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

Summary

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

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association of IFI200 gene polymorphisms with susceptibility to systemic lupus erythematosus.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486495

G16240 (e-PCR)
- UniSTS:37025

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

NG_029756.2 RefSeqGene

Range

5002..50509

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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)
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
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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

158931552..158990870

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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