11-cis retinol dehydrogenase

<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functionⁱ

<p>Describes the catalytic activity of an enzyme, i.e. the chemical reaction it catalyzes. This information usually correlates with the presence of an EC (Enzyme Commission) number in the ‘Names and taxonomy’ section.</p><p><a href='../manual/catalytic_activity' target='_top'>More...</a></p>Catalytic activityⁱ

<p>Describes an enzyme regulatory mechanism and reports the components which regulate (by activation or inhibition) the reaction.</p><p><a href='../manual/enzyme_regulation' target='_top'>More...</a></p>Enzyme regulationⁱ

<p>Describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.</p><p><a href='../manual/biophysicochemical_properties' target='_top'>More...</a></p>pH dependenceⁱ

Sites

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.</p><p><a href='../manual/binding' target='_top'>More...</a></p>Binding sitei	163 – 163	1	SubstrateBy similarity
<p>Is used for enzymes and indicates the residues directly involved in catalysis.</p><p><a href='../manual/act_site' target='_top'>More...</a></p>Active sitei	175 – 175	1	Proton acceptorBy similarity

Regions

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.</p><p><a href='../manual/np_bind' target='_top'>More...</a></p>Nucleotide bindingi	32 – 56	25	NADPBy similarity			Add BLAST

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• retinol dehydrogenase activity Source: Reactome

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• response to stimulus Source: UniProtKB-KW
• retinoid metabolic process Source: Reactome
• retinol metabolic process Source: UniProtKB-UniPathway
• visual perception Source: ProtInc

  <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ

  • 10369264

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Molecular functionⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Biological processⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Ligandⁱ

Enzyme and pathway databases

Chemistry

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componentⁱ

• cell body Source: Ensembl
• endoplasmic reticulum lumen Source: UniProtKB-SubCell
• endoplasmic reticulum membrane Source: Reactome

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componentⁱ

<p>Provides information on the disease(s) and phenotype(s) associated with a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>Provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim"><span class="caps">OMIM</span></a> database are represented with a <a href="/diseases">controlled vocabulary</a> in the following way:</p><p><a href='../manual/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

Fundus albipunctatus (FALBI)8 Publications

<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment inⁱ

• Ref.7

  "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus."
  Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C.
  Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294.
• Ref.8

  "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus."
  Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P.
  Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33.
• Ref.9

  "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus."
  Kuroiwa S., Kikuchi T., Yoshimura N.
  Am. J. Ophthalmol. 130:672-675(2000) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS FALBI GLY-177 AND HIS-280.
• Ref.10

  "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene."
  Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y.
  Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS.
• Ref.11

  "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus."
  Driessen C.A., Janssen B.P., Winkens H.J., Kuhlmann L.D., Van Vugt A.H., Pinckers A.J., Deutman A.F., Janssen J.J.
  Ophthalmology 108:1479-1484(2001) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT FALBI TRP-267.
• Ref.12

  "Macular dystrophy in a Japanese family with fundus albipunctatus."
  Hotta K., Nakamura M., Kondo M., Ito S., Terasaki H., Miyake Y., Hida T.
  Am. J. Ophthalmol. 135:917-919(2003) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT FALBI ARG-107.
• Ref.13

  "A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots."
  Yamamoto H., Yakushijin K., Kusuhara S., Escano M.F., Nagai A., Negi A.
  Am. J. Ophthalmol. 136:572-574(2003) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT FALBI PHE-164.
• Ref.14

  "Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)."
  Skorczyk-Werner A., Pawlowski P., Michalczuk M., Warowicka A., Wawrocka A., Wicher K., Bakunowicz-Lazarczyk A., Krawczynski M.R.
  J. Appl. Genet. 56:317-327(2015) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT FALBI PHE-175.

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of fleck retina disease characterized by discrete uniform white dots over the entire fundus with greatest density in the mid-periphery and no macular involvement. Night blindness occurs. Inheritance can be autosomal dominant or autosomal recessive.

