The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008] See more...

Aliases for PIGU Gene

Aliases for PIGU Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class U 2 3 5
  • Phosphatidylinositol Glycan Anchor Biosynthesis Class U Protein 3 4
  • CDC91 (Cell Division Cycle 91, S. Cerevisiae, Homolog)-Like 1 2 3
  • Cell Division Cycle Protein 91-Like 1 3 4
  • GPI Transamidase Component PIG-U 3 4
  • GPI Transamidase Subunit 2 3
  • Protein CDC91-Like 1 3 4
  • CDC91L1 3 4
  • CDC91 Cell Division Cycle 91-Like 1 (S. Cerevisiae) 2
  • Cell Division Cycle 91-Like 1 Protein 3
  • GPIBD21 3
  • GAB1 3

External Ids for PIGU Gene

Previous HGNC Symbols for PIGU Gene

  • CDC91L1

Previous GeneCards Identifiers for PIGU Gene

  • GC20M032613
  • GC20M033148
  • GC20M029928

Summaries for PIGU Gene

Entrez Gene Summary for PIGU Gene

  • The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGU Gene

PIGU (Phosphatidylinositol Glycan Anchor Biosynthesis Class U) is a Protein Coding gene. Diseases associated with PIGU include Glycosylphosphatidylinositol Biosynthesis Defect 21. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include GPI anchor binding and GPI-anchor transamidase activity.

UniProtKB/Swiss-Prot Summary for PIGU Gene

  • Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI.

Gene Wiki entry for PIGU Gene

Additional gene information for PIGU Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGU Gene

Genomics for PIGU Gene

GeneHancer (GH) Regulatory Elements for PIGU Gene

Promoters and enhancers for PIGU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J034675 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 524.5 +21.7 21689 3 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G SP1 GTF2E2 PHF8 PIGU lnc-NCOA6-4 piR-60051-065 PROCR MYH7B
GH20J034557 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 25.4 +139.4 139432 3.1 PHF8 JUND POLR2A NR2F2 CTCF POLR2G RFX5 NBN USF1 SMARCA5 MAP1LC3A PIGU NCOA6 EIF6 MMP24OS ITCH RF00017-3557
GH20J034823 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 25.7 -126.3 -126311 2.6 HNRNPK EP300 ZSCAN5C SIN3A NRF1 POLR2G USF1 SP1 GTF2E2 PHF8 NCOA6 PIGU MAP1LC3A GGT7 piR-43105-375
GH20J034872 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.7 -175.7 -175711 7.4 EP300 FOXK2 HNRNPK ZNF217 CTCF NRF1 POLR2G SP1 NCOR1 PHF8 ACSS2 GGT7 PIGU MAP1LC3A PROCR NCOA6 piR-43103-031
GH20J034514 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 17.2 +182.6 182551 3.5 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 ZFX DYNLRB1 MAP1LC3A PIGU TRPC4AP NCOA6 TP53INP2 PROCR ITCH piR-56580-027
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGU on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGU

Top Transcription factor binding sites by QIAGEN in the PIGU gene promoter:
  • AREB6
  • FAC1
  • Pax-4a
  • POU3F2
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT3

Genomic Locations for PIGU Gene

Genomic Locations for PIGU Gene
chr20:34,560,542-34,698,790
(GRCh38/hg38)
Size:
138,249 bases
Orientation:
Minus strand
chr20:33,148,346-33,265,089
(GRCh37/hg19)
Size:
116,744 bases
Orientation:
Minus strand

Genomic View for PIGU Gene

Genes around PIGU on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGU Gene

Proteins for PIGU Gene

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

    Protein Symbol:
    Q9H490-PIGU_HUMAN
    Recommended name:
    Phosphatidylinositol glycan anchor biosynthesis class U protein
    Protein Accession:
    Q9H490
    Secondary Accessions:
    • Q7Z489
    • Q8N2F2

    Protein attributes for PIGU Gene

    Size:
    435 amino acids
    Molecular mass:
    50052 Da
    Quaternary structure:
    • Forms a complex with PIGK/GPI8, PIGS, PIGT and GPAA1/GAA1.

    Alternative splice isoforms for PIGU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGU Gene

Post-translational modifications for PIGU Gene

  • Ubiquitination at Lys42 and Lys111
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGU Gene

No data available for DME Specific Peptides for PIGU Gene

Domains & Families for PIGU Gene

Protein Domains for PIGU Gene

Blocks:
  • GPI transamidase subunit PIG-U
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGU Gene

GenScript: Design optimal peptide antigens:
  • GPI transamidase component PIG-U (PIGU_HUMAN)
  • CDC91 cell division cycle 91-like 1 (S. cerevisiae) (Q5JWU1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H490

UniProtKB/Swiss-Prot:

PIGU_HUMAN :
  • Belongs to the PIGU family.
Family:
  • Belongs to the PIGU family.
genes like me logo Genes that share domains with PIGU: view

Function for PIGU Gene

Molecular function for PIGU Gene

UniProtKB/Swiss-Prot Function:
Component of the GPI transamidase complex. May be involved in the recognition of either the GPI attachment signal or the lipid portion of GPI.

