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Aliases for PIGZ Gene

Aliases for PIGZ Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class Z 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class Z Protein 3 4
  • Dol-P-Man Dependent GPI Mannosyltransferase 2 3
  • Phosphatidylinositol Glycan, Class Z 2 3
  • GPI Mannosyltransferase IV 3 4
  • GPI Mannosyltransferase 4 2 3
  • GPI-MT-IV 3 4
  • PIG-Z 3 4
  • SMP3 3 4
  • SMP3 Mannosyltransferase 3
  • SMP3 Homolog 4
  • EC 2.4.1.- 4
  • EC 2.4.1 61
  • HSMP3 4

External Ids for PIGZ Gene

Previous GeneCards Identifiers for PIGZ Gene

  • GC03M198162
  • GC03M196673
  • GC03M193973

Summaries for PIGZ Gene

Entrez Gene Summary for PIGZ Gene

  • The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGZ Gene

PIGZ (Phosphatidylinositol Glycan Anchor Biosynthesis Class Z) is a Protein Coding gene. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. GO annotations related to this gene include transferase activity, transferring glycosyl groups and alpha-1,2-mannosyltransferase activity.

UniProtKB/Swiss-Prot for PIGZ Gene

  • Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.

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

Genomics for PIGZ Gene

Regulatory Elements for PIGZ Gene

Enhancers for PIGZ 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
GH03G196938 1.2 ENCODE 18.3 +26.7 26683 7.3 MLX CREB3L1 AGO1 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC NCBP2-AS2 PIGZ SENP5 NCBP2-AS1 NCBP2
GH03G196968 1.7 FANTOM5 ENCODE dbSUPER 10.8 -0.3 -333 2.4 HNRNPUL1 PKNOX1 CREB3L1 AGO1 SIN3A ZNF48 ZNF766 GLIS2 ZNF207 ZNF143 LOC220729 UBXN7-AS1 ENSG00000249626 MELTF-AS1 PIGZ SENP5 NCBP2-AS2 NRROS GC03P196980
GH03G197001 1.2 ENCODE dbSUPER 12.2 -34.8 -34847 4.0 HDGF PKNOX1 CREB3L1 AGO1 ELK1 ZNF143 ZNF207 REST TBX21 ZNF592 PIGZ MELTF RPSAP69 GC03P197002
GH03G196960 1.2 ENCODE dbSUPER 10.5 +6.7 6659 3.1 FOXA2 MLX ARID4B DMAP1 SLC30A9 GATA2 FOS PAF1 SP5 MXD4 PIGZ NCBP2-AS2
GH03G196983 1.4 ENCODE dbSUPER 9 -18.8 -18831 7.9 HDGF FOXA2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 SLC30A9 NCBP2-AS1 NCBP2 PIGZ PAK2 RPSAP69 MELTF-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGZ on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGZ Gene

Chromosome:
3
Start:
196,946,343 bp from pter
End:
196,969,060 bp from pter
Size:
22,718 bases
Orientation:
Minus strand

Genomic View for PIGZ Gene

Genes around PIGZ on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGZ Gene

Proteins for PIGZ Gene

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

    Protein Symbol:
    Q86VD9-PIGZ_HUMAN
    Recommended name:
    GPI mannosyltransferase 4
    Protein Accession:
    Q86VD9
    Secondary Accessions:
    • Q9H9G6

    Protein attributes for PIGZ Gene

    Size:
    579 amino acids
    Molecular mass:
    63471 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGZ Gene

Selected DME Specific Peptides for PIGZ Gene

Q86VD9:
  • PDEFFQS
  • HQEARFL

Post-translational modifications for PIGZ Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PIGZ Gene

Protein Domains for PIGZ Gene

Suggested Antigen Peptide Sequences for PIGZ Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86VD9

UniProtKB/Swiss-Prot:

PIGZ_HUMAN :
  • Belongs to the glycosyltransferase 22 family. PIGZ subfamily.
Family:
  • Belongs to the glycosyltransferase 22 family. PIGZ subfamily.
genes like me logo Genes that share domains with PIGZ: view

Function for PIGZ Gene

Molecular function for PIGZ Gene

UniProtKB/Swiss-Prot Function:
Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers a fourth mannose to some trimannosyl-GPIs during GPI precursor assembly. The presence of a fourth mannose in GPI is facultative and only scarcely detected, suggesting that it only exists in some tissues.

