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Protein

Protein-arginine deiminase type-3

Gene

PADI3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the deimination of arginine residues of proteins.1 Publication

Catalytic activityi

Protein L-arginine + H2O = protein L-citrulline + NH3.1 Publication

Cofactori

Ca2+By similarity

GO - Molecular functioni

  • calcium ion binding Source: InterPro
  • identical protein binding Source: IntAct
  • protein-arginine deiminase activity Source: UniProtKB

GO - Biological processi

  • histone citrullination Source: GO_Central
  • protein citrullination Source: UniProtKB

Keywordsi

Molecular functionHydrolase
LigandCalcium

Enzyme and pathway databases

BioCyciMetaCyc:HS06944-MONOMER
BRENDAi3.5.3.15 2681
ReactomeiR-HSA-3247509 Chromatin modifying enzymes

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-arginine deiminase type-3 (EC:3.5.3.151 Publication)
Alternative name(s):
Peptidylarginine deiminase III
Protein-arginine deiminase type III
Gene namesi
Name:PADI3
Synonyms:PAD3, PDI3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000142619.4
HGNCiHGNC:18337 PADI3
MIMi606755 gene
neXtProtiNX_Q9ULW8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Uncombable hair syndrome 1 (UHS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:191480
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078023112L → H in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs142129409EnsemblClinVar.1
Natural variantiVAR_078024294A → V in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs144080386EnsemblClinVar.1
Natural variantiVAR_078025605P → T in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs144944758EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi51702
MalaCardsiPADI3
MIMi191480 phenotype
OpenTargetsiENSG00000142619
Orphaneti1410 Uncombable hair syndrome
PharmGKBiPA32901

Chemistry databases

ChEMBLiCHEMBL1909488
DrugBankiDB00155 L-Citrulline

Polymorphism and mutation databases

BioMutaiPADI3
DMDMi56757696

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002200291 – 664Protein-arginine deiminase type-3Add BLAST664

Proteomic databases

EPDiQ9ULW8
MaxQBiQ9ULW8
PaxDbiQ9ULW8
PeptideAtlasiQ9ULW8
PRIDEiQ9ULW8
ProteomicsDBi85144
TopDownProteomicsiQ9ULW8

PTM databases

iPTMnetiQ9ULW8
PhosphoSitePlusiQ9ULW8

Expressioni

Tissue specificityi

Hair follicles, and epidermis at very low levels.

Gene expression databases

BgeeiENSG00000142619 Expressed in 37 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_PADI3
GenevisibleiQ9ULW8 HS

Organism-specific databases

HPAiHPA043739

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-10488185,EBI-10488185

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119686, 20 interactors
IntActiQ9ULW8, 2 interactors
STRINGi9606.ENSP00000364609

Chemistry databases

BindingDBiQ9ULW8

Structurei

3D structure databases

ProteinModelPortaliQ9ULW8
SMRiQ9ULW8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the protein arginine deiminase family.Curated

Phylogenomic databases

eggNOGiENOG410IF3F Eukaryota
ENOG410ZKF3 LUCA
GeneTreeiENSGT00390000008680
HOGENOMiHOG000220908
HOVERGENiHBG053016
InParanoidiQ9ULW8
KOiK01481
OMAiPGVDIYI
OrthoDBiEOG091G02QG
PhylomeDBiQ9ULW8
TreeFamiTF331952

Family and domain databases

Gene3Di2.60.40.1700, 1 hit
2.60.40.1860, 1 hit
InterProiView protein in InterPro
IPR008972 Cupredoxin
IPR004303 PAD
IPR013530 PAD_C
IPR036556 PAD_central_sf
IPR013732 PAD_N
IPR038685 PAD_N_sf
IPR013733 Prot_Arg_deaminase_cen_dom
PANTHERiPTHR10837 PTHR10837, 1 hit
PfamiView protein in Pfam
PF03068 PAD, 1 hit
PF08527 PAD_M, 1 hit
PF08526 PAD_N, 1 hit
PIRSFiPIRSF001247 Protein-arginine_deiminase, 1 hit
SUPFAMiSSF110083 SSF110083, 1 hit
SSF49503 SSF49503, 1 hit

Sequencei

Sequence statusi: Complete.

