PYHIN1 - pyrin and HIN domain family member 1 Gene

Homo sapiens

Also known as IFIX

Gene ID: 149628 | Gene type: protein coding

About PYHIN1

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:158,931,552-158,990,870 (from NCBI)

This gene has 7 transcripts (splice variants), 53 orthologues and 3 paralogues. Broad expression in lymph node (RPKM 3.0), spleen (RPKM 2.1) and 19 other tissues.

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]

PYHIN1 Products(5)

mRNA	Protein	Name
NM_001410886.1	NP_001397815.1	pyrin and HIN domain-containing protein 1 isoform gamma 1
NM_152501.5	NP_689714.2	pyrin and HIN domain-containing protein 1 isoform alpha 1
NM_198928.5	NP_945146.1	pyrin and HIN domain-containing protein 1 isoform alpha 2
NM_198929.5	NP_945147.1	pyrin and HIN domain-containing protein 1 isoform beta 1
NM_198930.4	NP_945148.1	pyrin and HIN domain-containing protein 1 isoform beta 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	16479015	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to interferon-alpha	IMP IMP: Inferred from mutant phenotype	16479015	GOA
involved in positive regulation of DNA binding	IDA IDA: Inferred from direct assay	16479015	GOA
involved in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA IDA: Inferred from direct assay	16479015	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	16479015	GOA
involved in positive regulation of protein localization to nucleus	IDA IDA: Inferred from direct assay	16479015	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	18247378	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	16479015	GOA
involved in protein destabilization	IMP IMP: Inferred from mutant phenotype	16479015	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	16479015	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	16479015	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PYHIN1 Protein Structure

PYRIN

HIN

0
100
200
300
400
492 a.a.

Protein Preferred Names

Protein Names

pyrin and HIN domain-containing protein 1

interferon-inducible protein X

Related Diseases

Diseases

Alias

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11493	PYHIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PYHIN1	VGNC	VGNC:76558
Others	PYHIN1	NCBI

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