| Type | Description |
|---|---|
| Definition | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| Date | Results | Publications |
|---|---|---|
| 2019-02-23 10:30:00 | In the classical pathway, HSD3B7 catalyzes the second step of bile acid formation and its mutations may reduce the synthetic capability. | 29670816 |
| 2017-01-28 10:11:00 | Novel Mutations in the 3beta-hydroxy-5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis. | 26712441 |
| 2016-10-08 12:23:00 | Expression of steroid sulfated transporters and 3beta-HSD activity in endometrium of polycystic ovary syndrome | 26450365 |
| 2012-05-26 11:08:00 | Homozygosity mapping identifies a bile acid biosynthetic defect (3beta-HSD deficiency due to a frameshift mutation in HSD3B7) in an adult with cirrhosis of unknown etiology. | 22095780 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 21044367 |
| Type | IDs |
|---|---|
| Synonymous | CBAS1, PFIC4, SDR11E3 |
| Gene |
UniProtKB-ID:
3BHS7_HUMAN
UniprotKB:
Q9H2F3
UniParc:
UPI000007399B,
UPI000006D7D0
EMBL:
AF277719,
CH471192,
AK057436,
AC135048,
BC004929,
AK292068,
AK290950
Ensembl:
ENSG00000099377
KO:
hsa:80270
|
| Nucleutide sequences |
EMBL-CDS:
BAB71486.1,
AAG37824.1,
BAF83639.1,
EAW52183.1,
AAH04929.1,
BAF84757.1
Ensembl_TRS:
ENST00000297679,
ENST00000262520
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000297679,
ENSP00000262520
RefSeq:
NP_001136249.1,
XP_005255658.2,
NP_079469.2,
XP_011544262.1,
NP_001136250.1,
XP_011544264.1,
XP_011544263.1,
XP_016879221.1
|
| Others |
UniRef100:
UniRef100_Q9H2F3
UniRef90:
UniRef90_Q9H2F3
UniRef50:
UniRef50_Q9H2F3
UniGene:
Hs.460618
CCDS:
CCDS45466.1,
CCDS10698.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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