PYHIN1 - pyrin and HIN domain family member 1 Gene

Also Known as IFIX

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 149628

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 References Source
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
16479015 GOA
Biological Process GO Annotation Evidence References 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 References 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

PYRIN: PAAD/DAPIN/Pyrin domain (6 - 84)

HIN

HIN: HIN-200/IF120x domain (212 - 380)

  • 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

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 Set / Unkown

Orthologs Information

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