Retrocopy Name | SLC19A3P1 |
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Species | Homo sapiens | |
Coordinates (hg38) | chr7:55245004-55245233 UCSC | |
Coordinates (T2T) | chr7:55405573-55405802 UCSC | |
Coordinates (hg19) | chr7:55312697-55312926 UCSC | |
Strand | + | |
Parental Sequence | NM_001371414.1 | |
Parental seq. overlap | 187 bp | |
Parental seq. overlap (%) | 3.2% | |
Genomic Region |
Intergenic |
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Retrocopy Summary | SLC19A3P1, located on chr7:55245004-55245233, is a retrocopy of the parental gene SLC19A3. 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. |
Gene Name | SLC19A3 |
Full Name | solute carrier family 19 member 3 |
Also known as | BBGD|THMD2|THTR2|hTHTR2|thTr-2 |
Coordinate | chr2:227683763-227718030 |
Strand | - |
Gene summary | This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] |
Species | Scientific Name | Retrocopy | |
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Chimpanzee | Pan troglodytes | SLC19A3P1 |
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Gorilla | Gorilla gorilla | LOC101137672P1 |
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Orangutan | Pongo abelii | SLC19A3P1 |
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Golden snub-nosed monkey | Rhinopithecus roxellana | SLC19A3P1 |
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Bonobo | Pan paniscus | Without Homology |
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Gibbon | Nomascus leucogenys | Without Homology |
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Green monkey | Chlorocebus sabaeus | Without Homology |
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Crab-eating macaque | Macaca fascicularis | Without Homology |
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Rhesus | Macaca mulatta | Without Homology |
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Baboon | Papio anubis | Without Homology |
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Marmoset | Callithrix jacchus | Without Homology |
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Mouse lemur | Microcebus murinus | Without Homology |
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Mouse | Mus musculus | Without Homology |
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Rat | Rattus norvegicus | Without Homology |
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Chinese hamster | Cricetulus griseus | Without Homology |
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Rabbit | Oryctolagus cuniculus | Without Homology |
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Pig | Sus scrofa | Without Homology |
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Cow | Bos taurus | Without Homology |
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Sheep | Ovis aries | Without Homology |
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Dolphin | Tursiops truncatus | Without Homology |
