Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	149628
Gene name Gene Name - the full gene name approved by the HGNC.	Pyrin and HIN domain family member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PYHIN1
Synonyms (NCBI Gene) Gene synonyms aliases	IFIX
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 i

Show/Hide all(97)

miRTarBase ID	miRNA	Experiments	Reference
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509222	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509222	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT509222	hsa-miR-205-3p	HITS-CLIP	23313552
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509222	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509222	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509222	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509222	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516406	hsa-miR-1305	PAR-CLIP	23446348
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509222	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509222	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT509222	hsa-miR-205-3p	HITS-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT509222	hsa-miR-205-3p	HITS-CLIP	23313552
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT509223	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509221	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT509220	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT509222	hsa-miR-205-3p	PAR-CLIP	20371350
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509222	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509222	hsa-miR-205-3p	PAR-CLIP	21572407
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509222	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT516406	hsa-miR-1305	PAR-CLIP	23446348
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509223	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509222	hsa-miR-205-3p	PAR-CLIP	23446348
MIRT509221	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT509220	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT2082529	hsa-miR-190	CLIP-seq
MIRT2082530	hsa-miR-190b	CLIP-seq
MIRT2082531	hsa-miR-3185	CLIP-seq
MIRT2082532	hsa-miR-548a-5p	CLIP-seq
MIRT2082533	hsa-miR-548ab	CLIP-seq
MIRT2082534	hsa-miR-548ak	CLIP-seq
MIRT2082535	hsa-miR-548b-5p	CLIP-seq
MIRT2082536	hsa-miR-548c-5p	CLIP-seq
MIRT2082537	hsa-miR-548d-5p	CLIP-seq
MIRT2082538	hsa-miR-548h	CLIP-seq
MIRT2082539	hsa-miR-548i	CLIP-seq
MIRT2082540	hsa-miR-548j	CLIP-seq
MIRT2082541	hsa-miR-548n	CLIP-seq
MIRT2082542	hsa-miR-548t	CLIP-seq
MIRT2082543	hsa-miR-548w	CLIP-seq
MIRT2082544	hsa-miR-548y	CLIP-seq
MIRT2082545	hsa-miR-559	CLIP-seq
MIRT2082529	hsa-miR-190	CLIP-seq
MIRT2082530	hsa-miR-190b	CLIP-seq
MIRT2082531	hsa-miR-3185	CLIP-seq
MIRT2082541	hsa-miR-548n	CLIP-seq
MIRT2082542	hsa-miR-548t	CLIP-seq
MIRT2082529	hsa-miR-190	CLIP-seq
MIRT2082530	hsa-miR-190b	CLIP-seq
MIRT2082531	hsa-miR-3185	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002218	Process	Activation of innate immune response	IBA	21873635
GO:0003690	Function	Double-stranded DNA binding	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IBA	21873635
GO:0005730	Component	Nucleolus	IDA
GO:0007049	Process	Cell cycle	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16479015
GO:0031648	Process	Protein destabilization	IMP	16479015, 18247378
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IBA	21873635
GO:0032991	Component	Protein-containing complex	IMP	16479015
GO:0035457	Process	Cellular response to interferon-alpha	IMP	16479015
GO:0035458	Process	Cellular response to interferon-beta	IBA	21873635
GO:0043388	Process	Positive regulation of DNA binding	IDA	16479015
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16479015, 18247378
GO:0050821	Process	Protein stabilization	IMP	16479015
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	16479015
GO:1902164	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	16479015
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IDA	18247378
GO:2000060	Process	Positive regulation of ubiquitin-dependent protein catabolic process	IMP	16479015

MIM	HGNC	e!Ensembl
612677	28894	ENSG00000163564

Protein

UniProt ID

Q6K0P9

Protein name

Pyrin and HIN domain-containing protein 1 (Interferon-inducible protein X)

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02758	PYRIN	8 → 80	PAAD/DAPIN/Pyrin domain	Domain
PF02760	HIN	211 → 379	HIN-200/IF120x domain	Family

Tissue specificity

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. {ECO:0000269|PubMed:15122330}.

Sequence

MANNYKKIVLLKGLEVINDYHFRIVKSLLSNDLKLNPKMKEEYDKIQIADLMEEKFPGDA
GLGKLIEFFKEIPTLGDLAETLKREKLKVANKIESIPVKGIIPSKKTKQKEVYPATPACT
PSNRLTAKGAEETLGPQKRKKPSEEETGTKRSKMSKEQTRPSCSAGASTSTAMGRSPPPQ
TSSSAPPNTSSTESLKPLANRHATASKNIFREDPIIAMVLNATKVFKYESSENEQRRMFH
ATVATQTQFFHVKVLNINLKRKFIKKRIIIISNYSKRNSLLEVNEASSVSEAGPDQTFEV
PKDIIRRAKKIPKINILHKQTSGYIVYGLFMLHTKIVNRKTTIYEIQDKTGSMAVVGKGE
CHNIPCEKGDKLRLFCFRLRKRENMSKLMSEMHSFIQIQKNTNQRSHDSRSMALPQEQSQ
HPKPSEASTTLPESHLKTPQMPPTTPSSSSFTKKDETHPGAQSSPANFRITSPTVAPPLS
SDTSTNRHPAVP

Sequence length

492

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29610475

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Asthma	Asthma		21804549	ClinVar, GWAS

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Asthma	Associate	25895113
Breast Neoplasms	Inhibit	16479015, 34599264
Carcinogenesis	Associate	16479015
Colitis Ulcerative	Stimulate	36165492
Inflammatory Bowel Diseases	Associate	25895113
Mouth Neoplasms	Associate	34599264
Neoplasms	Inhibit	34599264
Squamous Cell Carcinoma of Head and Neck	Inhibit	34599264
Tuberculosis	Associate	31843671

PYHIN1 (pyrin and HIN domain family member 1)