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This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7) is a Protein Coding gene. Diseases associated with HSD3B7 include Bile Acid Synthesis Defect, Congenital, 1 and Congenital Bile Acid Synthesis Defect. Among its related pathways are Synthesis of bile acids and bile salts and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and coenzyme binding. An important paralog of this gene is HSD3B2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003854 | 3-beta-hydroxy-delta5-steroid dehydrogenase activity | IEA,TAS | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0016491 | oxidoreductase activity | IBA | 21873635 |
GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IEA,IBA | 21873635 |
GO:0047016 | cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005811 | lipid droplet | IDA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Synthesis of bile acids and bile salts | ||
2 | Metabolism |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006694 | steroid biosynthetic process | IEA | -- |
GO:0006699 | bile acid biosynthetic process | TAS | 11067870 |
GO:0035754 | B cell chemotaxis | IEA,ISS | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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(24S)-7alpha,24-Dihydroxycholesterol |
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3beta,7alpha-Dihydroxy-5-cholestenoate |
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115538-84-6 |
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7 alpha,24-Dihydroxy-4-cholesten-3-one |
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7 alpha,26-Dihydroxy-4-cholesten-3-one |
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4675-38-1 |
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7-a,25-Dihydroxycholesterol |
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64907-22-8 |
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ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b |
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SP1: | - | - | - | - | |||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||
SP6: | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HSD3B7 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | HSD3B7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HSD3B7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hsd3b7 30 |
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Mouse (Mus musculus) |
Mammalia | Hsd3b7 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HSD3B7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HSD3B7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HSD3B7 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HSD3B7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hsd3b7 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | hsd3b7 30 31 |
|
OneToOne | |
wufi12g10 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | CG7724 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C32D5.12 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ERG26 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
742794 | Likely Benign: not provided | 30,987,928(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs104894518 | Pathogenic: Congenital bile acid synthesis defect 1; not provided. Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765] | 30,986,612(+) | G/Ap.Glu147Lys | MISSENSE_VARIANT | |
rs1057524162 | Uncertain Significance: not provided | 30,986,485(+) | A/G | MISSENSE_VARIANT | |
rs117645456 | Benign: not specified; not provided | 30,986,457(+) | C/T | SYNONYMOUS_VARIANT | |
rs1343784849 | Uncertain Significance: not provided | 30,986,538(+) | G/GA | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
bile acid synthesis defect, congenital, 1 |
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congenital bile acid synthesis defect |
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cholestasis |
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liver disease |
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neonatal jaundice |
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