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Aliases for PGAP3 Gene

Aliases for PGAP3 Gene

  • Post-GPI Attachment To Proteins 3 2 3 2 5
  • Gene Coamplified With ERBB2 Protein 3 4
  • Per1-Like Domain Containing 1 2 3
  • COS16 Homolog 3 4
  • PERLD1 3 4
  • HCOS16 3 4
  • CAB2 3 4
  • PER1-Like Domain-Containing Protein 1 4
  • AGLA546 3
  • PP1498 3

External Ids for PGAP3 Gene

Previous HGNC Symbols for PGAP3 Gene

  • PERLD1

Previous GeneCards Identifiers for PGAP3 Gene

  • GC17M035081
  • GC17M037827
  • GC17M033621

Summaries for PGAP3 Gene

Entrez Gene Summary for PGAP3 Gene

  • This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause the autosomal recessive neurologic disorder hyperphosphatasia with mental retardation syndrome 4 (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]

GeneCards Summary for PGAP3 Gene

PGAP3 (Post-GPI Attachment To Proteins 3) is a Protein Coding gene. Diseases associated with PGAP3 include hyperphosphatasia with mental retardation syndrome 4 and hyperphosphatasia with mental retardation syndrome. GO annotations related to this gene include hydrolase activity, acting on ester bonds.

UniProtKB/Swiss-Prot for PGAP3 Gene

  • Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PGAP3 Gene

Genomics for PGAP3 Gene

Regulatory Elements for PGAP3 Gene

Promoters for PGAP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PGAP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PGAP3 Gene

Chromosome:
17
Start:
39,671,122 bp from pter
End:
39,696,797 bp from pter
Size:
25,676 bases
Orientation:
Minus strand

Genomic View for PGAP3 Gene

Genes around PGAP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGAP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGAP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGAP3 Gene

Proteins for PGAP3 Gene

  • Protein details for PGAP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FM1-PGAP3_HUMAN
    Recommended name:
    Post-GPI attachment to proteins factor 3
    Protein Accession:
    Q96FM1
    Secondary Accessions:
    • B4DGK7
    • Q86Z03
    • Q8NBJ8

    Protein attributes for PGAP3 Gene

    Size:
    320 amino acids
    Molecular mass:
    36475 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • When transfected in S.cerevisiae, it can complement the absence of yeast of PER1 protein, suggesting a conserved role in lipid remodeling steps of GPI-anchor maturation.
    SequenceCaution:
    • Sequence=BAC55580.1; Type=Frameshift; Positions=164, 174, 176, 197; Evidence={ECO:0000305};

    Alternative splice isoforms for PGAP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGAP3 Gene

Proteomics data for PGAP3 Gene at MOPED

Post-translational modifications for PGAP3 Gene

No data available for DME Specific Peptides for PGAP3 Gene

Domains & Families for PGAP3 Gene

Protein Domains for PGAP3 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96FM1

UniProtKB/Swiss-Prot:

PGAP3_HUMAN :
  • Belongs to the PGAP3 family.
Family:
  • Belongs to the PGAP3 family.
genes like me logo Genes that share domains with PGAP3: view

No data available for Gene Families for PGAP3 Gene

Function for PGAP3 Gene

Molecular function for PGAP3 Gene

UniProtKB/Swiss-Prot Function:
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchors proteins. Required for phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI (Probable).
genes like me logo Genes that share phenotypes with PGAP3: view

Human Phenotype Ontology for PGAP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PGAP3 Gene

MGI Knock Outs for PGAP3:

Animal Model Products

miRNA for PGAP3 Gene

miRTarBase miRNAs that target PGAP3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PGAP3 Gene

Localization for PGAP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGAP3 Gene

Golgi apparatus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=Mainly localizes to Golgi apparatus. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PGAP3 Gene COMPARTMENTS Subcellular localization image for PGAP3 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
golgi apparatus 3
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for PGAP3 Gene

Pathways & Interactions for PGAP3 Gene

SuperPathways for PGAP3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PGAP3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PGAP3 Gene

Drugs & Compounds for PGAP3 Gene

No Compound Related Data Available

Transcripts for PGAP3 Gene

Unigene Clusters for PGAP3 Gene

Post-GPI attachment to proteins 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PGAP3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - - - - - - - -
SP7: - - -
SP8: - - -
SP9: - - - -
SP10:

Relevant External Links for PGAP3 Gene

GeneLoc Exon Structure for
PGAP3
ECgene alternative splicing isoforms for
PGAP3

Expression for PGAP3 Gene

mRNA expression in normal human tissues for PGAP3 Gene

Protein differential expression in normal tissues from HIPED for PGAP3 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PGAP3 Gene



