The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [pro... See more...

Aliases for PYURF Gene

Aliases for PYURF Gene

  • PIGY Upstream Reading Frame 2 3 5
  • PIGY Upstream Reading Frame Protein 3 4
  • Protein PreY, Mitochondrial 3 4
  • PREY 3 4
  • PYURF 5
  • PreY 2

External Ids for PYURF Gene

Previous GeneCards Identifiers for PYURF Gene

  • GC04M089444

Summaries for PYURF Gene

Entrez Gene Summary for PYURF Gene

  • The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012]

GeneCards Summary for PYURF Gene

PYURF (PIGY Upstream Reading Frame) is a Protein Coding gene. Diseases associated with PYURF include Hyperphosphatasia With Mental Retardation Syndrome 6 and Hyperphosphatasia-Intellectual Disability Syndrome.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PYURF Gene

Genomics for PYURF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PYURF 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
GH04J088591 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 261.2 -68.9 -68925 3.4 CHD2 TBP MXD4 SP1 MNT SMAD5 ZFP64 MBD2 BHLHE40 ELF1 PYURF lnc-PYURF-2 HERC3 ENSG00000249755 PIGY FAM13A-AS1 RF00017-4362 NAP1L5
GH04J088522 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 497 3 TBP ZBTB10 SP1 MXD4 FEZF1 NR2C1 IKZF1 SMAD5 ETS1 IRF2 HERC3 PYURF PIGY PIGY-DT NAP1L5 MEPE NCOA4P2 lnc-HERC5-3 HERC5
GH04J088531 Promoter/Enhancer 1.2 EPDnew FANTOM5 ENCODE 250.4 -10.0 -10007 4.2 FOSL1 JUND ATF2 BHLHE40 POLR2A CHD1 HLF ATF3 NFE2L2 NANOG PYURF FAM13A-AS1 HERC3 LOC100129137 lnc-HERC5-3 RN7SKP244 NAP1L5
GH04J088608 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 11.2 -87.8 -87832 6 ZSCAN16 BCL11A FEZF1 NR2C1 IKZF1 CEBPB MAX IRF4 TRIM22 EP300 ENSG00000249755 PIGY PYURF NAP1L5 HERC3 FAM13A-AS1 PPM1K RF00017-4362 HSALNG0035767
GH04J088230 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +292.4 292402 1.8 GATA2 NFIC ABCG2 PPM1K-DT PPM1K RNU6-112P RNU6ATAC31P PIGY PYURF ENSG00000249755 RF00026-804 PKD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PYURF on the GeneHancer Hub at the UCSC Golden Path

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

Genomic Locations for PYURF Gene

Latest Assembly
chr4:88,520,998-88,523,776
(GRCh38/hg38)
Size:
2,779 bases
Orientation:
Minus strand

Previous Assembly
chr4:89,442,149-89,444,927
(GRCh37/hg19 by Entrez Gene)
Size:
2,779 bases
Orientation:
Minus strand

chr4:89,442,136-89,444,964
(GRCh37/hg19 by Ensembl)
Size:
2,829 bases
Orientation:
Minus strand

Genomic View for PYURF Gene

Genes around PYURF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PYURF Gene

Proteins for PYURF Gene

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

    Protein Symbol:
    Q96I23-PREY_HUMAN
    Recommended name:
    Protein preY, mitochondrial
    Protein Accession:
    Q96I23
    Secondary Accessions:
    • B2R571

    Protein attributes for PYURF Gene

    Size:
    114 amino acids
    Molecular mass:
    12655 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • PREY and PIGY, 2 apparently unrelated proteins, are respectively the product of an upstream and a downstream ORF contained in a single bicistronic transcript.

neXtProt entry for PYURF Gene

Post-translational modifications for PYURF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PYURF Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PYURF Gene

Domains & Families for PYURF Gene

Gene Families for PYURF Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PYURF Gene

InterPro:
Blocks:
  • Protein of unknown function DUF343
ProtoNet:

