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{{Infobox_gene}}
{{PBB_Controls
'''Transmembrane protein 50A''' is a [[protein]] that in humans is encoded by the ''TMEM50A'' [[gene]].<ref name="pmid10938938">{{cite journal |vauthors=Flegel WA, Wagner FF | title = Molecular genetics of RH | journal = Vox Sang | volume = 78 Suppl 2 | issue =  | pages = 109–15 |date=Dec 2000 | pmid = 10938938 | pmc =  | doi =  }}</ref><ref name="pmid10845894">{{cite journal |vauthors=Wagner FF, Flegel WA | title = RHD gene deletion occurred in the Rhesus box | journal = Blood | volume = 95 | issue = 12 | pages = 3662–8 |date=Aug 2000 | pmid = 10845894 | pmc =  | doi =  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TMEM50A transmembrane protein 50A| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23585| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Transmembrane protein 50A
| HGNCid = 30590
  | Symbol = TMEM50A
| AltSymbols =; IFNRC; RP11-335G20.3; SMP1
| OMIM = 605348
| ECnumber = 
| Homologene = 4469
| MGIid = 1919067
| GeneAtlas_image1 = PBB_GE_TMEM50A_217766_s_at_tn.png
  | Function =  
  | Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process =  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23585
    | Hs_Ensembl = ENSG00000183726
    | Hs_RefseqProtein = NP_055128
    | Hs_RefseqmRNA = NM_014313
    | Hs_GenLoc_db =   
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 25536995
    | Hs_GenLoc_end = 25561439
    | Hs_Uniprot = O95807
    | Mm_EntrezGene = 71817
    | Mm_Ensembl = ENSMUSG00000028822
    | Mm_RefseqmRNA = NM_027935
    | Mm_RefseqProtein = NP_082211
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 4
    | Mm_GenLoc_start = 134169925
    | Mm_GenLoc_end = 134186992
    | Mm_Uniprot = Q52KP1
  }}
}}
'''Transmembrane protein 50A''', also known as '''TMEM50A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TMEM50A transmembrane protein 50A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23585| accessdate = }}</ref>


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<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TMEM50A transmembrane protein 50A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23585| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez" />
}}
}}
== 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 ===
[https://web.archive.org/web/20090329084822/http://psort.ims.u-tokyo.ac.jp/form2.html 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.
* Molecular Weight: 17.4 KDal<ref name="SAPS">{{cite journal |vauthors=Brendel V, Bucher P, Nourbakhsh IR, Blaisdell BE, Karlin S | title = Methods and algorithms for statistical analysis of protein sequences | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 89 | issue = 6 | pages = 2002–6 |date=March 1992 | pmid = 1549558 | pmc = 48584 | doi = 10.1073/pnas.89.6.2002| url =  }}</ref>
* [[Isoelectric point]]: 5.483<ref name=PI>{{cite web |title= PI Program (Isoelectric Point Prediction) |url= http://www.embl-heidelberg.de/cgi/pi-wrapper.pl |deadurl= yes |archiveurl= https://web.archive.org/web/20081026062821/http://www.embl-heidelberg.de/cgi/pi-wrapper.pl |archivedate= 2008-10-26 |df=  }}</ref>
* [[Posttranslational modification|Post-translational modification]]: Several post-translational modifications are predicted:
** Two serine phosphorylation sites found at amino acids 82 and 84 Residue<ref name=Uniprot>{{cite web |title=UniProt Database |url=https://www.uniprot.org/uniprot/Q8IW45}}</ref>
** One possible[[Glycosylation#N-linked glycosylation|N-Linked Glycosylation]] Site located at amino acid 74 <ref name=Uniprot/>
** One possible Tyrosine phosphorylation site
=== 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.
*[http://www.cbs.dtu.dk/services/TMHMM/ TMHMM] shows that TMEM50A has four transmembrane regions. This was further confirmed by similar results found in TMEM50A orthologs and the neutral charge found in these regions using [http://workbench.sdsc.edu/ SAPS program in Biology Workbench]
*By using the [http://workbench.sdsc.edu/ PELE program in Biology Workbench] along with comparing the results of known protein structures, it can be predicted that TMEM50A has:
**Two [[Alpha Helix]] structures
**Five [[Beta Sheets]]
=== Splice Sites ===
Alternative Splice sites were found by BLAT on the [http://genome.ucsc.edu/cgi-bin/hgBlat?command=start 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 [https://www.ncbi.nlm.nih.gov/UniGene/ESTProfileViewer.cgi?uglist=Hs.523054 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, [https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=retrieve&dopt=full_report&list_uids=55262&log$=databasead&logdbfrom=protein C7orf43]. This proteins gene is located on chromosome 7 open reading frame 43. Its function is also unknown.
==Future Medical Applications==
Investigation of several [https://www.ncbi.nlm.nih.gov/geo/gds/profileGraph.cgi?&dataset=K..CAFEEDHCE.EABEIC.B..z...CCCKG&dataset=5..IBXQNN1GM.OCGQXI.D..q...IIJ3U$&gmin=0.007700&gmax=2.306900&absc=&gds=470&idref=283&annot=TMEM50A 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==
==References==
{{reflist|2}}
 
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
 
| citations =  
{{PBB_Further_reading
*{{cite journal  | author=Flegel WA, Wagner FF |title=Molecular genetics of RH. |journal=Vox Sang. |volume=78 Suppl 2 |issue=  |pages= 109-15 |year= 2000 |pmid= 10938938 |doi=  }}
 
