PADI6 Gene
Peptidyl Arginine Deiminase 6: A Key Regulator of Oocyte Cytoskeletal Organization and Early Embryogenesis
Gene Information Card
| Symbol | PADI6 |
|---|---|
| Full Name | Peptidyl Arginine Deiminase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 353238 ncbi.nlm.nih.gov/gene/353238 |
| Ensembl ID | ENSG00000146731 |
| UniProt ID | Q6TGC4 |
| OMIM ID | 610363 |
| HGNC ID | 18349 |
| Aliases | PAD6, ePAD, PADIV, PAD-6 |
Description
PADI6 encodes a member of the peptidyl arginine deiminase family that catalyzes the conversion of arginine residues to citrulline in target proteins. This enzyme is a core component of the subcortical maternal complex (SCMC) essential for oocyte cytoskeletal organization, spindle positioning, and early embryonic development. PADI6 is predominantly expressed in oocytes and early embryos, and its loss-of-function mutations are associated with female infertility due to early embryonic arrest.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Female infertility due to early embryonic arrest (Oocyte/zygote/embryo maturation arrest 6) | Loss-of-function mutations in PADI6 disrupt the subcortical maternal complex, leading to abnormal cytoskeletal organization, spindle defects, and failure of early embryonic cleavage. | OMIM #617712; ClinVar; PMID: 27523598 |
| Subcortical maternal complex (SCMC) deficiency | PADI6 deficiency prevents proper assembly of the SCMC, resulting in loss of oocyte polarity and impaired preimplantation development. | OMIM #610363; PMID: 27523598 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 0.0 | Not detected (nTPM < 1) |
| Testis | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Oocyte (human) | N/A | High expression; essential for SCMC formation |
| Embryonic stem cells (H1 hESC) | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Loss of function; truncation of PADI6 protein |
| c.1709G>A (p.Arg570His) | Missense | Rare | Likely loss of function; disrupts SCMC interaction |
| c.1966C>T (p.Arg656*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations in PADI6 lead to truncated or absent protein, disrupting SCMC assembly and causing early embryonic arrest.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PADI6.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; all reported pathogenic variants are recessive loss-of-function.
View complete mutation data：
Gene Ontology (GO)
| • protein-arginine deiminase activity (GO:0004668) | • cytoplasm (GO:0005737) |
| • centrosome (GO:0005813) | • spindle (GO:0005819) |
| • cytoskeleton (GO:0005856) | • spermatogenesis (GO:0007283) |
| • female gamete generation (GO:0007292) | • peptidyl-citrulline biosynthetic process from peptidyl-arginine (GO:0018103) |
| • protein-containing complex (subcortical maternal complex) (GO:0032991) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Subcortical maternal complex (SCMC) pathway
• Oocyte meiotic spindle assembly and positioning
• Early embryonic development (preimplantation)
Protein Summary
PADI6 is a 695-amino acid protein (UniProt Q6TGC4) belonging to the peptidyl arginine deiminase family. It catalyzes the citrullination of arginine residues in target proteins, a post-translational modification that alters protein structure and function. PADI6 is a key structural component of the subcortical maternal complex (SCMC), a multi-protein assembly localized to the oocyte cortex. The SCMC is critical for maintaining oocyte polarity, spindle positioning, and symmetric cleavage during early embryogenesis. PADI6 is expressed almost exclusively in oocytes and early embryos, and its deficiency leads to female infertility due to early embryonic arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PADI6 Knockout HEK293 Cell Line | EDJ-KQ14667 | Human | 353238 | Details Get a Quote |
| PADI6 Knockout HeLa Cell Line | EDJ-KQ59869 | Human | 353238 | Details Get a Quote |
| PADI6 Knockout A-549 Cell Line | EDJ-KQ68333 | Human | 353238 | Details Get a Quote |
| PADI6 Knockout HCT 116 Cell Line | EDJ-KQ76708 | Human | 353238 | Details Get a Quote |
