Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

Summary

Retrocopy Name SERF1AP1
Plot displaying the genomic locations of a retrocopy (in chr4) and its respective parental gene (in chr5). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr4:137300805-137301268  UCSC
Coordinates (T2T) chr4:140623750-140624213  UCSC
Coordinates (hg19) chr4:138221959-138222422  UCSC
Strand -
Parental Sequence NM_022968.2_3
Parental seq. overlap 415 bp
Parental seq. overlap (%) 59.2%
Genomic Region Intergenic
Retrocopy Summary SERF1AP1, located on chr4:137300805-137301268, is a retrocopy of the parental gene SERF1A. 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 SERF1A
Full Name small EDRK-rich factor 1A
Also known as 4F5|FAM2A|H4F5|SERF1|SMAM1
Coordinate chr5:70900669-70918530
Strand +
Gene summary This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The duplication region includes both a telomeric and a centromeric copy of this gene. Deletions of this gene, the telomeric copy, often accompany deletions of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients, and so it is thought that this gene may be a modifier of the SMA phenotype. The function of this protein is not known; however, it bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. [provided by RefSeq, Jul 2008]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes LOC741943P1
Bonobo Pan paniscus SERF1AP1
Gorilla Gorilla gorilla SERF1AP1
Orangutan Pongo abelii SERF1AP1
Gibbon Nomascus leucogenys SERF1AP2
Green monkey Chlorocebus sabaeus SERF1AP2
Rhesus Macaca mulatta SERF1AP1
Baboon Papio anubis SERF1AP1
Golden snub-nosed monkey Rhinopithecus roxellana SERF1AP1
Marmoset Callithrix jacchus SERF1AP1
Crab-eating macaque Macaca fascicularis 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

>SERF1AP1
CGGTGGTGATGGTAGCCTAGTGTGCCAGGGAGCTGTTGCTTTTTCTGAGTCGCTTTATTCCAGGCTCTGTCAATGGTCGGCATGGCCCGTGGAAATCAATGAGAACTTGTCCACCAGAAAAAACATGGAGAAAACCCAGGAAAATAGTAAGGGGAAAAGAAAAGAGGATAGGTTGACTACCTCTCAGAGAAAGCATAGGGACTCTGAGCTCATGCAACAAAAGCAGAAGGCAGCTAATGAGAAGTCTATGCAGACAAAAGAAAAATAATGACTGGCTATTTGGAAAACATGGGTGCTACTGCCAACTGGGTGTGTCATAAGCTTTAAGGTCAAGATTCTGTAGAGTGAATAGTCATTACATATACTATGACTTATACTTTAAAAACTATTTTAAACTTTACCTTTCAGCTTGACTTAGTGTGATGTTTTAGAAGCATTCTTCAAAGAATAAAGCACTAACCATA
>NM_022968.2_3
AGTGACGCGCCGGCCATGCCGGCGGCTGTTGTCGGGCCTCCAGCGGGCGGGGCCGTTGGCGGAGCAGAGGGGAGGCGCAGCCGGGCGGAGGGCCCACGAGGGCTCAGCCTTCCCGGTCAGCGGTGGTGACGGTATCCCAGAGTGCCAGAGAACCGTTGCTTTTCCGAGTTGCTCTTCTTCCAGGCTCCGTTGGTGGTCGGCATGGCCCGTGGAAATCAACGAGAACTTGCCCGCCAGAAAAACATGAAGAAAACCCAGGAAATTAGCAAGGGAAAGAGGAAAGAGGATAGCTTGACTGCCTCTCAGAGAAAGCAGAGGGACTCTGAGATCATGCAAGAAAAGCAGAAGGCAGCTAATGAGAAGAAGTCTATGCAGACAAGAGAAAAGTGATGACTGGCTATTTGGAAAACCTGGGTGCTACTGCCAACTGGGTGTATCATAAGCTCTAAGATCAAGATTTTGTAGAGTGGACAGTCATTACATATGTTATAACTTATCCTTTAAAAACTATTTTAAACTTTATCCTTTCAGCTTTACTTAGTGCGATGTTTTAGAAGCAGTCTTCAAAGAATAAAACACTAACCATGCATGTGACATATTGGTGAACATTATTTTTATTATTGAACATTCATATATAATTTATTAGGTAATATGATCAGATAATAGGATCTCTTATATAATAAAGAATCTTTGTCATCA

Publications

PMID - Link Title