Entry - *605348 - TRANSMEMBRANE PROTEIN 50A; TMEM50A - OMIM

 
 
* 605348

TRANSMEMBRANE PROTEIN 50A; TMEM50A


Alternative titles; symbols

SMALL MEMBRANE PROTEIN 1; SMP1


HGNC Approved Gene Symbol: TMEM50A

Cytogenetic location: 1p36.11     Genomic coordinates (GRCh38): 1:25,338,334-25,362,361 (from NCBI)


TEXT

▼ Cloning and Expression

Wagner and Flegel (2000) found that the RH cluster on chromosome 1p contains 3 genes: RHD (111680), RHCE (111700), and SMP1. They noted that the nucleotide sequence of SMP1 had been deposited in GenBank (AF091282) as encoding a putative 157-amino acid member of an 18-kD small membrane protein family and that the gene shows homology to an open reading frame on chromosome 21 (Reboul et al., 1999). The position of the gene between both RH genes implies that any polymorphism of the SMP1 gene would be tightly linked to a specific RH haplotype. The authors suggested that functionally relevant mutations of the SMP1 gene may cause selection pressure for or against specific RH haplotypes. Such factors might explain some previously unresolved issues of RH haplotype distribution, such as the high frequency of RH-negativity in the European population.


▼ REFERENCES

  1. Reboul, J., Gardiner, K., Monneron, D., Uze, G., Lutfalla, G. Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. Genome Res. 9: 242-250, 1999. [PubMed: 10077530, images, related citations]

  2. Wagner, F. F., Flegel, W. A. RHD gene deletion occurred in the Rhesus box. Blood 95: 3662-3668, 2000. [PubMed: 10845894, related citations]


Creation Date:
Victor A. McKusick : 10/18/2000
Edit History:
alopez : 05/16/2014
terry : 1/18/2001
carol : 10/18/2000

* 605348

TRANSMEMBRANE PROTEIN 50A; TMEM50A


Alternative titles; symbols

SMALL MEMBRANE PROTEIN 1; SMP1


HGNC Approved Gene Symbol: TMEM50A

Cytogenetic location: 1p36.11     Genomic coordinates (GRCh38): 1:25,338,334-25,362,361 (from NCBI)


TEXT

Cloning and Expression

Wagner and Flegel (2000) found that the RH cluster on chromosome 1p contains 3 genes: RHD (111680), RHCE (111700), and SMP1. They noted that the nucleotide sequence of SMP1 had been deposited in GenBank (AF091282) as encoding a putative 157-amino acid member of an 18-kD small membrane protein family and that the gene shows homology to an open reading frame on chromosome 21 (Reboul et al., 1999). The position of the gene between both RH genes implies that any polymorphism of the SMP1 gene would be tightly linked to a specific RH haplotype. The authors suggested that functionally relevant mutations of the SMP1 gene may cause selection pressure for or against specific RH haplotypes. Such factors might explain some previously unresolved issues of RH haplotype distribution, such as the high frequency of RH-negativity in the European population.


REFERENCES

  1. Reboul, J., Gardiner, K., Monneron, D., Uze, G., Lutfalla, G. Comparative genomic analysis of the interferon/interleukin-10 receptor gene cluster. Genome Res. 9: 242-250, 1999. [PubMed: 10077530]

  2. Wagner, F. F., Flegel, W. A. RHD gene deletion occurred in the Rhesus box. Blood 95: 3662-3668, 2000. [PubMed: 10845894]


Creation Date:
Victor A. McKusick : 10/18/2000

Edit History:
alopez : 05/16/2014
terry : 1/18/2001
carol : 10/18/2000



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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: April 25, 2024