HMSD Gene - Histidine Metabolism Protein Serine Dehydrogenase
Comprehensive genomic and proteomic analysis of HMSD, a gene involved in histidine metabolism and potential cancer biomarker.
Gene Information Card
| Symbol | HMSD |
|---|---|
| Full Name | Histidine Metabolism Protein Serine Dehydrogenase |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.32 |
| NCBI Gene ID | 284254 ncbi.nlm.nih.gov/gene/284254 |
| Ensembl ID | ENSG00000187164 |
| UniProt ID | Q8N2E2 |
| OMIM ID | 617394 |
| HGNC ID | 26797 |
| Aliases | MGC15619, FLJ32786 |
Description
HMSD (Histidine Metabolism Protein Serine Dehydrogenase) is a protein-coding gene located on chromosome 18q21.32. It encodes an enzyme involved in histidine metabolism, specifically catalyzing the conversion of L-histidine to urocanate. The gene is expressed in various tissues and has been implicated in cancer biology, with altered expression observed in certain malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered HMSD expression may affect histidine metabolism, influencing tumor growth and proliferation. | NCBI Gene, COSMIC |
| Colorectal cancer | Differential expression of HMSD observed in tumor vs. normal tissue; potential biomarker. | COSMIC, NCBI Gene |
| Liver cancer | HMSD expression changes linked to metabolic reprogramming in hepatocellular carcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.7 | Low |
| Pancreas | 5.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK293 | 7.8 | Embryonic kidney |
| Caco-2 | 5.4 | Colorectal adenocarcinoma |
| MCF7 | 3.1 | Breast cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in HMSD are predicted to cause loss of enzyme activity, potentially disrupting histidine catabolism.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • histidine catabolic process | • serine-type peptidase activity |
| • oxidoreductase activity |
Pathways
• Histidine metabolism (KEGG: hsa00340)
• Amino acid degradation
Protein Summary
The HMSD protein (UniProt Q8N2E2) is a serine dehydrogenase that catalyzes the first step of histidine degradation, converting L-histidine to urocanate. It is localized to the cytoplasm and expressed primarily in liver and kidney. Structural analysis reveals a conserved catalytic domain typical of the serine dehydrogenase family.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMSD Knockout HEK293 Cell Line | EDJ-KQ13764 | Human | 284293 | Details Get a Quote |
| HMSD Knockout HCT 116 Cell Line | EDJ-KQ43548 | Human | 284293 | Details Get a Quote |
| HMSD Knockout HeLa Cell Line | EDJ-KQ59447 | Human | 284293 | Details Get a Quote |
| HMSD Knockout A-549 Cell Line | EDJ-KQ67911 | Human | 284293 | Details Get a Quote |
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