PADI4 (peptidyl arginine deiminase 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 23569
Gene name Peptidyl arginine deiminase 4
Gene symbol PADI4
Synonyms (NCBI Gene)
PADPAD4PADI5PDI4PDI5
Chromosome 1
Chromosome location 1p36.13
Summary This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [prov
miRNA miRNA information provided by mirtarbase database.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT017912 hsa-miR-335-5p Microarray 18185580
MIRT2060295 hsa-miR-1915 CLIP-seq
MIRT2060296 hsa-miR-338-5p CLIP-seq
MIRT2060297 hsa-miR-4270 CLIP-seq
MIRT2060298 hsa-miR-4441 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0004668 Function Protein-arginine deiminase activity IDA 21584310
GO:0004668 Function Protein-arginine deiminase activity IEA
GO:0004668 Function Protein-arginine deiminase activity IMP 15247907
GO:0004668 Function Protein-arginine deiminase activity TAS 10488123
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605347 18368 ENSG00000159339
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UM07
Protein name Protein-arginine deiminase type-4 (EC 3.5.3.15) (HL-60 PAD) (Peptidylarginine deiminase IV) (Protein-arginine deiminase type IV)
Protein function Catalyzes the citrullination/deimination of arginine residues of proteins such as histones, thereby playing a key role in histone code and regulation of stem cell maintenance (PubMed:15339660, PubMed:15345777, PubMed:16567635, PubMed:21245532).
PDB 1WD8 , 1WD9 , 1WDA , 2DEW , 2DEX , 2DEY , 2DW5 , 3APM , 3APN , 3B1T , 3B1U , 4DKT , 4X8C , 4X8G , 5N0M , 5N0Y , 5N0Z , 5N1B , 8GOD , 8R8U , 8R8V , 8SMK , 8SML
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08526 PAD_N 1 → 111 Protein-arginine deiminase (PAD) N-terminal domain Domain
PF08527 PAD_M 113 → 273 Protein-arginine deiminase (PAD) middle domain Domain
PF03068 PAD 283 → 660 Protein-arginine deiminase (PAD) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in eosinophils and neutrophils, not expressed in peripheral monocytes or lymphocytes. {ECO:0000269|PubMed:11435484}.
Sequence
Sequence length 663
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Neutrophil extracellular trap formation   Chromatin modifying enzymes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal pulmonary interstitial morphology association; Benign rs11203366, rs11203367, rs874881, rs1748033 RCV001249179
RCV001249180
RCV001249182
RCV001249181
Acute myeloid leukemia Benign; Likely benign rs33981382 RCV005907959
PADI4-related disorder Benign; Likely benign; association rs2240335, rs2526146021, rs779399204, rs141897176, rs35903413, rs41266003, rs142092052, rs11588132, rs147414271, rs765222511, rs113714693, rs35809521, rs142590988, rs35381732, rs11203366
View all (3 more)		 RCV003974446
RCV003904193
RCV003974139
RCV003964556
RCV003973858
RCV003973969
RCV003933927
RCV003927316
RCV003939436
RCV003939371
RCV003937012
RCV003952268
RCV003976639
RCV003915953
RCV003983860
RCV003973163
RCV003973164
RCV003983861
Rheumatoid arthritis association; Benign rs2240340, rs1557787212, rs11203366, rs11203367, rs874881, rs1748033 RCV000721936
RCV000722077
RCV001249179
RCV001249180
RCV001249182
RCV001249181
Show/Hide Text Mining Associations (102)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 33295402
Adenocarcinoma Stimulate 21698003, 32629995
Adenocarcinoma of Lung Stimulate 19183436
Alzheimer Disease Associate 3053167
Angioedemas Hereditary Inhibit 35886575
Arthritis Associate 15731287, 17968929, 31242568
Arthritis Infectious Associate 34868018
Arthritis Juvenile Associate 28182665, 36793709
Arthritis Rheumatoid Associate 15020330, 15077293, 15731287, 15760928, 16380915, 16385500, 16469113, 17002273, 17179172, 17469103, 17497940, 17968929, 17980669, 18462498, 18576335
View all (51 more)
Arthritis Rheumatoid Stimulate 21882827, 37108746, 37193992