See also OMIM:136880

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	35 – 35	1	G → S in FALBI; decreased stability. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs759359491 [ dbSNP | Ensembl ].		VAR_016814
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	73 – 73	1	S → F in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.8 "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus." Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33. Corresponds to variant rs62638185 [ dbSNP | Ensembl ].		VAR_009273
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	105 – 105	1	L → I in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS.		VAR_068716
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	107 – 107	1	G → R in FALBI; associated with macular dystrophy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Ref.12 "Macular dystrophy in a Japanese family with fundus albipunctatus." Hotta K., Nakamura M., Kondo M., Ito S., Terasaki H., Miyake Y., Hida T. Am. J. Ophthalmol. 135:917-919(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI ARG-107.		VAR_016815
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	128 – 128	1	D → N in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs377029071 [ dbSNP | Ensembl ].		VAR_068717
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	132 – 132	1	V → M in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638187 [ dbSNP | Ensembl ].		VAR_016816
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	157 – 157	1	R → W in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs104894374 [ dbSNP | Ensembl ].		VAR_068718
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	164 – 164	1	V → F in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.13 "A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots." Yamamoto H., Yakushijin K., Kusuhara S., Escano M.F., Nagai A., Negi A. Am. J. Ophthalmol. 136:572-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI PHE-164.		VAR_016817
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	175 – 175	1	Y → F in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)." Skorczyk-Werner A., Pawlowski P., Michalczuk M., Warowicka A., Wawrocka A., Wicher K., Bakunowicz-Lazarczyk A., Krawczynski M.R. J. Appl. Genet. 56:317-327(2015) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI PHE-175. Corresponds to variant rs758411232 [ dbSNP | Ensembl ].		VAR_075309
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	177 – 177	1	V → G in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus." Kuroiwa S., Kikuchi T., Yoshimura N. Am. J. Ophthalmol. 130:672-675(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI GLY-177 AND HIS-280. Corresponds to variant rs104894373 [ dbSNP | Ensembl ].		VAR_016818
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	238 – 238	1	G → W in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Ref.8 "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus." Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33. Corresponds to variant rs62638191 [ dbSNP | Ensembl ].		VAR_009274
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	264 – 264	1	V → G in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS.		VAR_068719
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	267 – 267	1	C → W in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus." Driessen C.A., Janssen B.P., Winkens H.J., Kuhlmann L.D., Van Vugt A.H., Pinckers A.J., Deutman A.F., Janssen J.J. Ophthalmology 108:1479-1484(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI TRP-267.		VAR_016819
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	280 – 280	1	R → H in FALBI; decreased stability; loss of enzymatic activity. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Ref.9 "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus." Kuroiwa S., Kikuchi T., Yoshimura N. Am. J. Ophthalmol. 130:672-675(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI GLY-177 AND HIS-280. Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638193 [ dbSNP | Ensembl ].		VAR_016820
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	281 – 281	1	Y → H in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638194 [ dbSNP | Ensembl ].		VAR_016821
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	294 – 294	1	A → P in FALBI; associated with H-280; no effect on enzymatic activity; accumulates in the perinuclear region. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Corresponds to variant rs111033593 [ dbSNP | Ensembl ].		VAR_016822
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	310 – 310	1	L → EV in FALBI; loss of enzymatic activity; accumulates in the perinuclear region.		VAR_016823

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseaseⁱ

Organism-specific databases

Chemistry

Polymorphism and mutation databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Denotes the presence of an N-terminal signal peptide.</p><p><a href='../manual/signal' target='_top'>More...</a></p>Signal peptidei	1 – 23	23	Sequence analysis			Add BLAST
<p>Describes the extent of a polypeptide chain in the mature protein following processing.</p><p><a href='../manual/chain' target='_top'>More...</a></p>Chaini	24 – 318	295	11-cis retinol dehydrogenase		PRO_0000054758	Add BLAST

Amino acid modifications

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).</p><p><a href='../manual/carbohyd' target='_top'>More...</a></p>Glycosylationi	160 – 160	1	N-linked (GlcNAc...)Sequence analysis

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’.<br />Examples: <a href="/uniprot/P92958#expression"><span class="caps">P92958</span></a>, <a href="/uniprot/Q8TDN4#expression"><span class="caps">Q8TDN4</span></a>, <a href="/uniprot/O14734#expression"><span class="caps">O14734</span></a></p><p><a href='../manual/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>Provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="/help/function_section">‘Function’</a> section).</p><p><a href='../manual/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

