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 GDP_Man_Dehyd NAD_binding_4 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
Pharos: Q9H2F3(Tbio)
UniProt: Q9H2F3
LinkDB
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

DBGET integrated database retrieval system