Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name PNPP1
Plot displaying the genomic locations of a retrocopy (in chr2) and its respective parental gene (in chr14). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr2:76257566-76258898  UCSC
Coordinates (T2T) chr2:76266942-76268274  UCSC
Coordinates (hg19) chr2:76484692-76486024  UCSC
Strand -
Parental Sequence NM_000270.4
Parental seq. overlap 1071 bp
Parental seq. overlap (%) 71.2%
Genomic Region Intergenic
Retrocopy Summary PNPP1, located on chr2:76257566-76258898, is a retrocopy of the parental gene PNP. Retrocopies of protein-coding genes, also known as processed pseudogenes, are intriguing genomic elements with implications in genome evolution and diseases. While some retrocopies are non-functional, there are examples of retrocopies (retrogenes) acquiring regulatory roles or exhibiting neofunctionalization unrelated to their parental genes.

Parental Gene

Gene Name PNP
Full Name purine nucleoside phosphorylase
Also known as NP|PRO1837|PUNP
Coordinate chr14:20469406-20477089
Strand +
Gene summary This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes PNPP1
Bonobo Pan paniscus PNPP1
Gorilla Gorilla gorilla PNPP1
Orangutan Pongo abelii PNPP1
Gibbon Nomascus leucogenys PNPP1
Green monkey Chlorocebus sabaeus PNPP1
Crab-eating macaque Macaca fascicularis PNPP1
Rhesus Macaca mulatta PNPP1
Baboon Papio anubis PNPP1
Golden snub-nosed monkey Rhinopithecus roxellana PNPP2
Marmoset Callithrix jacchus PNPP2
Mouse lemur Microcebus murinus Without Homology
Mouse Mus musculus Without Homology
Rat Rattus norvegicus Without Homology
Chinese hamster Cricetulus griseus Without Homology
Rabbit Oryctolagus cuniculus Without Homology
Pig Sus scrofa Without Homology
Cow Bos taurus Without Homology
Sheep Ovis aries Without Homology
Dolphin Tursiops truncatus Without Homology
Horse Equus caballus Without Homology
Dog Canis familiaris Without Homology
Panda Ailuropoda melanoleuca Without Homology
Cat Felis catus Without Homology
Pale spear-nosed bat Phyllostomus discolor Without Homology
Velvety free-tailed bat Molossus molossus Without Homology
Greater mouse-eared bat Myotis myotis Without Homology
Kuhl's pipistrelle Pipistrellus kuhlii Without Homology
Greater horseshoe bat Rhinolophus ferrumequinum Without Homology
Egyptian rousette Rousettus aegyptiacus Without Homology
Sloth Choloepus didactylus Without Homology
Tasmanian Devil Sarcophilus harrisii Without Homology
Opossum Monodelphis domestica Without Homology
Platypus Ornithorhynchus anatinus Without Homology
Chicken Gallus gallus Without Homology
Turkey Meleagris gallopavo Without Homology
Zebra Finch Taeniopygia guttata Without Homology
Budgerigar Melopsittacus undulatus Without Homology
Painted Turtle Chrysemys picta Without Homology
Lizard Anolis Carolinensis Without Homology
Frog Xenopus tropicalis Without Homology
Zebrafish Danio rerio Without Homology
Drosophila Drosophila melanogaster Without Homology

