KEGG   Homo sapiens (human): 1717
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)
SSDB
Motif
Pfam: ERG4_ERG24 HKR_ArcB_TM
Other DBs
NCBI-GeneID: 1717
NCBI-ProteinID: NP_001157289
OMIM: 602858
HGNC: 2860
Ensembl: ENSG00000172893
UniProt: Q9UBM7 A0A024R5F7
Position
11:complement(71434411..71448393)
AA seq 475 aa
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMA
CDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVTFQVLLYTSLPDFCHK
FLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPL
LWCANILGYAVSTFAMVKGYFFPTSARDCKFTGNFFYNYMMGIEFNPRIGKWFDFKLFFN
GRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHD
HFGWYLGWGDCVWLPYLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDL
FRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
NT seq 1428 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (2)   
   KEGG MODULE (2)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (11)   
   KEGG COMPOUND (11)   
Chemical reaction (5)   
   KEGG ENZYME (1)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (21)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (18)   
DNA sequence (56)   
   RefSeq(nuc) (18)   
   GenBank (19)   
   EMBL (19)   
Protein domain (2)   
   Pfam (2)   
All databases (130)   

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