ZFIN is now using GRCz12tu for Genomic Data
Gene
hsd17b4
- ID
- ZDB-GENE-040421-1
- Name
- hydroxysteroid (17-beta) dehydrogenase 4
- Symbol
- hsd17b4 Nomenclature History
- Previous Names
-
- Dbp (1)
- zgc:55545
- zgc:77300
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 3-hydroxyacyl-CoA dehydratase activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Acts upstream of or within embryonic organ development and neuron development. Predicted to be located in peroxisome. Human ortholog(s) of this gene implicated in D-bifunctional protein deficiency; Perrault syndrome; and Stiff-Person syndrome. Orthologous to human HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77300 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Kim et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| D-bifunctional protein deficiency | Alliance | D-bifunctional protein deficiency | 261515 |
| Perrault syndrome | Alliance | Perrault syndrome 1 | 233400 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020904 | Short-chain dehydrogenase/reductase, conserved site |
| Domain | IPR002539 | MaoC-like dehydratase domain |
| Domain | IPR003033 | SCP2 sterol-binding domain |
| Domain | IPR054357 | Peroxisomal multifunctional enzyme type 2-like, N-terminal domain |
| Domain | IPR057326 | Ketoreductase domain |
| Family | IPR002347 | Short-chain dehydrogenase/reductase SDR |
| Family | IPR051687 | Peroxisomal Beta-Oxidation Enzymes |
| Homologous_superfamily | IPR029069 | HotDog domain superfamily |
| Homologous_superfamily | IPR036291 | NAD(P)-binding domain superfamily |
| Homologous_superfamily | IPR036527 | SCP2 sterol-binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | HotDog domain superfamily | Ketoreductase domain | MaoC-like dehydratase domain | NAD(P)-binding domain superfamily | Peroxisomal Beta-Oxidation Enzymes | Peroxisomal multifunctional enzyme type 2-like, N-terminal domain | SCP2 sterol-binding domain | SCP2 sterol-binding domain superfamily | Short-chain dehydrogenase/reductase, conserved site | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PQQ8 | InterPro | 749 | ||||||||||
| UniProtKB:Q8AYH1 | InterPro | 725 | ||||||||||
| UniProtKB:A0AC58G6E6 | InterPro | 377 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
hsd17b4-201
(1)
|
Ensembl | 2,178 nt |
Interactions and Pathways
No data available
Plasmids
- Genome Browsers