Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name POMKP1
Plot displaying the genomic locations of a retrocopy (in chr14) and its respective parental gene (in chr8). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr14:51787298-51787513  UCSC
Coordinates (T2T) chr14:45994270-45994485  UCSC
Coordinates (hg19) chr14:52254016-52254231  UCSC
Strand +
Parental Sequence NM_032237.5
Parental seq. overlap 142 bp
Parental seq. overlap (%) 7.6%
Genomic Region Intergenic
Retrocopy Summary POMKP1, located on chr14:51787298-51787513, is a retrocopy of the parental gene POMK. 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 POMK
Full Name protein O-mannose kinase
Also known as MDDGA12|MDDGC12|SGK196
Coordinate chr8:43093515-43123434
Strand +
Gene summary This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes POMKP1
Bonobo Pan paniscus POMKP1
Gorilla Gorilla gorilla POMKP1
Orangutan Pongo abelii POMKP1
Gibbon Nomascus leucogenys POMKP1
Green monkey Chlorocebus sabaeus CFL2P2
Baboon Papio anubis POMKP1
Crab-eating macaque Macaca fascicularis Without Homology
Rhesus Macaca mulatta Without Homology
Golden snub-nosed monkey Rhinopithecus roxellana Without Homology
Marmoset Callithrix jacchus Without Homology
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

>POMKP1
gATGCTTCCAAACCAGTCCCTGGGGGCCAACCAGAGCACAGACTGACCAGGTACCTGGGTGGAGACCTTAGCTGGGAGAAGGGGCACCTGGAAGGAAATTACAGAGGAAATCAACATGGAACAGAAGCCCCAGGACAGCAGGAGAGGCCTCACCTGCCGAGAGGTGCC
>NM_032237.5
AGTGCGTGCTGGCCCGGGGTGGCAGGAGCCGCAGAGGCTTGGGCTGCAGAAAAAGGATCCTGTTTGCTGTGTAATCCTGAGAATGGACTGCAAGAGAGGAAAAACTGGGCGTCTGCTTGGGAATCTATTGTGGAAACCCAGGGTGTTTCCCGACCAGTCCCTGGGCGCCAACTAGAGTATGGACTGACCAGGTACCTGGATGGAGACCTGAGCTGGAGAAGGAGATGCGCTTGGGAGGAAATTGCAGAGGCCGTCAACATGGAAAAGCAGCCCCAGAACAGCAGGAGAGGCCTCGCCCCCCGAGAGGTGCCGCCAGCTGTTGGGCTGCTGCTGATCATGGCCCTGATGAATACTCTGCTCTACCTCTGCCTCGACCACTTCTTCATCGCTCCTCGACAATCCACTGTGGACCCCACACACTGTCCCTATGGTCACTTCAGGATAGGACAGATGAAAAACTGCTCACCTTGGCTGTCCTGCGAGGAGCTGAGAACAGAAGTGAGACAGCTGAAGCGTGTTGGGGAAGGAGCTGTAAAGAGAGTCTTTCTGTCTGAGTGGAAGGAGCACAAAGTTGCACTCTCACAGCTCACCAGCCTGGAGATGAAAGATGATTTCCTCCATGGACTGCAGATGCTGAAATCTCTCCAAGGCACACATGTTGTCACGCTGCTTGGCTATTGTGAGGATGACAACACTATGCTTACTGAATATCACCCTCTAGGTTCCTTGAGTAACCTGGAAGAAACACTAAACCTTTCAAAGTACCAAAATGTGAACACGTGGCAGCACAGGCTGGAGCTGGCCATGGACTATGTCAGCATCATTAATTACCTGCACCACAGCCCTGTGGGCACACGGGTCATGTGCGACTCCAACGACCTGCCGAAGACACTGTCCCAGTATCTGCTAACAAGCAACTTCAGCATTTTGGCAAATGACTTGGACGCCTTACCCCTGGTGAACCACAGCTCCGGGATGCTGGTGAAGTGCGGCCACAGGGAGCTGCATGGGGATTTCGTGGCTCCAGAGCAACTGTGGCCCTATGGAGAGGACGTGCCTTTCCACGATGATCTCATGCCCTCATATGATGAGAAGATTGACATTTGGAAGATCCCAGACATCTCCAGTTTCCTTCTGGGGCACATTGAAGGGAGTGATATGGTCCGATTCCATTTGTTTGATATTCACAAAGCATGCAAGAGCCAGACTCCCTCAGAAAGACCCACTGCCCAGGACGTTCTGGAGACCTACCAGAAGGTCTTGGATACACTTAGAGATGCCATGATGTCTCAGGCAAGAGAGATGCTGTGAAAACCAGTCCAGCCAATGAAGGTGGGATTGAAGGGCTGAATGGAAGTTACAGCATTCTACTCTGATGGTGGAGTTTTTTGCCTGAGTTTCGTGTTTTATTGTTTTTTTTATGGCTTAGCCATGTGGTTCGTTGTCCACATCCACATGTACGTTTGTATGTAGTCCAcattggttgttagatttttttttttttctttgagatgcggtcttgctctgttgctgaggctggagtgcagtgatgtgatcttggctcactgcagcctctgcctcccaggttcaagcaattctcccacctcagcctcctgagtagctgggattacaggcacaccaccacgcctggctaatttttgtatttttagtggaggtggggtttcaccatgttggccaggctggtcccgaactcctgacttcctcggcctcccaaagtgttgggattacaggcatgggccactatgcctggccagttgttagatttccatggatttgtagtttccaaagtttctcgttattgatttctacttttcttccattgtggtctgagaaggtacttgatatga

Publications

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