TMEM50A
Identifiers
AliasesTMEM50A, IFNRC, SMP1, transmembrane protein 50A
External IDsOMIM: 605348 MGI: 1919067 HomoloGene: 4469 GeneCards: TMEM50A
Orthologs
SpeciesHumanMouse
Entrez

23585

71817

Ensembl

ENSG00000183726

ENSMUSG00000028822

UniProt

O95807

Q9CXL1

RefSeq (mRNA)

NM_014313

NM_027935

RefSeq (protein)

NP_055128

NP_082211

Location (UCSC)Chr 1: 25.34 – 25.36 MbChr 4: 134.63 – 134.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene.[5][6][7]

This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes.[7]

Gene

The TMEM50A gene is located on chromosome 1 p36.11 in the human (homo sapiens) genome. Its mRNA sequence is 2284 base pairs in length and includes seven exons. The coding sequence is from base pairs 151 to 624.

Protein

The TMEM50A protein is 157 amino acids in length.

Cellular Location

PSORT II predicts that TMEM50A is most likely found in the cells plasma membrane or the endoplasmic reticulum.

Predicted properties

Through bioinformatic analysis several of TMEM50A's protein properties were predicted.

Structure

The exact structure of TMEM50A is unknown but through the use of several prediction programs, some of its most likely structural components can be assumed.

Splice Sites

Alternative Splice sites were found by BLAT on the UCSC genome browser

TMEM50A has several alternative splices including:

  • Removal of exon 2
  • Removal of exons 2 and 3
  • Removal of exons 2, 3, and 5
  • Removal of exon 3
  • Removal of exon 5

These alternative splice sites don't affect the reading frame of the sequence and thus may not alter the function of the protein.

Expression

TMEM50A is expressed in almost all human tissues, but evidence from EST profiles through NCBI, suggests that its expression may be slightly higher in parathyroid tissues and brain tissues. It also seems to be expressed higher during the neonate and juvenile development stages.

Interacting Proteins

There is one predicted protein that interacts with TMEM50A, C7orf43. This proteins gene is located on chromosome 7 open reading frame 43. Its function is also unknown.

Future Medical Applications

Investigation of several GEO profiles showed that TMEM50A is highly upregulated in late stage cervical cancer. This may suggest that TMEM50A has some function that may be causing or is caused directly by cervical cancer. Although few studies are available to confirm this idea, more studies may offer suggestions that use TMEM50A for treatment of late stage cervical cancer.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183726 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028822 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Flegel WA, Wagner FF (Dec 2000). "Molecular genetics of RH". Vox Sang. 78 (Suppl 2): 109–15. PMID 10938938.
  6. Wagner FF, Flegel WA (Aug 2000). "RHD gene deletion occurred in the Rhesus box". Blood. 95 (12): 3662–8. doi:10.1182/blood.V95.12.3662. PMID 10845894.
  7. 1 2 "Entrez Gene: TMEM50A transmembrane protein 50A".
  8. Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S (March 1992). "Methods and algorithms for statistical analysis of protein sequences". Proceedings of the National Academy of Sciences of the United States of America. 89 (6): 2002–6. Bibcode:1992PNAS...89.2002B. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
  9. "PI Program (Isoelectric Point Prediction)". Archived from the original on 2008-10-26.
  10. 1 2 "UniProt Database".

Further reading

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