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

Gene ID: 149628, updated on 26-Oct-2022

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
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Genomic context

See PYHIN1 in Genome Data Viewer
Location:
1q23.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (158931552..158990870)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (158068641..158114140)
105.20220307 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 pyrin and HIN domain family member 5, pseudogene Neighboring gene uncharacterized LOC124904432 Neighboring gene pyrin domain containing 5 Neighboring gene interferon gamma inducible protein 16

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
involved_in cell cycle IEA
Inferred from Electronic Annotation
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
PubMed 
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 interleukin-1 beta production IBA
Inferred from Biological aspect of Ancestor
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
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
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

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001410886.1NP_001397815.1  pyrin and HIN domain-containing protein 1 isoform gamma 1

    Status: REVIEWED

    Source sequence(s)
    AL359753
    Consensus CDS
    CCDS91077.1
  2. NM_152501.5NP_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
    Q6K0P9, Q8WW65
    Related
    ENSP00000357122.1, ENST00000368140.6
    Conserved Domains (2) summary
    cd08305
    Location:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212379
    HIN; HIN-200/IF120x domain
  3. NM_198928.5NP_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:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:203370
    HIN; HIN-200/IF120x domain
    pfam12126
    Location:124195
    DUF3583; Protein of unknown function (DUF3583)
  4. NM_198929.5NP_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:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212379
    HIN; HIN-200/IF120x domain
  5. NM_198930.4NP_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:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:203370
    HIN; HIN-200/IF120x domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011509243.3XP_011507545.1  pyrin and HIN domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    cd08305
    Location:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212379
    HIN; HIN-200/IF120x domain
  2. XM_011509242.3XP_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
    Q6K0P9, Q8WW65
    Conserved Domains (2) summary
    cd08305
    Location:1083
    Pyrin; Pyrin: a protein-protein interaction domain
    pfam02760
    Location:212379
    HIN; HIN-200/IF120x domain
  3. XM_005244930.3XP_005244987.1  pyrin and HIN domain-containing protein 1 isoform X3

    UniProtKB/Swiss-Prot
    Q6K0P9
    Related
    ENSP00000357117.4, ENST00000368135.4
    Conserved Domains (1) summary
    cd08305
    Location:1083
    Pyrin; Pyrin: a protein-protein interaction domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    158068641..158114140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)