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PYHIN1 Gene(Protein Coding)

Pyrin And HIN Domain Family Member 1

GCID:
GC01P158900
GIFtS:
44
Genes Participants
UDN Logo

Aliases for PYHIN1 Gene

Aliases for PYHIN1 Gene

  • Pyrin And HIN Domain Family Member 1 2 3 5
  • Interferon-Inducible Protein X 3 4
  • IFIX 3 4
  • Pyrin And HIN Domain-Containing Protein 1 3
  • Pyrin And HIN Domain Family, Member 1 2

External Ids for PYHIN1 Gene

Previous GeneCards Identifiers for PYHIN1 Gene

  • GC01P155715
  • GC01P157167
  • GC01P130258

Summaries for PYHIN1 Gene

Entrez Gene Summary for PYHIN1 Gene

  • 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]

GeneCards Summary for PYHIN1 Gene

PYHIN1 (Pyrin And HIN Domain Family Member 1) is a Protein Coding gene. Diseases associated with PYHIN1 include Diffuse Scleroderma and Limited Scleroderma. An important paralog of this gene is IFI16.

UniProtKB/Swiss-Prot for PYHIN1 Gene

  • Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells.

Additional gene information for PYHIN1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PYHIN1 Gene

Genomics for PYHIN1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PYHIN1 Gene

Promoters and enhancers for PYHIN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I158929 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 550.8 +0.3 300 2.9 SRF PYHIN1 ACKR1 PIR57461
GH01I159004 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.4 +80.3 80276 12.6 HDGF PKNOX1 ATF1 SMAD1 IRF4 YY1 TCF12 ZNF766 ZNF207 ATF7 IFI16 OR6N2 CADM3-AS1 RAD1P2 ACKR1 AIM2 PYHIN1 GC01M159011
GH01I158818 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -111.4 -111361 2.1 PKNOX1 SMAD1 ATF1 ARNT NCOA2 TCF12 ZNF766 GATA2 E2F8 FOS MNDA CD1D PYHIN1 IFI16 OR10AA1P
GH01I158997 Enhancer 0.4 ENCODE dbSUPER 4.4 +66.4 66410 0.2 PYHIN1 IFI16 PIR57461
GH01I158800 Enhancer 1 FANTOM5 Ensembl dbSUPER 1.7 -128.5 -128495 4.2 MAFG REST ZBTB40 ZNF592 ZNF316 MAFF EMSY MAFK MNDA OR6N1 OR6N2 PYHIN1 IFI16 OR10AA1P OR2AQ1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PYHIN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PYHIN1 gene promoter:

Genomic Locations for PYHIN1 Gene

Genomic Locations for PYHIN1 Gene
chr1:158,930,796-158,988,872
(GRCh38/hg38)
Size:
58,077 bases
Orientation:
Plus strand
chr1:158,900,586-158,946,844
(GRCh37/hg19)

Genomic View for PYHIN1 Gene

Genes around PYHIN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PYHIN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PYHIN1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PYHIN1 Gene

Proteins for PYHIN1 Gene

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  • Protein details for PYHIN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6K0P9-IFIX_HUMAN
    Recommended name:
    Pyrin and HIN domain-containing protein 1
    Protein Accession:
    Q6K0P9
    Secondary Accessions:
    • Q5T3W6
    • Q6K0P6
    • Q6K0P7
    • Q6K0P8
    • Q8WW65

    Protein attributes for PYHIN1 Gene

    Size:
    492 amino acids
    Molecular mass:
    55065 Da
    Quaternary structure:
    • Interacts with MDM2.

    Alternative splice isoforms for PYHIN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PYHIN1 Gene

Protein Expression for PYHIN1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PYHIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PYHIN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PYHIN1 Gene

Domains & Families for PYHIN1 Gene

Gene Families for PYHIN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PYHIN1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PYHIN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6K0P9

UniProtKB/Swiss-Prot:

IFIX_HUMAN :
  • The HIN-200 domain mediates interaction with MDM2.
  • Belongs to the HIN-200 family.
Domain:
  • The HIN-200 domain mediates interaction with MDM2.
Family:
  • Belongs to the HIN-200 family.
genes like me logo Genes that share domains with PYHIN1: view

Function for PYHIN1 Gene

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  2. CRISPR
  3. miRNA
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Molecular function for PYHIN1 Gene

UniProtKB/Swiss-Prot Function:
Major mediator of the tumor suppressor activity of IFN in breast cancer cells. Promotes ubiquitination and subsequent degradation of MDM2, which leads to p53/TP53 stabilization. Promotes ubiquitination and subsequent degradation of HDAC1, which in turn enhances maspin expression, and impairs invasive activity of cancer cells.
UniProtKB/Swiss-Prot Induction:
By IFN-alphas and IFNG/IFN-gamma in hematopoietic cancer cells.