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Horse | Equus caballus | Without Homology |
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Dog | Canis familiaris | Without Homology |
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Panda | Ailuropoda melanoleuca | Without Homology |
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Cat | Felis catus | Without Homology |
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Pale spear-nosed bat | Phyllostomus discolor | Without Homology |
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Velvety free-tailed bat | Molossus molossus | Without Homology |
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Greater mouse-eared bat | Myotis myotis | Without Homology |
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Kuhl's pipistrelle | Pipistrellus kuhlii | Without Homology |
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Greater horseshoe bat | Rhinolophus ferrumequinum | Without Homology |
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Egyptian rousette | Rousettus aegyptiacus | Without Homology |
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Sloth | Choloepus didactylus | Without Homology |
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Tasmanian Devil | Sarcophilus harrisii | Without Homology |
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Opossum | Monodelphis domestica | Without Homology |
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Platypus | Ornithorhynchus anatinus | Without Homology |
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Chicken | Gallus gallus | Without Homology |
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Turkey | Meleagris gallopavo | Without Homology |
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Zebra Finch | Taeniopygia guttata | Without Homology |
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Budgerigar | Melopsittacus undulatus | Without Homology |
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Painted Turtle | Chrysemys picta | Without Homology |
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Lizard | Anolis Carolinensis | Without Homology |
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Frog | Xenopus tropicalis | Without Homology |
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Zebrafish | Danio rerio | Without Homology |
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Drosophila | Drosophila melanogaster | Without Homology |
>SLC19A3P1 |
ATGGTTCCAAGATTTGAAGTAGTGTTACTCCTCAGAGGCCTTTGTTACTAATCCCCACGGTGGGCTTTTTCCACCACAGGTTTTAACCTAGCTTTGAACTATGTTCAAGTCCTATGAGGTTGCAAAGCACCACCCCAATATTCTTATACCTATAACGGGGCACAGAAGCTACTGAAGCATTTGGTAGGGCTGTGGCTGCCTGTGCAGTGGGCTATGTGAAAATCAACTGG |
>NM_001371414.1 |
