HPCAL1: Hippocalcin-Like 1
A calcium-binding protein involved in neuronal signaling and potential cancer biomarker.
Gene Information Card
| Symbol | HPCAL1 |
|---|---|
| Full Name | Hippocalcin-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.1 |
| NCBI Gene ID | 3241 ncbi.nlm.nih.gov/gene/3241 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | P37235 |
| OMIM ID | 600188 |
| HGNC ID | 5155 |
| Aliases | BDR1, HLP, VILIP-3, VILIP3 |
Description
HPCAL1 (hippocalcin-like 1) is a protein-coding gene that belongs to the neuronal calcium sensor (NCS) family. It encodes a calcium-binding protein that modulates intracellular calcium signaling, particularly in neurons. HPCAL1 is involved in synaptic plasticity, neuronal development, and may play a role in cancer progression through calcium-dependent pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of HPCAL1 may promote cell proliferation and migration via calcium signaling dysregulation. | COSMIC: observed in breast cancer samples; limited functional studies. |
| Colorectal cancer | Altered expression linked to tumor progression; potential biomarker. | NCBI Gene: expression changes noted in colorectal tumors. |
| Retinitis pigmentosa | Possible involvement due to calcium dysregulation in photoreceptor cells. | OMIM: no direct association; speculative based on family member function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cerebral cortex | 15.3 | Medium |
| Cerebellum | 10.8 | Medium |
| Heart | 4.2 | Low |
| Liver | 1.1 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 6.2 | Moderate expression |
| MCF7 (breast cancer) | 9.8 | Overexpressed in some breast cancer lines |
| HCT116 (colorectal cancer) | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236A>G (p.Asn79Ser) | Missense | <0.1% | Unknown; rare variant in population databases |
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown; predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • calcium-dependent phospholipid binding |
| • visual perception | • synaptic transmission |
| • dopaminergic | • regulation of calcium-mediated signaling |
Pathways
• Calcium signaling pathway
• Neuronal system
Protein Summary
HPCAL1 encodes a 193-amino-acid protein (hippocalcin-like 1) with three EF-hand calcium-binding domains. It belongs to the visinin-like protein (VILIP) subfamily of neuronal calcium sensors. The protein undergoes calcium-dependent conformational changes and interacts with membranes and target proteins to regulate neuronal signaling. It is highly expressed in the brain and retina, with lower levels in other tissues. HPCAL1 may also be implicated in cancer cell proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPCAL1 Knockout HEK293 Cell Line | EDJ-KQ50363 | Human | 3241 | Details Get a Quote |
| HPCAL1 Knockout HeLa Cell Line | EDJ-KQ53565 | Human | 3241 | Details Get a Quote |
| HPCAL1 Knockout A-549 Cell Line | EDJ-KQ62032 | Human | 3241 | Details Get a Quote |
| HPCAL1 Knockout HCT 116 Cell Line | EDJ-KQ70512 | Human | 3241 | Details Get a Quote |
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