Entry - *602915 - GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 1; GET1 - OMIM

 
 
* 602915

GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 1; GET1


Alternative titles; symbols

TRYPTOPHAN-RICH BASIC PROTEIN; WRB
CONGENITAL HEART DISEASE 5 GENE, FORMERLY; CHD5, FORMERLY


HGNC Approved Gene Symbol: GET1

Cytogenetic location: 21q22.2   Genomic coordinates (GRCh38) : 21:39,380,326-39,428,528 (from NCBI)


TEXT

▼ Cloning and Expression

Egeo et al. (1998) used direct cDNA selection to identify over 300 fetal heart and cultured cardiac fibroblast cDNAs from chromosome 21q22.2-q22.3 to screen for genes that may contribute to congenital heart defects in Down syndrome (190685) patients. One clone, designated WRB, encoded a predicted 174-amino acid protein with a pI of 10.5. The WRB protein has a tryptophan-rich C-terminal region and a potential nuclear localization signal. By immunofluorescence, Egeo et al. (1998) localized WRB to the cell nucleus. Northern blot analysis of human adult and fetal tissues showed wide expression of WRB as 1.4- and 1.6-kb mRNAs.


▼ Mapping

By analysis of genomic clones and somatic cell hybrids, Egeo et al. (1998) mapped the WRB gene to chromosome 21q22.3, near HMG14 (HMGN1; 163920).


▼ REFERENCES

  1. Egeo, A., Mazzocco, M., Sotgia, F., Arrigo, P., Oliva, R., Bergonon, S., Nizetic, D., Rasore-Quartino, A., Scartezzini, P. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein. Hum. Genet. 102: 289-293, 1998. [PubMed: 9544840, related citations] [Full Text]


Creation Date:
Rebekah S. Rasooly : 8/2/1998
Edit History:
carol : 01/08/2021
wwang : 09/27/2010
carol : 11/9/2000
alopez : 8/2/1998

* 602915

GUIDED ENTRY OF TAIL-ANCHORED PROTEINS FACTOR 1; GET1


Alternative titles; symbols

TRYPTOPHAN-RICH BASIC PROTEIN; WRB
CONGENITAL HEART DISEASE 5 GENE, FORMERLY; CHD5, FORMERLY


HGNC Approved Gene Symbol: GET1

Cytogenetic location: 21q22.2   Genomic coordinates (GRCh38) : 21:39,380,326-39,428,528 (from NCBI)


TEXT

Cloning and Expression

Egeo et al. (1998) used direct cDNA selection to identify over 300 fetal heart and cultured cardiac fibroblast cDNAs from chromosome 21q22.2-q22.3 to screen for genes that may contribute to congenital heart defects in Down syndrome (190685) patients. One clone, designated WRB, encoded a predicted 174-amino acid protein with a pI of 10.5. The WRB protein has a tryptophan-rich C-terminal region and a potential nuclear localization signal. By immunofluorescence, Egeo et al. (1998) localized WRB to the cell nucleus. Northern blot analysis of human adult and fetal tissues showed wide expression of WRB as 1.4- and 1.6-kb mRNAs.


Mapping

By analysis of genomic clones and somatic cell hybrids, Egeo et al. (1998) mapped the WRB gene to chromosome 21q22.3, near HMG14 (HMGN1; 163920).


REFERENCES

  1. Egeo, A., Mazzocco, M., Sotgia, F., Arrigo, P., Oliva, R., Bergonon, S., Nizetic, D., Rasore-Quartino, A., Scartezzini, P. Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein. Hum. Genet. 102: 289-293, 1998. [PubMed: 9544840] [Full Text: https://doi.org/10.1007/s004390050693]


Creation Date:
Rebekah S. Rasooly : 8/2/1998

Edit History:
carol : 01/08/2021
wwang : 09/27/2010
carol : 11/9/2000
alopez : 8/2/1998



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: Nov. 16, 2024