Gene Name | GET1 |
|
Specie | Homo sapiens | |
Full Name | guided entry of tail-anchored proteins factor 1 | |
Also known as | CHD5|WRB | |
Coordinate | chr21:39380326-39397889 | |
Strand | + | |
Gene summary | This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
GET1P1 | chr4:112693468-112693773 | - |
Intergenic |
ENSG00000248633 | UCSC |
>NM_004627.6 |
GTTGTTGTGGTCCCCATGGAGCTGCCGTAGCGGACCCAGCACAGCCAGGAGCGTCCGGGATGAGCTCAGCCGCGGCCGACCACTGGGCGTGGTTGCTGGTGCTCAGCTTCGTGTTTGGATGCAATGTTCTTAGGATCCTCCTCCCGTCCTTCTCATCCTTCATGTCCAGGGTGCTGCAGAAGGACGCGGAGCAGGAGTCACAGATGAGAGCGGAGATCCAGGACATGAAGCAGGAGCTCTCCACAGTCAACATGATGGACGAGTTTGCCAGATATGCCAGGCTGGAAAGAAAGATCAACAAGATGACGGATAAGCTCAAAACCCATGTGAAAGCTCGGACAGCTCAATTAGCCAAGATAAAATGGGTGATAAGTGTCGCTTTCTACGTATTGCAGGCTGCCCTGATGATCTCACTCATTTGGAAGTATTATTCTGTCCCTGTGGCTGTCGTGCCGAGTAAATGGATAACCCCTCTAGACCGCCTGGTAGCCTTTCCTACTAGAGTAGCAGGTGGTGTTGGAATTACCTGTTGGATTTTAGTCTGTAACAAAGTTGTCGCTATTGTGCTTCATCCGTTCAGCTGAACAGGAGGATGGATACAGCCGCGAGGCTAAAAAACGGATTTCCTCTTCCTAGCTTAAAATCTGATTTACACTGTTTTGTTTTTTAAGAAACAAAAGTGCATAGTTTAGATTTTTTTTTTGTTGAATATGTTTGTTCTTGGACTTTATGAGAGAGTCTTATAAGAATCACGATTTTCTACACCTGTCATTGAGCCAAGAAAGTCCAGTTTATGACACGTATGTACTAGTGAACACCGTCCTCGATCTGTACGAAATGTGAAATGTTTAGGGACATCTCCATGCTGTCACTTGTGATTTGCCCTCTTATGTATTTTGGTCATATTGCCAACTGGAAAGTCAAAATTTTCTAACAACTTTAAGTAAGTTCTTTGAAGACTTAGTGCTGTTTTTAATCCAGTTTAGAAAGTAACTTAATTTTAATACCACTACTAAAAATTCGAAAATTTCTTCTTTAATCACATTCAATATGGTTAAAAGAACAACACTAATTGACATTGCGTGGGCTTTTTCTCCCTTTGTTTAAAATGTCATTTGTTGAGCAAGAGTTGTATAGTATTATCTACTTACTTGAGGCTGTTAATTTTTCATTACAGTGTTTTGTAAATGTATCCACGAGACCATGATGCATTGTTTTGTGCTCAACTTGTGTTTTGTATTTAAAGCATTTTGAATGAAGTGTATTTTATAAGCATTTAATATTTATGCTCTTTAGAATGGAACACAGAAAACAAACCTTATAAGTCCTGATTAATCTGAACCAATAACCTGTGTGGCCTACAAAGTATAATTCTATTAAATGTTCCTTAAAACACTTTTTTCTAATTAAAATCTTTGCAAATGCTTGTGTAACTTCCTGCCTTACAGCTACTTGTTTGCTGTGAGCCACCCGCAACTGACAAGTGGCTGTTAACTGAGTCACCATATCCCAGTAAAGCTGAATTTTCTCACTA |