Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name GNASP1
Plot displaying the genomic locations of a retrocopy (in chr11) and its respective parental gene (in chr20). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr11:56735850-56736452  UCSC
Coordinates (T2T) chr11:56684954-56685556  UCSC
Coordinates (hg19) chr11:56503326-56503928  UCSC
Strand -
Parental Sequence NM_001309842.2
Parental seq. overlap 542 bp
Parental seq. overlap (%) 48.4%
Genomic Region Intergenic
Retrocopy Summary GNASP1, located on chr11:56735850-56736452, is a retrocopy of the parental gene GNAS. 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 GNAS
Full Name GNAS complex locus
Also known as AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI
Coordinate chr20:58839681-58911192
Strand +
Gene summary This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes GNASP1
Bonobo Pan paniscus LOC100990650P1
Gorilla Gorilla gorilla GNASP1
Orangutan Pongo abelii Without Homology
Gibbon Nomascus leucogenys Without Homology
Green monkey Chlorocebus sabaeus Without Homology
Crab-eating macaque Macaca fascicularis Without Homology
Rhesus Macaca mulatta Without Homology
Baboon Papio anubis 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

>GNASP1
ACCGCCTGCTACTCCTGGGTGCTGGAGAATCTGGTAAAGGCACCAATGTGAAGCAGATGAGGATCCTACATGTTAATGGGTTTAATGGAGAGGACACTGAAGAGGACCTGCAGGCTGCAAGGAGCAACAGAGATGGAATATATTACCCCTGGATGATGGCTACAGTTTCTCATCTTCCTGGCTATGTCCTCTCACAATTCGCATGCTGGAATTGCTAGGTCTTAGGAACTCCTAGTAAGAATACTATTCTGTTGTCTGGAAGGGAGCGGGGATGGGGCTCCTACTTCCTGACCTTGAATTATGATTGAAAAAAATAATAAAAAATGGACTGAAATCCTTAATTGGTAAAAATGTAGTATGACAATTATCCAAAAAATCATCTATATAAGAAATGACTAATTGACAAGCTAAGGTACCAAAAGTTGGCATTTGAGCAAAATATGACAAGTCCTTAGTGAGCAACCTACTGTGTACTAAATGTTGTGCGAAACCCTTGAACCCCACTAATACCTTGCCTGCATATCTCTCTGTGACTCTGTTCTGCAAGTAAATATAAGTATTAACATTTGTGATAAATAAAAATTCTCTGCATGTTTCAGCAAA
>NM_001309842.2
agcagctcccgcagctcctgctctggtccgcctcggcccggcggcggccatcagccccctcggcctcggctcgAGGGGCGGGGAGCTGCGCGCGCCCCTCGGTCCGACCGACACCCTCCCCTTCCCGCCCGTCCGCGCGCCCCGCGGCCCGCGGCCCGCAGTCCGCCCCGCGCGCTCCTTGCCGAGGAGCCGAGCCCGCGCCCGGCCCGCCCGCCCGGCGCTGCCCCGGCCCTCCCGGCCCGCGTGAGGCCGCCCGCGCccgccgccgccgcagcccggccgcgccccgccgccgccgccgccgccATGGGCTGCCTCGGGAACAGTAAGACCGAGGACCAGCGCAACGAGGAGAAGGCGCAGCGTGAGGCCAACAAAAAGATCGAGAAGCAGCTGCAGAAGGACAAGCAGGTCTACCGGGCCACGCACCGCCTGCTGCTGCTGGGTGCTGGAGAATCTGGTAAAAGCACCATTGTGAAGCAGATGAGGATCCTGCATGTTAATGGGTTTAATGGAGAGGGCGGCGAAGAGGACCCGCAGGCTGCAAGGAGCAACAGCGATGGAATATAATATCCCTAGATGATGGCTACAGTTTCTCATCTTCCCGGCTATGTCCTATCACAATTTGCATGCTGGAATTGCTCGGTCTTAGGAACTTCTAATAAGAATACTATTCTGTTATCTGAGGGGGGAGGGGGGATGGGGCCCCTGCTACCTGACCTTAAACGATGATTGAAAAAACGAAAAATGAACTGAAATCCTTAATTGGCAGAAATGTAGTATGACAACTATCCAAAAAGGCATCTCTATAAGAAATGACTAATTGACAATCTGCTGTACCAAAAGTTGGCATTTGAGCAAGATATGACAAGTCCTTAGTGAGCAACCTACTGTGTACTAGATGTCCTGCTAAACCCTTGAACCCTACTAATACCTTGGCCTGCACGTCTCTCTCACTCTGTTCTGCAAGTCAATATAAGTATTAACATTCGTGATAAATAAAAATTCTCTGCATGTTTCAGCAATCCCTGTATCTCGCGTCTGTCTTCTGTCTTCCTTCCTTTGTCTGTCTTTTCCCACCAAAGCACAAGGATTAAGGTGGAGACCTGAATAG

Publications

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