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PYHIN1 Gene

protein-coding   GIFtS: 44

GC01P157167
pyrin and HIN domain family, member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for PYHIN1

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
IFIX 1, 2, 3, 5
MGC23885 1, 2
OTTHUMP00000035198 2
OTTHUMP00000035199 2
RP11-520H16.1 2
Descriptions
Interferon-inducible protein X 2, 3
pyrin and HIN domain family, member 1 2
External Ids
HGNC: 288941
Entrez Gene: 1496282
UniProtKB: Q6K0P93
Ensembl: ENSG000001635647
Search outside databases for aliases for PYHIN1 gene

Previous GC identifer: GC01P155715

Summaries
for PYHIN1

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for PYHIN1:
PYHIN1 belongs to the HIN200 family of interferon-inducible proteins that share a 200-amino acid
signature motif at their C-terminal ends. HIN200 proteins are primarily nuclear and are involved
in transcriptional regulation of genes important for cell cycle control, differentiation, and
apoptosis (Ding et al., 2006 [PubMed 16479015]).[supplied by OMIM]

UniProtKB/Swiss-Prot: IFIX_HUMAN, Q6K0P9
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

Genomic Location
for PYHIN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PYHIN1 gene  

Entrez Gene cytogenetic band: 1q23.1   Ensembl cytogenetic band:  1q23.1   HGNC cytogenetic band: 1q23.1

PYHIN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P157167:     (about GC identifiers)

Start:
 157,167,966 bp from pter
End:
 157,213,468 bp from pter
Size:
 45,503 bases
Orientation:
 plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  

Proteins
for PYHIN1

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

 UniProtKB/Swiss-Prot: IFIX_HUMAN, Q6K0P9 (See protein sequence)
Recommended Name: Pyrin and HIN domain-containing protein 1  
Size: 492 amino acids; 55065 Da
Subunit: Interacts with MDM2
Subcellular location: Isoform 1: Nucleus, nucleoplasm
Subcellular location: Isoform 3: Nucleus, nucleoplasm
Subcellular location: Isoform 5: Nucleus. Nucleus speckle
Secondary accessions: Q5T3W6 Q6K0P6 Q6K0P7 Q6K0P8 Q8WW65
Alternative splicing: 6 isoforms:  Q6K0P9-1   Q6K0P9-2   Q6K0P9-3   Q6K0P9-4   Q6K0P9-5   Q6K0P9-6   

REFSEQ proteins (4 alternative transcripts): 
NP_689714.2  NP_945146.1  NP_945147.1  NP_945148.1  


ENSEMBL proteins: 
ENSP00000376083 ENSP00000376082 ENSP00000357120 ENSP00000357122 ENSP00000357117 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (PYHIN1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IEA--
GO:0016607 nuclear speck IEA--
About this table

Antibodies for PYHIN1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for PYHIN1

Assays for PYHIN1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for PYHIN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro domains/families:
 IPR004021 HIN200/IF120x
 IPR004020 Pyrin


   GeneDecks  PYHIN1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q6K0P9

ProtoNet protein and cluster: Q6K0P9

1 Blocks protein family: IPB004021 HIN-200/IF120x domain

UniProtKB/Swiss-Prot: IFIX_HUMAN, Q6K0P9
Domain: The HIN-200 domain mediates interaction with MDM2
Similarity: Belongs to the HIN-200 family
Similarity: Contains 1 DAPIN domain
Similarity: Contains 1 HIN-200 domain

Gene Function
for PYHIN1

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (PYHIN1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_198928

              Applied Biosystems Silencer® siRNAs for PYHIN1

              Sigma-Aldrich siRNA for PYHIN1  
                     Sigma-Aldrich shRNA for PYHIN1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for PYHIN1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_152501
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_152501
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_152501 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_152501

UniProtKB/Swiss-Prot: IFIX_HUMAN, Q6K0P9
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
Induction: By IFNalpha and IFNgamma in hematopoietic cancer cells

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding IEA--
About this table

Pathways & Interactions
for PYHIN1

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


  --

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0045786 negative regulation of cell cycle IEA--
About this table

Drugs & Compounds
for PYHIN1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PYHIN1

Transcripts
for PYHIN1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Invitrogen RNAi Products for gene knock-down (PYHIN1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_198928

              Sigma-Aldrich siRNA for PYHIN1  
                     Sigma-Aldrich shRNA for PYHIN1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_152501  NM_198928  NM_198929  NM_198930  

REFSEQ mRNAs for PYHIN1 gene (4 alternative transcripts): 

NM_152501.3   NM_198928.3   NM_198929.3   NM_198930.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_152501  NM_198928  NM_198929  NM_198930  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_152501
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_152501
                                 untagged cDNA clones in CMV expression vector (see all 5): NM_152501 

Additional cDNA sequence: 

AK024890.1 AK308350.1 AY185344.1 AY185345.1 AY185346.1 AY185347.1 BC020822.1 BC073133.1 
BC090944.1 BC114470.1 BC139741.1 

