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 ... See more...

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
  • GPI-Anchor Transamidase 3 4
  • GPI8 Homolog 3 4
  • PIG-K 3 4
  • GPI8 3 4
  • 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. Diseases associated with PIGK include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 and Sleeping Sickness. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (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 Summary for PIGK Gene

  • Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's 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

Additional gene information for PIGK Gene

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

Genomics for PIGK Gene

GeneHancer (GH) Regulatory Elements for PIGK Gene

Promoters and enhancers for PIGK 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
GH01J077218 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 513.7 -0.1 -144 2.8 FOXK2 SIN3A POLR2G GTF2E2 ZNF639 POLR2A ZNF510 SAP30 RFX1 KLF7 PIGK LOC105378808 lnc-AK5-1 lnc-USP33-7 piR-60146-006
GH01J077271 Enhancer 0.6 Ensembl ENCODE 15.8 -52.7 -52654 2.2 JUND FOS JUN PIGK ENSG00000233099 ENSG00000213561 AK5 piR-38351-011
GH01J077170 Enhancer 0.3 Ensembl 18 +48.9 48946 0.2 ZNF316 PIGK RF00017-251 piR-55110-003 lnc-USP33-7
GH01J077467 Enhancer 0.5 Ensembl ENCODE 9.6 -248.9 -248899 1.3 ATF2 CEBPB ENSG00000233099 AK5 PIGK HSALNG0004573 piR-33422-009
GH01J077469 Enhancer 0.4 Ensembl 10.6 -250.4 -250354 0.8 CEBPB SPI1 MAX EP300 MYC ENSG00000233099 AK5 PIGK RNU7-8P HSALNG0004573 piR-33422-009
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGK on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the PIGK gene promoter:
  • FOXI1
  • HFH-3
  • Pax-4a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RORalpha1
  • Sp1
  • Spz1
  • YY1

Genomic Locations for PIGK Gene

Genomic Locations for PIGK Gene
chr1:77,088,981-77,219,447
(GRCh38/hg38)
Size:
130,467 bases
Orientation:
Minus strand
chr1:77,554,666-77,685,132
(GRCh37/hg19)
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 Lys296
  • 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

Blocks:
  • Hemoglobinase (C13) cysteine protease signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGK Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58228, highly similar to GPI-anchor transamidase (EC 3.-.-.-) (B4E2M3_HUMAN)
  • Phosphatidylinositol-glycan biosynthesis class K protein (GPI8_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's 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.
GENATLAS Biochemistry:
phosphatidylinositol glycan,class K,mutated in K562 cell line,yeast GPI8 homolog,association with GPAA1 for GPI anchor attachment

Enzyme Numbers (IUBMB) for PIGK Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
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

CRISPR Products

miRNA for PIGK Gene

miRTarBase miRNAs that target PIGK

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGK

Clone 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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1

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,IEA --
GO:0016020 membrane IEA,HDA 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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:0006506 GPI anchor biosynthetic process IEA --
GO:0006508 proteolysis IEA --
GO:0016255 attachment of GPI anchor to protein TAS,IEA 11483512
GO:0034394 protein localization to cell surface IBA 21873635
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

(4) Drugs for PIGK 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

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

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 PIGK: view

Transcripts for PIGK Gene

mRNA/cDNA for PIGK Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGK

Clone 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

Expression for PIGK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PIGK Gene



Protein tissue co-expression partners for PIGK Gene

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

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 31 30
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGK 31 30
  • 92.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGK 31 30
  • 92.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGK 31
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigk 30
  • 84.11 (n)
mouse
(Mus musculus)
Mammalia Pigk 17 31 30
  • 83.8 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGK 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGK 31 30
  • 80.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGK 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigk 30
  • 73.92 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6746 30
zebrafish
(Danio rerio)
Actinopterygii pigk 31 30
  • 70.91 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta EG:133E12.3 32
  • 62 (a)
CG4406 31 30
  • 60.15 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004301 30
  • 61.13 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-4 31 30
  • 57.81 (n)
OneToOne
T05E11.6 32
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI8 33 31 30
  • 61.25 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E17051g 30
  • 58.76 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR299W 30
  • 54.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G08750 30
  • 58.49 (n)
rice
(Oryza sativa)
Liliopsida Os02g0219400 30
  • 59.89 (n)
Os.24285 30
corn
(Zea mays)
Liliopsida Zm.15417 30
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi8 30
  • 59.47 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07259 30
  • 56.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1120 31
  • 47 (a)
OneToOne
Cin.3540 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3540 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for PIGK: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGK Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs12723684 - p.Thr16Ala

Additional dbSNP identifiers (rs#s) for PIGK Gene

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)

Additional Variant Information for PIGK Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGK Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIGK Gene - From: DISEASES

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 3
  • mcahs3
sleeping sickness
  • african sleeping sickness
- elite association - COSMIC cancer census association via MalaCards
Search PIGK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIGK

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 PIGK: view

No data available for 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 ME (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 54
  2. Two subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge. (PMID: 12582175) Ohishi K … Kinoshita T (The Journal of biological chemistry 2003) 3 4 23 54
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for PIGK Gene

Sources for PIGK Gene