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Aliases for PIGM Gene

Aliases for PIGM Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class M 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class M Protein 3 4
  • Dol-P-Man Dependent GPI Mannosyltransferase 2 3
  • DPM:GlcN-(Acyl-)PI Mannosyltransferase 2 3
  • GPI Mannosyltransferase 1 2 3
  • GPI Mannosyltransferase I 3 4
  • GPI-MT-I 3 4
  • Phosphatidylinositol Glycan, Class M 2
  • PIG-M Mannosyltransferase 3
  • EC 2.4.1.- 4
  • EC 2.4.1 58
  • PIG-M 4

External Ids for PIGM Gene

Previous GeneCards Identifiers for PIGM Gene

  • GC01M157791
  • GC01M155731
  • GC01M156777
  • GC01M157216
  • GC01M156812
  • GC01M158261
  • GC01M159997
  • GC01M131354

Summaries for PIGM Gene

Entrez Gene Summary for PIGM Gene

  • This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGM Gene

PIGM (Phosphatidylinositol Glycan Anchor Biosynthesis Class M) is a Protein Coding gene. Diseases associated with PIGM include Glycosylphosphatidylinositol Deficiency and Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism. GO annotations related to this gene include transferase activity, transferring hexosyl groups and mannosyltransferase activity.

UniProtKB/Swiss-Prot for PIGM Gene

  • Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.

Additional gene information for PIGM Gene

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

Genomics for PIGM Gene

Regulatory Elements for PIGM Gene

Enhancers for PIGM 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
GH01H159881 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +149.9 149858 1 PKNOX1 ATF7 FOS DEK ZNF491 ZNF518A ZNF592 MAFF SMARCA4 GLIS1 RPSAP18 ENSG00000272668 SNHG28 LOC100287049 COPA SLAMF8 PIGM DCAF8 CADM3 CADM3-AS1
GH01H159888 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.6 +141.5 141510 3 HDGF ATF1 SIN3A ZNF2 GLIS2 ZNF143 ZNF207 FOS ATF7 RUNX3 ENSG00000272668 SLAMF8 SNHG28 FCRL6 VSIG8 ENSG00000212161 IGSF9 DUSP23 PIGM SLAMF9
GH01H160095 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -67.6 -67555 8 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ATP1A4 IGSF8 CASQ1 KCNJ10 PEA15 DCAF8 PEX19 PIGM ENSG00000225279 ATP1A2
GH01H160085 1.4 FANTOM5 ENCODE dbSUPER 10.4 -54.5 -54455 1 ELF3 HDGF CTCF PKNOX1 ATF1 RB1 ARID4B RAD21 CC2D1A GATA3 ATP1A2 KCNJ9 PIGM IGSF8 ATP1A4 KCNJ10 PEA15
GH01H160083 1.3 Ensembl ENCODE dbSUPER 10.4 -52.4 -52374 1 GTF2F1 CTCF RB1 SIN3A MAX RAD21 HIC1 E2F1 POLR2A SCRT2 PIGM ATP1A2 ATP1A4 KCNJ9 IGSF8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGM on UCSC Golden Path with GeneCards custom track

Promoters for PIGM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014489 193 2001 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF207 SP3 SP5 ZHX2

Genomic Location for PIGM Gene

Chromosome:
1
Start:
160,027,672 bp from pter
End:
160,031,993 bp from pter
Size:
4,322 bases
Orientation:
Minus strand

Genomic View for PIGM Gene

Genes around PIGM on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGM Gene

Proteins for PIGM Gene

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

    Protein Symbol:
    Q9H3S5-PIGM_HUMAN
    Recommended name:
    GPI mannosyltransferase 1
    Protein Accession:
    Q9H3S5

    Protein attributes for PIGM Gene

    Size:
    423 amino acids
    Molecular mass:
    49460 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGM Gene

Selected DME Specific Peptides for PIGM Gene

Q9H3S5:
  • FCCFLHT
  • ACAAVFYGFAVHMK
  • PAGVFGVAFLARVALVFYGVFQDRTL
  • VHMKIYP
  • VSSRGNA
  • TKHWGEW
  • ELFGKFLFIS
  • TYRYTPLL
  • VCTSQYF
  • AVLLFVAVAGLTF
  • FVTFNKV
  • WLLNPLPMAVS
  • YHLTRRDIRHNFSPYFYMLYLTAE

Post-translational modifications for PIGM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIGM Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PIGM Gene

Protein Domains for PIGM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGM Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H3S5

UniProtKB/Swiss-Prot:

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

Function for PIGM Gene

Molecular function for PIGM Gene

UniProtKB/Swiss-Prot Function:
Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.

