Homo sapiens (human): 1717
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Entry
1717 CDS
T01001
Symbol
DHCR7, SLOS
Name
(RefSeq) 7-dehydrocholesterol reductase
KO
K00213
7-dehydrocholesterol reductase [EC:
1.3.1.21
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00100
Steroid biosynthesis
hsa01100
Metabolic pathways
Module
hsa_M00101
Cholesterol biosynthesis, FPP => cholesterol
Network
nt06034
Cholesterol biosynthesis
Element
N01624
Cholesterol biosynthesis
Disease
H00161
Smith-Lemli-Opitz syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00100 Steroid biosynthesis
1717 (DHCR7)
Enzymes [BR:
hsa01000
]
1. Oxidoreductases
1.3 Acting on the CH-CH group of donors
1.3.1 With NAD+ or NADP+ as acceptor
1.3.1.21 7-dehydrocholesterol reductase
1717 (DHCR7)
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Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
ERG4_ERG24
HKR_ArcB_TM
Motif
Other DBs
NCBI-GeneID:
1717
NCBI-ProteinID:
NP_001157289
OMIM:
602858
HGNC:
2860
Ensembl:
ENSG00000172893
UniProt:
Q9UBM7
A0A024R5F7
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Position
11:complement(71434411..71448393)
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AA seq
475 aa
AA seq
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MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
NT seq
1428 nt
NT seq
+upstream
nt +downstream
nt
atggctgcaaaatcgcaacccaacattcccaaagccaagagtctagatggcgtcaccaat
gacagaaccgcatctcaagggcagtggggccgtgcctgggaggtggactggttttcactg
gcgagcgtcatcttcctactgctgttcgcccccttcatcgtctactacttcatcatggct
tgtgaccagtacagctgcgccctgactggccctgtggtggacatcgtcaccggacatgct
cggctctcggacatctgggccaagactccacctataacgaggaaagccgcccagctctat
accttgtgggtcaccttccaggtgcttctgtacacgtctctccctgacttctgccataag
tttctacccggctacgtaggaggcatccaggagggggccgtgactcctgcaggggttgtg
aacaagtatcagatcaatggcctgcaagcctggctcctcacgcacctgctctggtttgca
aacgctcatctcctgtcctggttctcgcccaccatcatcttcgacaactggatcccactg
ctgtggtgcgccaacatccttggctatgccgtctccaccttcgccatggtcaagggctac
ttcttccccaccagcgccagagactgcaaattcacaggcaatttcttttacaactacatg
atgggcatcgagtttaaccctcggatcgggaagtggtttgacttcaagctgttcttcaat
gggcgccccgggatcgtcgcctggaccctcatcaacctgtccttcgcagcgaagcagcgg
gagctccacagccatgtgaccaatgccatggtcctggtcaacgtcctgcaggccatctac
gtgattgacttcttctggaacgaaacctggtacctgaagaccattgacatctgccatgac
cacttcgggtggtacctgggctggggcgactgtgtctggctgccttatctttacacgctg
cagggtctgtacttggtgtaccaccccgtgcagctgtccaccccgcacgccgtgggcgtc
ctgctgctgggcctggtgggctactacatcttccgggtggccaaccaccagaaggacctg
ttccgccgcacggatgggcgctgcctcatctggggcaggaagcccaaggtcatcgagtgc
tcctacacatccgccgatgggcagaggcaccacagcaagctgctggtgtcgggcttctgg
ggcgtggcccgccacttcaactacgtcggcgacctgatgggcagcctggcctactgcctg
gcctgtggcggcggccacctgctgccctacttctacatcatctacatggccatcctgctg
acccaccgctgcctccgggacgagcaccgctgcgccagcaagtacggccgggactgggag
cgctacaccgccgcagtgccttaccgcctgctgcctggaatcttctaa
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