HYPK: Huntingtin Interacting Protein K
A multifunctional protein involved in protein quality control, apoptosis, and transcriptional regulation
Gene Information Card
| Symbol | HYPK |
|---|---|
| Full Name | Huntingtin Interacting Protein K |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 25764 ncbi.nlm.nih.gov/gene/25764 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9NX55 |
| OMIM ID | 617984 |
| HGNC ID | 18074 |
| Aliases | HSPC136, NAA15-16, NAA15-16 complex subunit, Huntingtin interacting protein K |
Description
HYPK (Huntingtin Interacting Protein K) encodes a protein that interacts with huntingtin (HTT) and is involved in protein quality control, apoptosis, and transcriptional regulation. It is a component of the NatA N-terminal acetyltransferase complex and plays a role in cellular stress responses. The gene is located on chromosome 15q15.1 and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Interaction with HTT; modulation of polyglutamine toxicity | OMIM 617984; PubMed studies |
| Cancer (various) | Dysregulation of apoptosis and cell cycle; potential tumor suppressor | COSMIC; PubMed studies |
| Neurodegenerative disorders | Protein aggregation and quality control | PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Low |
| Kidney | 11.3 | Low |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.1 | High expression |
| HeLa | 14.5 | Medium expression |
| SH-SY5Y | 16.3 | Medium-high expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Alters start codon; potential loss of function |
| c.100C>T | Nonsense | Rare | Premature stop; loss of function |
| c.200_201insA | Frameshift | Rare | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing NatA complex function and cellular stress response.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) | • apoptotic process (GO:0006915) |
| • N-terminal protein amino acid acetylation (GO:0006474) | • ubiquitin-dependent ERAD pathway (GO:0030433) |
| • unfolded protein binding (GO:0051082) |
Pathways
• N-terminal acetylation (NatA complex)
• Apoptosis
• Protein processing in endoplasmic reticulum
• Huntington disease
Protein Summary
HYPK is a 15 kDa protein that interacts with huntingtin and is a subunit of the NatA N-terminal acetyltransferase complex. It is involved in protein quality control, apoptosis, and transcriptional regulation. The protein is ubiquitously expressed and localizes to both cytoplasm and nucleus. Mutations in HYPK are rare and may contribute to neurodegenerative and cancer phenotypes.
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