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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. [provided by RefSeq, Aug 2012]
PYURF (PIGY Upstream Reading Frame) is a Protein Coding gene. Diseases associated with PYURF include Hyperphosphatasia With Mental Retardation Syndrome 6 and Otosclerosis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16162815 |
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 |
GO:0005829 | cytosol | IBA | -- |
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 |
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 |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
791982 | Likely Benign: not provided | 88,521,647(-) | G/A | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs143548787 | Conflicting Interpretations: not provided | 88,521,773(-) | G/C | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs869025322 | Pathogenic: Hyperphosphatasia with mental retardation syndrome 6 | 88,521,653(-) | A/G | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
hyperphosphatasia with mental retardation syndrome 6 |
|
|
otosclerosis |
|
|