| Entry |
|
| Gene name |
SRD5A3, CDG1P, CDG1Q, KRIZI, SRD5A2L, SRD5A2L1
|
| Definition |
steroid 5 alpha-reductase 3 (EC:1.3.1.22 1.3.1.94)
|
| Orthology |
|
| Organism |
|
| Pathway |
| Steroid hormone biosynthesis |
|
| Disease |
| Congenital disorders of glycosylation (CDG) type I |
|
| Drug target |
|
| Class |
Metabolism; Lipid metabolism; Steroid hormone biosynthesis [PATH: hsa00140]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
4q12
|
| AA seq |
318 aa  
MAPWAEAEHSALNPLRAVWLTLTAAFLLTLLLQLLPPGLLPGCAIFQDLIRYGKTKCGEP
SRPAACRAFDVPKRYFSHFYIISVLWNGFLLWCLTQSLFLGAPFPSWLHGLLRILGAAQF
QGGELALSAFLVLVFLWLHSLRRLFECLYVSVFSNVMIHVVQYCFGLVYYVLVGLTVLSQ
VPMDGRNAYITGKNLLMQARWFHILGMMMFIWSSAHQYKCHVILGNLRKNKAGVVIHCNH
RIPFGDWFEYVSSPNYLAELMIYVSMAVTFGFHNLTWWLVVTNVFFNQALSAFLSHQFYK
SKFVSYPKHRKAFLPFLF |
| NT seq |
957 nt  +upstreamnt +downstreamnt
atggctccctgggcggaggccgagcactcggcgctgaacccgctgcgcgcggtgtggctc
acgctgaccgccgccttcctgctgaccctactgctgcagctcctgccgcccggcctgctc
ccgggctgcgcgatcttccaggacctgatccgctatgggaaaaccaagtgtggggagccg
tcgcgccccgccgcctgccgagcctttgatgtccccaagagatatttttcccacttttat
atcatctcagtgctgtggaatggcttcctgctttggtgccttactcaatctctgttcctg
ggagcaccttttccaagctggcttcatggtttgctcagaattctcggggcggcacagttc
cagggaggggagctggcactgtctgcattcttagtgctagtatttctgtggctgcacagc
ttacgaagactcttcgagtgcctctacgtcagtgtcttctccaatgtcatgattcacgtc
gtgcagtactgttttggacttgtctattatgtccttgttggcctaactgtgctgagccaa
gtgccaatggatggcaggaatgcctacataacagggaaaaatctattgatgcaagcacgg
tggttccatattcttgggatgatgatgttcatctggtcatctgcccatcagtataagtgc
catgttattctcggcaatctcaggaaaaataaagcaggagtggtcattcactgtaaccac
aggatcccatttggagactggtttgaatatgtttcttcccctaactacttagcagagctg
atgatctacgtttccatggccgtcacctttgggttccacaacttaacttggtggctagtg
gtgacaaatgtcttctttaatcaggccctgtctgcctttctcagccaccaattctacaaa
agcaaatttgtctcttacccgaagcataggaaagctttcctaccatttttgttttaa |