HHLA1 (HERV-H LTR-Associating 1)
A primate-specific long non-coding RNA gene with potential roles in placental development and cancer.
Gene Information Card
| Symbol | HHLA1 |
|---|---|
| Full Name | HERV-H LTR-Associating 1 |
| Gene Type | non-coding RNA (lncRNA) |
| Chromosomal Location | 8q24.22 |
| NCBI Gene ID | 100128731 ncbi.nlm.nih.gov/gene/100128731 |
| Ensembl ID | ENSG00000214756 |
| UniProt ID | Not applicable (non-coding) |
| OMIM ID | Not available |
| HGNC ID | HGNC:4906 |
| Aliases | HERV-H LTR-associating 1, HERV-H LTR-associated 1 |
Description
HHLA1 (HERV-H LTR-Associating 1) is a primate-specific long non-coding RNA (lncRNA) gene located on chromosome 8q24.22. It is transcribed from a HERV-H long terminal repeat (LTR) element and is thought to play roles in placental development and immune modulation. HHLA1 expression has been detected in various tissues and is dysregulated in certain cancers, suggesting potential involvement in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Placental development disorders | Potential role in trophoblast differentiation and immune tolerance at the maternal-fetal interface | Limited; inferred from expression patterns and evolutionary conservation |
| Colorectal cancer | Overexpression may contribute to tumor progression via lncRNA-mediated pathways | Limited; reported in some expression profiling studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 0.5 | Low |
| Testis | 0.3 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.2 | Low expression |
| HeLa | 0.1 | Not detected |
| JEG-3 (placental) | 0.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants in COSMIC or ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not applicable; no functional protein product.
Gain of Function (GOF)
Not applicable; no functional protein product.
Dominant Negative (DN)
Not applicable; no functional protein product.
View complete mutation data：
Protein Summary
HHLA1 does not encode a protein; it is a long non-coding RNA (lncRNA) gene. Its functional product is the RNA transcript itself, which may regulate gene expression through mechanisms such as chromatin remodeling or transcriptional interference.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HHLA1 Knockout HEK293 Cell Line | EDJ-KQ6892 | Human | 10086 | Details Get a Quote |
| HHLA1 Knockout HeLa Cell Line | EDJ-KQ55313 | Human | 10086 | Details Get a Quote |
| HHLA1 Knockout A-549 Cell Line | EDJ-KQ63796 | Human | 10086 | Details Get a Quote |
| HHLA1 Knockout HCT 116 Cell Line | EDJ-KQ72255 | Human | 10086 | Details Get a Quote |
