HSDL1: Hydroxysteroid Dehydrogenase Like 1
A comprehensive biomedical overview of HSDL1, including gene characteristics, expression, mutations, and functional annotations.
Gene Information Card
| Symbol | HSDL1 |
|---|---|
| Full Name | Hydroxysteroid Dehydrogenase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.1 |
| NCBI Gene ID | 83693 ncbi.nlm.nih.gov/gene/83693 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q3SXM5 |
| OMIM ID | 618237 |
| HGNC ID | 24942 |
| Aliases | HSPC111, MGC13170, dJ222E13.1 |
Description
HSDL1 (Hydroxysteroid Dehydrogenase Like 1) is a protein-coding gene located on chromosome 16q24.1. It encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which may be involved in steroid metabolism and cellular redox regulation. The gene is widely expressed in various tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Liver cancer cell line |
| HEK293 | 5.4 | Embryonic kidney cells |
| A549 | 3.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign (ClinVar) |
| c.100C>T | Synonymous | <0.01% | No known effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • 3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854) | • oxidoreductase activity (GO:0016491) |
| • steroid biosynthetic process (GO:0006694) | • cytoplasm (GO:0005737) |
Pathways
• Steroid hormone biosynthesis (Reactome: R-HSA-196071)
• Metabolism of steroids (Reactome: R-HSA-8957322)
Protein Summary
HSDL1 encodes a 318-amino acid protein belonging to the short-chain dehydrogenases/reductases (SDR) family. The protein is predicted to localize to the cytoplasm and may function as an oxidoreductase in steroid metabolism. Its exact physiological role remains under investigation, but it is thought to participate in the biosynthesis and degradation of steroid hormones.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HSDL1 Knockout HEK293 Cell Line | EDJ-KQ9885 | Human | 83693 | Details Get a Quote |
| HSDL1 Knockout HCT 116 Cell Line | EDJ-KQ35561 | Human | 83693 | Details Get a Quote |
| HSDL1 Knockout A-549 Cell Line | EDJ-KQ36762 | Human | 83693 | Details Get a Quote |
| HSDL1 Knockout HeLa Cell Line | EDJ-KQ36764 | Human | 83693 | Details Get a Quote |
