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PYHIN1 pyrin and HIN domain family member 1 [ Homo sapiens (human) ]

Gene ID: 149628, updated on 2-Nov-2024

Summary

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Official Symbol
PYHIN1provided by HGNC
Official Full Name
pyrin and HIN domain family member 1provided by HGNC
Primary source
HGNC:HGNC:28894
See related
Ensembl:ENSG00000163564 MIM:612677; AllianceGenome:HGNC:28894
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
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]
Expression
Broad expression in lymph node (RPKM 3.0), spleen (RPKM 2.1) and 19 other tissues See more
Orthologs
all
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Genomic context

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See PYHIN1 in Genome Data Viewer
Location:
1q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (158931552..158990870)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158068641..158114140)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (158901342..158946849)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 6 subfamily N member 1 Neighboring gene myeloid cell nuclear differentiation antigen Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:158856217-158856716 Neighboring gene pyrin and HIN domain family member 5, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:158879152-158879652 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:158908087-158909286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158922455-158923423 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:158928812-158928990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1900 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158975177-158975702 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:158975703-158976226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1901 Neighboring gene uncharacterized LOC124904432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1452 Neighboring gene pyrin domain containing 5 Neighboring gene interferon gamma inducible protein 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PYHIN1 regulates pro-inflammatory cytokine induction rather than innate immune DNA sensing in airway epithelial cells.
    Title: PYHIN1 regulates pro-inflammatory cytokine induction rather than innate immune DNA sensing in airway epithelial cells.
  2. Study demonstrates that IFIX antiviral functions work in part via viral transcriptional suppression and that HSV-1 has acquired mechanisms to block its functions via proteasome-dependent degradation.
    Title: Human Antiviral Protein IFIX Suppresses Viral Gene Expression during Herpes Simplex Virus 1 (HSV-1) Infection and Is Counteracted by Virus-induced Proteasomal Degradation.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus.
  4. 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.
  5. 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.
  6. 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.
  7. 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

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC23885

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to interferon-alpha IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cellular response to interferon-beta IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of protein localization to nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein destabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
is_active_in nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
pyrin and HIN domain-containing protein 1
Names
interferon-inducible protein X

NCBI Reference Sequences (RefSeq)

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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_029756.2 RefSeqGene

    Range
    5002..50509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410886.1 → NP_001397815.1  pyrin and HIN domain-containing protein 1 isoform gamma 1

    Status: REVIEWED

    Source sequence(s)
    AL359753
    Consensus CDS
    CCDS91077.1
    Related
    ENSP00000357117.4, ENST00000368135.4

  2. NM_152501.5 → NP_689714.2  pyrin and HIN domain-containing protein 1 isoform alpha 1

    See identical proteins and their annotated locations for NP_689714.2

    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
    Q5T3W6, Q6K0P6, Q6K0P7, Q6K0P8, Q6K0P9, Q8WW65
    Related
    ENSP00000357122.1, ENST00000368140.6
    Conserved Domains (2) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212 → 379
    HIN; HIN-200/IF120x domain

  3. NM_198928.5 → NP_945146.1  pyrin and HIN domain-containing protein 1 isoform alpha 2

    See identical proteins and their annotated locations for NP_945146.1

    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
    ENSP00000357120.3, ENST00000368138.7
    Conserved Domains (3) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:203 → 370
    HIN; HIN-200/IF120x domain
    pfam12126
    Location:124 → 195
    DUF3583; Protein of unknown function (DUF3583)

  4. NM_198929.5 → NP_945147.1  pyrin and HIN domain-containing protein 1 isoform beta 1

    See identical proteins and their annotated locations for NP_945147.1

    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
    ENSP00000376083.2, ENST00000392254.6
    Conserved Domains (2) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212 → 379
    HIN; HIN-200/IF120x domain

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

    See identical proteins and their annotated locations for NP_945148.1

    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
    ENSP00000376082.3, ENST00000392252.7
    Conserved Domains (2) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:203 → 370
    HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    158931552..158990870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509243.3 → XP_011507545.1  pyrin and HIN domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212 → 379
    HIN; HIN-200/IF120x domain

  2. XM_011509242.3 → XP_011507544.1  pyrin and HIN domain-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011507544.1

    UniProtKB/Swiss-Prot
    Q5T3W6, Q6K0P6, Q6K0P7, Q6K0P8, Q6K0P9, Q8WW65
    Conserved Domains (2) summary
    cd08305
    Location:10 → 83
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212 → 379
    HIN; HIN-200/IF120x domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    158068641..158114140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6K0P9.1 GenPept UniProtKB/Swiss-Prot:Q6K0P9

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