TTGTTGTTATTAACACAGTCGTTctctgttgcccaggttggggtgcagtggcatgatctccactcactgcaacctccatctcccgggttcaagtgattctcctgcctcagccacccaagtagctgggattacaggcacccaccaccgcaaccgactaatttttgcgttattagtagagatggggtttcactctgttggccaggctagtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagcgctgggattacaagcatgagccactacacccagccTTTTAAAATTTTTAATCTACCGTTTACACAGTGTTCTTGTACCTTTTTAAAAAGTGATAGAGCTTATAATAATGGGTGAAGATGACTGCTACAGGAGTAACTTTTAAAAGGACTATCTTGTGATTTGGAACACACAGAAAATGAAGGGGAAAGGTAAACATCTGGCTTTCACAGCCATGGATTGTTACAGAACTTCACTAAGCAGTTCCTGGATTTACCCCACTGTGATCCTCTGCTTATTTGGTTTTTTCTCCATGATGAGACCCTCAGAACCATTCCTTATCCCATATTTATCTGGACCAGATAAAAACCTGACCAGTGCAGAGGTTGAAGCATGCCACAATTAAGACAACAAAGGACAGATGCAGGGTCAGAAGCAACTCAATGAATCCACTGGGTTCTGCTTCTCGAGCCACTGTGGACCAGTTAACAGACCTTCCCTCCAAGGAGCAGCTCAGTTGTGTGGTCTTTGCTCTGTGGCCTCCTGCTTTCTCCAGCAACCTCAGTGATCCAGGTGTCAAGATAACAAATGAGATCTTCCCCGTTTGGACATACTCCTACCTGGTGCTGCTGCTGCCTGTGTTTGTCCTCACCGATTATGTCCGCTACAAGCCAGTCATCATCTTGCAAGGTATCAGTTTCATCATTACCTGGCTGCTGCTGTTGTTTGGCCAAGGAGTGAAGACCATGCAGGTTGTAGAGTTCTTCTATGGGATGGTCACCGCCGCCGAGGTGGCCTACTACGCCTACATATACAGCGTGGTCAGCCCCGAGCACTACCAGAGAGTGAGCGGCTACTGCAGGAGCGTCACGCTGGCCGCCTACACAGCAGGGTCGGTGCTGGCTCAACTCTTGGTATCCCTGGCGAACATGTCGTACTTTTACCTCAACGTCATATCCTTGGCCTCTGTCTCCGTGGCTTTCCTTTTCTCACTTTTCCTACCAATGCCCAAGAAAAGCATGTTTTTTCATGCAAAACCCAGCAGAGAAATAAAGAAGTCATCAAGCGTGAATCCAGTATTAGAGGAAACTCACGAAGGTGAAGCACCAGGCTGTGAAGAGCAGAAACCCACATCAGAAATACTCAGCACTTCAGGGAAGCTGAATAAGGGCCAGCTGAACAGCCTGAAACCAAGCAATGTGACTGTGGACGTTTTTGTGCAGTGGTTCCAAGATTTGAAGGAGTGCTACTCCTCAAAACGTCTTTTCTACTGGTCTCTATGGTGGGCTTTCGCCACAGCAGGTTTTAACCAGGTTTTGAACTATGTTCAAATCCTGTGGGATTACAAGGCGCCATCCCAAGATTCTTCCATCTATAATGGGGCCGTAGAAGCTATTGCAACCTTTGGAGGGGCTGTGGCTGCCTTTGCAGTGGGTTATGTGAAAGTCAACTGGGACCTTCTGGGAGAGCTGGCTCTGGTGGTCTTCTCAGTTGTCAATGCCGGTTCTTTATTTCTCATGCATTACACAGCCAATATCTGGGCGTGCTATGCTGGCTATTTGATATTCAAGTCCAGCTATATGCTTCTTATAACCATAGCAGTATTTCAGATTGCAGTTAATCTGAATGTGGAACGCTATGCCTTGGTATTTGGAATCAACACCTTTATTGCCTTGGTGATTCAGACCATCATGACTGTGATTGTAGTAGATCAGAGAGGGCTCAACTTGCCAGTCAGCATTCAGTTTTTAGTTTATGGGAGCTATTTTGCAGTAATTGCTGGAATTTTCCTAATGAGAAGCATGTATATTACCTACTCAACCAAATCCCAGAAGGATGTACAGAGCCCTGCTCCAAGTGAGAATCCAGATGTGTCTCACCCAGAGGAAGAGAGTAATATCATCATGTCAACAAAACTCTAACCTCATCGCAACAAACGCAACAGTGGCTTTCAAAGTTATGCAATAATAAGGAAAGATTTTGAGATGGGTGGCATATGTTTTGCCATAACTTGACATGCTTTGCAAATCTGGATTCCAATGGACCTTTCAAAACCACAACAAAACCTCAGTTTTAGATGAGTTCTCTATGTGACCAATTTTACTGGATGCAATTGACAGGACCCGTCATCATAATTAAACAACCCATATTGGGGACCCCCTGTGACTAGTAGCAGCTGGAAAATTCTGGTTTTTATCACTTGTAAAGACATGCAGATGGCGTGGAACCAAACCATGAGAAAACTCCAGCCATCCTGGAGTTGATATTCACCATTTGTGAGGAGAAATACTAACTGGACTGACCCTATTGCTAGGCTTAAATACTTATTTGATCTTACCAAAGAAGTCAACACATGGGACCTTTGTGTCACATGAACCATTTTCTTTCCTCTTCTATTAAGTGTATTTCTGTTTAAGTTACAGTTCTCTAAGAGAATTACAATGTTTGTCCCATTTCTAAGGGCTTCTCTTCAACTCTAATAACAGCATTATTCACGttatgatttgatagtattattatttaatttttttatgattattTTCCATTTTGTGCTCTGAGTTTTGCTGTTGAAAGTCTCCCTCAAGAATAGCTTCAGATCCTCTTGTGTATTTGCAGAATACACAAGGTCATTTCCCAGTGGCCTGGGAGAGGCAGTGAGCCTTCTCTCCACCACCATAGACAGGTGTTAATGCATCTATGggccaggtgcagtggctcactcctgtaatccgagcaatttgggaggccaaggtgggagttttgcttgaggccagaggttcaagaccagcctgggcaacacagtgacacctgactctactaaaaaattaaaaaattagctgggcagcgtggtgtgtgcctgtagtctcagctacttgggaggccatggtgggaggatgggttgagcacaggagtcagaggctacagtgagctatgattgcaccattgcactccagcctgggcaacagagtaagactctCATCCCCCTCCTCCCAAAAAAGAGCACCTGTGTGGTGTCTGTCTAAAATAGGAAAACTTAAAGGAGGTTTCTAGAAGTATTAGAAATAAGAAAACACTGATGGGGGGAGTGGAATAAAACACCTGAttttgttttgttttggtttttgagacagtctcgctctctcacccaggctggaatgcaatggcgtgatcttggctcactgcaaacttcacctcctgagttcaagccattctcctacctcagcctcccaagtagctgggactatgggtgcacaccaccacgcctggctaatttttgtatttttagtggagatggggtttcacaatgttggccaggctggtctcaaactcctgacttcaggtgatctgtctgcctcggcctcccaaagagctgagattacaggcgtgagccaccatgcctggccAAAACACCTGATTTTTAAATGGTAGCAATTGTGCTAAATAAAATGTGTAAAAATTTTAAAGAGTTGTTAACATTTTTTGATGAATTCTGCTGAAAATTATCTGAACATACCTGTTTTTCGAAACTTCAAGAAACTTCAATAAGGGATGCATTGAGCAGTCTGACAGTGAGAATAAAGAATGCTGAGTCAAGATTTATATTAAggctggaagctgtggctcacacctgtaatcccagcattttgggaggctgaagtgagaggttaatttgagggtaggggtatgagaccatcttggccaatatagcaagaccctgtgtctaaaacaaacaaaaaaaTTTTTAATTGGATTTtgatatggtttggatctgtgtccccaccaaatctcacgttgaagtgtaatccccaatgttagaggtggggccggctgggaggcgactggatcatgggtgtgaagccttcatgaatggtttggcaccgtcccctcagtgctggtctcatgacagtgagttatcgtgagatctggtagtttaaaagtgtgtagcacctccccactctctctttctcctgctttggccacgtgaagatgcctgctcccactttgccttctgccatgagtaaaaattccccgaggactccctagaagcagatgttgccacgcttcctatatagcctgtgagctaattaaaccccttttcttacaaactatctagtctcaggtgtttctttatagcaatgtgataatggactaataTGTTTCTCAAGTATACTCCTCTCCAAATCCCGAAATTCTTCACTGGACTAAGATCCAGCCCAAGAATCAATGCACTCACTTAGTGGAGAAAACTAATAACATTCCTACTTACATTAAAGGCAAGGAAGGAATGGCCGCTATTCTTTTTCTTCTTCttctttttttttttttttttttttttttgatagaatcttgctctgtcacccaggctggagtgcaatgacgcaatgtcagctcactgcaacctccgcctcccgggttcaagcaattctcctgcctcagcctcccgagtagctgggattacaggcgtgcaccaccatgcccggctgatttttgtatatttagtagagacggggtttcaccatgttggtcaggctggtttcaaactcctggtctcaggtgatccgcccgtctcggtctcccaaagtgttgggattacaggcttcagccaccTCACACCCAGTCTATTATCCTTCTTTTTTAACTTATTATTCTGGAGGCATTAGGCATCACAATTAGACAAACAAGAAAAATCAGAGGTCAGAAATTGGAAAGGAggccaggtgcagtggctcacgcctgtaatcccaacactttgggaggctgaggcggtcagatcacatgaggccaggaattggaggcaagcctgggcaacatgatgaaaccctgtatgtactaaaaacaacaaaattagccgggtgtggtccatgcctgtaatcccagccactcggtggctgaagcataagagtcacttaaacccaggaggcagaggttgcagtgagttgagattgtgccactgcactccagcctgagcgacagagtgagacccAAAGTGGATTAAAAAATGCATTATGATTCCTTCACATATTCACCTATAACAAAATTAACTGCTaaaaaatgaggaagatctttagtgacacagaactctaagagctctactatcaagtggaaaaaagtcaagcaccaaaataataatgaacgcagcaactcagcatttgtataaaaaggacaaaaatatctgtattggcttatatatgcgtataacttttctaaaaagacaAATGAggcctggcacggtggctcatgcctgtaatcctggcactttgggaggctgaggtaggtggattgcttgagttcaggagttcaaaaccagcctaggcaacatggcaaaaccctgtctctacaaaaaatacaaaaattagctgggcatggtggcttgcacctggactcccagctacttgaggggatgagaagggaggatcgcttgagcccaggaggtggaggttgcagtgagctgagatcatgccactgcactccagccctgatgacagagtgagaccctgtcttgaacaaacaaaCCaacaatcaaacaaataaataaacaaCTGAAACTCATACCAA 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PMID - Link | Title |
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No publications available for this retrocopy |