| Entry |
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| Gene name |
LRAT, LCA14
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| Definition |
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (EC:2.3.1.135)
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| Orthology |
| phosphatidylcholine-retinol O-acyltransferase [EC: 2.3.1.135] |
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| Organism |
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| Pathway |
| Retinol metabolism | | Vitamin digestion and absorption |
|
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| Disease |
| Retinitis pigmentosa (RP) | | Leber congenital amaurosis (LCR) |
|
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| Class |
Metabolism; Metabolism of cofactors and vitamins; Retinol metabolism [PATH: hsa00830]
Organismal Systems; Digestive system; Vitamin digestion and absorption [PATH: hsa04977]
 |
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
4q32.1
|
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| AA seq |
230 aa  
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTH
YGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGA
NILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDK
FCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG |
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| NT seq |
693 nt  +upstreamnt +downstreamnt
atgaagaaccccatgctggaggtggtgtctttactactggagaagctgctcctcatctcc
aacttcacgctctttagttcgggcgccgcgggcgaagacaaagggaggaacagtttttat
gaaaccagctctttccaccgaggcgacgtgctggaggtgccccggacccacctgacccac
tatggcatctacctaggagacaaccgtgttgcccacatgatgcccgacatcctgttggcc
ctgacagacgacatggggcgcacgcagaaggtggtctccaacaagcgtctcatcctgggc
gttattgtcaaagtggccagcatccgcgtggacacagtggaggacttcgcctacggagct
aacatcctggtcaatcacctggacgagtccctccagaaaaaggcactgctcaacgaggag
gtggcgcggagggctgaaaagctgctgggctttaccccctacagcctgctgtggaacaac
tgcgagcacttcgtgacctactgcagatatggcaccccgatcagtccccagtccgacaag
ttttgtgagactgtgaagataattattcgtgatcagagaagtgttcttgcttcagcagtc
ttgggattggcgtctatagtctgtacgggcttggtatcatacactacccttcctgcaatt
tttattccattcttcctatggatggctggctaa |
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