HP1BP3
Heterochromatin Protein 1 Binding Protein 3
Gene Information Card
| Symbol | HP1BP3 |
|---|---|
| Full Name | Heterochromatin Protein 1 Binding Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 50809 ncbi.nlm.nih.gov/gene/50809 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q5SSJ5 |
| OMIM ID | 616674 |
| HGNC ID | 24959 |
| Aliases | HP1-BP3, HP1BP3, HMG20C |
Description
HP1BP3 encodes a protein that binds heterochromatin protein 1 (HP1) and is involved in chromatin organization and gene regulation. It is a member of the high-mobility group (HMG) protein family and plays a role in heterochromatin formation and maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
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 function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • chromatin binding (GO:0003682) |
| • chromatin organization (GO:0006325) | • protein binding (GO:0005515) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
Protein Summary
HP1BP3 is a 170-amino acid protein containing an HMG-box domain that mediates binding to heterochromatin protein 1 (HP1). It localizes to the nucleus and is implicated in chromatin compaction and transcriptional repression. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HP1BP3 Knockout HEK293 Cell Line | EDJ-KQ10813 | Human | 50809 | Details Get a Quote |
| HP1BP3 Knockout A-549 Cell Line | EDJ-KQ38462 | Human | 50809 | Details Get a Quote |
| HP1BP3 Knockout HCT 116 Cell Line | EDJ-KQ38463 | Human | 50809 | Details Get a Quote |
| HP1BP3 Knockout HeLa Cell Line | EDJ-KQ38464 | Human | 50809 | Details Get a Quote |
