| Entry |
|
| Gene name |
AKR1D1, 3o5bred, CBAS2, SRD5B1
|
| Definition |
aldo-keto reductase family 1, member D1 (EC:1.3.1.3)
|
| Orthology |
| 3-oxo-5-beta-steroid 4-dehydrogenase [EC: 1.3.1.3] |
|
| Organism |
|
| Pathway |
| Primary bile acid biosynthesis | | Steroid hormone biosynthesis | | Metabolic pathways |
|
| Module |
| Bile acid biosynthesis, cholesterol => cholate |
|
| Disease |
| Congenital bile acid synthesis defect (CBAS) |
|
| Class |
Metabolism; Lipid metabolism; Primary bile acid biosynthesis [PATH: hsa00120]
Metabolism; Lipid metabolism; Steroid hormone biosynthesis [PATH: hsa00140]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Structure |
PDB: |
| Position |
7q32-q33
|
| AA seq |
285 aa  
MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQN
EHEVGEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIE
VPMAFKPGDEIYPRDENGKWLYHKSNLCATWEVECHPYFTQPKLLKFCQQHDIVITAYSP
LGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIK
ENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEYPFHDEY |
| NT seq |
858 nt  +upstreamnt +downstreamnt
atggatctcagtgctgcaagtcaccgcatacctctaagtgatggaaacagcattcccatc
atcggacttggtacctactcagaacctaaatcgacccctaagggagcctgtgcaacatcg
gtgaaggttgctattgacacagggtaccgacatattgatggggcctacatctaccaaaat
gaacacgaagttggggaggccatcagggagaagatagcagaaggaaaggtgcggagggaa
gatatcttctactgtggaaagctatgggctacaaatcatgtcccagagatggtccgccca
accctggagaggacactcagggtcctccagctagattatgtggatctttacatcattgaa
gtacccatggcctttaagccaggagatgaaatataccctagagatgagaatggcaaatgg
ttatatcacaagtcaaatctgtgtgccacttgggaggttgagtgccatccgtatttcacc
cagccaaaactcttgaaattttgccaacaacatgacattgtcattactgcatatagccct
ttggggaccagtaggaatccaatctgggtgaatgtttcttctccacctttgttaaaggat
gcacttctaaactcattggggaaaaggtacaataagacagcagctcaaattgttttgcgt
ttcaacatccagcgaggggtggttgtcattcctaaaagctttaatcttgaaaggatcaaa
gaaaattttcagatctttgacttttctctcactgaagaagaaatgaaggacattgaagcc
ttgaataaaaatgtccgctttgtagaattgctcatgtggcgcgatcatcctgaataccca
tttcatgatgaatactga |