HORMAD1
HORMAD1 (HORMA Domain Containing 1) is a key meiotic regulator involved in chromosome synapsis and DNA repair, with emerging roles in cancer and infertility.
Gene Information Card
| Symbol | HORMAD1 |
|---|---|
| Full Name | HORMA Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 84072 ncbi.nlm.nih.gov/gene/84072 |
| Ensembl ID | ENSG00000143469 |
| UniProt ID | Q86X24 |
| OMIM ID | 618453 |
| HGNC ID | 24912 |
| Aliases | CT46, HORMAD1, HORMA domain-containing protein 1 |
Description
HORMAD1 encodes a HORMA domain-containing protein that is essential for meiotic chromosome synapsis and homologous recombination. It is a cancer/testis antigen, normally expressed in testis but aberrantly activated in various cancers, where it may promote genomic instability and immune evasion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-obstructive azoospermia | Loss of HORMAD1 disrupts meiotic synapsis, leading to spermatogenic arrest | OMIM 618453; PMID 25533955 |
| Lung adenocarcinoma | Overexpression of HORMAD1 correlates with poor prognosis and immune evasion | PMID 31570877 |
| Breast cancer | HORMAD1 upregulation associated with DNA repair defects and sensitivity to PARP inhibitors | PMID 29087314 |
| Ovarian cancer | Aberrant expression as cancer/testis antigen; potential immunotherapeutic target | PMID 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Fallopian tube | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
| Lung | 0.1 | Not detected |
| Breast | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H1299 (lung cancer) | 0.5 | Low expression |
| MCF7 (breast cancer) | 0.2 | Low expression |
| OVCAR-3 (ovarian cancer) | 0.3 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; rare in population |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Predicted loss of function via nonsense-mediated decay |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants are predicted to cause loss of HORMAD1 function, impairing meiotic synapsis.
Gain of Function (GOF)
No gain-of-function mutations reported in HORMAD1.
Dominant Negative (DN)
No dominant-negative mutations reported in HORMAD1.
View complete mutation data：
Gene Ontology (GO)
| • condensed nuclear chromosome (GO:0000794) | • nucleus (GO:0005634) |
| • reciprocal meiotic recombination (GO:0007131) | • synapsis (GO:0007129) |
| • replication fork protection (GO:0048478) | • protein binding (GO:0005515) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
• Homology directed repair (Reactome: R-HSA-5693538)
Protein Summary
HORMAD1 is a 305-amino acid protein containing a conserved HORMA domain that mediates protein-protein interactions during meiosis. It localizes to unsynapsed chromosome axes and is required for the pachytene checkpoint and crossover formation. In cancer, HORMAD1 re-expression may promote DNA damage tolerance and immune escape.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HORMAD1 Knockout HEK293 Cell Line | EDJ-KQ9967 | Human | 84072 | Details Get a Quote |
| HORMAD1 Knockout A-549 Cell Line | EDJ-KQ36896 | Human | 84072 | Details Get a Quote |
| HORMAD1 Knockout HeLa Cell Line | EDJ-KQ36897 | Human | 84072 | Details Get a Quote |
| HORMAD1 Knockout HCT 116 Cell Line | EDJ-KQ74449 | Human | 84072 | Details Get a Quote |
