KEGG   Homo sapiens (human): 80270
Entry
80270             CDS       T01001                                 
Symbol
HSD3B7, CBAS1, PFIC4, SDR11E3
Name
(RefSeq) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
  KO
K12408  cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase [EC:1.1.1.181]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00120  Primary bile acid biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00104  Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholate
Network
nt06022  Bile acid biosynthesis
  Element
N00805  Bile acid biosynthesis
Disease
H00628  Congenital bile acid synthesis defect
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00120 Primary bile acid biosynthesis
    80270 (HSD3B7)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.181  cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase
     80270 (HSD3B7)
SSDB
Motif
Pfam: 3Beta_HSD Epimerase NAD_binding_4 GDP_Man_Dehyd NAD_binding_10 KR Polysacc_synt_2 RmlD_sub_bind adh_short NmrA Sacchrp_dh_NADP
Other DBs
NCBI-GeneID: 80270
NCBI-ProteinID: NP_079469
OMIM: 607764
HGNC: 18324
Ensembl: ENSG00000099377
UniProt: Q9H2F3
Position
16:30985207..30989147
AA seq 369 aa
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
VQAATGSAQ
NT seq 1110 nt   +upstreamnt  +downstreamnt
atggccgactctgcacaggcccagaagctggtgtacctggtcacagggggctgtggcttc
ctgggagagcacgtggtgcgaatgctgctgcagcgggagccccggctcggggagctgcgg
gtctttgaccaacacctgggtccctggctggaggagctgaagacagggcctgtgagggtg
actgccatccagggggacgtgacccaggcccatgaggtggcagcagctgtggccggagcc
catgtggtcatccacacggctgggctggtagacgtgtttggcagggccagtcccaagacc
atccatgaggtcaacgtgcagggtacccggaacgtgatcgaggcttgtgtgcagaccgga
acacggttcctggtctacaccagcagcatggaagttgtggggcctaacaccaaaggtcac
cccttctacaggggcaacgaagacaccccatacgaagcagtgcacaggcacccctatcct
tgcagcaaggccctggccgagtggctggtcctggaggccaacgggaggaaggtccgtggg
gggctgcccctggtgacgtgtgcccttcgtcccacgggcatctacggtgaaggccaccag
atcatgagggacttctaccgccagggcctgcgcctgggaggttggctcttccgggccatc
ccggcctctgtggagcatggccgggtctatgtgggcaatgttgcctggatgcacgtgctg
gcagcccgggagctggagcagcgggcaaccctgatgggcggccaggtatacttctgctac
gatggatcaccctacaggagctacgaggatttcaacatggagttcctgggcccctgcgga
ctgcggctggtgggcgcccgcccattgctgccctactggctgctggtgttcctggctgcc
ctcaatgccctgctgcagtggctgctgcggccactggtgctctacgcacccctgctgaac
ccctacacgctggccgtggccaacaccaccttcaccgtcagcaccgacaaggctcagcgc
catttcggctatgagcccctgttctcgtgggaggatagccggacccgtaccattctctgg
gtacaggccgctacgggttcagcccagtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (2)   
   KEGG MODULE (1)   
Network (2)   
   KEGG NETWORK (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical substance (13)   
   KEGG COMPOUND (13)   
Chemical reaction (6)   
   KEGG ENZYME (1)   
   KEGG REACTION (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (17)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (15)   
DNA sequence (31)   
   RefSeq(nuc) (15)   
   GenBank (8)   
   EMBL (8)   
Protein domain (11)   
   Pfam (11)   
All databases (112)   

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