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PADI3 (peptidyl arginine deiminase 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51702
Gene nameGene Name - the full gene name approved by the HGNC.
Peptidyl arginine deiminase 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PADI3
SynonymsGene synonyms aliases
PAD3, PDI3, UHS1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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
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.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
Sequence length 664
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Chromatin modifying enzymes
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
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
Unknown
Disease name Disease term dbSNP ID References
Alopecia areata Alopecia Areata
Trichodysplasia Trichodysplasia

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