)
Actinopterygii pign 36
  • 64.1 (n)
  • 62.82 (a)
pign 37
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003222 36
  • 46.43 (n)
  • 37.89 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG13978 37
  • 24 (a)
OneToMany
CG2292 36
  • 45.22 (n)
  • 35.3 (a)
CG2292 37
  • 32 (a)
OneToMany
CG4907 37
  • 24 (a)
OneToMany
CG5342 37
  • 22 (a)
OneToMany
CG6790 37
  • 22 (a)
OneToMany
CG2292 38
  • 30 (a)
CG4907 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y54E10BR.1 36
  • 48.96 (n)
  • 38.4 (a)
Y54E10BR.1 37
  • 34 (a)
OneToOne
Y54E10BR.1 38
  • 33 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL113C 36
  • 47.89 (n)
  • 40.05 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCD4 36
  • 50.17 (n)
  • 40.11 (a)
MCD4 37
  • 38 (a)
OneToOne
MCD4 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07249g 36
  • 50.04 (n)
  • 38.7 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G01380 36
  • 49.83 (n)
  • 40.95 (a)
rice
(Oryza sativa)
Liliopsida Os02g0581000 36
  • 46.1 (n)
  • 35.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07999 36
  • 48.43 (n)
  • 42.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes its8 36
  • 49.87 (n)
  • 38.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 44 (a)
OneToOne
Species with no ortholog for PIGN:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • 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 PIGN Gene

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

Paralogs for PIGN Gene

No data available for Paralogs for PIGN Gene

Variants for PIGN Gene

Sequence variations from dbSNP and Humsavar for PIGN Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs15675 -- 62,152,391(+) ggtat(A/T)atgag intron-variant
rs478161 -- 62,070,137(+) caaAA(C/T)GACTA intron-variant
rs495113 -- 62,057,689(+) TCCCA(A/G)TTCTT intron-variant
rs514473 -- 62,063,320(-) TTTGG(A/C)TAAAA intron-variant
rs514631 -- 62,063,264(-) TTTGG(A/C)TAAAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833671 CNV Gain+Loss 17160897
esv272602 CNV Insertion 20981092
esv271938 CNV Insertion 20981092
esv2717189 CNV Deletion 23290073
esv2717190 CNV Deletion 23290073
esv5079 CNV Deletion 18987735
nsv130647 CNV Loss 16902084
esv33793 CNV Loss 17666407
esv2717191 CNV Deletion 23290073
esv2717192 CNV Deletion 23290073
esv2717193 CNV Deletion 23290073
nsv131648 CNV Loss 16902084

Relevant External Links for PIGN Gene

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

Disorders for PIGN Gene

(1) OMIM Diseases for PIGN Gene (606097)

UniProtKB/Swiss-Prot

PIGN_HUMAN
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269 PubMed:21493957}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for PIGN Gene

Relevant External Links for PIGN

Genetic Association Database (GAD)
PIGN
Human Genome Epidemiology (HuGE) Navigator
PIGN
genes like me logo Genes that share disorders with PIGN: view

Publications for PIGN Gene

  1. MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast. (PMID: 10069808) Gaynor E.C. … Emr S.D. (Mol. Biol. Cell 1999) 2 3 4
  2. Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. (PMID: 10574991) Hong Y. … Kinoshita T. (J. Biol. Chem. 1999) 2 3
  3. 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
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. (PMID: 21493957) Maydan G. … Basel-Vanagaite L. (J. Med. Genet. 2011) 3 4

Products for PIGN Gene

Sources for PIGN Gene

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