FAM46A: Difference between revisions

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{{Infobox_gene}}
'''Protein FAM46A''' is a [[protein]] that in humans is encoded by the ''FAM46A'' [[gene]]. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.<ref>{{cite web|title=Fam46A (Protein Coding)|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM46A|website=GeneCards|publisher=GeneCards|accessdate=18 February 2015}}</ref> The gene contains 6 [[introns]], and is 6982 base pairs long.<ref>{{cite web|title=NCBI Gene|url=https://www.ncbi.nlm.nih.gov/gene/55603|website=NCBI|publisher=National Center for Biotechnology Information}}</ref> The transcribed [[mRNA]] is 2231 [[base pairs]] long and contains  2 [[exons]], 589 and 1128 base pairs, with 4 alternative splice isoforms.<ref>{{cite web|title=FAM46A Ace View|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=FAM46A|website=AceView|publisher=NCBI|accessdate=3 March 2015}}</ref>


== Expression ==
Expression of Fam46A is found to be exceptionally high in [[Placental]] tissue, [[Pineal Gland]], and [[Pituitary Gland]] with low to moderate expression within [[Bone Marrow]], [[Uterus]], and [[Salivary glands]].<ref>{{cite web|title=Fam46A Tissue Expression|url=http://www.proteinatlas.org/tissue|website=Protein Atlas|accessdate=13 March 2015}}</ref>
[[File:Fam46A Tissue Expression.png|thumbnail]]


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== Protein ==
{{PBB_Controls
The human FAM46A protein is 461 [[Amino Acids]] long.<ref>{{cite web|title=FAM46A Ace View|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=FAM46A|website=AceView|publisher=NCBI|accessdate=3 March 2015}}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
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== Function ==
{{GNF_Protein_box
The function of Fam46A is currently unknown but there is a [[Variable Number Tandem Repeat]] in the first exon of Fam46A that has been explored within various populations and have been attempted to be linked to various [[retinal diseases]] as well as [[colon cancer]].<ref>{{cite journal | vauthors = Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G | title = Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs | journal = Annals of Human Genetics | volume = 72 | issue = Pt 1 | pages = 26–34 | date = January 2008 | pmid = 17803723 | doi = 10.1111/j.1469-1809.2007.00393.x }}</ref><ref>{{cite journal | vauthors = Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD | title = [VNTR polymorphism of C6orf37 in Chinese population] | journal = Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences | volume = 35 | issue = 4 | pages = 354–9 | date = July 2006 | pmid = 16924696 }}</ref>
| image =
| image_source =
| PDB =
| Name = Family with sequence similarity 46, member A
| HGNCid = 18345
| Symbol = FAM46A
| AltSymbols =; C6orf37; FLJ20037; FLJ31495; XTP11
| OMIM =
| ECnumber =
| Homologene = 23032
| MGIid = 2670964
| GeneAtlas_image1 = PBB_GE_FAM46A_221766_s_at_tn.png
| Function =
| Component =
| Process =
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 55603
    | Hs_Ensembl = ENSG00000112773
    | Hs_RefseqProtein = NP_060103
    | Hs_RefseqmRNA = NM_017633
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 82512166
    | Hs_GenLoc_end = 82519210
    | Hs_Uniprot = Q96IP4
    | Mm_EntrezGene = 212943
    | Mm_Ensembl = ENSMUSG00000032265
    | Mm_RefseqmRNA = XM_135029
    | Mm_RefseqProtein = XP_135029
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 85121175
    | Mm_GenLoc_end = 85123486
    | Mm_Uniprot = 
  }}
}}
'''Family with sequence similarity 46, member A''', also known as '''FAM46A''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: FAM46A family with sequence similarity 46, member A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55603| accessdate = }}</ref>


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== References ==
{{PBB_Summary
{{reflist}}
| section_title =
| summary_text =
}}


==References==
== Further reading ==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM | title = Functional proteomics mapping of a human signaling pathway | journal = Genome Research | volume = 14 | issue = 7 | pages = 1324–32 | date = July 2004 | pmid = 15231748 | pmc = 442148 | doi = 10.1101/gr.2334104 }}
| citations =
* {{cite journal | vauthors = Cui J, Wang W, Lai MD, Xu EP, Lv BJ, Lin J, Ruan WJ, Ma Y, Yao C | title = Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population | journal = Clinica Chimica Acta; International Journal of Clinical Chemistry | volume = 368 | issue = 1-2 | pages = 155–9 | date = June 2006 | pmid = 16545789 | doi = 10.1016/j.cca.2005.12.043 }}
*{{cite journal | author=Lagali PS, Kakuk LE, Griesinger IB, ''et al.'' |title=Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. |journal=Biochem. Biophys. Res. Commun. |volume=293 |issue= 1 |pages= 356-65 |year= 2002 |pmid= 12054608 |doi= 10.1016/S0006-291X(02)00228-0 }}
* {{cite journal|authorlink13=Huda Zoghbi | vauthors = Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY | title = A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | journal = Cell | volume = 125 | issue = 4 | pages = 801–14 | date = May 2006 | pmid = 16713569 | doi = 10.1016/j.cell.2006.03.032 }}
*{{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=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal  | author=Colland F, Jacq X, Trouplin V, ''et al.'' |title=Functional proteomics mapping of a human signaling pathway. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1324-32 |year= 2004 |pmid= 15231748 |doi= 10.1101/gr.2334104 }}
*{{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=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  | author=Cui J, Wang W, Lai MD, ''et al.'' |title=Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population. |journal=Clin. Chim. Acta |volume=368 |issue= 1-2 |pages= 155-9 |year= 2006 |pmid= 16545789 |doi= 10.1016/j.cca.2005.12.043 }}
*{{cite journal | author=Lim J, Hao T, Shaw C, ''et al.'' |title=A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. |journal=Cell |volume=125 |issue= 4 |pages= 801-14 |year= 2006 |pmid= 16713569 |doi= 10.1016/j.cell.2006.03.032 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 06:21, 23 March 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

Protein FAM46A is a protein that in humans is encoded by the FAM46A gene. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.[1] The gene contains 6 introns, and is 6982 base pairs long.[2] The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.[3]

Expression

Expression of Fam46A is found to be exceptionally high in Placental tissue, Pineal Gland, and Pituitary Gland with low to moderate expression within Bone Marrow, Uterus, and Salivary glands.[4]

File:Fam46A Tissue Expression.png

Protein

The human FAM46A protein is 461 Amino Acids long.[5]

Function

The function of Fam46A is currently unknown but there is a Variable Number Tandem Repeat in the first exon of Fam46A that has been explored within various populations and have been attempted to be linked to various retinal diseases as well as colon cancer.[6][7]

References

  1. ↑ "Fam46A (Protein Coding)". GeneCards. GeneCards. Retrieved 18 February 2015.
  2. ↑ "NCBI Gene". NCBI. National Center for Biotechnology Information.
  3. ↑ "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
  4. ↑ "Fam46A Tissue Expression". Protein Atlas. Retrieved 13 March 2015.
  5. ↑ "FAM46A Ace View". AceView. NCBI. Retrieved 3 March 2015.
  6. ↑ Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G (January 2008). "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs". Annals of Human Genetics. 72 (Pt 1): 26–34. doi:10.1111/j.1469-1809.2007.00393.x. PMID 17803723.
  7. ↑ Cui J, Wang W, Wang M, Lin J, Ma Y, Ruan WJ, Xu J, Lai MD (July 2006). "[VNTR polymorphism of C6orf37 in Chinese population]". Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences. 35 (4): 354–9. PMID 16924696.

Further reading

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