PADI3
entrez
51702
canonical
uniprot
Q9ULW8
canonical
ensembl
ENSG00000142619
resolver
ensembl
ENSG00000280549
resolver
ensp
ENSP00000364609
resolver
ensp
ENSP00000486702
resolver
enst
ENST00000375460
resolver
enst
ENST00000625769
resolver
genesymbol
PADI3
resolver
genesymbol_syn
PAD3
resolver
genesymbol_syn
PDI3
resolver
hgnc
HGNC:18337
resolver
uniprot
Q58EY7
resolver
uniprot
Q70SX5
resolver
uniprot_entry
PADI3_HUMAN
resolver
uniprot_sec
Q58EY7
resolver
uniprot_sec
Q70SX5
resolver
amino_acid_sequence
MSLQRIVRVSLEHPTSAVCVAGVETLVDIYGSVPEGTEMFEVYGTPGVDIYISPNMERGRERADTRRWRFDATLEIIVVMNSPSNDLNDSHVQISYHSSHEPLPLAYAVLYLTCVDISLDCDLNCEGRQDRNFVDKRQWVWGPSGYGGILLVNCDRDDPSCDVQDNCDQHVHCLQDLEDMSVMVLRTQGPAALFDDHKLVLHTSSYDAKRAQVFHICGPEDVCEAYRHVLGQDKVSYEVPRLHGDEERFFVEGLSFPDAGFTGLISFHVTLLDDSNEDFSASPIFTDTVVFRVAPWIMTPSTLPPLEVYVCRVRNNTCFVDAVAELARKAGCKLTICPQAENRNDRWIQDEMELGYVQAPHKTLPVVFDSPRNGELQDFPYKRILGPDFGYVTREPRDRSVSGLDSFGNLEVSPPVVANGKEYPLGRILIGGNLPGSSGRRVTQVVRDFLHAQKVQPPVELFVDWLAVGHVDEFLSFVPAPDGKGFRMLLASPGACFKLFQEKQKCGHGRALLFQGVVDDEQVKTISINQVLSNKDLINYNKFVQSCIDWNREVLKRELGLAECDIIDIPQLFKTERKKATAFFPDLVNMLVLGKHLGIPKPFGPIINGCCCLEEKVRSLLEPLGLHCTFIDDFTPYHMLHGEVHCGTNVCRKPFSFKWWNMVP
uniprot
proteins
disease_involvement
DISEASE: Uncombable hair syndrome 1 (UHS1) [MIM:191480]: A form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age. UHS1 inheritance is autosomal dominant. {ECO:0000269|PubMed:27866708}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.3.15
uniprot
proteins
function
FUNCTION: Catalyzes the deimination of arginine residues of proteins. {ECO:0000269|PubMed:27866708}.
uniprot
proteins
mass_dalton
74743
uniprot
proteins
protein_family
Protein arginine deiminase family
uniprot
proteins
pubmed
11069618
uniprot
proteins
pubmed
15087120
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
27866708
uniprot
proteins
sequence_length
664
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27866708}.
uniprot
proteins