PADI3 (peptidyl arginine deiminase 3)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51702
Gene name Gene Name - the full gene name approved by the HGNC.
Peptidyl arginine deiminase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PADI3
Synonyms (NCBI Gene) Gene synonyms aliases
PAD3, PDI3, UHS1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
UHS1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distin
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs34097903 G>A Pathogenic Coding sequence variant, missense variant, genic downstream transcript variant
rs139426141 A>G Pathogenic Missense variant, coding sequence variant
rs139876092 C>G,T Pathogenic Missense variant, coding sequence variant
rs140482516 C>T Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs142129409 T>A Pathogenic Coding sequence variant, genic upstream transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
miRTarBase ID miRNA Experiments Reference
MIRT495066 hsa-miR-365a-3p PAR-CLIP 22291592
MIRT495065 hsa-miR-365b-3p PAR-CLIP 22291592
MIRT495064 hsa-miR-7851-3p PAR-CLIP 22291592
MIRT495062 hsa-miR-6765-3p PAR-CLIP 22291592
MIRT495063 hsa-miR-939-3p PAR-CLIP 22291592
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
SP1 Unknown 16671893
SP3 Unknown 16671893
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0004668 Function Protein-arginine deiminase activity IBA 21873635
GO:0004668 Function Protein-arginine deiminase activity IMP 27866708
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183, 32814053
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606755 18337 ENSG00000142619
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9ULW8
Protein name Protein-arginine deiminase type-3 (EC 3.5.3.15) (Peptidylarginine deiminase III) (Protein-arginine deiminase type III)
Protein function Catalyzes the deimination of arginine residues of proteins.
PDB 6CE1 , 7D4Y , 7D56 , 7D5R , 7D5V , 7D8N , 7DAN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08526 PAD_N 1 → 113 Protein-arginine deiminase (PAD) N-terminal domain Domain
PF08527 PAD_M 115 → 273 Protein-arginine deiminase (PAD) middle domain Domain
PF03068 PAD 283 → 661 Protein-arginine deiminase (PAD) Family
Tissue specificity TISSUE SPECIFICITY: Hair follicles, and epidermis at very low levels.
Sequence
Sequence length 664
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Chromatin modifying enzymes
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Central centrifugal cicatricial alopecia Central centrifugal cicatricial alopecia rs139876092, rs1557508308, rs140482516, rs1437225536 30763140
Uncombable hair syndrome Uncombable hair syndrome, UNCOMBABLE HAIR SYNDROME 1 rs201930497, rs779702016, rs142129409, rs144944758 27866708
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Uncombable Hair Syndrome uncombable hair syndrome GenCC
Rheumatoid arthritis Rheumatoid arthritis GWAS
Show/Hide Text Mining Associations (22)
Associations from Text Mining
Disease Name Relationship Type References
Alopecia Associate 33167971
Arthritis Rheumatoid Associate 17968929, 21859690, 27765067, 33502443
Carcinogenesis Associate 39206995
Cardiomyopathy Dilated Associate 39442233
Chronic Disease Associate 38155185
Colorectal Neoplasms Inhibit 39206995
Fetal Growth Retardation Associate 40362485
Glioblastoma Associate 30597867, 32098295
Herpes Simplex Associate 38055760
Hidradenitis Suppurativa Associate 31484788