<p>Provides information on the tertiary and secondary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.</p><p><a href='../manual/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>Indicates if the <a href="/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.</p><p><a href='../manual/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

        10         20         30         40         50
MWLPLLLGAL LWAVLWLLRD RQSLPASNAF VFITGCDSGF GRLLALQLDQ 
        60         70         80         90        100
RGFRVLASCL TPSGAEDLQR VASSRLHTTL LDITDPQSVQ QAAKWVEMHV 
       110        120        130        140        150
KEAGLFGLVN NAGVAGIIGP TPWLTRDDFQ RVLNVNTMGP IGVTLALLPL 
       160        170        180        190        200
LQQARGRVIN ITSVLGRLAA NGGGYCVSKF GLEAFSDSLR RDVAHFGIRV 
       210        220        230        240        250
SIVEPGFFRT PVTNLESLEK TLQACWARLP PATQAHYGGA FLTKYLKMQQ 
       260        270        280        290        300
RIMNLICDPD LTKVSRCLEH ALTARHPRTR YSPGWDAKLL WLPASYLPAS 
       310 
LVDAVLTWVL PKPAQAVY                                  

Experimental Info

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	30 – 30	1	F → L in AAH28298 (PubMed:15489334).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	51 – 52	2	RG → KS in AAB93668 (PubMed:9115228).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	75 – 77	3	RLH → GFN in AAB93668 (PubMed:9115228).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	89 – 89	1	V → F in AAB93668 (PubMed:9115228).Curated
<p>Reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.</p><p><a href='../manual/conflict' target='_top'>More...</a></p>Sequence conflicti	200 – 200	1	V → E in AAB93668 (PubMed:9115228).Curated

