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PADI6 (peptidyl arginine deiminase 6)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
353238
Gene nameGene Name - the full gene name approved by the HGNC.
Peptidyl arginine deiminase 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PADI6
SynonymsGene synonyms aliases
OZEMA16, PREMBL2, hPADVI
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
rs775156958 T>A Pathogenic Coding sequence variant, missense variant
rs1057517681 C>G,T Pathogenic Stop gained, missense variant, coding sequence variant
rs1057517682 AG>- Pathogenic Coding sequence variant, frameshift variant
rs1057517683 C>T Pathogenic Stop gained, coding sequence variant
rs1057517684 G>A Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1210220 hsa-miR-3918 CLIP-seq
MIRT1210221 hsa-miR-4487 CLIP-seq
MIRT1210222 hsa-miR-4512 CLIP-seq
MIRT1210223 hsa-miR-4660 CLIP-seq
MIRT1210224 hsa-miR-4685-5p CLIP-seq
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:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6TGC4
Protein name Inactive protein-arginine deiminase type-6 (Peptidyl arginine deiminase-like protein) (Peptidylarginine deiminase VI) (hPADVI) (Protein-arginine deiminase type VI) (Protein-arginine deiminase type-6)
Protein function Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (PubMed:379
PDB 4DAT , 4DAU , 8QL0 , 9FMN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08526 PAD_N
9 120
Protein-arginine deiminase (PAD) N-terminal domain
Domain
PF08527 PAD_M
122 281
Protein-arginine deiminase (PAD) middle domain
Domain
PF03068 PAD
292 691
Protein-arginine deiminase (PAD)
Family
Sequence
Sequence length 694
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
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 18849993, 24403052, 25855136, 24403052, 18849993, 25855136
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Carcinoma Basal cell carcinoma, Carcinoma, Basal Cell rs121912654, rs555607708, rs786202962, rs1564055259 25855136, 24403052, 18849993, 18849993, 24403052
Nasopharyngeal carcinoma Nasopharyngeal carcinoma rs200046052 20512145

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