Expression

Related Sequence

>PNPP1
CATGGAGAATGGATACACATATGAAGATTATCAGAGCACTGCAGAATGGCTTCTGTTTCACACCAAGCACTGAACACAAGTGACAGTGATCTGTGGGTCTGAATTAGGAGATCTGACTGACAAATTAATTCAGGCCCAAATCTTTAACAACAGTGAGATGCTCAACTTTTTCCAAAGTACAGTGCCAGGTCATGCTGTTTGACTGGTGTTTGGGTTCCTGAATGGCACAGTGTGTGTGATGATGCAAGGAAGGTTCTACTTGTATGATGGGTACCTGCTCTGGAACATGATATTTTTGCATGAGGTTTTCCAGCTTCTGGGTGGAAACATCTTGGTGGCCACCGATGCAGCTGGAGGGCTCAACCCCAAGTCTGAGGTTGGAAGGATCATGCTTCTCTGTGATCACATCAAGCTACTTGGTTTCTGTGATCAGAACTCTCCCAAAGGGCCCAATGATGAAAGGTTTGGAGTTCATTTTCCTGCCACGTCTGATGCCTACAACTGGACAATGAAGCAAAAGGCGCTCAATTCTTAGAACCAAATGGGGAAGCAGCAAGAGGTACAGAAAGACACCTATGTGATGGCAGTAAACTGCAACTTTGAGACTGGCAGGGACTCATCTGATGCAGAAGCTGGGGATGGATGCTGTTTGGCGTGAGCACAGCATCAGAGTTAGAGTTGCATGGCACTGTGGACTTGGAGTCTTTGCTTCTCACTCATCACTAACAAAGTCATCATGGATTATGAAAGCCTGAAGAAGGCCAATCATGAGTAAGTATGAGAGGCTGTGAAACAAGCTGCCCAGAAATTGGAACAATTTGTCTCCATTCTTAAGGCTAGCATTCCACTACCTGACAATGCCAATTGATCAGCCCTGGAGTGGTGTGATGTCTCCCACATTGGATCCAATTAGCTGCTAATTACTTTTGCCCCTTGCTGGAATCACATGCCTCTGCTCTTAAGTGGTAGCAGAACAAAGAGGAATATTCCTCTTCTTCACCTTCCCCACTTTCTCCTACCAGACCCTCCTGCTTTTGCTTAGTTGTCAATTTCTCTTTTGCTTAGTTGTCTTATCAAACCAGTTTCTATCCCTGTTTTTTTTCAAGAGCAGAAGCCCATGGCTACCACACATCCATGGATATGCCCAGGATTTGACTTGGGCTTTCAAACTTTGCAGAGTAGCTGATACTAGCTTTTTGAGATAACACTCTCACATTCCTGGGGGCTCAGTTCTGCCTCACCTACCGCACTAGAGACCAAACAAAGACTAACTCAATACTCTCTGGACTTAATTAAACCATAATGTTTTGAGAATAAa
>NM_000270.4
AACTGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTCAGCATagcggagcggatccgatcggatcggagcggatcggagcacaccggagcAGGCTCATCGAGAAGGCGTCTGCGAGACCATGGAGAACGGATACACCTATGAAGATTATAAGAACACTGCAGAATGGCTTCTGTCTCACACTAAGCACCGACCTCAAGTTGCAATAATCTGTGGTTCTGGATTAGGAGGTCTGACTGATAAATTAACTCAGGCCCAGATCTTTGACTACGGTGAAATCCCCAACTTTCCCCGAAGTACAGTGCCAGGTCATGCTGGCCGACTGGTGTTTGGGTTCCTGAATGGCAGGGCCTGTGTGATGATGCAGGGCAGGTTCCACATGTATGAAGGGTACCCACTCTGGAAGGTGACATTCCCAGTGAGGGTTTTCCACCTTCTGGGTGTGGACACCCTGGTAGTCACCAATGCAGCAGGAGGGCTGAACCCCAAGTTTGAGGTTGGAGATATCATGCTGATCCGTGACCATATCAACCTACCTGGTTTCAGTGGTCAGAACCCTCTCAGAGGGCCCAATGATGAAAGGTTTGGAGATCGTTTCCCTGCCATGTCTGATGCCTACGACCGGACTATGAGGCAGAGGGCTCTCAGTACCTGGAAACAAATGGGGGAGCAACGTGAGCTACAGGAAGGCACCTATGTGATGGTGGCAGGCCCCAGCTTTGAGACTGTGGCAGAATGTCGTGTGCTGCAGAAGCTGGGAGCAGACGCTGTTGGCATGAGTACAGTACCAGAAGTTATCGTTGCACGGCACTGTGGACTTCGAGTCTTTGGCTTCTCACTCATCACTAACAAGGTCATCATGGATTATGAAAGCCTGGAGAAGGCCAACCATGAAGAAGTCTTAGCAGCTGGCAAACAAGCTGCACAGAAATTGGAACAGTTTGTCTCCATTCTTATGGCCAGCATTCCACTCCCTGACAAAGCCAGTTGACCTGCCTTGGAGTCGTCTGGCATCTCCCACACAAGACCCAAGTAGCTGCTACCTTCTTTGGCCCCTTGCTGGAGTCATGTGCCTCTGTCCTTAGGTTGTAGCAGAAAGGAAAAGATTCCTGTCCTTCACCTTTCCCACTTTCTTCTACCAGACCCTTCTGGTGCCAGATCCTCTTCTCAAAGCTGGGATTACAGGTGTGAGCATAGTGAGACCTTGGCGCTACAAAATAAAGCTGTTCTCATTCCTGTTCTTTCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTGTGGAGATGCCCAGGATTTGACTCGGGCCTTAGAACTTTGCATAGCAGCTGCTACTAGCTCTTTGAGATAATACATTCCGAGGGGCTCAGTTCTGCCTTATCTAAATCACCAGAGACCAAACAAGGACTAATCCAATACCTCTTGGATTTTATTTAATGTCATAATGTTGTCAGAATAAAGAGAAAGATGAAATAA

Publications

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