Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name HAX1P1
Plot displaying the genomic locations of a retrocopy (in chrX) and its respective parental gene (in chr1). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chrX:148197831-148198973  UCSC
Coordinates (T2T) chrX:146464211-146465353  UCSC
Coordinates (hg19) chrX:147279351-147280493  UCSC
Strand -
Parental Sequence NM_006118.4
Parental seq. overlap 800 bp
Parental seq. overlap (%) 59.6%
Genomic Region Intergenic
Retrocopy Summary HAX1P1, located on chrX:148197831-148198973, is a retrocopy of the parental gene HAX1. 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 HAX1
Full Name HCLS1 associated protein X-1
Also known as HCLSBP1|HS1BP1|SCN3
Coordinate chr1:154272629-154275875
Strand +
Gene summary The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Homology

Species Scientific Name Retrocopy
Bonobo Pan paniscus HAX1P1
Orangutan Pongo abelii HAX1P1
Gibbon Nomascus leucogenys HAX1P1
Green monkey Chlorocebus sabaeus HAX1P1
Crab-eating macaque Macaca fascicularis HAX1P1
Rhesus Macaca mulatta HAX1P1
Baboon Papio anubis LOC101023324P1
Golden snub-nosed monkey Rhinopithecus roxellana HAX1P1
Chimpanzee Pan troglodytes Without Homology
Gorilla Gorilla gorilla 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

>HAX1P1
ACAACAAGGAATTTGGCTTTGACTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACAAGATTTCAATAGCATCTTCAGCAATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGAACTTCCAGGTTCTGAGTCAGAGACACCTGGTGAGAGACTGCGGGAGGGACAGGCACTTCGAGAATCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGAGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCAAACCAGCACCAGATTGAGGCTCCCAGAGACCATTTCATGGGTTTGATGACGTATGGCCTGTGGACCCCCATCCTAGAACCAGAGAGGACAATGATCTTGATTCCCGGGTTTCCCAGGAGCGTCTTGGCCCGGTTCTACAGCCCCAGCCCAGATCTACTTCAAGAGCATCTCTGTGACCAAAATCACTAAGCCAGATGGGATAGTGGAGGAGCGCTGGACTGTGGTGGACAGTGAGGGCCAGACAGAGACCGCAGTAACCCAACACGAAGCAGATAGCAGTCCTAGGATGATCCAAAATCACCAAGACCTCCAGCTCTGGATGATGCCTTCTCCATCCTGGACTTATTCCTAGGATGCTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATCAATAAGCTTAGCTTCTCCTCTTGCCCCCTCAGGGTCTTGGCTATGTGGAATAGTGAATTGGGGGCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAAAGGGGCTCATGGGGCTGTGGGAACCCAAGGTTCGATAATCCTCAGCATGACGCCTCACTCGATTTCCCACAGGGCTGCGCAGGTTTCCCCTTTCTGCGAATGGACCACTGGAGGGGTTCAAAGATTCCAGTTCTAATATGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCAGAGCTACAGAGATCCCTTTTTTGGAGGGATGACTCGa
>NM_006118.4
GACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGCCACAGAGATCCCTTTTTTGGAGGgatgactcgagatgaagatgatgatgaggaagaagaagaagaagGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAA

Publications

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