Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name AIFM1P1
Plot displaying the genomic locations of a retrocopy (in chr10) and its respective parental gene (in chrX). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr10:18735706-18738829  UCSC
Coordinates (T2T) chr10:18754778-18757901  UCSC
Coordinates (hg19) chr10:19024635-19027758  UCSC
Strand +
Parental Sequence NM_001130847.4
Parental seq. overlap 1785 bp
Parental seq. overlap (%) 72.5%
Genomic Region Intergenic
Retrocopy Summary AIFM1P1, located on chr10:18735706-18738829, is a retrocopy of the parental gene AIFM1. 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 AIFM1
Full Name apoptosis inducing factor mitochondria associated 1
Also known as AIF|AUNX1|CMT2D|CMTX4|COWCK|COXPD6|DFNX5|NADMR|NAMSD|PDCD8|SEMDHL
Coordinate chrX:130129362-130165841
Strand -
Gene summary This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes AIFM1P1
Bonobo Pan paniscus AIFM1P1
Gorilla Gorilla gorilla AIFM1P1
Orangutan Pongo abelii AIFM1P1
Gibbon Nomascus leucogenys AIFM1P1
Green monkey Chlorocebus sabaeus AIFM1P1
Crab-eating macaque Macaca fascicularis AIFM1P1
Rhesus Macaca mulatta AIFM1P1
Baboon Papio anubis AIFM1P1
Golden snub-nosed monkey Rhinopithecus roxellana AIFM1P1
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

>AIFM1P1
AAGGAAACGAAAGGAAGAGGTTCCGAGTAGCAGTTGCTGAAATGTTCTGATGTGGAGGCCTTGTGGTGGGTGCTTTGAAGCAGAAGCTGGTGCCCTTGGTGCAGATGGTGTGTGTCTGCAGCCTGAGGCAGAGGAACTGGCTTCTAAGCAACTTGTTCCAGCACTGGGGTGTTCCTCTAGAACTCCAGATGACATGACAAATGGCTAGCTCTGGTGCACCAGGAGGCAGAGTAGATAATTCTGTGTAAGTCCTTATTGTGGGCTTATCAACAGCAGGAGCTGGTGCATATGCCTGCAAGACTATAAAGGATAACCAAAAAAGATATAATGAAAGAATGCTAGGGTTAGGGCTGACATCAGAAGAGAAGCAAAAAAGGGCCACATTATCTGCTCTAGATGGAGAGCCAGTTCCTCAAGGCAGCTTGCCAAATCATGTCCCTTTCCTGCTAACTGGCGGAAGAACTGCTGTTTTTGCTGCAGCCGAAGCCACCTGGGTTCGGGATCCTGGGACCGGGGTCCTCATTATGTCTGAAGATCCTGAGCTGCCATACATGTGATCTCCCCTTTGAAAAGAACCATGGTAaAATTCCAAAAGAACTGTGGTTTTCAGATGACTCAGATGTCACAAAGACAGTGTGATTCAGACAGTGGAATGGAAAAAGAGAGAAGCATGTATTTCCAGCCACCTCTTTCTGTGTCTCTGCCCAGGACTTGCCTCACATTGAGAATGGTGTTGTGGCCATCCTCACGAGGTAGAAGATGGTATAGCTGAAAGTGAGAGGCAACACAGTGAAACTTAATGATGGCTCCCAAATAGCCTATGAAAACTGCTTGATTGCAACAAGAGGTCCTCCAAGAAGTCTGTCTGAAATTGATGAAGCTGGATCAGAGGTGAAGAGCAGAGCAACACTCTCTAGAAAGATTGGAGACTCTAGGACTCTGGAGAAGATTTCATGGAAGTCAAGTCAATTATGGTTATCGGTGGGGGCTTGCTTGGTGGTGAACTGGCCTGTGCTCTTGGCAGAAAGGGTTGGAGCCTTGGGCACAGAAGTGATTCACCTGTTTTCTGAGAAGGGAAATATGGGAAAGGTCTTCTGCAAATCCCTCTGCAACTGAACCGTGGAAAAAGTCAGACGAGAGGGGGTTAAGATGATACCCATTGCTGTTGTGCAACCGGTTGGAGTCAGCAGTGGCAAGTTACTCATCACGTTGAAAGATGGTGGGAAGGTAGAAACTGACCACATAGCAGCAGCCGTGAGCCTGAAGCCCAGTGCTGAGTTGGCCGAGAACTGGTGGGCTGGAAATAGGCCCAGATTTTGGTGGCTTCTGGGTAAATGTAGAGCTATACTCATGCCTAAACATCTGGGTGGCAGGAGATGCTGCATGCTTCTATGATATAAATCTGGGGAGGAGGCGGTTAGAGCACCATGATCAAGCTTTTGTGAGCAGAAGATTGGCTGGAGAAAATATGACTGGAGCTGCTAAGCCGTATTGGCATCAGTCAGTGTGCTGGAATGATTTGAGCCCTGATGCTGGCTATGAAGCTATTGGCCCACAGTTGGTGTTTTTGCAAAAGCAGCTGTGCAAGACAACCCAAAATCTGCCAAAGAGCAATCAGGAGCTGTTATCTGCTCAGAGAGTGAAACACGGTACGAGGCCTCAGAAATTACTCTTCCTCCTAGAACCCCTGCAGTTCCAAGGCTCCTCTCCAGGGAGAAGACTACGGCAAAGGTGACATTTTTGATCCCAGGGACAAAGTGGTCATGGGGCTCATGCTATATGGAACATCTTTAACCGAATGCCGATAGCAAGGAAGACCACTGAGGATGGTGAGCAACTTGAAGATCTCAATGAAGTGGCCAAACTATTCAACATTCATGAAAACTGAAGCCCACAGTGGAATAGACAAGCCCTTCAGTGTCCCTGAGAGTGGGTTGCATGGGTAAAGGAGCATTTTTTTTTAATTCAGCAAACTTTCTCTGTGTATATAAATGTGAATAATCAAGTCTCTTGTGAATGTTTTCAACCATGTAGGCAAATTCTTAATTTTCACATCATGAAAAAAATCTGATTCTTCTAAA
>NM_001130847.4
GTTCCCCTTCCCCGGCTCTAGCAGGCCGGCTTCTCTGTCCAATGCCCACCCGGAGCTGGGAGGAGGAGTCTGCGTAATGTGCGTGTGAAGAGACTGGGGGAGCTGGCCGGGGCTCACGGTGTTTGACCCGTCGGTCGTGCGTGAGAGGAAAGGGAAGGAGGAGGTCCCGAATAGCGGTCGCCGAAATGTTCCGGTGTGGAGGCCTGGCGGCGGGTGCTTTGAAGCAGAAGCTGGTGCCCTTGGTGCGGACCGTGTGCGTCCGAAGCCCGAGGCAGAGGAACCGGCTCCCAGGCAACTTGTTCCAGCGATGGCATGTTCCTCTAGAACTCCAGATGACAAGACAAATGGCTAGCTCTGGTGCATCAGGGGGCAAAATCGATAATTCTGTGTTAGTCCTTATTGTGGGCTTATCAACAGTAGGAGCTGGTGCCTATGCCTACAAGACTATGAAAGAGGATGAAAAAAGATACAATGAAAGAATTTCAGGGTTAGGGCTGACACCAGAACAGAAACAGAAAAAGGCCGCGTTATCTGCTTCAGAAGGAGAGGAAGTTCCTCAAGACAAGGCGCCAAGTCATGTTCCTTTCCTGCTAATTGGTGGAGGCACAGCTGCTTTTGCTGCAGCCAGATCCATCCGGGCTCGGGATCCTGGGGCCAGGGTACTGATTGTATCTGAAGATCCTGAGCTGCCGTACATGCGACCTCCTCTTTCAAAAGAACTGTGGTTTTCAGATGACCCAAATGTCACAAAGACACTGCGATTCAAACAGTGGAATGGAAAAGAGAGAAGCATATATTTCCAGCCACCTTCTTTCTATGTCTCTGCTCAGGACCTGCCTCATATTGAGAATGGTGGTGTGGCTGTCCTCACTGGGAAGAAGGTAGTACAGCTGGATGTGAGAGACAACATGGTGAAACTTAATGATGGCTCTCAAATAACCTATGAAAAGTGCTTGATTGCAACAGGAGGTACTCCAAGAAGTCTGTCTGCCATTGATAGGGCTGGAGCAGAGGTGAAGAGTAGAACAACGCTTTTCAGAAAGATTGGAGACTTTAGAAGCTTGGAGAAGATTTCACGGGAAGTCAAATCAATTACGATTATCGGTGGGGGCTTCCTTGGTAGCGAACTGGCCTGTGCTCTTGGCAGAAAGGATATATGAAATCAGGGCATCTTTTCAGGAGGATGCTTCCTATTCAGAGGTTGCAAAGCACTTATGTAAGCCTTAGGTGACTGCATGGGTGGAAGTGCACAGAGTTCACCATCTGAAGCTTAATCTGGGGCCAGCAGTTCTGATACCTGTTGTATTTGCGTTACAAATGAACTTGAGCACCGAGGCCCTCATGCCCACTGTCCTCTCGAGCCTTGGGCACAGAAGTGATTCAACTCTTCCCCGAGAAAGGAAATATGGGAAAGATCCTCCCCGAATACCTCAGCAACTGGACCATGGAAAAAGTCAGACGAGAGGGGGTTAAGGTGATGCCCAATGCTATTGTGCAATCCGTTGGAGTCAGCAGTGGCAAGTTACTTATCAAGCTgaaagacggcaggaagGTAGAAACTGACCACATAGTGGCAGCTGTGGGCCTGGAGCCCAATGTTGAGTTGGCCAAGACTGGTGGCCTGGAAATAGACTCAGATTTTGGTGGCTTCCGGGTAAATGCAGAGCTACAAGCACGCTCTAACATCTGGGTGGCAGGAGATGCTGCATGCTTCTACGATATAAAGTTGGGAAGGAGGCGGGTAGAGCACCATGATCACGCTGTTGTGAGTGGAAGATTGGCTGGAGAAAATATGACTGGAGCTGCTAAGCCGTACTGGCATCAGTCAATGTTCTGGAGTGATTTGGGCCCCGATGTTGGCTATGAAGCTATTGGTCTTGTGGACAGTAGTTTGCCCACAGTTGGTGTTTTTGCAAAAGCAACTGCACAAGACAACCCCAAATCTGCCACAGAGCAGTCAGGAACTGGTATCCGATCAGAGAGTGAGACAGAGTCCGAGGCCTCAGAAATTACTATTCCTCCCAGCACCCCGGCAGTTCCACAGGCTCCCGTCCAGGGGGAGGACTACGGCAAAGGTGTCATCTTCTACCTCAGGGACAAAGTGGTCGTGGGGATTGTGCTATGGAACATCTTTAACCGAATGCCAATAGCAAGGAAGATCATTAAGGACGGTGAGCAGCATGAAGATCTCAATGAAGTAGCCAAACTATTCAACATTCATGAAGACTGAAGCCCCACAGTGGAATTGGCAAACCCACTGCAGCCCCTGAGAGGAGGTCGAATGGGTAAAGGAGCATTTTTTTATTCAGCAGACTTTCTCTGTGTATGAGTGTGAATGATCAAGTCCTTTGTGAATATTTTCAACTATGTAGGTAAATTCTTAATGTTCACATAGTGAAATAAATTCTGATTCTTCTAAATTAAA

Publications

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