PYURF - PIGY upstream open reading frame Gene

Also Known as PREY; NDUFAFQ

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 100996939

About PYURF

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:88,520,998-88,523,776 (from NCBI)

This gene has 1 transcript (splice variant) and 214 orthologues. Ubiquitous expression in adrenal (RPKM 45.6), fat (RPKM 42.6) and 25 other tissues.

Summary

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 Products (1)

mRNA Protein Name
NM_032906.5 NP_116295.1 protein preY, mitochondrial precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
35614220 GOA
Biological Process GO Annotation Evidence References Source
involved in protein stabilization IDA
IDA: Inferred from direct assay
35614220 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
16162815 GOA
located in mitochondrion IDA
IDA: Inferred from direct assay
35614220 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PYURF Protein Structure

Trm112p

Trm112p: Trm112p-like protein (51 - 90)

  • 0
  • 100
  • 114 a.a.
Protein Preferred Names Protein Names

protein preY, mitochondrial

  • NADH:ubiquinone oxidoreductase complex assembly factor Q

Related Diseases

Diseases Alias
Hyperphosphatasia With Mental Retardation Syndrome 6
  • Hyperphosphatasia With Intellectual Disability Syndrome 6

  • HPMRS6

  • Glycosylphosphatidylinositol Biosynthesis Defect 12

  • Gpibd12

  • Hyperphosphatasia With Mental Retardation Syndrome, Type 6

Mitochondrial Disease
  • Mitochondrial Diseases

  • Mitochondrial Disorder

Gaucher Disease, Type Ii
  • GD2

  • Gd Ii

  • Gaucher Disease, Acute Neuronopathic Type

  • Gaucher Disease Type 2

  • Gaucher Disease Type Ii

  • Gaucher'S Disease Type Ii

  • Infantile Cerebral Gaucher Disease

  • Acute Neuronopathic Gaucher Disease

  • Gd 2

  • Gaucher Disease, Infantile Cerebral

  • Gaucher Disease 2

  • Type 2 Gaucher Disease

  • Gaucher Disease, Type 2

Otosclerosis
  • Otospongiosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris PYURF VGNC VGNC:57410
Rattus norvegicus PYURF RGD RGD:1565524
Mus musculus PYURF MGD MGI:1913709
Others PYURF NCBI