PIR (pirin)

Gene

• Entrez ID: 8544
• Gene name: Pirin
• Gene symbol: PIR
• Synonyms (NCBI Gene): -
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box tran

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023859	hsa-miR-1-3p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003712	Function	Transcription coregulator activity	IMP	23716661
GO:0003712	Function	Transcription coregulator activity	TAS	9079676
GO:0005515	Function	Protein binding	IPI	10362352
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9079676
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9079676
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	20089166
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9079676
GO:0007586	Process	Digestion	TAS
GO:0008127	Function	Quercetin 2,3-dioxygenase activity	IBA
GO:0008127	Function	Quercetin 2,3-dioxygenase activity	IDA	15951572
GO:0008127	Function	Quercetin 2,3-dioxygenase activity	IEA
GO:0008127	Function	Quercetin 2,3-dioxygenase activity	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0030224	Process	Monocyte differentiation	IBA
GO:0030224	Process	Monocyte differentiation	IMP	20010624
GO:0046872	Function	Metal ion binding	IDA	20711196
GO:0046872	Function	Metal ion binding	IEA
GO:0051213	Function	Dioxygenase activity	IEA

Other IDs

• MIM: 300931
• HGNC: 30048
• e!Ensembl: ENSG00000087842

Protein

• UniProt ID: O00625
• Protein name: Pirin (EC 1.13.11.24) (Probable quercetin 2,3-dioxygenase PIR) (Probable quercetinase)
• Protein function: Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin
• PDB: 1J1L, 3ACL, 4ERO, 4EWA, 4EWD, 4EWE, 4GUL, 4HLT, 5JCT, 6H1H, 6H1I, 6N0J, 6N0K
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02678	Pirin	21 → 118	Pirin	Family
  PF05726	Pirin_C	171 → 277	Pirin C-terminal cupin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in a subset of melanomas. Detected at very low levels in most tissues (at protein level). Expressed in all tissues, with highest level of expression in heart and liver. {ECO:0000269|PubMed:20089166, ECO:0000269|PubMed:
• Sequence:

  MGSSKKVTLSVLSREQSEGVGARVRRSIGRPELKNLDPFLLFDEFKGGRPGGFPDHPHRG
  FETVSYLLEGGSMAHEDFCGHTGKMNPGDLQWMTAGRGILHAEMPCSEEPAHGLQLWVNL
  RSSEKMVEPQYQELKSEEIPKPSKDGVTVAVISGEALGIKSKVYTRTPTLYLDFKLDPGA
  KHSQPIPKGWTSFIYTISGDVYIGPDDAQQKIEPHHTAVLGEGDSVQVENKDPKRSHFVL
  IAGEPLREPVIQHGPFVMNTNEEISQAILDFRNAKNGFERAKTWKSKIGN

• Sequence length: 290

Pathways

Reactome:

Digestion

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20010624		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20010624		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28664612		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37325646	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31500513		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25998508	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32369104	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31299012		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29508072		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	27125830	Associate	★☆☆☆☆ Found in Text Mining only
Elejalde Disease	Hereditary elliptocytosis	Pubtator	38033031	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36072903	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	32369104	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29508072		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20010624		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31299012		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23374458	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31500513		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15547752, 29367430, 30444038		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20089166, 21514450, 37308689	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	20711196		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26317550, 31500513		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	GENOMICS_ENGLAND_DG	19766747		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35269612, 38518153	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24272884, 30444038	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22325059		★☆☆☆☆ Found in Text Mining only