PADI6
entrez
353238
canonical
uniprot
Q6TGC4
canonical
ensembl
ENSG00000276747
resolver
ensembl
ENSG00000280949
resolver
ensp
ENSP00000483125
resolver
ensp
ENSP00000485805
resolver
enst
ENST00000619609
resolver
enst
ENST00000625380
resolver
genesymbol
PADI6
resolver
genesymbol_syn
PAD6
resolver
hgnc
HGNC:20449
resolver
uniprot
Q330K5
resolver
uniprot
Q70SX3
resolver
uniprot_entry
PADI6_HUMAN
resolver
uniprot_sec
Q330K5
resolver
uniprot_sec
Q70SX3
resolver
amino_acid_sequence
MVSVEGRAMSFQSIIHLSLDSPVHAVCVLGTEICLDLSGCAPQKCQCFTIHGSGRVLIDVANTVISEKEDATIWWPLSDPTYATVKMTSPSPSVDADKVSVTYYGPNEDAPVGTAVLYLTGIEVSLEVDIYRNGQVEMSSDKQAKKKWIWGPSGWGAILLVNCNPADVGQQLEDKKTKKVIFSEEITNLSQMTLNVQGPSCILKKYRLVLHTSKEESKKARVYWPQKDNSSTFELVLGPDQHAYTLALLGNHLKETFYVEAIAFPSAEFSGLISYSVSLVEESQDPSIPETVLYKDTVVFRVAPCVFIPCTQVPLEVYLCRELQLQGFVDTVTKLSEKSNSQVASVYEDPNRLGRWLQDEMAFCYTQAPHKTTSLILDTPQAADLDEFPMKYSLSPGIGYMIQDTEDHKVASMDSIGNLMVSPPVKVQGKEYPLGRVLIGSSFYPSAEGRAMSKTLRDFLYAQQVQAPVELYSDWLMTGHVDEFMCFIPTDDKNEGKKGFLLLLASPSACYKLFREKQKEGYGDALLFDELRADQLLSNGREAKTIDQLLADESLKKQNEYVEKCIHLNRDILKTELGLVEQDIIEIPQLFCLEKLTNIPSDQQPKRSFARPYFPDLLRMIVMGKNLGIPKPFGPQIKGTCCLEEKICCLLEPLGFKCTFINDFDCYLTEVGDICACANIRRVPFAFKWWKMVP
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 16 (OZEMA16) [MIM:617234]: A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. {ECO:0000269|PubMed:27545678, ECO:0000269|PubMed:29693651, ECO:0000269|PubMed:31664658, ECO:0000269|PubMed:34036456, ECO:0000269|PubMed:34987164, ECO:0000269|PubMed:35433708, ECO:0000269|PubMed:36088419, ECO:0000269|PubMed:36704355, ECO:0000269|PubMed:37220902, ECO:0000269|PubMed:37712067, ECO:0000269|PubMed:39644447, ECO:0000269|PubMed:39887367, ECO:0000269|PubMed:40830544, ECO:0000269|PubMed:41884623}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=PADI6 variants have been found in a spectrum of phenotypes characterized by aberrant methylation of multiple imprinted loci, a condition known as multi-locus imprinting defect or multi-locus imprinting disturbance (MLID) (PubMed:32928291, PubMed:33221824). MLID-related phenotype spectrum ranges from intrauterine death to different types of imprinting disorders, including Beckwith-Wiedemann syndrome (BWS), Silver-Russell syndrome (SRS), and non-specific developmental and behavioral manifestations (PubMed:32928291, PubMed:33221824). {ECO:0000269|PubMed:32928291, ECO:0000269|PubMed:33221824}.
uniprot
proteins
function
FUNCTION: Structural constituent of cytoplasmic lattices, which plays a key role in early embryonic development (PubMed:37922900, PubMed:41772195). Cytoplasmic lattices consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos: they are required to store maternal proteins critical for embryonic development, such as ribosomal proteins, cytoskeletal tubulins and proteins controlling epigenetic reprogramming of the preimplantation embryo, in a poised but restrained state, regulating their availability for early embryonic development (PubMed:37922900, PubMed:41772195). Cytoplasmic lattices also tightly control ubiquitination during the oocyte-to-embryo transition by trapping E3 ubiquitin-protein ligase UHRF1 in a compact autoinhibited conformation and maintaining SCF ubiquitin ligase complexes inactive (PubMed:41772195). PADI6 oligomers acts as an essential structural scaffolding element of cytoplasmic lattices (By similarity). In contrast to other members of the family, does not show protein-arginine deiminase activity due to its inability to bind Ca(2+) (PubMed:38656308, PubMed:39286527). {ECO:0000250|UniProtKB:Q8K3V4, ECO:0000269|PubMed:37922900, ECO:0000269|PubMed:38656308, ECO:0000269|PubMed:39286527, ECO:0000269|PubMed:41772195}.
uniprot
proteins
mass_dalton
77727
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-10, possibly by RSK-type kinases, and Ser-446 creates binding sites for 14-3-3 proteins. {ECO:0000269|PubMed:22634725}.
uniprot
proteins
protein_family
Protein arginine deiminase family
uniprot
proteins
pubmed
15087120
uniprot
proteins
pubmed
15625577
uniprot
proteins
pubmed
22634725
uniprot
proteins
pubmed
27545678
uniprot
proteins
pubmed
29693651
uniprot
proteins
pubmed
31664658
uniprot
proteins
pubmed
32928291
uniprot
proteins
pubmed
33221824
uniprot
proteins
pubmed
34036456
uniprot
proteins
pubmed
34987164
uniprot
proteins
pubmed
35433708
uniprot
proteins
pubmed
36088419
uniprot
proteins
pubmed
36704355
uniprot
proteins
pubmed
37148315
uniprot
proteins
pubmed
37220902
uniprot
proteins
pubmed
37712067
uniprot
proteins
pubmed
37922900
uniprot
proteins
pubmed
38656308
uniprot
proteins
pubmed
39286527
uniprot
proteins
pubmed
39644447
uniprot
proteins
pubmed
39887367
uniprot
proteins
pubmed
40830544
uniprot
proteins
pubmed
41772195
uniprot
proteins
pubmed
41884623
uniprot
proteins
sequence_length
694
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27545678, ECO:0000269|PubMed:37922900}. Cytoplasmic vesicle, secretory vesicle, Cortical granule {ECO:0000250|UniProtKB:Q8K3V4}. Nucleus {ECO:0000250|UniProtKB:Q8K3V4}. Note=Core component of cytoplasmic lattices in oocytes (PubMed:37922900). Also nuclear (By similarity). {ECO:0000250|UniProtKB:Q8K3V4, ECO:0000269|PubMed:37922900}.
uniprot
proteins