Gene/Proteome Database (LMPD)
LMPD ID
LMP000521
Gene ID
Species
Homo sapiens (Human)
Gene Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Gene Symbol
Synonyms
LCA13; LCA3; RP53; SDR7C2
Alternate Names
retinol dehydrogenase 12; all-trans and 9-cis retinol dehydrogenase; retinol dehydrogenase 12, all-trans and 9-cis; short chain dehydrogenase/reductase family 7C, member 2
Chromosome
14
Map Location
14q24.1
EC Number
1.1.1.-
Summary
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| retinol dehydrogenase 12 precursor | |
|---|---|
| Refseq ID | NP_689656 |
| Protein GI | 186928839 |
| UniProt ID | Q96NR8 |
| mRNA ID | NM_152443 |
| Length | 316 |
| RefSeq Status | REVIEWED |
| MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTAERLWNVSCELLGIRWE | |
| sig_peptide: 1..20 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 2251 peptide sequence: MLVTLGLLTSFFSFLYMVAP | |
Gene Information
Entrez Gene ID
Gene Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005622 | IDA:UniProtKB | C | intracellular |
| GO:0060342 | TAS:Reactome | C | photoreceptor inner segment membrane |
| GO:0004745 | IDA:UniProtKB | F | retinol dehydrogenase activity |
| GO:0045494 | TAS:UniProtKB | P | photoreceptor cell maintenance |
| GO:0007603 | TAS:Reactome | P | phototransduction, visible light |
| GO:0001523 | TAS:Reactome | P | retinoid metabolic process |
| GO:0042572 | IDA:UniProtKB | P | retinol metabolic process |
| GO:0007601 | TAS:UniProtKB | P | visual perception |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| hsa00830 | Retinol metabolism |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_160156 | The canonical retinoid cycle in rods (twilight vision) |
Domain Information
UniProt Annotations
Entry Information
Gene Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Protein Entry
RDH12_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Disease | Leber congenital amaurosis 13 (LCA13) [MIM |
| Disease | Retinitis pigmentosa 53 (RP53) [MIM |
| Function | Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments. |
| Interaction | P0CG48:UBC; NbExp=2; IntAct=EBI-3916363, EBI-3390054; |
| Similarity | Belongs to the short-chain dehydrogenases/reductases (SDR) family. |
| Tissue Specificity | Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000521 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 186928839 | RefSeq | NP_689656 | 316 | retinol dehydrogenase 12 precursor |
Identical Sequences to LMP000521 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:186928839 | DBBJ | BAG37849.1 | 316 | unnamed protein product [Homo sapiens] |
| GI:186928839 | GenBank | EAW80951.1 | 316 | retinol dehydrogenase 12 (all-trans and 9-cis) [Homo sapiens] |
| GI:186928839 | RefSeq | XP_002824913.1 | 316 | PREDICTED: retinol dehydrogenase 12 [Pongo abelii] |
| GI:186928839 | RefSeq | XP_008976046.1 | 316 | PREDICTED: retinol dehydrogenase 12 isoform X1 [Pan paniscus] |
| GI:186928839 | RefSeq | XP_009426266.1 | 316 | PREDICTED: retinol dehydrogenase 12 isoform X1 [Pan troglodytes] |
| GI:186928839 | SwissProt | Q96NR8.3 | 316 | RecName: Full=Retinol dehydrogenase 12; AltName: Full=All-trans and 9-cis retinol dehydrogenase [Homo sapiens] |
Related Sequences to LMP000521 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:186928839 | GenBank | AAH25724.1 | 316 | Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) [Homo sapiens] |
| GI:186928839 | GenBank | ADQ33178.1 | 316 | retinol dehydrogenase 12 (all-trans/9-cis/11-cis), partial [synthetic construct] |
| GI:186928839 | GenBank | EHH27984.1 | 316 | hypothetical protein EGK_18313 [Macaca mulatta] |
| GI:186928839 | GenBank | AHD77724.1 | 316 | Sequence 23853 from patent US 8586006 |
| GI:186928839 | GenBank | AIC57759.1 | 316 | RDH12, partial [synthetic construct] |
| GI:186928839 | RefSeq | XP_002805156.1 | 316 | PREDICTED: retinol dehydrogenase 12-like isoform 2 [Macaca mulatta] |