Basic Information

Symbol
PYHIN1
RNA class
mRNA
Alias
Pyrin And HIN Domain Family Member 1 IFIX Pyrin And HIN Domain-Containing Protein 1 Interferon-Inducible Protein X MGC23885 Pyrin And HIN Domain Family, Member 1
Location (GRCh38)
1:158930796-158977059
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_152501.5
Sequence length
2088.0 nt
GC content
0.3807

Transcripts

ID Sequence Length GC content
NM_001410886.1 NCBI
AGAGUAUGAGGAAGCCAGCACUAGUCAAGUGACUCUAAGAAGGGCCAUU… 2537 nt 0.3942
NM_152501.5 NCBI
AGAGUAUGAGGAAGCCAGCACUAGUCAAGUGACUCUAAGAAGGGCCAUU… 2088 nt 0.3807
NM_198928.5 NCBI
AGAGUAUGAGGAAGCCAGCACUAGUCAAGUGACUCUAAGAAGGGCCAUU… 2061 nt 0.3819
NM_198929.5 NCBI
AGAGUAUGAGGAAGCCAGCACUAGUCAAGUGACUCUAAGAAGGGCCAUU… 1963 nt 0.3729
NM_198930.4 NCBI
AGAGUAUGAGGAAGCCAGCACUAGUCAAGUGACUCUAAGAAGGGCCAUU… 1936 nt 0.3740
Summary

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Forensic Context

A study in humans identified the PYHIN1 as a potential biomarker significantly associated with 28-day mortality in sepsis patients through Mendelian randomization analysis from a low-risk, downregulated gene list, though it was not selected for further study as it was not both a low-risk gene and a significant susceptibility gene [Li et al. DOI:10.1038/s41598-025-99619-z].