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    PYHIN1 pyrin and HIN domain family, member 1 [ Homo sapiens ]

    Gene ID: 149628, updated on 11-May-2012
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    Summary

    Official Symbol
    PYHIN1provided by HGNC
    Official Full Name
    pyrin and HIN domain family, member 1provided by HGNC
    Primary source
    HGNC:28894
    See related
    Ensembl:ENSG00000163564; HPRD:09999; MIM:612677; Vega:OTTHUMG00000037109
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IFIX; MGC23885; RP11-520H16.1
    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]
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    Genomic context

    Location :
    1q23.1
    Sequence :
    Chromosome: 1; NC_000001.10 (158901342..158946844)
    See PYHIN1 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene myeloid cell nuclear differentiation antigen Neighboring gene pyrin and HIN domain family, member 1 pseudogene Neighboring gene interferon, gamma-inducible protein 16 Neighboring gene absent in melanoma 2

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus. Kimkong I, et al. J Rheumatol, 2010 Jul. PMID 20595294.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. Interferon-inducible protein IFIXalpha inhibits cell invasion by upregulating the metastasis suppressor maspin. Yamaguchi H, et al. Mol Carcinog, 2008 Oct. PMID 18247378.
    4. Interferon-inducible protein IFIXalpha1 functions as a negative regulator of HDM2. Ding Y, et al. Mol Cell Biol, 2006 Mar. PMID 16479015.
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. IFIXalpha suppressed the invasion activity of MDA-MB-468 breast cancer cells, and its inhibitory effect was reversed by the knockdown of maspin
      Title: Interferon-inducible protein IFIXalpha inhibits cell invasion by upregulating the metastasis suppressor maspin.
    4. a new member of the hematopoietic interferon (IFN)-inducible nuclear protein. Six different alternatively spliced forms are transcribed from the IFIX gene
      Title: Antitumor activity of IFIX, a novel interferon-inducible HIN-200 gene, in breast cancer.
    5. IFIX alpha1 isoform functions as a tumor suppressor by repressing HDM2 function
      Title: Interferon-inducible protein IFIXalpha1 functions as a negative regulator of HDM2.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:127225 BioGRID:110358 MDM2    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    pyrin and HIN domain-containing protein 1
    Names
    pyrin and HIN domain-containing protein 1
    interferon-inducible protein X
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029756.1 RefSeqGene

      Range
      5001..50513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152501.4 → NP_689714.2  pyrin and HIN domain-containing protein 1 isoform alpha 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (alpha 1).
      Source sequence(s)
      AW518129, AY185344, BC073133, DB188734
      Consensus CDS
      CCDS1178.1
      UniProtKB/Swiss-Prot
      Q6K0P9
      Related
      ENSP00000357122, OTTHUMP00000035198, ENST00000368140, OTTHUMT00000090110
      Conserved Domains (2) summary
      cd08305
      Location:10 – 83
      Blast Score: 249
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:211 – 370
      Blast Score: 584
      HIN; HIN-200/IF120x domain

    2. NM_198928.4 → NP_945146.1  pyrin and HIN domain-containing protein 1 isoform alpha 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame acceptor splice site at an internal coding exon compared to variant 1. This results in a shorter isoform (alpha 2) missing a 9 aa protein segment compared to isoform alpha 1.
      Source sequence(s)
      AW518129, AY185345, BC073133, DB188734
      Consensus CDS
      CCDS1179.1
      UniProtKB/Swiss-Prot
      Q6K0P9
      Related
      ENSP00000357120, OTTHUMP00000035199, ENST00000368138, OTTHUMT00000090111
      Conserved Domains (2) summary
      cd08305
      Location:10 – 83
      Blast Score: 249
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:202 – 361
      Blast Score: 585
      HIN; HIN-200/IF120x domain

    3. NM_198929.4 → NP_945147.1  pyrin and HIN domain-containing protein 1 isoform beta 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks the penultimate exon compared to variant 1. This results in a frame-shift, and a shorter isoform (beta 1) with a distinct C-terminus compared to isoform alpha 1.
      Source sequence(s)
      AW518129, AY185346, BC073133, DB188734
      Consensus CDS
      CCDS30907.1
      UniProtKB/Swiss-Prot
      Q6K0P9
      Related
      ENSP00000376083, OTTHUMP00000035200, ENST00000392254, OTTHUMT00000090112
      Conserved Domains (2) summary
      cd08305
      Location:10 – 83
      Blast Score: 242
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:211 – 370
      Blast Score: 574
      HIN; HIN-200/IF120x domain

    4. NM_198930.3 → NP_945148.1  pyrin and HIN domain-containing protein 1 isoform beta 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate, in-frame acceptor splice site at an internal coding exon, and lacks the penultimate exon compared to variant 1. This results in a frame-shift, and a shorter isoform (beta 2) missing a 9 aa protein segment in the 5' coding region, and with a distinct C-terminus compared to isoform alpha 1.
      Source sequence(s)
      AW518129, AY185347, BC073133, DB188734
      Consensus CDS
      CCDS30908.1
      UniProtKB/Swiss-Prot
      Q6K0P9
      Related
      ENSP00000376082, OTTHUMP00000035201, ENST00000392252, OTTHUMT00000090113
      Conserved Domains (2) summary
      cd08305
      Location:10 – 83
      Blast Score: 241
      Pyrin; Pyrin: a protein-protein interaction domain
      pfam02760
      Location:202 – 361
      Blast Score: 575
      HIN; HIN-200/IF120x domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      158901342..158946844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      130258719..130304145
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL359753.9 CAI15075.1
      CAI15076.1
      CAI15077.1
      CAI15078.1
      CAI15079.1
      CAI15080.1
    mRNA AK024890.1 None
    mRNA AK308350.1 None
    mRNA AW518129.1 None
    mRNA AY185344.1 AAO67506.1
    mRNA AY185345.1 AAO67507.1
    mRNA AY185346.1 AAO67508.1
    mRNA AY185347.1 AAO67509.1
    mRNA BC020822.1 AAH20822.1
    mRNA BC073133.1 None
    mRNA BC090944.1 AAH90944.1
    mRNA BC114470.1 None
    mRNA BC139741.1 AAI39742.1
    mRNA DB126431.1 None
    mRNA DB188734.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6K0P9.1 GenPept UniProtKB/Swiss-Prot:Q6K0P9
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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