Homo sapiens (human): 2531
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Entry
2531 CDS
T01001
Symbol
KDSR, DHSR, EKVP4, FVT1, SDR35C1
Name
(RefSeq) 3-ketodihydrosphingosine reductase
KO
K04708
3-dehydrosphinganine reductase [EC:
1.1.1.102
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00600
Sphingolipid metabolism
hsa01100
Metabolic pathways
Module
hsa_M00094
Ceramide biosynthesis
hsa_M00099
Sphingosine biosynthesis
Disease
H00710
Erythrokeratodermia variabilis
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00600 Sphingolipid metabolism
2531 (KDSR)
Enzymes [BR:
hsa01000
]
1. Oxidoreductases
1.1 Acting on the CH-OH group of donors
1.1.1 With NAD+ or NADP+ as acceptor
1.1.1.102 3-dehydrosphinganine reductase
2531 (KDSR)
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Gene cluster
GFIT
Motif
Pfam:
adh_short
adh_short_C2
KR
NAD_binding_10
Sacchrp_dh_NADP
Polysacc_synt_2
THF_DHG_CYH_C
RapZ-like_N
Motif
Other DBs
NCBI-GeneID:
2531
NCBI-ProteinID:
NP_002026
OMIM:
136440
HGNC:
4021
Ensembl:
ENSG00000119537
Pharos:
Q06136
(Tbio)
UniProt:
Q06136
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Position
18:complement(63327726..63367206)
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AA seq
332 aa
AA seq
DB search
MLLLAAAFLVAFVLLLYMVSPLISPKPLALPGAHVVVTGGSSGIGKCIAIECYKQGAFIT
LVARNEDKLLQAKKEIEMHSINDKQVVLCISVDVSQDYNQVENVIKQAQEKLGPVDMLVN
CAGMAVSGKFEDLEVSTFERLMSINYLGSVYPSRAVITTMKERRVGRIVFVSSQAGQLGL
FGFTAYSASKFAIRGLAEALQMEVKPYNVYITVAYPPDTDTPGFAEENRTKPLETRLISE
TTSVCKPEQVAKQIVKDAIQGNFNSSLGSDGYMLSALTCGMAPVTSITEGLQQVVTMGLF
RTIALFYLGSFDSIVRRCMMQREKSENADKTA
NT seq
999 nt
NT seq
+upstream
nt +downstream
nt
atgctgctgctggctgccgccttcctcgtggccttcgtgctgctgctgtacatggtgtct
ccgctcatcagccccaagcccctcgccctgcccggggcgcatgtggtggttacaggaggt
tccagtggcatcgggaagtgcattgctatcgagtgctataaacaaggagcttttataact
ctggttgcacgaaatgaggataagctgctgcaggcaaagaaagaaattgaaatgcactct
attaatgacaaacaggtggtgctttgcatatcagttgatgtatctcaagactataaccaa
gtagagaatgtcataaaacaagcacaggagaaactgggtccagtggacatgctggtaaat
tgtgcaggaatggcagtgtcaggaaaatttgaagatcttgaagttagtacctttgaaagg
ttaatgagcatcaattacctgggcagcgtgtaccccagccgggccgtgatcaccaccatg
aaggagcgccgggtgggcaggatcgtgtttgtgtcctcccaggcaggacagttgggatta
ttcggtttcacagcctactctgcatccaagtttgccataaggggattggcagaagctttg
cagatggaggtgaagccatataatgtctacatcacagttgcttacccaccagacacagac
acacctggctttgccgaagaaaacagaacaaagcctttggagactcgacttatttcagag
accacatctgtgtgcaaaccagaacaggtggccaaacaaattgttaaagatgccatacaa
ggaaatttcaacagttcccttggctcagatgggtacatgctctcggccctgacctgtggg
atggctccagtaacttctattactgaggggctccagcaggtggtcaccatgggccttttc
cgcactattgctttgttttaccttggaagttttgacagcatagttcgtcgctgcatgatg
cagagagaaaaatctgaaaatgcagacaaaactgcctaa
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