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Aliases for PIGX Gene

Aliases for PIGX Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class X 2 3 5
  • PIG-X 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class X Protein 3
  • Phosphatidylinositol Glycan, Class X 2
  • GPI-Mannosyltransferase Subunit 3

External Ids for PIGX Gene

Previous GeneCards Identifiers for PIGX Gene

  • GC03P197928
  • GC03P196367
  • GC03P193735
  • GC03P196369
  • GC03P196372

Summaries for PIGX Gene

Entrez Gene Summary for PIGX Gene

  • This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneCards Summary for PIGX Gene

PIGX (Phosphatidylinositol Glycan Anchor Biosynthesis Class X) is a Protein Coding gene. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis.

UniProtKB/Swiss-Prot for PIGX Gene

  • Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity).

Additional gene information for PIGX Gene

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

Genomics for PIGX Gene

GeneHancer (GH) Regulatory Elements for PIGX Gene

Promoters and enhancers for PIGX 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
GH03I196710 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.2 +72.5 72451 3 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF207 ZNF143 CEP19 PIGX WDR53 SDHAP1 RNF168 UBXN7 ENSG00000249626 RNU6-646P
GH03I196687 Enhancer 1 Ensembl ENCODE dbSUPER 11.8 +48.7 48726 1.4 MAX CEBPB EBF1 CEBPG GABPA ZFHX2 ATF4 POLR2A EGR1 ETV6 CEP19 PIGX LINC01063 RNU6-42P MELTF-AS1 GC03M196709
GH03I196726 Enhancer 0.5 ENCODE 22.7 +87.3 87300 1 JUND ZNF189 JUN INSM2 FEZF1 ZNF600 PRDM1 PIGX CEP19 TM4SF19 RNU6-910P PAK2
GH03I196689 Enhancer 1.1 Ensembl ENCODE dbSUPER 9.4 +52.8 52825 6 CTCF HNRNPUL1 KLF1 TEAD4 ZSCAN4 CDC5L RAD21 ZFHX2 ZNF316 EGR1 UBXN7 SDHAP1 RNF168 LINC01063 ENSG00000230732 LOC220729 PIGX RNU6-910P TM4SF19 CEP19
GH03I196739 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 5 +101.1 101106 3.5 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF207 PAK2 RPL36P7 PIGX GC03M196744
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGX on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIGX gene promoter:

Genomic Locations for PIGX Gene

Genomic Locations for PIGX Gene
chr3:196,639,775-196,736,007
(GRCh38/hg38)
Size:
96,233 bases
Orientation:
Plus strand
chr3:196,366,646-196,462,878
(GRCh37/hg19)

Genomic View for PIGX Gene

Genes around PIGX on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGX Gene

Proteins for PIGX Gene

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

    Protein Symbol:
    Q8TBF5-PIGX_HUMAN
    Recommended name:
    Phosphatidylinositol-glycan biosynthesis class X protein
    Protein Accession:
    Q8TBF5
    Secondary Accessions:
    • Q9NWZ2

    Protein attributes for PIGX Gene

    Size:
    258 amino acids
    Molecular mass:
    28788 Da
    Quaternary structure:
    • Interacts with PIGM.
    SequenceCaution:
    • Sequence=AAH22542.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH22542.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305}; Sequence=BAA91233.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91233.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91233.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGX Gene

Post-translational modifications for PIGX Gene

No data available for DME Specific Peptides for PIGX Gene

Domains & Families for PIGX Gene

Gene Families for PIGX Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIGX Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8TBF5

UniProtKB/Swiss-Prot:

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

Function for PIGX Gene

Molecular function for PIGX Gene

UniProtKB/Swiss-Prot Function:
Essential component of glycosylphosphatidylinositol-mannosyltransferase 1 which transfers the first of the 4 mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM (By similarity).

Phenotypes From GWAS Catalog for PIGX Gene

genes like me logo Genes that share phenotypes with PIGX: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGX Gene

Localization for PIGX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGX Gene

Endoplasmic reticulum membrane; Single-pass type I 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 PIGX gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 3
plasma membrane 2
nucleus 2
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PIGX Gene

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

Pathways & Interactions for PIGX Gene

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

UniProtKB/Swiss-Prot Q8TBF5-PIGX_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGX: view

No data available for SIGNOR curated interactions for PIGX Gene

Drugs & Compounds for PIGX Gene

(3) Drugs for PIGX 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 PIGX 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 PIGX: view

Transcripts for PIGX Gene

Unigene Clusters for PIGX Gene

Phosphatidylinositol glycan anchor biosynthesis, class X:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP7: - - - - -
SP8: -
SP9: - -

Relevant External Links for PIGX Gene

GeneLoc Exon Structure for
PIGX
ECgene alternative splicing isoforms for
PIGX

Expression for PIGX Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGX Gene

This gene is overexpressed in Heart (21.9), Pancreas (20.6), Retina (9.2), and Ovary (9.0).

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



Protein tissue co-expression partners for PIGX Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGX Gene:

PIGX

SOURCE GeneReport for Unigene cluster for PIGX Gene:

Hs.223296

Evidence on tissue expression from TISSUES for PIGX Gene

  • Nervous system(4.4)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with PIGX: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGX Gene

Orthologs for PIGX Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIGX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGX 33 34
  • 99.72 (n)
dog
(Canis familiaris)
Mammalia PIGX 33 34
  • 86.3 (n)
cow
(Bos Taurus)
Mammalia PIGX 33 34
  • 85.06 (n)
mouse
(Mus musculus)
Mammalia Pigx 33 16 34
  • 83.62 (n)
rat
(Rattus norvegicus)
Mammalia Pigx 33
  • 80.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGX 34
  • 50 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PIGX 34
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGX 33 34
  • 54.61 (n)
lizard
(Anolis carolinensis)
Reptilia PIGX 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigx 33
  • 52.69 (n)
zebrafish
(Danio rerio)
Actinopterygii pigx 33 34
  • 48.48 (n)
Species where no ortholog for PIGX 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)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for PIGX Gene

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

Paralogs for PIGX Gene

No data available for Paralogs for PIGX Gene

Variants for PIGX Gene

Sequence variations from dbSNP and Humsavar for PIGX Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000058493 -- 196,720,368(+) T/C intron_variant
rs1000201572 -- 196,720,179(+) A/G intron_variant
rs1000208651 -- 196,722,948(+) A/G intron_variant
rs1000373958 -- 196,711,475(+) A/G upstream_transcript_variant
rs1000381929 -- 196,717,124(+) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv2763775 CNV gain+loss 21179565
nsv1001045 CNV gain 25217958
nsv1003135 CNV gain 25217958
nsv1009975 CNV gain 25217958
nsv1014526 CNV gain 25217958
nsv1014692 CNV gain 25217958
nsv1114473 CNV deletion 24896259
nsv1131757 CNV deletion 24896259
nsv524832 CNV loss 19592680
nsv829828 CNV loss 17160897

Variation tolerance for PIGX Gene

Residual Variation Intolerance Score: 81.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGX Gene

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

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

Disorders for PIGX Gene

Additional Disease Information for PIGX

No disorders were found for PIGX Gene.

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

Publications for PIGX Gene

  1. Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I. (PMID: 15635094) Ashida H … Kinoshita T (Molecular biology of the cell 2005) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. 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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. A systems-wide screen identifies substrates of the SCFβTrCP ubiquitin ligase. (PMID: 25515538) Low TY … Heck AJ (Science signaling 2014) 3 58

Products for PIGX Gene

Sources for PIGX Gene

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