*{{cite journal | author=Mehrle A, Rosenfelder H, Schupp I, ''et al.'' |title=The LIFEdb database in 2006. |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415-8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 }}
| citations =
*{{cite journal | author=Tao WA, Wollscheid B, O'Brien R, ''et al.'' |title=Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. |journal=Nat. Methods |volume=2 |issue= 8 |pages= 591-8 |year= 2005 |pmid= 16094384 |doi= 10.1038/nmeth776 }}
 
*{{cite journal | author=Wiemann S, Arlt D, Huber W, ''et al.'' |title=From ORFeome to biology: a functional genomics pipeline. |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136-44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 }}
*{{cite journal | author=Mehrle A |title=The LIFEdb database in 2006 |journal=Nucleic Acids Res. |volume=34 |issue= Database issue |pages= D415–8 |year= 2006 |pmid= 16381901 |doi= 10.1093/nar/gkj139 | pmc=1347501 |name-list-format=vanc| author2=Rosenfelder H | author3=Schupp I | display-authors=3 | last4=Del Val | first4=C | last5=Arlt | first5=D | last6=Hahne | first6=F | last7=Bechtel | first7=S | last8=Simpson | first8=J | last9=Hofmann | first9=O }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal | author=Tao WA |title=Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry |journal=Nat. Methods |volume=2 |issue= 8 |pages= 591–8 |year= 2005 |pmid= 16094384 |doi= 10.1038/nmeth776 |name-list-format=vanc| author2=Wollscheid B | author3=O'Brien R | display-authors=3 | last4=Eng | first4=Jimmy K | last5=Li | first5=Xiao-jun | last6=Bodenmiller | first6=Bernd | last7=Watts | first7=Julian D | last8=Hood | first8=Leroy | last9=Aebersold | first9=Ruedi }}
*{{cite journal | author=Clark HF, Gurney AL, Abaya E, ''et al.'' |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265-70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 }}
*{{cite journal | author=Wiemann S |title=From ORFeome to Biology: A Functional Genomics Pipeline |journal=Genome Res. |volume=14 |issue= 10B |pages= 2136–44 |year= 2004 |pmid= 15489336 |doi= 10.1101/gr.2576704 | pmc=528930 |name-list-format=vanc| author2=Arlt D | author3=Huber W | display-authors=3 | last4=Wellenreuther | first4=R | last5=Schleeger | first5=S | last6=Mehrle | first6=A | last7=Bechtel | first7=S | last8=Sauermann | first8=M | last9=Korf | first9=U }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |name-list-format=vanc| author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
*{{cite journal | author=Wagner FF, Flegel WA |title=RHCE represents the ancestral RH position, while RHD is the duplicated gene. |journal=Blood |volume=99 |issue= 6 |pages= 2272-3 |year= 2002 |pmid= 11902138 |doi= }}
*{{cite journal | author=Clark HF |title=The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |name-list-format=vanc| author2=Gurney AL | author3=Abaya E | display-authors=3 | last4=Baker | first4=K | last5=Baldwin | first5=D | last6=Brush | first6=J | last7=Chen | first7=J | last8=Chow | first8=B | last9=Chui | first9=C }}
*{{cite journal | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287-92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 }}
*{{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}
*{{cite journal | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422-35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701 }}
*{{cite journal |vauthors=Wagner FF, Flegel WA |title=RHCE represents the ancestral RH position, while RHD is the duplicated gene |journal=Blood |volume=99 |issue= 6 |pages= 2272–3 |year= 2002 |pmid= 11902138 |doi=10.1182/blood-2001-12-0153 }}
*{{cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi= }}
*{{cite journal | author=Simpson JC |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 |name-list-format=vanc| author2=Wellenreuther R | author3=Poustka A | display-authors=3 | last4=Pepperkok | first4=R | last5=Wiemann | first5=S }}
*{{cite journal  | author=Wagner FF, Flegel WA |title=RHD gene deletion occurred in the Rhesus box. |journal=Blood |volume=95 |issue= 12 |pages= 3662-8 |year= 2000 |pmid= 10845894 |doi=  }}
*{{cite journal | author=Wiemann S |title=Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 |name-list-format=vanc| author2=Weil B | author3=Wellenreuther R | display-authors=3 | last4=Gassenhuber | first4=J | last5=Glassl | first5=S | last6=Ansorge | first6=W | last7=Böcher | first7=M | last8=Blöcker | first8=H | last9=Bauersachs | first9=S }}
*{{cite journal |vauthors=Hartley JL, Temple GF, Brasch MA |title=DNA Cloning Using In Vitro Site-Specific Recombination |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788–95 |year= 2001 |pmid= 11076863 |doi=10.1101/gr.143000 | pmc=310948 }}
 
}}
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Latest revision as of 13:57, 18 November 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene.[1][2][3]

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.[3]

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. ↑ Flegel WA, Wagner FF (Dec 2000). "Molecular genetics of RH". Vox Sang. 78 Suppl 2: 109–15. PMID 10938938.
  2. ↑ Wagner FF, Flegel WA (Aug 2000). "RHD gene deletion occurred in the Rhesus box". Blood. 95 (12): 3662–8. PMID 10845894.
  3. ↑ 3.0 3.1 "Entrez Gene: TMEM50A transmembrane protein 50A".
  4. ↑ 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. doi:10.1073/pnas.89.6.2002. PMC 48584. PMID 1549558.
  5. ↑ "PI Program (Isoelectric Point Prediction)". Archived from the original on 2008-10-26.
  6. ↑ 6.0 6.1 "UniProt Database".

Further reading

Retrieved from "https://www.wikidoc.org/index.php?title=TMEM50A&oldid=1530703"