Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name GM2AP1
Plot displaying the genomic locations of a retrocopy (in chr3) and its respective parental gene (in chr5). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr3:145684536-145685953  UCSC
Coordinates (T2T) chr3:148439511-148440929  UCSC
Coordinates (hg19) chr3:145402323-145403740  UCSC
Strand +
Parental Sequence NM_000405.5
Parental seq. overlap 1136 bp
Parental seq. overlap (%) 31.5%
Genomic Region Intergenic
Retrocopy Summary GM2AP1, located on chr3:145684536-145685953, is a retrocopy of the parental gene GM2A. 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 GM2A
Full Name ganglioside GM2 activator
Also known as GM2-AP|GM2AP|SAP-3
Coordinate chr5:151253185-151270440
Strand +
Gene summary This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes GM2AP2
Bonobo Pan paniscus GM2AP2
Gorilla Gorilla gorilla GM2AP2
Orangutan Pongo abelii GM2AP1
Gibbon Nomascus leucogenys GM2AP1
Green monkey Chlorocebus sabaeus GM2AP1
Crab-eating macaque Macaca fascicularis GM2AP2
Rhesus Macaca mulatta GM2AP2
Baboon Papio anubis GM2AP1
Golden snub-nosed monkey Rhinopithecus roxellana GM2AP1
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

>GM2AP1
TGCAGTTAACTCCACCCGGACCCACCCTTCGCAACGCAATCCCTGACGCAGACTTCGCTCCAGATCGCCCTGGGCTTGCTTCTCGCGCCCCTGTGCAAGCCCACCTGAAAAAGCTCAGTAGCTTTTCCTGGAATAACTGTGATGAAGGGAAGGACCCTGCGGTGATCAGAGGCGTAACTCTGGAGCCTGACCCCATCATTCTTCCGGAGAACGTGACCCTCAGTCTCCTGGGCAGCACCACTGTCTCCCTGAGTTCTCGTCTGGAGATGGATTTAGTTTTGGAGAAGGAAGTGGCTGGCCCCTGGATCAAGACCCCATGGCAGCTGTACCTTTGAACACTTTTGGGGGTGCCTGCCCAGAGCCCCTACATACCTATGGGCTTCCTTGCCACTATCCCTTCGAAGAAGGAACCTACTCACTGCCCAAGAGCAAATTCACTGTGCCTTACCTGGAGCTGCCCAGCTGGCTCACCACAGGGAACTACGGCATAGAGAGCGTCCTGAGCAGCGGCGGGAAGCGTCTGAGCTGCATCAAGATCGCTGCCTCTGTAAAGGGCATATAGCACGGCATCCATCACAGCCGAATGGAGGGGTGTGAGGAAGATCCCTTTTCCTCTGTCTTGGGTTTGCCAAGGCCAAATTCCCACTCTCTGCCCCACTTTAATCCCCTTTCTACAATGAGTCCGCTACCCTTACTGAAAATCATTTTGTGCCACTTAACATTTTAGGCTGGGGCAAGCCGCCCTGGCCTAAGGGAGGATGAGATGGACAGTTCTTGATAGCCCAGGGCATCTGCTGGGCTGACCACATTATCCATCCCCATTAGACATTCTCTGTAAAGAGCCTCATTCATTTCCAAAGCAGTTGAGGAATGGGAACCAGTGTGTTTTAGGACCTGAAGAATCTTTATGATTTTTTTTTTTTTGTCACTAAGTTAAAGGCAAAGTGAGAGTATTAACGACTTTGTTCTCCTCCAGCCCCCTGTTATAACGAAGAGGAGAAAGGAGTTGCTCTTAGTCTATTCCTCCCTTAATTTCTGCGGCTAATTTTGATTTCCTTTGTAGATTTGCCCAATTAATACTAGTGTGCAGTATATCCTGGAGAGGTAGGGTGTGTGGGGCAGGAATCCCTTGGCAGAGATATTAGGAGTGCTCTGTTGTTTACAAACTCAGGTACTCGCAGGGCTTAGCAAGAGACTTAAATGAGTGACAAGGACTGTGAGAAACATGTTGATTCCAGGCTTGA
>NM_000405.5
GCAGTTAACTCCGCCCTGACCCACCCTTCCCGATGCAGTCCCTGATGCAGGCTCCCCTCCTGATCGCCCTGGGCTTGCTTCTCGCGGCCCCTGCGCAAGCCCACCTGAAAAAGCCATCCCAGCTCAGTAGCTTTTCCTGGGATAACTGTGATGAAGGGAAGGACCCTGCGGTGATCAGAAGCCTGACTCTGGAGCCTGACCCCATCATCGTTCCTGGAAATGTGACCCTCAGTGTCATGGGCAGCACCAGTGTCCCCCTGAGTTCTCCTCTGAAGGTGGATTTAGTTTTGGAGAAGGAGGTGGCTGGCCTCTGGATCAAGATCCCATGCACAGACTACATTGGCAGCTGTACCTTTGAACACTTCTGTGATGTGCTTGACATGTTAATTCCTACTGGGGAGCCCTGCCCAGAGCCCCTGCGTACCTATGGGCTTCCTTGCCACTGTCCCTTCAAAGAAGGAACCTACTCACTGCCCAAGAGCGAATTCGTTGTGCCTGACCTGGAGCTGCCCAGTTGGCTCACCACCGGGAACTACCGCATAGAGAGCGTCCTGAGCAGCAGTGGGAAGCGTCTGGGCTGCATCAAGATCGCTGCCTCTCTAAAGGGCATATAACATGGCATCTGCCACAGCAGAATGGAGCGGTGTGAGGAAGGTCCCTTTTCCTCTGTTTTGTGTTTGCCAAGGCCAAACTCCCACTCTCTGCCCCCCTTTAATCCCCTTTCTACAGTGAGTCCACTACCCTCACTGAAAATCATTTTGTACCACTTACATTTTAGGCTGGGGCAAGCAGCCCTGACCTAAGGGAGAATGAGTTGGACAGTTCTTGATAGCCCAGGGCATCTGCTGGGCTGACCACGTTACTCATCCCCGTTAACATTCTCTCTAAAGAGCCTCGTTCATTTCCAAAGCAGTTAAGGAATGGGAACCAGAGTGTTTTAGGACCTGAAGAATCTTTATGACTCTCTCTCTTTCACTCTTTTTTTTTTTTGTCACTAAGTTAAAAGCGAAGTGAGAGTATTAACGTTTTTGTTCTCCTCCGGCCCCCTGTTACAATGAAGGGGCAAAAGTATTTGCTCTTAGTCTATTCCTCCCTTAACTTCTGTGACTAATTTTTATTTCCTTTCTAGATTTGCCCAATTAATACTAGGGTGCAGTGTATCCTGGAGAGGTAGGGTGTGTGGGGGAGGAATCCCTTGGGGGAGATATTAGGAGTGCTCTGTTGTTTACAAACTCAGGTACCCGCAGGGCCTAGCAAGAGACTTAAATGACTGATAAGAACCGTGAGAAACATGTTGCTTCCAGGCTTGATTTCGAtttttcgctttttttttttttgagacagaatctcactttgtcaccaggctggagtgcagtggtgcaatctcacctcactgcaacctccgcctcctgggttcaagcaattctcctgcctcagcctcccaagtagcttggactacaggccctgccaccacgcccggctaatttgtgtatttttagtagagatggggtttcaccatgttggccaggatggtctcgatctcttgacctcgtgatctgtccaccttggccttgcaaagcgctggattacaggcatgagccactacacccagccGATTTTTCCTTTTTGATTAAAGATGCTATTACAATGTAAATATTTCTTACACAGAAAGTCACAGCACATGTGCCCATTGATACAAGGCTGCTGAGGCCTGGTCTCCAGTTGGAAATATAATTAAgggtggcaaggactggagtcagttggagagtgcatagccagtctgtgaagacaactgccagatactggcaatactccagcctggtgacagagtgagactctgtctcaaaaaaaaagtttcaatgtttactcctagagaagccaaaaatccagatttgtatatgaaatcttaccattttaaaagattggcagctaattatttttttaaaaagctgtgcagtgtgatgtgtcccaaacggactggctcatgggtggccacgtcacaacctctgATCTCAGACCGTGCATGCCTTGTCCTCTTAAGACAACTCCTGTGGCACCGTTTCTCCCTCCACAGGGCCAAAGCCATAGTGTCCGGTCCCAAGGACAAGGCTCTTCCAGTGCTAGGAGAGGTATGAGCAGCCTCTCACCTGTGAGCTGTGGGGATCACAAGGCTGCCTGCCTCAGTCTTGGAGTCCTGTTGGGTGAATGAGGCAGATGGGAAAGAGCCTCACCAGCAGCTGCTTTTGGAGCAGGGGTCCAAGGAAGAGAGGGTGGCCTCGACATCAAACTGCCTGGATTTTTCTACCACCCTGTTACATCATAACAACTTCTGAAACACACACCAGCCCTGAGTTCTGGGCTCATTTGAAGCCTGGAATAGCAATAAATCTTTTTAACTTGCGGACAGTTTCCCCTTGCCTTGGCTGCATATTTCACTGATCACATCTCAGGATTTCAAAAGCATTTTTGGGGTGGGGCTCTTTTGGTTGGAAGGGTTTGTTGGAACGGTACAGGTGAGCCGAGGTGATTCCAGGGACGGACCCTTCTGCAGGAGCTTGAGCTTGCTTGTTGTCTCTGCTTCATCGCCATCCAGCTCCCTTGTTTGCTATTTTGCTTTCCATCACATCATGACtgcggagagcaaaaatcacctagtgaccattgaacaggtcccagagacaaaatctttttatctgaggaatttaAaagggagcaaagaccacctggtgactatcaggccatgcagaggcaaaacgccttatttggggaaaattaaaagtaattagactttcctattatctaaagcaggcatctggttccagatttcttttccccgaaaaaaaccttagaagtaactaaaatttctgtacatctccggaatgccatgctgaaactcactgcaaccccacggtcccgctttaaggtccataaatatccctaaggaaaaatccaccgtggtacattcagtcctctcaccgaggtgccccatggcagtcttctgcagcattcttctaatacctttcctttttcaaacctatactgttgttggtgaattctttttaccaacccacgagttgaccacttcccaatgccggggatctgacacctcacctggcaATGACCTCCACAGCCGTTTCCCTCTGTTGGATCTTCCAGCCTTATTCTCAACAGTTCATTTTTAGTTCACATTCTTGACCGAATCTCAGTAGCTCAGTTAATCTTTTTATGTCTGCTCTGCTCTTGGGTCATATGTTCCGTGAGGTTTCTTAGGGGTGGGGGATGAGGAGTTaaaggtggcatcttcaatcgcaggtcaaagcagactttaataaatggtgctgagccaactggaaagccccttggagaaagttgaagttagacctgtacttcacaccatatgcaagaatgaactccatctggatccaggatccaaatgtaagaaaatgaagccatataaatacagaaggaaacgtggtggaaatatccagtggcaacaaaatattgacacatttgactacatgaagataataaaaatgcttagtaaaaacacaataaaatcaaatgactgggagaaaaatttatccagcctatataatagacaaa

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