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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
Preimplantation embryonic lethality |
PREIMPLANTATION EMBRYONIC LETHALITY 2 |
rs767222404, rs1057517681, rs1057517682, rs775156958, rs1057517683, rs1057517684, rs776453307, rs752098612 |
27545678 |
|
|
|