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Aliases for PIGN Gene

Aliases for PIGN Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class N 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class N Protein 3 4
  • MCD4 Homolog 3 4
  • PIG-N 3 4
  • MCD4 3 4
  • GPI Ethanolamine Phosphate Transferase 1 3
  • Phosphatidylinositol Glycan, Class N 2
  • EC 2.-.-.- 4
  • MCAHS1 3
  • MCAHS 3
  • MDC4 3

External Ids for PIGN Gene

Previous GeneCards Identifiers for PIGN Gene

  • GC18M059550
  • GC18M059684
  • GC18M057860
  • GC18M057862
  • GC18M056421

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 Fryns Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Post-translational modification- synthesis of GPI-anchored proteins. GO annotations related to this gene include transferase activity and sulfuric ester hydrolase 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

Regulatory Elements for PIGN Gene

Enhancers for PIGN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around PIGN on UCSC Golden Path with GeneCards custom track

Promoters for PIGN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for PIGN Gene

Chromosome:
18
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

Genes around PIGN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for PIGN Gene

  • Ubiquitination at Lys 397
  • Glycosylation at Asn 128, Asn 192, and Asn 350
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIGN Gene

Domains & Families for PIGN Gene

Gene Families for PIGN Gene

Suggested Antigen Peptide Sequences for PIGN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95427

UniProtKB/Swiss-Prot:

PIGN_HUMAN :
  • Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.
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:0016780 phosphotransferase activity, for other substituted phosphate groups TAS --
GO:0051377 mannose-ethanolamine phosphotransferase activity IBA --
genes like me logo Genes that share ontologies with PIGN: view
genes like me logo Genes that share phenotypes with PIGN: view

Human Phenotype Ontology for PIGN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGN

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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 4
plasma membrane 4
cytosol 2
chloroplast 1
golgi apparatus 1

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 & Interactions 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:0006506 GPI anchor biosynthetic process IBA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGN: view

No data available for SIGNOR curated interactions for PIGN Gene

Drugs & Compounds for PIGN Gene

(3) Drugs for PIGN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(841) Additional Compounds for PIGN Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for PIGN Gene

This gene is overexpressed in Placenta (24.4), Peripheral blood mononuclear cells (12.3), Monocytes (9.8), and Platelet (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIGN Gene



Protein tissue co-expression partners for PIGN Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGN Gene:

PIGN

SOURCE GeneReport for Unigene cluster for PIGN Gene:

Hs.157031
genes like me logo Genes that share expression patterns with PIGN: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGN Gene

Orthologs for PIGN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGN Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIGN 34
  • 83.82 (n)
  • 80.62 (a)
PIGN 35
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGN 34
  • 88.94 (n)
  • 85.82 (a)
PIGN 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pign 34
  • 86.32 (n)
  • 87.43 (a)
Pign 16
Pign 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGN 34
  • 99.43 (n)
  • 99.36 (a)
PIGN 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pign 34
  • 86.39 (n)
  • 87.22 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGN 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
-- 35
  • 65 (a)
OneToMany
-- 35
  • 57 (a)
OneToMany
chicken
(Gallus gallus)
Aves PIGN 34
  • 73.67 (n)
  • 71.55 (a)
PIGN 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGN 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pign 34
  • 68.72 (n)
  • 67.78 (a)
zebrafish
(Danio rerio)
Actinopterygii pign 34
  • 64.1 (n)
  • 62.82 (a)
pign 35
  • 62 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2292 36
  • 30 (a)
CG4907 36
  • 28 (a)
CG2292 34
  • 45.22 (n)
  • 35.3 (a)
CG13978 35
  • 24 (a)
OneToMany
CG2292 35
  • 32 (a)
OneToMany
CG4907 35
  • 24 (a)
OneToMany
CG5342 35
  • 22 (a)
OneToMany
CG6790 35
  • 22 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003222 34
  • 46.43 (n)
  • 37.89 (a)
worm
(Caenorhabditis elegans)
Secernentea Y54E10BR.1 36
  • 33 (a)
CELE_Y54E10BR.1 34
  • 48.96 (n)
  • 38.4 (a)
Y54E10BR.1 35
  • 34 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL113C 34
  • 47.89 (n)
  • 40.05 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07249g 34
  • 50.04 (n)
  • 38.7 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MCD4 34
  • 50.17 (n)
  • 40.11 (a)
MCD4 35
  • 38 (a)
OneToOne
MCD4 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G01380 34
  • 49.83 (n)
  • 40.95 (a)
rice
(Oryza sativa)
Liliopsida Os02g0581000 34
  • 46.1 (n)
  • 35.77 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07999 34
  • 48.43 (n)
  • 42.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes its8 34
  • 49.87 (n)
  • 38.58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for PIGN was found in the sources mined by GeneCards:
  • 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
rs17069506 - 62,154,610(+) TCTTT(C/T)AGCAT reference, missense
rs9320001 - 62,147,091(+) ATTGT(C/G)CTTGT reference, missense
rs3862712 -, - 62,113,160(+) TTTTA(A/C/T)AAGGT reference, missense
rs34231046 -, - 62,045,940(+) ACCAA(A/C)AAGAT reference, missense
rs397514475 Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) 62,095,902(-) TCAGC(A/G)ATTGT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1622n106 CNV deletion 24896259
esv2717189 CNV deletion 23290073
esv2717190 CNV deletion 23290073
esv2717191 CNV deletion 23290073
esv2717192 CNV deletion 23290073
esv2717193 CNV deletion 23290073
esv3307664 CNV mobile element insertion 20981092
esv3308328 CNV mobile element insertion 20981092
esv3372987 CNV insertion 20981092
esv33793 CNV loss 17666407
esv3442306 CNV insertion 20981092
esv3555496 CNV deletion 23714750
esv3555497 CNV deletion 23714750
esv3642743 CNV loss 21293372
esv5079 CNV loss 18987735
nsv130647 CNV deletion 16902084
nsv131648 CNV deletion 16902084
nsv474374 CNV novel sequence insertion 20440878
nsv577084 CNV loss 21841781
nsv577085 CNV loss 21841781
nsv833671 CNV gain+loss 17160897

Variation tolerance for PIGN Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGN Gene

Human Gene Mutation Database (HGMD)
PIGN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGN

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

Disorders for PIGN Gene

MalaCards: The human disease database

(5) MalaCards diseases for PIGN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 1
  • mcahs1
fryns syndrome
  • moerman van den berghe fryns syndrome
hypotonia
acute proliferative glomerulonephritis
  • acute glomerulonephritis with lesion of proliferative glomerulonephritis
hypersensitivity vasculitis
  • leukocytoclastic angiitis
- elite association - COSMIC cancer census association via MalaCards
Search PIGN in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for PIGN

Genetic Association Database (GAD)
PIGN
Human Genome Epidemiology (HuGE) Navigator
PIGN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGN
genes like me logo Genes that share disorders with PIGN: view

No data available for Genatlas for PIGN Gene

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 65
  2. 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 65
  3. 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 46 65
  4. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PMID: 19690890) McDonough C.W. … Bowden D.W. (Hum. Genet. 2009) 3 46 65
  5. 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 65

Products for PIGN Gene

Sources for PIGN Gene

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