Enzyme Numbers (IUBMB) for PIGM Gene

Gene Ontology (GO) - Molecular Function for PIGM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
genes like me logo Genes that share ontologies with PIGM: view
genes like me logo Genes that share phenotypes with PIGM: view

Human Phenotype Ontology for PIGM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGM Gene

MGI Knock Outs for PIGM:
  • Pigm tm1.1(KOMP)Vlcg

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGM
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PIGM Gene

Localization for PIGM Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGM 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 PIGM gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PIGM 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 PIGM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGM Gene

Pathways & Interactions for PIGM Gene

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

UniProtKB/Swiss-Prot Q9H3S5-PIGM_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGM 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 PIGM: view

No data available for SIGNOR curated interactions for PIGM Gene

Drugs & Compounds for PIGM Gene

(3) Drugs for PIGM 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 PIGM 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 PIGM: view

Transcripts for PIGM Gene

mRNA/cDNA for PIGM Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(125) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PIGM Gene

Phosphatidylinositol glycan anchor biosynthesis, class M:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PIGM
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for PIGM Gene

GeneLoc Exon Structure for
PIGM
ECgene alternative splicing isoforms for
PIGM

Expression for PIGM Gene

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

Protein differential expression in normal tissues from HIPED for PIGM Gene

This gene is overexpressed in Retina (22.3), Fetal Brain (11.4), Ovary (9.3), Pancreas (9.1), and CD4 Tcells (7.4).

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



NURSA nuclear receptor signaling pathways regulating expression of PIGM Gene:

PIGM

SOURCE GeneReport for Unigene cluster for PIGM Gene:

Hs.552810

Evidence on tissue expression from TISSUES for PIGM Gene

  • Nervous system(4.4)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • lymphatic
  • nervous
Organs:
Head and neck:
  • brain
  • head
Abdomen:
  • liver
  • spleen
General:
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with PIGM: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PIGM Gene

Orthologs for PIGM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGM 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia PIGM 33 34
  • 87.23 (n)
rat
(Rattus norvegicus)
Mammalia Pigm 33
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Pigm 33 16 34
  • 85.66 (n)
dog
(Canis familiaris)
Mammalia PIGM 33 34
  • 72.99 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGM 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGM 33 34
  • 65.58 (n)
lizard
(Anolis carolinensis)
Reptilia PIGM 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigm 33
  • 63.64 (n)
Str.17051 33
zebrafish
(Danio rerio)
Actinopterygii pigm 33 34
  • 57.94 (n)
zgc64177 33
fruit fly
(Drosophila melanogaster)
Insecta CG9865 33 34
  • 48.63 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010434 33
  • 48.38 (n)
worm
(Caenorhabditis elegans)
Secernentea B0491.1 33 34
  • 51.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR034W 33
  • 52.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI14 33 34 36
  • 50.13 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09647g 33
  • 48.38 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PNT1 33
  • 47.46 (n)
rice
(Oryza sativa)
Liliopsida Os03g0670200 33
  • 50.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06057 33
  • 49.74 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi14 33
  • 46.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToOne
Species where no ortholog for PIGM was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • corn (Zea mays)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 PIGM Gene

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

Paralogs for PIGM Gene

No data available for Paralogs for PIGM Gene

Variants for PIGM Gene

Sequence variations from dbSNP and Humsavar for PIGM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs587776528 Pathogenic 160,032,009(+) GCGGA(C/G)GCGGG upstream-variant-2KB
rs138151842 Uncertain significance 160,030,921(+) AAGTA(A/C/T)GGAGA reference, synonymous-codon
rs759956537 Uncertain significance 160,031,603(+) TATAC(C/T)TCACG reference, missense
rs1000008313 -- 160,032,200(+) GCGCG(C/G)TACAT upstream-variant-2KB
rs1000446356 -- 160,032,649(+) CCCAC(-/TCACT)TCACT upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv2669935 CNV deletion 23128226
esv2762195 CNV loss 21179565
esv3587707 CNV loss 21293372

Variation tolerance for PIGM Gene

Residual Variation Intolerance Score: 16.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGM Gene

Human Gene Mutation Database (HGMD)
PIGM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGM

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

Disorders for PIGM Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIGM Gene - From: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
glycosylphosphatidylinositol deficiency
  • hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
  • congenital disorder of glycosylation due to pigm deficiency
- elite association - COSMIC cancer census association via MalaCards
Search PIGM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGM_HUMAN
  • Glycosylphosphatidylinositol deficiency (GPID) [MIM:610293]: Autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression. {ECO:0000269 PubMed:16767100}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGM

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGM
genes like me logo Genes that share disorders with PIGM: view

No data available for Genatlas for PIGM Gene

Publications for PIGM Gene

  1. PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER. (PMID: 11226175) Maeda Y … Kinoshita T (The EMBO journal 2001) 2 3 4 60
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  3. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. (PMID: 16767100) Almeida AM … Karadimitris A (Nature medicine 2006) 3 4 60
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 60
  5. 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 60

Products for PIGM Gene

Sources for PIGM Gene

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