5 DOTS entries:

DT.75153787  DT.95301302  DT.101981776  DT.40255450  DT.97836235 

24/403 AceView cDNA sequences (see all 403 ):

AL711311 AI270774 BQ004288 BQ448467 CR621058 BP352007 BC020822 BU608536 
BF058420 AY185344 AW408127 T29910 AA169187 NM_152501 AY185347 CD252021 
BQ008879 BC073133 BX956270 AF086545 AA593188 AA715151 AW801462 BE349546 

highest scoring ESTs for PYHIN1:

AI827431 AW337474 AW518129 AY185344 AY185345 AY185346 AY185347 AA298048 AI962230 AK024890 

Unigene Cluster for PYHIN1:

Pyrin and HIN domain family, member 1
Hs.710248  [show with all ESTs]
Unigene Representative Sequence: NM_152501


GeneLoc Exon Structure

5 Ensembl transcripts including schematic representations:
ENST00000392254  ENST00000392252  ENST00000368138  ENST00000368140  ENST00000368135  

Expression
for PYHIN1

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PYHIN1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PYHIN1

1 / 2 / 3

5 probe-sets matching PYHIN1 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
73053_at2, 3 U95-D 1 0.69 1.00 1.00 1.00 AI827431 0.60 0.75 0.68 1

240413_at2, 3 U133-B 1 1.00 1.00 -- -- AI827431 0.60 0.75 0.68 1

216748_at2, 3 U133-A 1 1.00 1.00 -- -- AK024890 0.40 0.67 0.55 1

240413_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

216748_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  PYHIN1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GTGAAACACT

SOURCE GeneReport for Unigene cluster: Hs.710248

UniProtKB/Swiss-Prot: IFIX_HUMAN, Q6K0P9
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

Orthologs
for PYHIN1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for PYHIN1 gene from 1 species
Organism Gene Locus Description Human
Similarity		 NCBI accessions
chimpanzee
(Pan troglodytes)		 PYHIN11   -- pyrin and HIN domain family, member 1 99.24(n)
98.76(a)		 469842  XM_525227.2  XP_525227.2 
About this table        Species with no ortholog for PYHIN1

ENSEMBL Gene Tree for PYHIN1

Paralogs
for PYHIN1

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for PYHIN1 gene
AIM22  IFI162  MNDA2  

SNPs/Variants
for PYHIN1

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/288 NCBI SNPs in PYHIN1 are shown (see all 288 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 127)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
rs8561171,2
A,C,F,H,O157166224(+) GAAATG/AATTAC 4 -- ng517Minor allele frequency- A:0.16NA EU EA WA 538
rs8561181,2
A,C,F,H157166344(-) TAAGAT/GAGTAG 4 -- ng51 tfbs34Minor allele frequency- G:0.12EU EA WA 410
rs8561191,2
A,C,F,H157166371(-) GTTAAT/GGTAGA 4 -- ng517Minor allele frequency- G:0.17NA EU EA WA 560
--
rs8561231,2
A,C,F,H157166899(-) agaaaC/Acttgt 4 -- ng519Minor allele frequency- A:0.14MN EU EA WA 1022
rs27938561,2
A,F,H157213629(+) ccaaaT/Gaatcc 4 -- ng314Minor allele frequency- G:0.15EU EA WA 378
--
rs8561221,2
A,C,F157166805(-) GAAAAT/CGTGGG 4 -- ng511Minor allele frequency- C:0.30MN 184
rs8561151,2
C,F,H157166129(-) CATAAT/ACCATA 4 -- ng517Minor allele frequency- A:0.16NA EU EA WA 562
rs168413361,2
C,F,H157167751(+) AAGTCT/CGCTGG 4 -- ng51 tfbs37Minor allele frequency- C:0.18NA EU EA WA 560
rs8561211,2
C,H157166567(-) TCTACG/AGAACA 4 -- ng515Minor allele frequency- A:0.00MN EU EA WA 602
rs8561201,2
A,C157166426(-) GGCCAC/TAAAAA 4 -- ng510--------
About this table

HapMap Linkage Disequilibrium images for PYHIN1 (up to first 250kb)

Disorders & Mutations
for PYHIN1

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 612677

Medical News
for PYHIN1

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for PYHIN1

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10 PubMed articles for PYHIN1 gene:

Search for PYHIN1

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  
  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

Genome Databases showing PYHIN1

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section
Entrez Gene: 149628 HGNC: 28894 AceView: IFI16andIFIX Ensembl:ENSG00000163564 euGenes: HUgn149628
ECgene: PYHIN1 H-InvDB: PYHIN1

Other Databases showing PYHIN1

(According to HUGE)
About This Section

   --

Specialized Databases showing PYHIN1

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

   --

Licensable Technologies
for PYHIN1

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for PYHIN1

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for PYHIN1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for PYHIN1-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for PYHIN1 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for PYHIN1 Browse small molecules at Sigma-Aldrich
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 Search Novus for antibodies for PYHIN1

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