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Aliases for PIGK Gene

Aliases for PIGK Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class K 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class K Protein 3 4
  • Phosphatidylinositol Glycan, Class K 2 3
  • GPI Transamidase Subunit 2 3
  • GPI8 Homolog 3 4
  • PIG-K 3 4
  • GPI8 3 4
  • Phosphatidylinositol Glycan Anchor Biosynthesis, Class K 3
  • GPI Transamidase 4
  • EC 3.-.-.- 4
  • HGPI8 4

External Ids for PIGK Gene

Previous GeneCards Identifiers for PIGK Gene

  • GC01M077684
  • GC01M076501
  • GC01M076962
  • GC01M076979
  • GC01M076977
  • GC01M077269
  • GC01M077554
  • GC01M075685

Summaries for PIGK Gene

Entrez Gene Summary for PIGK Gene

  • This gene encodes a member of the cysteine protease family C13 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 a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGK Gene

PIGK (Phosphatidylinositol Glycan Anchor Biosynthesis Class K) is a Protein Coding gene. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include cysteine-type endopeptidase activity and GPI anchor binding. An important paralog of this gene is LGMN.

UniProtKB/Swiss-Prot for PIGK Gene

  • Mediates GPI anchoring in the endoplasmic reticulum, by replacing a proteins C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.

Gene Wiki entry for PIGK Gene

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

Genomics for PIGK Gene

Regulatory Elements for PIGK Gene

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

ENSRs around PIGK on UCSC Golden Path with GeneCards custom track

Genomic Location for PIGK Gene

Chromosome:
1
Start:
77,088,981 bp from pter
End:
77,219,447 bp from pter
Size:
130,467 bases
Orientation:
Minus strand

Genomic View for PIGK Gene

Genes around PIGK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGK Gene

Proteins for PIGK Gene

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

    Protein Symbol:
    Q92643-GPI8_HUMAN
    Recommended name:
    GPI-anchor transamidase
    Protein Accession:
    Q92643
    Secondary Accessions:
    • B2R7K3
    • B4E2M3
    • O14822
    • Q5TG77

    Protein attributes for PIGK Gene

    Size:
    395 amino acids
    Molecular mass:
    45252 Da
    Quaternary structure:
    • Forms a complex with PIGT, PIGS, PIGU and GAA1.

    Alternative splice isoforms for PIGK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGK Gene

Proteomics data for PIGK Gene at MOPED

Post-translational modifications for PIGK Gene

  • The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
  • Ubiquitination at Lys 296
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGK Gene

No data available for DME Specific Peptides for PIGK Gene

Domains & Families for PIGK Gene

Gene Families for PIGK Gene

Protein Domains for PIGK Gene

Graphical View of Domain Structure for InterPro Entry

Q92643

UniProtKB/Swiss-Prot:

GPI8_HUMAN :
  • Belongs to the peptidase C13 family.
Family:
  • Belongs to the peptidase C13 family.
genes like me logo Genes that share domains with PIGK: view

Function for PIGK Gene

Molecular function for PIGK Gene

GENATLAS Biochemistry:
phosphatidylinositol glycan,class K,mutated in K562 cell line,yeast GPI8 homolog,association with GPAA1 for GPI anchor attachment
UniProtKB/Swiss-Prot Function:
Mediates GPI anchoring in the endoplasmic reticulum, by replacing a proteins C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.

Enzyme Numbers (IUBMB) for PIGK Gene

Gene Ontology (GO) - Molecular Function for PIGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with PIGK: view
genes like me logo Genes that share phenotypes with PIGK: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGK

miRNA for PIGK Gene

miRTarBase miRNAs that target PIGK

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

Localization for PIGK Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGK Gene

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGK Gene COMPARTMENTS Subcellular localization image for PIGK gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for PIGK Gene

Pathways & Interactions for PIGK Gene

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

UniProtKB/Swiss-Prot Q92643-GPI8_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0034394 protein localization to cell surface IBA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with PIGK: view

No data available for SIGNOR curated interactions for PIGK Gene

Drugs & Compounds for PIGK Gene

(3) Drugs for PIGK 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 agonist at S1P1-5 0

(463) Additional Compounds for PIGK Gene - From: HMDB and Novoseek

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 PIGK: view

Transcripts for PIGK Gene

Unigene Clusters for PIGK Gene

Phosphatidylinositol glycan anchor biosynthesis, class K:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
SP1: -
SP2:
SP3: - - - -

Relevant External Links for PIGK Gene

GeneLoc Exon Structure for
PIGK
ECgene alternative splicing isoforms for
PIGK

Expression for PIGK Gene

mRNA expression in normal human tissues for PIGK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGK Gene

This gene is overexpressed in Bone (33.9).

