KEGG   Homo sapiens (human): 145226Help
Entry
145226            CDS       T01001                                 

Gene name
RDH12, LCA13, RP53, SDR7C2
Definition
(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
Disease
H00837  Leber congenital amaurosis (LCR)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: adh_short adh_short_C2 KR AdoHcyase_NAD Epimerase Glyco_trans_4_2 NAD_binding_10
Motif
Other DBs
NCBI-GeneID: 145226
NCBI-ProteinID: NP_689656
OMIM: 608830
HGNC: 19977
Ensembl: ENSG00000139988
Vega: OTTHUMG00000170032
Pharos: Q96NR8(Tbio)
UniProt: Q96NR8 A0A0S2Z613
Position
14q24.1
AA seq 316 aa AA seqDB search
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELA
SRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLSDTKSIRAFAEGFLAEEKQLH
ILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHI
GKIPFHDLQSEKRYSRGFAYCHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRH
SSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
ERLWNVSCELLGIRWE
NT seq 951 nt NT seq  +upstreamnt  +downstreamnt
atgctggtcaccttgggactgctcacctccttcttctcgttcctgtatatggtagctcca
tccatcaggaagttctttgctggtggagtgtgtagaacaaatgtgcagcttcctggcaag
gtagtggtgatcactggcgccaacacgggcattggcaaggagacggccagagagctcgct
agccgaggagcccgagtctatattgcctgcagagatgtactgaagggggagtctgctgcc
agtgaaatccgagtggatacaaagaactcccaggtgctggtgcggaaattggacctatcc
gacaccaaatctatccgagcctttgctgagggctttctggcagaggaaaagcagctccat
attctgatcaacaatgcgggagtaatgatgtgtccatattccaagacagctgatggcttt
gaaacccacctgggagtcaaccacctgggccacttcctcctcacctacctgctcctggag
cggctaaaggtgtctgcccctgcacgggtggttaatgtgtcctcggtggctcaccacatt
ggcaagattcccttccacgacctccagagcgagaagcgctacagcaggggttttgcctat
tgccacagcaagctggccaatgtgctttttactcgtgagctggccaagaggctccaaggc
accggggtcaccacctacgcagtgcacccaggcgtcgtccgctctgagctggtccggcac
tcctccctgctctgcctgctctggcggctcttctccccctttgtcaagacggcacgggag
ggggcgcagaccagcctgcactgcgccctggctgagggcctggagcccctgagtggcaag
tacttcagtgactgcaagaggacctgggtgtctccaagggcccgaaataacaaaacagct
gagcgcctatggaatgtcagctgtgagcttctaggaatccggtgggagtag

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