SOURCE GeneReport for Unigene cluster for PGAP3 Gene Hs.462971

mRNA Expression by UniProt/SwissProt for PGAP3 Gene

Q96FM1-PGAP3_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in thyroid and placenta.
genes like me logo Genes that share expression patterns with PGAP3: view

Protein tissue co-expression partners for PGAP3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for PGAP3 Gene

Orthologs for PGAP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PGAP3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PGAP3 35
  • 90.39 (n)
  • 92.79 (a)
PGAP3 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PGAP3 35
  • 89.13 (n)
  • 88.16 (a)
PGAP3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pgap3 35
  • 86.75 (n)
  • 87.09 (a)
Pgap3 16
Pgap3 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PGAP3 35
  • 99.48 (n)
  • 99.69 (a)
PGAP3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Perld1 35
  • 86.75 (n)
  • 86.75 (a)
oppossum
(Monodelphis domestica)
Mammalia PGAP3 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PGAP3 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PGAP3 35
  • 76.19 (n)
  • 73.75 (a)
PGAP3 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PGAP3 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pgap3 35
  • 71.19 (n)
  • 67.22 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:171485 35
  • 68.1 (n)
  • 68.21 (a)
PGAP3 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005392 35
  • 51.37 (n)
  • 41.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3271 35
  • 52.04 (n)
  • 40.14 (a)
CG3271 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea R01B10.4 36
  • 31 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR678C 35
  • 45.64 (n)
  • 33.8 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C02101g 35
  • 41.61 (n)
  • 32.73 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PER1 35
  • 40.4 (n)
  • 32.16 (a)
PER1 36
  • 25 (a)
OneToOne
PER1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G16560 35
  • 45.53 (n)
  • 37.25 (a)
rice
(Oryza sativa)
Liliopsida Os05g0220100 35
  • 47.13 (n)
  • 39.65 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08609 35
  • 48.76 (n)
  • 37.1 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC823.07 35
  • 42.09 (n)
  • 37.04 (a)
Species with no ortholog for PGAP3:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PGAP3 Gene

ENSEMBL:
Gene Tree for PGAP3 (if available)
TreeFam:
Gene Tree for PGAP3 (if available)

Paralogs for PGAP3 Gene

No data available for Paralogs for PGAP3 Gene

Variants for PGAP3 Gene

Sequence variations from dbSNP and Humsavar for PGAP3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_071155 Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)
VAR_071156 Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)
VAR_071157 Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4)
rs3152 -- 39,671,417(+) AGGGC(A/G)CAGGC utr-variant-3-prime
rs14050 -- 39,671,819(-) CCAAG(A/G)CGCCA downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PGAP3 Gene

Variant ID Type Subtype PubMed ID
dgv40n68 CNV Loss 17160897
dgv3162n71 CNV Loss 21882294
nsv908207 CNV Loss 21882294
nsv457738 CNV Loss 19166990
nsv516757 CNV Loss 19592680
nsv908213 CNV Loss 21882294
nsv528093 CNV Loss 19592680
nsv908214 CNV Loss 21882294
nsv908215 CNV Loss 21882294

Variation tolerance for PGAP3 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.88; 35.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PGAP3 Gene

HapMap Linkage Disequilibrium report
PGAP3
Human Gene Mutation Database (HGMD)
PGAP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGAP3 Gene

Disorders for PGAP3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PGAP3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PGAP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGAP3_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) [MIM:615716]: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. {ECO:0000269 PubMed:24439110}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PGAP3

Human Genome Epidemiology (HuGE) Navigator
PGAP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PGAP3
genes like me logo Genes that share disorders with PGAP3: view

No data available for Genatlas for PGAP3 Gene

Publications for PGAP3 Gene

  1. PER1 is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins. (PMID: 17021251) Fujita M. … Jigami Y. (Mol. Biol. Cell 2006) 2 3 4 67
  2. Fatty acid remodeling of GPI-anchored proteins is required for their raft association. (PMID: 17314402) Maeda Y. … Kinoshita T. (Mol. Biol. Cell 2007) 2 3
  3. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer. (PMID: 17117180) Benusiglio P.R. … Ponder B.A. (Br. J. Cancer 2006) 3 23
  4. Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B- ERBB2-GRB7 amplicon. (PMID: 15010812) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3
  5. MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cysteine domain. (PMID: 12739007) Katoh M. … Katoh M. (Int. J. Oncol. 2003) 3 23

Products for PGAP3 Gene

Sources for PGAP3 Gene

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