Natural variant

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	21 – 21	1	R → Q. Corresponds to variant rs3138143 [ dbSNP | Ensembl ].		VAR_052321
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	33 – 33	1	I → V.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.8 "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus." Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33. Corresponds to variant rs62638195 [ dbSNP | Ensembl ].		VAR_009272
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	35 – 35	1	G → S in FALBI; decreased stability. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs759359491 [ dbSNP | Ensembl ].		VAR_016814
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	70 – 70	1	R → G.1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.2 "Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation." Mertz J.R., Shang E., Piantedosi R., Wei S., Wolgemuth D.J., Blaner W.S. J. Biol. Chem. 272:11744-11749(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY, PATHWAY, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY, VARIANT GLY-70. Corresponds to variant rs1058635 [ dbSNP | Ensembl ].		VAR_052322
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	73 – 73	1	S → F in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.8 "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus." Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33. Corresponds to variant rs62638185 [ dbSNP | Ensembl ].		VAR_009273
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	105 – 105	1	L → I in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS.		VAR_068716
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	107 – 107	1	G → R in FALBI; associated with macular dystrophy. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Ref.12 "Macular dystrophy in a Japanese family with fundus albipunctatus." Hotta K., Nakamura M., Kondo M., Ito S., Terasaki H., Miyake Y., Hida T. Am. J. Ophthalmol. 135:917-919(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI ARG-107.		VAR_016815
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	128 – 128	1	D → N in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs377029071 [ dbSNP | Ensembl ].		VAR_068717
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	132 – 132	1	V → M in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638187 [ dbSNP | Ensembl ].		VAR_016816
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	157 – 157	1	R → W in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs104894374 [ dbSNP | Ensembl ].		VAR_068718
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	164 – 164	1	V → F in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.13 "A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots." Yamamoto H., Yakushijin K., Kusuhara S., Escano M.F., Nagai A., Negi A. Am. J. Ophthalmol. 136:572-574(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI PHE-164.		VAR_016817
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	175 – 175	1	Y → F in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.14 "Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)." Skorczyk-Werner A., Pawlowski P., Michalczuk M., Warowicka A., Wawrocka A., Wicher K., Bakunowicz-Lazarczyk A., Krawczynski M.R. J. Appl. Genet. 56:317-327(2015) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI PHE-175. Corresponds to variant rs758411232 [ dbSNP | Ensembl ].		VAR_075309
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	177 – 177	1	V → G in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.9 "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus." Kuroiwa S., Kikuchi T., Yoshimura N. Am. J. Ophthalmol. 130:672-675(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI GLY-177 AND HIS-280. Corresponds to variant rs104894373 [ dbSNP | Ensembl ].		VAR_016818
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	238 – 238	1	G → W in FALBI; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region. 3 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Ref.8 "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus." Yamamoto H., Simon A., Eriksson U., Harris E., Berson E.L., Dryja T.P. Nat. Genet. 22:188-191(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI PHE-73 AND TRP-238, VARIANT VAL-33. Corresponds to variant rs62638191 [ dbSNP | Ensembl ].		VAR_009274
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	264 – 264	1	V → G in FALBI; decreased stability. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS.		VAR_068719
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	267 – 267	1	C → W in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.11 "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus." Driessen C.A., Janssen B.P., Winkens H.J., Kuhlmann L.D., Van Vugt A.H., Pinckers A.J., Deutman A.F., Janssen J.J. Ophthalmology 108:1479-1484(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT FALBI TRP-267.		VAR_016819
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	280 – 280	1	R → H in FALBI; decreased stability; loss of enzymatic activity. 4 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Ref.9 "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus." Kuroiwa S., Kikuchi T., Yoshimura N. Am. J. Ophthalmol. 130:672-675(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI GLY-177 AND HIS-280. Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638193 [ dbSNP | Ensembl ].		VAR_016820
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	281 – 281	1	Y → H in FALBI. 1 Publication <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.10 "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene." Nakamura M., Hotta Y., Tanikawa A., Terasaki H., Miyake Y. Invest. Ophthalmol. Vis. Sci. 41:3925-3932(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI SER-35; ARG-107; MET-132; HIS-280; HIS-281 AND 309-GLU-VAL-310 DELINS. Corresponds to variant rs62638194 [ dbSNP | Ensembl ].		VAR_016821
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	294 – 294	1	A → P in FALBI; associated with H-280; no effect on enzymatic activity; accumulates in the perinuclear region. 2 Publications <p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More…</a></p> Manual assertion based on experiment ini Ref.6 "Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus." Liden M., Romert A., Tryggvason K., Persson B., Eriksson U. J. Biol. Chem. 276:49251-49257(2001) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS FALBI SER-35; PHE-73; ILE-105; ASN-128; TRP-157; TRP-238; GLY-264; HIS-280; PRO-294 AND 309-GLU-VAL-310 DELINS. Ref.7 "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus." Gonzalez-Fernandez F., Kurz D., Bao Y., Newman S., Conway B.P., Young J.E., Han D.P., Khani S.C. Mol. Vis. 5:41-41(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS FALBI TRP-238; HIS-280 AND PRO-294. Corresponds to variant rs111033593 [ dbSNP | Ensembl ].		VAR_016822
<p>Describes natural variant(s) of the protein sequence.</p><p><a href='../manual/variant' target='_top'>More...</a></p>Natural varianti	310 – 310	1	L → EV in FALBI; loss of enzymatic activity; accumulates in the perinuclear region.		VAR_016823

Sequence databases

Genome annotation databases

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Coding sequence diversityⁱ

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

<p>Provides links to various web resources that are relevant for a specific protein.</p><p><a href='../manual/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Provides general information on the entry.</p><p><a href='../manual/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>Contains any relevant information that doesn’t fit in any other defined sections</p><p><a href='../manual/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

<p>UniProtKB Keywords constitute a <a target="_top" href="/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Technical termⁱ

Documents

1. Human chromosome 12
   Human chromosome 12: entries, gene names and cross-references to MIM
2. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
3. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. PATHWAY comments
   Index of metabolic and biosynthesis pathways
6. SIMILARITY comments
   Index of protein domains and families

<p>Provides links to the UniProt Reference Clusters (<a href="/help/uniref">UniRef</a>). UniRef consists of clusters for UniProtKB sequences (including isoforms) and selected UniParc sequences, in order to obtain complete coverage of the sequence space at resolutions of 100%, 90% and 50% identity.</p><p><a href='../manual/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