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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
  • GPI-Anchor Transamidase 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 Post-translational modification- synthesis of GPI-anchored proteins and Metabolism of proteins. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGK Gene

Genomics for PIGK Gene

Regulatory Elements for PIGK Gene

Enhancers for PIGK 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
GH01G077218 1.1 ENCODE 13.8 +0.2 201 2.1 HDGF PKNOX1 FOXA2 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 PIGK GC01M077065
GH01G077439 0.8 Ensembl ENCODE dbSUPER 10.3 -219.2 -219171 0.8 PIGK AK5 GC01P077421 GC01P077502
GH01G077412 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.3 -193.6 -193605 1.5 PKNOX1 JUN MAX CEBPG ZIC2 EED ZSCAN5C FOS L3MBTL2 CEBPB AK5 PIGK GC01P077416 ENSG00000233099
GH01G077271 0.5 ENCODE 10.5 -52.6 -52604 0.7 JUND JUN FOS ENSG00000233099 PIGK AK5 GC01P077226
GH01G077354 0.4 dbSUPER 10 -135.2 -135246 1.5 ZNF121 AK5 RNU7-8P PIGK ENSG00000233099 GC01P077416
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGK on UCSC Golden Path with GeneCards custom track

Promoters for PIGK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000008680 -53 1801 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF207 KLF7

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

Post-translational modifications for PIGK Gene

  • The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity.
  • Ubiquitination at posLast=296296
  • 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

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:0003756 protein disulfide isomerase activity TAS 12582175
GO:0003923 GPI-anchor transamidase activity IEA,TAS --
GO:0005515 protein binding IPI 10793132
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type 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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
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 PIGK gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 2

Gene Ontology (GO) - Cellular Components for PIGK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 11483512
genes like me logo Genes that share ontologies with PIGK: view

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:0006506 GPI anchor biosynthetic process IEA --
GO:0006508 proteolysis IEA --
GO:0016255 attachment of GPI anchor to protein IEA,TAS 11483512
GO:0034394 protein localization to cell surface IBA --
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 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PIGK Gene



Protein tissue co-expression partners for PIGK Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGK Gene:

PIGK

SOURCE GeneReport for Unigene cluster for PIGK Gene:

Hs.178305

Evidence on tissue expression from TISSUES for PIGK Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with PIGK: view

Primer Products

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 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
chimpanzee
(Pan troglodytes)
Mammalia PIGK 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia PIGK 34 35
  • 92.24 (n)
dog
(Canis familiaris)
Mammalia PIGK 34 35
  • 92.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PIGK 35
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigk 34
  • 84.11 (n)
mouse
(Mus musculus)
Mammalia Pigk 34 16 35
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGK 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGK 34 35
  • 80.44 (n)
lizard
(Anolis carolinensis)
Reptilia PIGK 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigk 34
  • 73.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6746 34
zebrafish
(Danio rerio)
Actinopterygii pigk 34 35
  • 70.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta EG:133E12.3 36
  • 62 (a)
CG4406 34 35
  • 60.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004301 34
  • 61.13 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-4 34 35
  • 57.81 (n)
T05E11.6 36
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI8 34 35 37
  • 61.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17051g 34
  • 58.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR299W 34
  • 54.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G08750 34
  • 58.49 (n)
rice
(Oryza sativa)
Liliopsida Os02g0219400 34
  • 59.89 (n)
Os.24285 34
corn
(Zea mays)
Liliopsida Zm.15417 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi8 34
  • 59.47 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07259 34
  • 56.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1120 35
  • 47 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3540 34
Species where no ortholog for PIGK was found in the sources mined by GeneCards:
  • 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
rs1000011155 -- 77,092,427(+) CATGA(C/T)AATAA reference, missense
rs1000028982 -- 77,178,773(+) AGCCA(C/T)CTCTA intron-variant
rs1000077813 -- 77,157,392(+) ATTAA(C/G)AGCAA intron-variant
rs1000103428 -- 77,171,695(+) TAATA(C/T)GGAAA intron-variant
rs1000110397 -- 77,127,277(+) CTGTG(C/T)TATCC intron-variant

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

Variant ID Type Subtype PubMed ID
esv2500895 CNV insertion 19546169
esv3306995 CNV mobile element insertion 20981092
esv3307085 CNV mobile element insertion 20981092
esv3308034 CNV mobile element insertion 20981092
esv3309293 CNV mobile element insertion 20981092
esv3322462 CNV insertion 20981092
esv3322650 CNV insertion 20981092
esv3341686 CNV insertion 20981092
esv3383521 CNV insertion 20981092
esv3396636 CNV insertion 20981092
esv3439343 CNV insertion 20981092
esv3586515 CNV loss 21293372
esv3586517 CNV loss 21293372
nsv1122368 CNV deletion 24896259
nsv1142062 CNV tandem duplication 24896259
nsv520629 CNV loss 19592680
nsv525188 CNV loss 19592680
nsv830292 CNV loss 17160897
nsv946002 CNV duplication 23825009

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 22 64
  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 4 22 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 64

Products for PIGK Gene

Sources for PIGK Gene

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