Enzyme Numbers (IUBMB) for PIGZ Gene

Gene Ontology (GO) - Molecular Function for PIGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000026 alpha-1,2-mannosyltransferase activity IMP 15208306
GO:0000030 mannosyltransferase activity IGI 15208306
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with PIGZ: view
genes like me logo Genes that share phenotypes with PIGZ: view

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PIGZ Gene

Localization for PIGZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGZ 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 PIGZ gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 15208306
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGZ: view

Pathways & Interactions for PIGZ Gene

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

Pathways by source for PIGZ Gene

UniProtKB/Swiss-Prot Q86VD9-PIGZ_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Interacting Proteins for PIGZ Gene

Gene Ontology (GO) - Biological Process for PIGZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IMP 15208306
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with PIGZ: view

No data available for SIGNOR curated interactions for PIGZ Gene

Drugs & Compounds for PIGZ Gene

(3) Drugs for PIGZ 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 0

(841) Additional Compounds for PIGZ 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 PIGZ: view

Transcripts for PIGZ Gene

Unigene Clusters for PIGZ Gene

Phosphatidylinositol glycan anchor biosynthesis, class Z:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4
SP1: - -
SP2: -
SP3:

Relevant External Links for PIGZ Gene

GeneLoc Exon Structure for
PIGZ
ECgene alternative splicing isoforms for
PIGZ

Expression for PIGZ Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PIGZ Gene

This gene is overexpressed in Colon - Transverse (x8.2).

Protein differential expression in normal tissues from HIPED for PIGZ Gene

This gene is overexpressed in Platelet (69.0).

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



Protein tissue co-expression partners for PIGZ Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGZ Gene:

PIGZ

SOURCE GeneReport for Unigene cluster for PIGZ Gene:

Hs.518403

mRNA Expression by UniProt/SwissProt for PIGZ Gene:

Q86VD9-PIGZ_HUMAN
Tissue specificity: Widely expressed at low level, with highest level in brain and colon.

Evidence on tissue expression from TISSUES for PIGZ Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with PIGZ: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGZ Gene

Orthologs for PIGZ Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIGZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGZ 34
  • 97.8 (n)
dog
(Canis familiaris)
Mammalia PIGZ 34 35
  • 83.39 (n)
cow
(Bos Taurus)
Mammalia LOC525407 34
  • 83.36 (n)
PIGZ 35
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigz 34 16 35
  • 81.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGZ 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGZ 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGZ 34 35
  • 56.49 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pigz 34
  • 51.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3419 35
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMP3 35
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for PIGZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PIGZ Gene

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

Paralogs for PIGZ Gene

No data available for Paralogs for PIGZ Gene

Variants for PIGZ Gene

Sequence variations from dbSNP and Humsavar for PIGZ Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000199592 -- 196,961,607(+) TGATC(A/G)TGTCA intron-variant
rs1000261185 -- 196,955,647(+) TCTTG(A/G)CTCAC intron-variant
rs1000420460 -- 196,949,878(+) GAGCC(A/G)CATCT intron-variant
rs1000476997 -- 196,967,955(+) TCTCA(A/G)TTTTC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000533790 -- 196,959,626(+) CTACT(A/G)CCTTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv8850n54 CNV gain 21841781
dgv8851n54 CNV loss 21841781
dgv8852n54 CNV gain 21841781
dgv8853n54 CNV gain+loss 21841781
esv2763775 CNV gain+loss 21179565
esv29616 CNV loss 19812545
esv3599293 CNV gain 21293372
nsv1003135 CNV gain 25217958
nsv1114474 CNV deletion 24896259
nsv593086 CNV loss 21841781
nsv593087 CNV gain 21841781
nsv593095 CNV gain 21841781
nsv593096 CNV gain 21841781
nsv822421 CNV loss 20364138

Variation tolerance for PIGZ Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.00; 80.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGZ Gene

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

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

Disorders for PIGZ Gene

Relevant External Links for PIGZ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGZ

No disorders were found for PIGZ Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIGZ Gene

Publications for PIGZ Gene

  1. Human Smp3p adds a fourth mannose to yeast and human glycosylphosphatidylinositol precursors in vivo. (PMID: 15208306) Taron B.W. … Taron C.H. (J. Biol. Chem. 2004) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64
  4. The essential Smp3 protein is required for addition of the side-branching fourth mannose during assembly of yeast glycosylphosphatidylinositols. (PMID: 11356840) Grimme S.J. … Orlean P. (J. Biol. Chem. 2001) 3 22 64
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 64

Products for PIGZ Gene

Sources for PIGZ Gene

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