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



SOURCE GeneReport for Unigene cluster for PIGK Gene Hs.178305

genes like me logo Genes that share expression patterns with PIGK: view

Protein tissue co-expression partners for PIGK Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGK Gene

Orthologs for PIGK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGK Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PIGK 35
  • 92.24 (n)
  • 93.92 (a)
PIGK 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIGK 35
  • 92.16 (n)
  • 94.32 (a)
PIGK 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pigk 35
  • 83.8 (n)
  • 91.39 (a)
Pigk 16
Pigk 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIGK 35
  • 99.49 (n)
  • 99.75 (a)
PIGK 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigk 35
  • 84.11 (n)
  • 94.01 (a)
oppossum
(Monodelphis domestica)
Mammalia PIGK 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGK 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGK 35
  • 80.44 (n)
  • 87.24 (a)
PIGK 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGK 36
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigk 35
  • 73.92 (n)
  • 83.42 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6746 35
zebrafish
(Danio rerio)
Actinopterygii pigk 35
  • 70.91 (n)
  • 81.3 (a)
pigk 36
  • 79 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EG:133E12.3 37
  • 62 (a)
CG4406 35
  • 60.15 (n)
  • 62.82 (a)
CG4406 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004301 35
  • 61.13 (n)
  • 67.1 (a)
worm
(Caenorhabditis elegans)
Secernentea T05E11.6 37
  • 55 (a)
hpo-4 35
  • 57.81 (n)
  • 54.1 (a)
hpo-4 36
  • 50 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR299W 35
  • 54.21 (n)
  • 55.36 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17051g 35
  • 58.76 (n)
  • 56.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI8 35
  • 61.25 (n)
  • 60.15 (a)
GPI8 36
  • 42 (a)
OneToMany
GPI8 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G08750 35
  • 58.49 (n)
  • 54.4 (a)
rice
(Oryza sativa)
Liliopsida Os.24285 35
Os02g0219400 35
  • 59.89 (n)
  • 58.31 (a)
corn
(Zea mays)
Liliopsida Zm.15417 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3540 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07259 35
  • 56.82 (n)
  • 60.5 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi8 35
  • 59.47 (n)
  • 57.91 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1120 36
  • 47 (a)
OneToOne
Species with no ortholog for PIGK:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 PIGK Gene

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

Paralogs for PIGK Gene

Paralogs for PIGK Gene

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

Variants for PIGK Gene

Sequence variations from dbSNP and Humsavar for PIGK Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_051518 -
rs169216 -- 77,089,796(+) TCTTT(C/T)GTAAT utr-variant-3-prime
rs199715 -- 77,088,857(+) GGGTC(A/G)TATCA downstream-variant-500B
rs699832 -- 77,182,208(+) GATAA(C/T)AGCTA intron-variant
rs736453 -- 77,198,568(+) ttgct(A/G)gaaca intron-variant

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

Variant ID Type Subtype PubMed ID
nsv830292 CNV Loss 17160897
esv2500895 CNV Insertion 19546169
esv272308 CNV Insertion 20981092
esv271361 CNV Insertion 20981092
nsv520629 CNV Loss 19592680
esv271271 CNV Insertion 20981092
esv273566 CNV Insertion 20981092
nsv525188 CNV Loss 19592680

Variation tolerance for PIGK Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGK Gene

HapMap Linkage Disequilibrium report
PIGK

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

Disorders for PIGK Gene

Relevant External Links for PIGK

Genetic Association Database (GAD)
PIGK
Human Genome Epidemiology (HuGE) Navigator
PIGK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGK

No disorders were found for PIGK Gene.

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

Publications for PIGK Gene

  1. The affected gene underlying the class K glycosylphosphatidylinositol (GPI) surface protein defect codes for the GPI transamidase. (PMID: 9356492) Yu J. … Medof M.E. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PMID: 12582175) Ohishi K. … Kinoshita T. (J. Biol. Chem. 2003) 3 23
  3. Proprotein interaction with the GPI transamidase. (PMID: 12616539) Chen R. … Medof M.E. (J. Cell. Biochem. 2003) 3 23
  4. 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. (Mol. Biol. Cell 2003) 3 23
  5. Structural requirements for the recruitment of Gaa1 into a functional glycosylphosphatidylinositol transamidase complex. (PMID: 12052837) Vainauskas S. … Menon A.K. (J. Biol. Chem. 2002) 3 23

Products for PIGK Gene

Sources for PIGK Gene

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