KEGG   Homo sapiens (human): 1717Help
Entry
1717              CDS       T01001                                 

Gene name
DHCR7, SLOS
Definition
(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, squalene 2,3-epoxide => cholesterol
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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: ERG4_ERG24 HKR_ArcB_TM
Motif
Other DBs
NCBI-GeneID: 1717
NCBI-ProteinID: NP_001157289
OMIM: 602858
HGNC: 2860
Ensembl: ENSG00000172893
Vega: OTTHUMG00000167346
Pharos: Q9UBM7(Tchem)
UniProt: Q9UBM7 A0A024R5F7
Position
11q13.4
AA seq 475 aa AA seqDB search
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
NT seq 1428 nt NT seq  +upstreamnt  +downstreamnt
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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