PIR (pirin)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8544
Gene name Gene Name - the full gene name approved by the HGNC.
Pirin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIR
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp22.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT023859 hsa-miR-1-3p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IMP 23716661
GO:0005515 Function Protein binding IPI 10362352
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 9079676
GO:0005654 Component Nucleoplasm TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300931 30048 ENSG00000087842
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Sequence length 290
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Digestion
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Dermatitis Contact Dermatitis rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 25724174
Osteoporosis Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 19766747
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Show/Hide Text Mining Associations (20)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34346164
Arthritis Rheumatoid Associate 37325646
Carcinoma Renal Cell Associate 25998508
Cholangiocarcinoma Stimulate 32369104
COVID 19 Associate 33933634
Diabetes Mellitus Associate 27125830
Elejalde Disease Associate 38033031
Esophageal Squamous Cell Carcinoma Associate 36072903
Gallbladder Neoplasms Stimulate 32369104
Inflammation Associate 38033031