Phenotypes From GWAS Catalog for PIGU Gene

Gene Ontology (GO) - Molecular Function for PIGU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003923 contributes_to GPI-anchor transamidase activity IMP 12802054
GO:0034235 contributes_to GPI anchor binding IMP 12802054
genes like me logo Genes that share ontologies with PIGU: view
genes like me logo Genes that share phenotypes with PIGU: view

Animal Models for PIGU Gene

MGI Knock Outs for PIGU:
  • Pigu Pigu<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for PIGU Gene

miRTarBase miRNAs that target PIGU

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIGU Gene

Localization for PIGU Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGU Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGU gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IDA 15034568
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGU: view

Pathways & Interactions for PIGU Gene

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

UniProtKB/Swiss-Prot Q9H490-PIGU_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IDA 15034568
GO:0016255 attachment of GPI anchor to protein IBA,TAS 11483512
GO:0034394 protein localization to cell surface IBA 21873635
GO:0046425 regulation of JAK-STAT cascade IDA 15034568
genes like me logo Genes that share ontologies with PIGU: view

No data available for SIGNOR curated interactions for PIGU Gene

Drugs & Compounds for PIGU Gene

(4) Drugs for PIGU Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phytosphingosine Experimental Pharma 0
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

(893) Additional Compounds for PIGU Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
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 PIGU: view

Transcripts for PIGU Gene

mRNA/cDNA for PIGU Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for PIGU Gene

GeneLoc Exon Structure for
PIGU

Expression for PIGU Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGU Gene

Protein differential expression in normal tissues from HIPED for PIGU Gene

This gene is overexpressed in Blymphocyte (8.0), Testis (7.8), Monocytes (7.8), and Fetal testis (7.5).

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



Protein tissue co-expression partners for PIGU Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGU

SOURCE GeneReport for Unigene cluster for PIGU Gene:

Hs.253319

Evidence on tissue expression from TISSUES for PIGU Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with PIGU: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGU Gene

Orthologs for PIGU Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGU 31 30
  • 99.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGU 31 30
  • 95.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGU 31 30
  • 93.27 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigu 30
  • 92.39 (n)
mouse
(Mus musculus)
Mammalia Pigu 17 31 30
  • 92.07 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGU 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGU 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGU 31 30
  • 79.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGU 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigu 30
  • 71.31 (n)
zebrafish
(Danio rerio)
Actinopterygii pigu 31 30
  • 71.87 (n)
OneToOne
wufb79e06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5070 30
fruit fly
(Drosophila melanogaster)
Insecta CG13089 31 30
  • 49.46 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008074 30
  • 48.79 (n)
worm
(Caenorhabditis elegans)
Secernentea T22C1.3 31 30
  • 43.9 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL273C 30
  • 47.33 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAB1 33 31 30
  • 45.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E04907g 30
  • 43.97 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G63110 30
  • 48.92 (n)
rice
(Oryza sativa)
Liliopsida Os02g0688900 30
  • 46.84 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00924 30
  • 52.98 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1952.01 30
  • 43.99 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 28 (a)
OneToOne
Species where no ortholog for PIGU 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)
  • 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 PIGU Gene

ENSEMBL:
Gene Tree for PIGU (if available)
TreeFam:
Gene Tree for PIGU (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGU: view image

Paralogs for PIGU Gene

Pseudogenes.org Pseudogenes for PIGU Gene

genes like me logo Genes that share paralogs with PIGU: view

No data available for Paralogs for PIGU Gene

Variants for PIGU Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGU Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
689723 Pathogenic: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 34,645,321(-) A/T MISSENSE_VARIANT
689724 Pathogenic: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21 34,575,149(-) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PIGU Gene

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

Variant ID Type Subtype PubMed ID
dgv2244n106 CNV deletion 24896259
dgv7561n54 CNV loss 21841781
dgv7562n54 CNV gain 21841781
esv22551 CNV loss 19812545
esv2546222 CNV deletion 19546169
esv2672886 CNV deletion 23128226
esv2722356 CNV deletion 23290073
esv3557023 CNV deletion 23714750
esv3645703 CNV loss 21293372
esv3645704 CNV loss 21293372
esv989025 CNV deletion 20482838
nsv180489 CNV deletion 16902084
nsv3359 CNV deletion 18451855
nsv3360 CNV insertion 18451855
nsv512614 CNV loss 21212237
nsv585931 CNV loss 21841781
nsv585933 CNV gain 21841781
nsv585940 CNV loss 21841781
nsv585941 CNV loss 21841781
nsv585942 CNV loss 21841781

Variation tolerance for PIGU Gene

Residual Variation Intolerance Score: 34.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGU Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGU

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGU Gene

MalaCards: The human disease database

(1) MalaCards diseases for PIGU Gene - From: OMIM, ClinVar, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PIGU in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIGU

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PIGU Gene

Publications for PIGU Gene

  1. Human PIG-U and yeast Cdc91p are the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. (PMID: 12802054) Hong Y … Kinoshita T (Molecular biology of the cell 2003) 2 3 4 54
  2. Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study. (PMID: 20224305) Debniak T … Lubiński J (Melanoma research 2010) 3 41 54
  3. Common sequence variants on 20q11.22 confer melanoma susceptibility. (PMID: 18488026) Brown KM … Hayward NK (Nature genetics 2008) 3 41 54
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for PIGU Gene

Sources for PIGU Gene