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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
External Ids for PYURF Gene
- HGNC: 44317
- NCBI Entrez Gene: 100996939
- Ensembl: ENSG00000145337
- UniProtKB/Swiss-Prot: Q96I23
Previous GeneCards Identifiers for PYURF Gene
- GC04M089444
Summaries 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.
Additional gene information for PYURF Gene
- HGNC (44317)
- NCBI Entrez Gene (100996939)
- Ensembl (ENSG00000145337)
- UniProtKB/Swiss-Prot (Q96I23)
- Open Targets Platform(ENSG00000145337)
- Monarch Initiative
- Search for PYURF at DataMed
- Search for PYURF at HumanCyc
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
- 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:
-
- 4q22.1 by HGNC
- 4q22.1 by Entrez Gene
- 4q22.1 by Ensembl
PYURF Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for PYURF Gene
Post-translational modifications for PYURF Gene
Other Protein References for PYURF Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for PYURF
- Novus Biologicals Antibodies for PYURF
- Invitrogen Antibodies for PYURF (AFLGC-PYURF)
- antibodies-online: Show 5 available PYURF Antibodies ranked by validation data
Protein products for research
-
OriGene Purified Proteins for PYURF
- Search Origene for MassSpec and Protein Over-expression Lysates for PYURF
- Origene Custom Protein Services for PYURF
- Novus Biologicals proteins for PYURF
Assay products for research
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- Family:
-
- Belongs to the PREY family.
Function for PYURF Gene
Phenotypes From GWAS Catalog for PYURF Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16162815 |
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
miRNA for PYURF Gene
- miRTarBase miRNAs that target PYURF
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYURF
- Browse OriGene Inhibitory RNA Products For PYURF
Cell Lines for research
-
Horizon Cell Lines for PYURF
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| nucleus | 3 |
- Nucleoplasm (2)
| 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 |
Pathways & Interactions for PYURF Gene
Interacting Proteins for PYURF Gene
GPS-Prot Interaction Network for PYURF
| 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 |
No data available for Pathways by source and SIGNOR curated interactions for PYURF Gene
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 :
-
- ENST00000273968 1311 nts (view in UCSC)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYURF
- Browse OriGene Inhibitory RNA Products For PYURF
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)
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.743393Evidence on tissue expression from TISSUES for PYURF Gene
- Liver(4.3)
- Blood(4)
- Nervous system(2)
Primer products for research
-
OriGene qPCR primer pairs for PYURF
-
OriGene qPCR primer pairs and template standards for PYURF
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PYURF 30 |
|
||
| PIGY 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | PYURF 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PYURF 30 |
|
||
| PIGY 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Pyurf 30 17 31 |
|
OneToMany | |
| PYURF 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Pigy 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | PYURF 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PYURF 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pyurf 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:162634 30 |
|
||
| PYURF 31 |
|
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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hyperphosphatasia with mental retardation syndrome 6 |
|
|
| hyperphosphatasia-intellectual disability syndrome |
|
|
| otosclerosis |
|
|
Search PYURF in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PYURF
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PYURF Gene
Publications for PYURF Gene
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 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
- 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
- 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
ExternalLinks
Products for PYURF Gene
- Custom Antibody ServicesOriGene Antibodies for PYURF
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for PYURF
- Search Origene for MassSpec and Protein Over-expression Lysates for PYURF
- Origene Custom Protein Services for PYURF
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PYURF
- Browse OriGene Inhibitory RNA Products For PYURF
- OriGene qPCR primer pairs for PYURF
- OriGene qPCR primer pairs and template standards for PYURF
- OriGene CRISPR knockouts for PYURF
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PYURF
- Sino Biological Human cDNA Clone for PYURF
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for PYURF
- Novus Biologicals proteins for PYURF
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for PYURF (AFLGC-PYURF)
- VectorBuilder Custom and pre-made DNA vectors for PYURF (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PYURF (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PYURF (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PYURF CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PYURF
- antibodies-online: Show 5 available PYURF Antibodies ranked by validation data
- antibodies-online: Search results for available PYURF related products ranked by validation data
- antibodies-online: Search results for available PYURF related products ranked by validation data
- Horizon Cell Lines for PYURF
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for PYURF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles, and/or promoter clone products for PYURF
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PYURF
- Search GeneCopoeia for shRNA, lentivirus, and/or AAV clone products for PYURF
Sources for PYURF Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB