RDH11: Difference between revisions

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{{Underlinked|date=August 2017}}
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{{Infobox_gene}}
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'''Retinol dehydrogenase 11''' is an [[enzyme]] that in humans is encoded by the ''RDH11'' [[gene]].<ref name="pmid12226107">{{cite journal |vauthors=Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K | title = Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina | journal = J Biol Chem | volume = 277 | issue = 47 | pages = 45537–46 |date=Nov 2002 | pmid = 12226107 | pmc = 1435693 | doi = 10.1074/jbc.M208882200 }}</ref><ref name="pmid8018917">{{cite journal |vauthors=Hara T, Harada N, Mitsui H, Miura T, Ishizaka T, Miyajima A | title = Characterization of cell phenotype by a novel cDNA library subtraction system: expression of CD8 alpha in a mast cell-derived interleukin-4-dependent cell line | journal = Blood | volume = 84 | issue = 1 | pages = 189–99 |date=Aug 1994 | pmid = 8018917 | pmc =  | doi = }}</ref><ref name="pmid19027726">{{cite journal |vauthors=Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U | title = The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative | journal = Chem Biol Interact | volume = 178 | issue = 1–3 | pages = 94–8 |date=Feb 2009 | pmid = 19027726 | pmc =  2896744| doi = 10.1016/j.cbi.2008.10.040 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51109| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = Retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
| HGNCid = 17964
| Symbol = RDH11
| AltSymbols =; ARSDR1; CGI-82; FLJ32633; HCBP12; MDT1; PSDR1; RALR1; SCALD
| OMIM = 607849
| ECnumber =
| Homologene = 69201
| MGIid = 102581
| GeneAtlas_image1 = PBB_GE_RDH11_217775_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_RDH11_217776_at_tn.png
| Function = {{GNF_GO|id=GO:0004745 |text = retinol dehydrogenase activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{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 = {{GNF_GO|id=GO:0008152 |text = metabolic process}} {{GNF_GO|id=GO:0042572 |text = retinol metabolic process}} {{GNF_GO|id=GO:0045494 |text = photoreceptor cell maintenance}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 51109
    | Hs_Ensembl = ENSG00000072042
    | Hs_RefseqProtein = NP_057110
    | Hs_RefseqmRNA = NM_016026
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 14
    | Hs_GenLoc_start = 67213274
    | Hs_GenLoc_end = 67232213
    | Hs_Uniprot = Q8TC12
    | Mm_EntrezGene = 17252
    | Mm_Ensembl = ENSMUSG00000066441
    | Mm_RefseqmRNA = XM_991992
    | Mm_RefseqProtein = XP_997086
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 12
    | Mm_GenLoc_start = 80093175
    | Mm_GenLoc_end = 80111133
    | Mm_Uniprot = Q9R1R5
  }}
}}
'''Retinol dehydrogenase 11 (all-trans/9-cis/11-cis)''', also known as '''RDH11''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51109| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM]<ref name="entrez">{{cite web | title = Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51109| accessdate = }}</ref>
| summary_text = RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM]<ref name="entrez" />
}}
}}
== Clinical significance ==
Mutations in RDH11 are associated to {{SWL|type=mutations_associated_to|target=retinitis pigmentosa|label=retinitis pigmentosa}}.<ref>{{Cite journal
| pmid = 24916380
| year = 2014
| author1 = Xie
| first1 = Y. A.
| title = New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11
| journal = Human Molecular Genetics
| last2 = Lee
| first2 = W
| last3 = Cai
| first3 = C
| last4 = Gambin
| first4 = T
| last5 = Nõupuu
| first5 = K
| last6 = Sujirakul
| first6 = T
| last7 = Ayuso
| first7 = C
| last8 = Jhangiani
| first8 = S
| last9 = Muzny
| first9 = D
| last10 = Boerwinkle
| first10 = E
| last11 = Gibbs
| first11 = R
| last12 = Greenstein
| first12 = V. C.
| last13 = Lupski
| first13 = J. R.
| last14 = Tsang
| first14 = S. H.
| last15 = Allikmets
| first15 = R
| doi = 10.1093/hmg/ddu291
| volume=23
| pages=5774–5780
}}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Hara T, Harada N, Mitsui H, ''et al.'' |title=Characterization of cell phenotype by a novel cDNA library subtraction system: expression of CD8 alpha in a mast cell-derived interleukin-4-dependent cell line. |journal=Blood |volume=84 |issue= 1 |pages= 189-99 |year= 1994 |pmid= 8018917 |doi=  }}
*{{cite journal  | author=Lai CH |title=Identification of Novel Human Genes Evolutionarily Conserved in Caenorhabditis elegans by Comparative Proteomics |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi=10.1101/gr.10.5.703 | pmc=310876 |name-list-format=vanc| author2=Chou CY | author3=Ch'ang LY | display-authors=3  | last4=Liu  | first4=CS  | last5=Lin  | first5=W }}
*{{cite journal | author=Lai CH, Chou CY, Ch'ang LY, ''et al.'' |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. |journal=Genome Res. |volume=10 |issue= 5 |pages= 703-13 |year= 2000 |pmid= 10810093 |doi=  }}
*{{cite journal  | author=Lin B |title=Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium |journal=Cancer Res. |volume=61 |issue= 4 |pages= 1611–8 |year= 2001 |pmid= 11245473 |doi= |name-list-format=vanc| author2=White JT  | author3=Ferguson C  | display-authors=3  | last4=Wang  | first4=S  | last5=Vessella  | first5=R  | last6=Bumgarner  | first6=R  | last7=True  | first7=LD  | last8=Hood  | first8=L  | last9=Nelson  | first9=PS }}
*{{cite journal  | author=Lin B, White JT, Ferguson C, ''et al.'' |title=Prostate short-chain dehydrogenase reductase 1 (PSDR1): a new member of the short-chain steroid dehydrogenase/reductase family highly expressed in normal and neoplastic prostate epithelium. |journal=Cancer Res. |volume=61 |issue= 4 |pages= 1611-8 |year= 2001 |pmid= 11245473 |doi=  }}
*{{cite journal  | author=Kedishvili NY |title=Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1) |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 28909–15 |year= 2002 |pmid= 12036956 |doi= 10.1074/jbc.M202588200  |name-list-format=vanc| author2=Chumakova OV  | author3=Chetyrkin SV  | display-authors=3  | last4=Belyaeva  | first4=OV  | last5=Lapshina  | first5=EA  | last6=Lin  | first6=DW  | last7=Matsumura  | first7=M  | last8=Nelson  | first8=PS }}
*{{cite journal  | author=Kedishvili NY, Chumakova OV, Chetyrkin SV, ''et al.'' |title=Evidence that the human gene for prostate short-chain dehydrogenase/reductase (PSDR1) encodes a novel retinal reductase (RalR1). |journal=J. Biol. Chem. |volume=277 |issue= 32 |pages= 28909-15 |year= 2002 |pmid= 12036956 |doi= 10.1074/jbc.M202588200 }}
*{{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=Haeseleer F, Jang GF, Imanishi Y, ''et al.'' |title=Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 45537-46 |year= 2003 |pmid= 12226107 |doi= 10.1074/jbc.M208882200 }}
*{{cite journal  | author=Li K |title=Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus |journal=World J. Gastroenterol. |volume=9 |issue= 2 |pages= 300–3 |year= 2003 |pmid= 12532453 |doi= |name-list-format=vanc| author2=Wang L  | author3=Cheng J  | display-authors=3  | last4=Lu  | first4=YY  | last5=Zhang  | first5=LX  | last6=Mu  | first6=JS  | last7=Hong  | first7=Y  | last8=Liu  | first8=Y  | last9=Duan  | first9=HJ }}
*{{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  |vauthors=Belyaeva OV, Stetsenko AV, Nelson P, Kedishvili NY |title=Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines |journal=Biochemistry |volume=42 |issue= 50 |pages= 14838–45 |year= 2004 |pmid= 14674758 |doi= 10.1021/bi035288u }}
*{{cite journal  | author=Li K, Wang L, Cheng J, ''et al.'' |title=Interaction between hepatitis C virus core protein and translin protein--a possible molecular mechanism for hepatocellular carcinoma and lymphoma caused by hepatitis C virus. |journal=World J. Gastroenterol. |volume=9 |issue= 2 |pages= 300-3 |year= 2003 |pmid= 12532453 |doi=  }}
*{{cite journal  | author=Ota T |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 |name-list-format=vanc| author2=Suzuki Y  | author3=Nishikawa T  | display-authors=3  | last4=Otsuki  | first4=Tetsuji  | last5=Sugiyama  | first5=Tomoyasu  | last6=Irie  | first6=Ryotaro  | last7=Wakamatsu  | first7=Ai  | last8=Hayashi  | first8=Koji  | last9=Sato  | first9=Hiroyuki }}
*{{cite journal  | author=Belyaeva OV, Stetsenko AV, Nelson P, Kedishvili NY |title=Properties of short-chain dehydrogenase/reductase RalR1: characterization of purified enzyme, its orientation in the microsomal membrane, and distribution in human tissues and cell lines. |journal=Biochemistry |volume=42 |issue= 50 |pages= 14838-45 |year= 2004 |pmid= 14674758 |doi= 10.1021/bi035288u }}
*{{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=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=Otsuki T |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries |journal=DNA Res. |volume=12 |issue= 2 |pages= 117–26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 |name-list-format=vanc| author2=Ota T  | author3=Nishikawa T  | display-authors=3  | last4=Hayashi  | first4=K  | last5=Suzuki  | first5=Y  | last6=Yamamoto  | first6=J  | last7=Wakamatsu  | first7=A  | last8=Kimura  | first8=K  | last9=Sakamoto  | first9=K }}
*{{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  |vauthors=Kasus-Jacobi A, Birch DG, Anderson RE |title=Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11 |journal=Adv. Exp. Med. Biol. |volume=572 |issue=  |pages= 505–11 |year= 2007 |pmid= 17249616 |doi=10.1007/0-387-32442-9_70  | series=Advances in Experimental Medicine and Biology  | isbn=978-0-387-28464-4 }}
*{{cite journal  | author=Otsuki T, Ota T, Nishikawa T, ''et al.'' |title=Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. |journal=DNA Res. |volume=12 |issue= 2 |pages= 117-26 |year= 2007 |pmid= 16303743 |doi= 10.1093/dnares/12.2.117 }}
*{{cite journal  |vauthors=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes |journal=BMC Genomics |volume=8|pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42 | pmc=1802077 }}
*{{cite journal  | author=Kasus-Jacobi A, Birch DG, Anderson RE |title=Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11. |journal=Adv. Exp. Med. Biol. |volume=572 |issue=  |pages= 505-11 |year= 2007 |pmid= 17249616 |doi=  }}
*{{cite journal  | author=Roni V, Carpio R, Wissinger B |title=Mapping of transcription start sites of human retina expressed genes. |journal=BMC Genomics |volume=8 |issue=  |pages= 42 |year= 2007 |pmid= 17286855 |doi= 10.1186/1471-2164-8-42 }}
}}
}}
{{refend}}
{{refend}}


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Revision as of 09:02, 10 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

n/a

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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

Retinol dehydrogenase 11 is an enzyme that in humans is encoded by the RDH11 gene.[1][2][3][4]

RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM][4]

Clinical significance

Mutations in RDH11 are associated to retinitis pigmentosa .[5]

References

  1. ↑ Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (Nov 2002). "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". J Biol Chem. 277 (47): 45537–46. doi:10.1074/jbc.M208882200. PMC 1435693. PMID 12226107.
  2. ↑ Hara T, Harada N, Mitsui H, Miura T, Ishizaka T, Miyajima A (Aug 1994). "Characterization of cell phenotype by a novel cDNA library subtraction system: expression of CD8 alpha in a mast cell-derived interleukin-4-dependent cell line". Blood. 84 (1): 189–99. PMID 8018917.
  3. ↑ Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
  4. ↑ 4.0 4.1 "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
  5. ↑ Xie, Y. A.; Lee, W; Cai, C; Gambin, T; Nõupuu, K; Sujirakul, T; Ayuso, C; Jhangiani, S; Muzny, D; Boerwinkle, E; Gibbs, R; Greenstein, V. C.; Lupski, J. R.; Tsang, S. H.; Allikmets, R (2014). "New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11". Human Molecular Genetics. 23: 5774–5780. doi:10.1093/hmg/ddu291. PMID 24916380.

Further reading



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