KEGG   Homo sapiens (human): 145226
Entry
145226            CDS       T01001                                 
Symbol
RDH12, LCA13, RP53, SDR7C2
Name
(RefSeq) retinol dehydrogenase 12
  KO
K11153  retinol dehydrogenase 12 [EC:1.1.1.300]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00830  Retinol metabolism
hsa01100  Metabolic pathways
hsa01240  Biosynthesis of cofactors
Disease
H00837  Leber congenital amaurosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09108 Metabolism of cofactors and vitamins
   00830 Retinol metabolism
    145226 (RDH12)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.300  NADP-retinol dehydrogenase
     145226 (RDH12)
SSDB
Motif
Pfam: adh_short adh_short_C2 KR Epimerase AdoHcyase_NAD GDP_Man_Dehyd
Other DBs
NCBI-GeneID: 145226
NCBI-ProteinID: NP_689656
OMIM: 608830
HGNC: 19977
Ensembl: ENSG00000139988
UniProt: Q96NR8 A0A0S2Z613
Position
14:67701886..67734451
AA seq 316 aa
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELA
SRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLH
ILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHI
GKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
ERLWNVSCELLGIRWE
NT seq 951 nt   +upstreamnt  +downstreamnt
atgctggtcaccttgggactgctcacctccttcttctcgttcctgtatatggtagctcca
tccatcaggaagttctttgctggtggagtgtgtagaacaaatgtgcagcttcctggcaag
gtagtggtgatcactggcgccaacacgggcattggcaaggagacggccagagagctcgct
agccgaggagcccgagtctatattgcctgcagagatgtactgaagggggagtctgctgcc
agtgaaatccgagtggatacaaagaactcccaggtgctggtgcggaaattggacctatcc
gacaccaaatctatccgagcctttgctgagggctttctggcagaggaaaagcagctccat
attctgatcaacaatgcgggagtaatgatgtgtccatattccaagacagctgatggcttt
gaaacccacctgggagtcaaccacctgggccacttcctcctcacctacctgctcctggag
cggctaaaggtgtctgcccctgcacgggtggttaatgtgtcctcggtggctcaccacatt
ggcaagattcccttccacgacctccagagcgagaagcgctacagcaggggttttgcctat
tgccacagcaagctggccaatgtgctttttactcgtgagctggccaagaggctccaaggc
accggggtcaccacctacgcagtgcacccaggcgtcgtccgctctgagctggtccggcac
tcctccctgctctgcctgctctggcggctcttctccccctttgtcaagacggcacgggag
ggggcgcagaccagcctgcactgcgccctggctgagggcctggagcccctgagtggcaag
tacttcagtgactgcaagaggacctgggtgtctccaagggcccgaaataacaaaacagct
gagcgcctatggaatgtcagctgtgagcttctaggaatccggtgggagtag

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (7)   
   KEGG COMPOUND (7)   
Chemical reaction (3)   
   KEGG ENZYME (1)   
   KEGG REACTION (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (7)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (20)   
   RefSeq(nuc) (4)   
   GenBank (8)   
   EMBL (8)   
Protein domain (6)   
   Pfam (6)   
All databases (64)   

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