Padi6 peptidyl arginine deiminase, type VI [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Padi6provided by MGI
Official Full Name: peptidyl arginine deiminase, type VIprovided by MGI
Primary source: MGI:MGI:2655198
See related: Ensembl:ENSMUSG00000040935 AllianceGenome:MGI:2655198
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: P75; Pad6; ePAD; Padi5
Summary: Enables protein-arginine deiminase activity. Involved in embryonic cleavage. Acts upstream of or within cytoplasm organization; cytoskeleton organization; and regulation of translation by machinery localization. Located in cortical granule and intermediate filament cytoskeleton. Is expressed in early embryo; ileum; and reproductive system. Orthologous to human PADI6 (peptidyl arginine deiminase 6). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward ovary adult (RPKM 37.0) See more
Orthologs: human all
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Genomic context

Location:: 4 D3; 4 72.26 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (140454666..140469954, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (140727355..140742643, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
Title: A maternal-effect Padi6 variant causes nuclear and cytoplasmic abnormalities in oocytes, as well as failure of epigenetic reprogramming and zygotic genome activation in embryos.
mRNAs, possibly in a complex with MSY2 and PADI6, are bound in the cytoplasmic lattices (CPLs) and may play a role in securing the mRNA-MSY2 complex to the CPLs.
Title: Role for PADI6 in securing the mRNA-MSY2 complex to the oocyte cytoplasmic lattices.
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
Title: Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
PADI6/cytoplasmic lattice superstructure plays a key role in regulating microtubule-mediated organelle positioning and movement.
Title: Regulation of mouse oocyte microtubule and organelle dynamics by PADI6 and the cytoplasmic lattices.
Phosphorylation and/or YWHA binding may serve as a means of intracellular PADI6 regulation.
Title: Phosphorylation-dependent interaction of tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein (YWHA) with PADI6 following oocyte maturation in mice.
embryonic genome activation (EGA) is defective in Padi6-/- two-cell embryos
Title: Role for PADI6 and the cytoplasmic lattices in ribosomal storage in oocytes and translational control in the early mouse embryo.
Inactivation of the PAD6 gene in mice leads to female infertility whereas male fertility is not affected.
Title: Peptidylarginine deiminase (PAD) 6 is essential for oocyte cytoskeletal sheet formation and female fertility.
localized to egg cytoplasmic sheets; possible role for ePAD in cytoskeletal reorganization in the egg and early embryo
Title: ePAD, an oocyte and early embryo-abundant peptidylarginine deiminase-like protein that localizes to egg cytoplasmic sheets.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (5) 1 citation

General gene information

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Markers

Padi6 (e-PCR), detects polymorphism
- UniSTS:531316

D4Mit64 (e-PCR), detects polymorphism
- UniSTS:130181

Padi6 (e-PCR), detects polymorphism
- UniSTS:526832

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-arginine deiminase activity	IBA Inferred from Biological aspect of Ancestor more info
NOT contributes_to protein-arginine deiminase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cytoplasm organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic cleavage	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of translation by machinery localization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cortical granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein-arginine deiminase type-6

Names: arginine deiminase-like protein; egg and embryo abundant PAD; peptidyl arginine deiminase, egg and embryo abundant; peptidylarginine deiminase VI; protein-arginine deiminase type VI

NP_694746.2

EC 3.5.3.15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_153106.2 → NP_694746.2 protein-arginine deiminase type-6

See identical proteins and their annotated locations for NP_694746.2

Status: VALIDATED

Source sequence(s)

AK139616, BC053724, CJ202890

Consensus CDS

CCDS38936.1

UniProtKB/Swiss-Prot

Q75WC6, Q8K3V4

Related

ENSMUSP00000044044.5, ENSMUST00000038749.11

Conserved Domains (3) summary

pfam03068
Location:283 → 679

PAD; Protein-arginine deiminase (PAD)

pfam08526
Location:1 → 112

PAD_N; Protein-arginine deiminase (PAD) N-terminal domain

pfam08527
Location:114 → 262

PAD_M; Protein-arginine deiminase (PAD) middle domain