Suggested Antigen Peptide Sequences for PYURF Gene

GenScript: Design optimal peptide antigens:
  • Protein preY, mitochondrial (PREY_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96I23

UniProtKB/Swiss-Prot:

PREY_HUMAN :
  • Belongs to the PREY family.
Family:
  • Belongs to the PREY family.
genes like me logo Genes that share domains with PYURF: view

Function for PYURF Gene

Phenotypes From GWAS Catalog for PYURF Gene

Gene Ontology (GO) - Molecular Function for PYURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16162815
genes like me logo Genes that share ontologies with PYURF: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYURF Gene

Localization for PYURF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYURF Gene

Mitochondrion.

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 PYURF gene
Compartment Confidence
mitochondrion 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PYURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA,IDA 16162815
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane IDA 16162815
genes like me logo Genes that share ontologies with PYURF: view

Pathways & Interactions for PYURF Gene

PathCards logo

SuperPathways for PYURF Gene

No Data Available

Gene Ontology (GO) - Biological Process for PYURF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IMP 16162815
GO:0009893 positive regulation of metabolic process IMP 16162815
genes like me logo Genes that share ontologies with PYURF: view

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

Drugs & Compounds for PYURF Gene

No Compound Related Data Available

Transcripts for PYURF Gene

mRNA/cDNA for PYURF Gene

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

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

No ASD Table

Relevant External Links for PYURF Gene

GeneLoc Exon Structure for
PYURF

Expression for PYURF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Heart (Cardiovascular System)

Protein differential expression in normal tissues from HIPED for PYURF Gene

This gene is overexpressed in Heart (45.8).

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



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

SOURCE GeneReport for Unigene cluster for PYURF Gene:

Hs.743393

Evidence on tissue expression from TISSUES for PYURF Gene

  • Liver(4.3)
  • Blood(4)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with PYURF: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PYURF Gene

Orthologs for PYURF Gene

This gene was present in the common ancestor of chordates.

Orthologs for PYURF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PYURF 30
  • 98.54 (n)
PIGY 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PYURF 30 31
  • 86.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PYURF 30
  • 86.84 (n)
PIGY 31
  • 85 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pyurf 30 17 31
  • 81.38 (n)
OneToMany
PYURF 31
  • 70 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Pigy 30
  • 78.87 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
Chicken
(Gallus gallus)
Aves PYURF 31
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PYURF 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pyurf 30
  • 64.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:162634 30
  • 67.14 (n)
PYURF 31
  • 52 (a)
OneToOne
Species where no ortholog for PYURF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PYURF Gene

ENSEMBL:
Gene Tree for PYURF (if available)
TreeFam:
Gene Tree for PYURF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PYURF: view image

Paralogs for PYURF Gene

No data available for Paralogs for PYURF Gene

Variants for PYURF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PYURF Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs143548787 Conflicting Interpretations: not provided 88,521,773(-) G/C
NM_032906.5(PYURF):c.*115C>G
MISSENSE_VARIANT,THREE_PRIME_UTR
rs183004338 Likely Benign: not provided 88,521,647(-) G/A
NM_032906.5(PYURF):c.*241C>T
MISSENSE_VARIANT,THREE_PRIME_UTR
rs869025322 Pathogenic: Hyperphosphatasia with mental retardation syndrome 6 88,521,653(-) A/G
NM_032906.5(PYURF):c.*235T>C
MISSENSE_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PYURF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv980229 CNV duplication 23825009

Variation tolerance for PYURF Gene

Gene Damage Index Score: 0.37; 8.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYURF Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PYURF Gene

MalaCards: The human disease database

(3) MalaCards diseases for PYURF Gene - From: CVR, COP, and GCD

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

Additional Disease Information for PYURF

genes like me logo Genes that share disorders with PYURF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYURF Gene

Publications for PYURF Gene

  1. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PMID: 16162815) Murakami Y … Kinoshita T (Molecular biology of the cell 2005) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3

Products for PYURF Gene

Sources for PYURF Gene