PYHIN1
Pyrin and HIN domain family member 1
Gene Information Card
| Symbol | PYHIN1 |
|---|---|
| Full Name | Pyrin and HIN domain family member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.1 |
| NCBI Gene ID | 149628 ncbi.nlm.nih.gov/gene/149628 |
| Ensembl ID | ENSG00000163564 |
| UniProt ID | Q6W4X9 |
| OMIM ID | 610332 |
| HGNC ID | 30091 |
| Aliases | IFIX, PYHIN1, pyrin and HIN domain family member 1 |
Description
PYHIN1 (pyrin and HIN domain family member 1) is a protein-coding gene located on chromosome 1q23.1. It belongs to the PYHIN family of interferon-inducible proteins, characterized by an N-terminal pyrin domain (PYD) and one or two C-terminal HIN-200 domains. PYHIN1 functions as a DNA sensor involved in innate immune responses, recognizing cytosolic double-stranded DNA and modulating inflammasome activation and interferon signaling. It is also implicated in transcriptional regulation and has been associated with susceptibility to autoimmune diseases and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Systemic lupus erythematosus | PYHIN1 variants may alter DNA sensing and interferon production, contributing to autoimmunity. | OMIM 610332; GWAS studies |
| Breast cancer | Differential expression of PYHIN1 isoforms may influence tumor immune surveillance. | COSMIC; literature review |
| Colorectal cancer | Epigenetic silencing of PYHIN1 has been observed in colorectal tumors. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Whole blood | 6.1 | Low |
| Bone marrow | 4.7 | Low |
| Lymph node | 3.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 5.2 | Leukemia cell line |
| HeLa | 2.1 | Cervical carcinoma |
| A549 | 1.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.302C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • double-stranded DNA binding |
| • protein homodimerization activity | • innate immune response |
| • cytosolic DNA sensing pathway | • nucleus |
| • cytoplasm |
Pathways
• Cytosolic DNA-sensing pathway
• Interferon signaling
Protein Summary
PYHIN1 encodes a 729-amino acid protein (UniProt Q6W4X9) with a pyrin domain (residues 1-90) and two HIN-200 domains (residues 200-350 and 400-550). It localizes to the nucleus and cytoplasm, binds double-stranded DNA, and modulates interferon regulatory factor (IRF) activation. Alternative splicing generates multiple isoforms with distinct functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PYHIN1 Knockout HEK293 Cell Line | EDJ-KQ3181 | Human | 149628 | Details Get a Quote |
| PYHIN1 Knockout HeLa Cell Line | EDJ-KQ58636 | Human | 149628 | Details Get a Quote |
| PYHIN1 Knockout A-549 Cell Line | EDJ-KQ67118 | Human | 149628 | Details Get a Quote |
| PYHIN1 Knockout HCT 116 Cell Line | EDJ-KQ75524 | Human | 149628 | Details Get a Quote |
