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Aliases for PYHIN1 Gene

Aliases for PYHIN1 Gene

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

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 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.

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

Genomics for PYHIN1 Gene

Regulatory Elements for PYHIN1 Gene

Genomic Location for PYHIN1 Gene

Chromosome:
1
Start:
158,930,796 bp from pter
End:
158,988,872 bp from pter
Size:
58,077 bases
Orientation:
Plus strand

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 StructureGene Density

RefSeq DNA sequence for PYHIN1 Gene

Proteins for PYHIN1 Gene

  • 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

neXtProt entry for PYHIN1 Gene

Proteomics data for PYHIN1 Gene at MOPED

Post-translational modifications for PYHIN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PYHIN1 Gene

Domains & Families for PYHIN1 Gene

Protein Domains for PYHIN1 Gene

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.
  • Contains 1 HIN-200 domain.
  • Contains 1 pyrin domain.
Family:
  • Belongs to the HIN-200 family.
genes like me logo Genes that share domains with PYHIN1: view

Function for PYHIN1 Gene

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.
genes like me logo Genes that share phenotypes with PYHIN1: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PYHIN1 Gene COMPARTMENTS Subcellular localization image for PYHIN1 gene
Compartment Confidence
nucleus 5
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for PYHIN1 Gene

Pathways & Interactions for PYHIN1 Gene

SuperPathways for PYHIN1 Gene

No Data Available

Interacting Proteins for PYHIN1 Gene

Gene Ontology (GO) - Biological Process for PYHIN1 Gene

None

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

Drugs & Compounds for PYHIN1 Gene

No Compound Related Data Available

Transcripts for PYHIN1 Gene

Unigene Clusters for PYHIN1 Gene

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

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

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with PYHIN1: view

Protein tissue co-expression partners for PYHIN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 35
  • 99.24 (n)
  • 98.76 (a)
PYHIN1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 31 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 36
  • 21 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia AI607873 36
  • 15 (a)
ManyToMany
Gm4955 36
  • 15 (a)
ManyToMany
Ifi202b 36
  • 19 (a)
ManyToMany
Ifi203 36
  • 33 (a)
ManyToMany
Pydc3 36
  • 16 (a)
ManyToMany
Pydc4 36
  • 46 (a)
ManyToMany
Pyhin1 36
  • 35 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 27 (a)
OneToMany
Species with no ortholog for PYHIN1:
  • 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

Sequence variations from dbSNP and Humsavar for PYHIN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs856070 -- 158,960,008(-) AGAAA(C/T)GAATG intron-variant
rs856071 -- 158,960,711(-) TTAAC(A/T)TAACA intron-variant
rs856079 -- 158,940,368(-) ACTTC(C/T)CTTTG intron-variant, downstream-variant-500B
rs856080 -- 158,940,404(-) TTTCC(C/T)AAACT intron-variant, downstream-variant-500B
rs856081 -- 158,942,658(-) AGTCA(C/T)AGCTG intron-variant

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

Variant ID Type Subtype PubMed ID
dgv395n71 CNV Gain 21882294
nsv525964 CNV Loss 19592680
nsv518819 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)

Relevant External Links for PYHIN1 Gene

HapMap Linkage Disequilibrium report
PYHIN1

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

Disorders for PYHIN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PYHIN1 Gene - From: DISEASES

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

Relevant External Links for PYHIN1

Genetic Association Database (GAD)
PYHIN1
Human Genome Epidemiology (HuGE) Navigator
PYHIN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PYHIN1
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 D.-H. (Oncogene 2004) 2 3 4 23 67
  2. Interferon-inducible protein IFIXalpha1 functions as a negative regulator of HDM2. (PMID: 16479015) Ding Y. … Yan D.-H. (Mol. Cell. Biol. 2006) 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. (PMID: 21804549) Torgerson D.G. … Nicolae D.L. (Nat. Genet. 2011) 3
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3

Products for PYHIN1 Gene

Sources for PYHIN1 Gene

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