HS1BP3 Gene
HCLS1 Binding Protein 3
Gene Information Card
| Symbol | HS1BP3 |
|---|---|
| Full Name | HCLS1 Binding Protein 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 64342 ncbi.nlm.nih.gov/gene/64342 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q53T94 |
| OMIM ID | 609359 |
| HGNC ID | 24979 |
| Aliases | HSPC242, FLJ11184 |
Description
HS1BP3 (HCLS1 Binding Protein 3) is a protein-coding gene located on chromosome 2p23.3. The encoded protein interacts with HCLS1 (hematopoietic lineage cell-specific protein 1) and is involved in cytoskeletal organization and signal transduction. HS1BP3 is expressed in multiple tissues and may play a role in hematopoietic cell function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Lung | 8.1 | Medium |
| Brain | 6.3 | Low |
| Heart | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.3 | Leukemia cell line |
| HEK 293 | 9.8 | Embryonic kidney |
| HeLa | 7.2 | Cervical cancer |
| HepG2 | 6.5 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported in COSMIC or ClinVar.
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)
| • protein binding | • cytoskeleton |
| • signal transduction | • hematopoietic lineage cell-specific protein 1 binding |
Pathways
• HCLS1 signaling pathway
• Cytoskeletal regulation
Protein Summary
HS1BP3 encodes a 361-amino acid protein that binds to HCLS1, a key regulator of actin dynamics in hematopoietic cells. The protein is localized in the cytoplasm and may modulate cell migration and adhesion. Its precise biological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HS1BP3 Knockout HEK293 Cell Line | EDJ-KQ13780 | Human | 64342 | Details Get a Quote |
| HS1BP3 Knockout A-549 Cell Line | EDJ-KQ43563 | Human | 64342 | Details Get a Quote |
| HS1BP3 Knockout HCT 116 Cell Line | EDJ-KQ43564 | Human | 64342 | Details Get a Quote |
| HS1BP3 Knockout HeLa Cell Line | EDJ-KQ43565 | Human | 64342 | Details Get a Quote |
