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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	149628
Gene name	Pyrin and HIN domain family member 1
Gene symbol	PYHIN1
Synonyms (NCBI Gene)	IFIX
Chromosome	1
Chromosome location	1q23.1
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 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 (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002218	Process	Activation of innate immune response	IBA
GO:0002218	Process	Activation of innate immune response	IEA
GO:0003690	Function	Double-stranded DNA binding	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IBA
GO:0016607	Component	Nuclear speck	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	16479015
GO:0031648	Process	Protein destabilization	IMP	16479015, 18247378
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
GO:0035458	Process	Cellular response to interferon-beta	IEA
GO:0043388	Process	Positive regulation of DNA binding	IDA	16479015
GO:0043517	Process	Positive regulation of DNA damage response, signal transduction by p53 class mediator	IDA	16479015
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16479015, 18247378
GO:0050821	Process	Protein stabilization	IMP	16479015
GO:1900182	Process	Positive regulation of protein localization to nucleus	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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	CTD, GWAS catalog CTD, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PYHIN1-related disorder	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Asthma	Asthma	BEFREE	21804549, 23666277, 25895113		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	21804549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	CTD_human_DG	21804549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASDB_DG	21804549		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	25895113	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	15122330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16479015, 34599264	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	16479015	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36165492	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	25895113	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15122330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29610475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15122330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	18247378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34599264	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29610475		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34599264	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

PYHIN1 (pyrin and HIN domain family member 1)