Phenotypes From GWAS Catalog for PYHIN1 Gene

Gene Ontology (GO) - Molecular Function for PYHIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031625 ubiquitin protein ligase binding IPI 16479015
genes like me logo Genes that share ontologies with PYHIN1: view
genes like me logo Genes that share phenotypes with PYHIN1: view

Animal Model Products

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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PYHIN1 Gene

Localization for PYHIN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PYHIN1 Gene

Isoform 1: Nucleus, nucleoplasm.
Isoform 3: Nucleus, nucleoplasm.
Isoform 5: Nucleus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PYHIN1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PYHIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IEA --
GO:0016607 nuclear speck IEA --
GO:0043234 protein complex IMP 16479015
genes like me logo Genes that share ontologies with PYHIN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PYHIN1 Gene

Pathways & Interactions for PYHIN1 Gene

SuperPathways for PYHIN1 Gene

PathCards logo More details on SuperPathways for PYHIN1
No Data Available

Gene Ontology (GO) - Biological Process for PYHIN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0031648 protein destabilization IMP 16479015
GO:0035457 cellular response to interferon-alpha IMP 16479015
GO:0043388 positive regulation of DNA binding IDA 16479015
GO:0045893 positive regulation of transcription, DNA-templated IDA 16479015
genes like me logo Genes that share ontologies with PYHIN1: view

No data available for Pathways by source and SIGNOR curated interactions for PYHIN1 Gene

Drugs & Compounds for PYHIN1 Gene

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  1. Drug
No Compound Related Data Available

Transcripts for PYHIN1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PYHIN1 Gene

(8) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(403) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PYHIN1 Gene

Pyrin and HIN domain family, member 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PYHIN1 Gene

No ASD Table

Relevant External Links for PYHIN1 Gene

GeneLoc Exon Structure for
PYHIN1
ECgene alternative splicing isoforms for
PYHIN1

Expression for PYHIN1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PYHIN1 Gene

mRNA expression in normal human tissues for PYHIN1 Gene
mRNA expression by GTEx for PYHIN1 GenemRNA expression by BioGPS for PYHIN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PYHIN1 Gene

This gene is overexpressed in Whole Blood (x23.0) and Spleen (x5.9).

Protein differential expression in normal tissues from HIPED for PYHIN1 Gene

This gene is overexpressed in NK cells (22.6), CD8 Tcells (20.8), Peripheral blood mononuclear cells (15.2), and CD4 Tcells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PYHIN1 Gene



Protein tissue co-expression partners for PYHIN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PYHIN1 Gene:

PYHIN1

SOURCE GeneReport for Unigene cluster for PYHIN1 Gene:

Hs.745322

mRNA Expression by UniProt/SwissProt for PYHIN1 Gene:

Q6K0P9-IFIX_HUMAN
Tissue specificity: Expressed in spleen, lymph node and peripheral blood leukocytes, and at lower levels in thymus, bone marrow and fetal liver. Down-regulated in breast tumors.

Evidence on tissue expression from TISSUES for PYHIN1 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with PYHIN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PYHIN1 Gene

Orthologs for PYHIN1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PYHIN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PYHIN1 33 34
  • 99.24 (n)
mouse
(Mus musculus)
 Mammalia Pydc4 34
  • 46 (a)
 ManyToMany
Pyhin1 34
  • 35 (a)
 ManyToMany
Ifi203 34
  • 33 (a)
 ManyToMany
Ifi202b 34
  • 19 (a)
 ManyToMany
Pydc3 34
  • 16 (a)
 ManyToMany
Gm4955 34
  • 15 (a)
 ManyToMany
AI607873 34
  • 15 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia -- 34
  • 31 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 27 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia -- 34
  • 21 (a)
 ManyToMany
Species where no ortholog for PYHIN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PYHIN1 Gene

ENSEMBL:
Gene Tree for PYHIN1 (if available)
TreeFam:
Gene Tree for PYHIN1 (if available)

Paralogs for PYHIN1 Gene

Paralogs for PYHIN1 Gene

(2) SIMAP similar genes for PYHIN1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for PYHIN1 Gene

genes like me logo Genes that share paralogs with PYHIN1: view

Variants for PYHIN1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PYHIN1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs193920831 uncertain-significance, Malignant tumor of prostate 158,941,999(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000009592 -- 158,986,313(+) G/C genic_downstream_transcript_variant, intron_variant
rs1000062422 -- 158,999,364(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000155565 -- 158,947,315(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000176095 -- 158,989,381(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PYHIN1 Gene

Variant ID Type Subtype PubMed ID
esv3587688 CNV loss 21293372
nsv1002401 CNV loss 25217958
nsv1007597 CNV loss 25217958
nsv518819 CNV loss 19592680
nsv525964 CNV loss 19592680

Variation tolerance for PYHIN1 Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PYHIN1 Gene

Human Gene Mutation Database (HGMD)
PYHIN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PYHIN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PYHIN1 Gene

Disorders for PYHIN1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PYHIN1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
diffuse scleroderma
  • systemic scleroderma
limited scleroderma
  • limited cutaneous systemic sclerosis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PYHIN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PYHIN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PYHIN1 Gene

Publications for PYHIN1 Gene

  1. Antitumor activity of IFIX, a novel interferon-inducible HIN-200 gene, in breast cancer. (PMID: 15122330) Ding Y … Yan DH (Oncogene 2004) 2 3 4 22 58
  2. Interferon-inducible protein IFIXalpha1 functions as a negative regulator of HDM2. (PMID: 16479015) Ding Y … Yan DH (Molecular and cellular biology 2006) 3 4 22 58
  3. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. (PMID: 21804549) Torgerson DG … Nicolae DL (Nature genetics 2011) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus. (PMID: 20595294) Kimkong I … Hirankarn N (The Journal of rheumatology 2010) 3 44 58

Products for PYHIN1 Gene

Sources for PYHIN1 Gene

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