Q9ULW8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLQRIVRVS LEHPTSAVCV AGVETLVDIY GSVPEGTEMF EVYGTPGVDI
60 70 80 90 100
YISPNMERGR ERADTRRWRF DATLEIIVVM NSPSNDLNDS HVQISYHSSH
110 120 130 140 150
EPLPLAYAVL YLTCVDISLD CDLNCEGRQD RNFVDKRQWV WGPSGYGGIL
160 170 180 190 200
LVNCDRDDPS CDVQDNCDQH VHCLQDLEDM SVMVLRTQGP AALFDDHKLV
210 220 230 240 250
LHTSSYDAKR AQVFHICGPE DVCEAYRHVL GQDKVSYEVP RLHGDEERFF
260 270 280 290 300
VEGLSFPDAG FTGLISFHVT LLDDSNEDFS ASPIFTDTVV FRVAPWIMTP
310 320 330 340 350
STLPPLEVYV CRVRNNTCFV DAVAELARKA GCKLTICPQA ENRNDRWIQD
360 370 380 390 400
EMELGYVQAP HKTLPVVFDS PRNGELQDFP YKRILGPDFG YVTREPRDRS
410 420 430 440 450
VSGLDSFGNL EVSPPVVANG KEYPLGRILI GGNLPGSSGR RVTQVVRDFL
460 470 480 490 500
HAQKVQPPVE LFVDWLAVGH VDEFLSFVPA PDGKGFRMLL ASPGACFKLF
510 520 530 540 550
QEKQKCGHGR ALLFQGVVDD EQVKTISINQ VLSNKDLINY NKFVQSCIDW
560 570 580 590 600
NREVLKRELG LAECDIIDIP QLFKTERKKA TAFFPDLVNM LVLGKHLGIP
610 620 630 640 650
KPFGPIINGC CCLEEKVRSL LEPLGLHCTF IDDFTPYHML HGEVHCGTNV
660
CRKPFSFKWW NMVP
Length:664
Mass (Da):74,743
Last modified:December 21, 2004 - v2
Checksum:i90C22A50BF6FD480
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti480A → V in BAA85974 (PubMed:11069618).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02046252I → V. Corresponds to variant dbSNP:rs3750300Ensembl.1
Natural variantiVAR_078023112L → H in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs142129409EnsemblClinVar.1
Natural variantiVAR_020463171V → M. Corresponds to variant dbSNP:rs2272629Ensembl.1
Natural variantiVAR_078024294A → V in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs144080386EnsemblClinVar.1
Natural variantiVAR_035502509G → R in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs781009577Ensembl.1
Natural variantiVAR_053558582A → T. Corresponds to variant dbSNP:rs34097903Ensembl.1
Natural variantiVAR_078025605P → T in UHS1; forms large aggregates; decreases protein-arginine deiminase activity. 1 PublicationCorresponds to variant dbSNP:rs144944758EnsemblClinVar.1
Natural variantiVAR_053559618R → Q. Corresponds to variant dbSNP:rs35624745Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026831 mRNA Translation: BAA85974.1
AJ549502 Genomic DNA Translation: CAE47742.1
AL590644 Genomic DNA No translation available.
BC041592 mRNA Translation: AAH41592.1
BC109091 mRNA Translation: AAI09092.1
BC109092 mRNA Translation: AAI09093.1
CCDSiCCDS179.1
RefSeqiNP_057317.2, NM_016233.2
UniGeneiHs.149195

Genome annotation databases

EnsembliENST00000375460; ENSP00000364609; ENSG00000142619
ENST00000625769; ENSP00000486702; ENSG00000280549
GeneIDi51702
KEGGihsa:51702
UCSCiuc001bai.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB026831 mRNA Translation: BAA85974.1
AJ549502 Genomic DNA Translation: CAE47742.1
AL590644 Genomic DNA No translation available.
BC041592 mRNA Translation: AAH41592.1
BC109091 mRNA Translation: AAI09092.1
BC109092 mRNA Translation: AAI09093.1
CCDSiCCDS179.1
RefSeqiNP_057317.2, NM_016233.2
UniGeneiHs.149195

3D structure databases

ProteinModelPortaliQ9ULW8
SMRiQ9ULW8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119686, 20 interactors
IntActiQ9ULW8, 2 interactors
STRINGi9606.ENSP00000364609

Chemistry databases

BindingDBiQ9ULW8
ChEMBLiCHEMBL1909488
DrugBankiDB00155 L-Citrulline

PTM databases

iPTMnetiQ9ULW8
PhosphoSitePlusiQ9ULW8

Polymorphism and mutation databases

BioMutaiPADI3
DMDMi56757696

Proteomic databases

EPDiQ9ULW8
MaxQBiQ9ULW8
PaxDbiQ9ULW8
PeptideAtlasiQ9ULW8
PRIDEiQ9ULW8
ProteomicsDBi85144
TopDownProteomicsiQ9ULW8

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375460; ENSP00000364609; ENSG00000142619
ENST00000625769; ENSP00000486702; ENSG00000280549
GeneIDi51702
KEGGihsa:51702
UCSCiuc001bai.4 human

Organism-specific databases

CTDi51702
DisGeNETi51702
EuPathDBiHostDB:ENSG00000142619.4
GeneCardsiPADI3
HGNCiHGNC:18337 PADI3
HPAiHPA043739
MalaCardsiPADI3
MIMi191480 phenotype
606755 gene
neXtProtiNX_Q9ULW8
OpenTargetsiENSG00000142619
Orphaneti1410 Uncombable hair syndrome
PharmGKBiPA32901
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF3F Eukaryota
ENOG410ZKF3 LUCA
GeneTreeiENSGT00390000008680
HOGENOMiHOG000220908
HOVERGENiHBG053016
InParanoidiQ9ULW8
KOiK01481
OMAiPGVDIYI
OrthoDBiEOG091G02QG
PhylomeDBiQ9ULW8
TreeFamiTF331952

Enzyme and pathway databases

BioCyciMetaCyc:HS06944-MONOMER
BRENDAi3.5.3.15 2681
ReactomeiR-HSA-3247509 Chromatin modifying enzymes

Miscellaneous databases

GeneWikiiPADI3
GenomeRNAii51702
PROiPR:Q9ULW8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142619 Expressed in 37 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_PADI3
GenevisibleiQ9ULW8 HS

Family and domain databases

Gene3Di2.60.40.1700, 1 hit
2.60.40.1860, 1 hit
InterProiView protein in InterPro
IPR008972 Cupredoxin
IPR004303 PAD
IPR013530 PAD_C
IPR036556 PAD_central_sf
IPR013732 PAD_N
IPR038685 PAD_N_sf
IPR013733 Prot_Arg_deaminase_cen_dom
PANTHERiPTHR10837 PTHR10837, 1 hit
PfamiView protein in Pfam
PF03068 PAD, 1 hit
PF08527 PAD_M, 1 hit
PF08526 PAD_N, 1 hit
PIRSFiPIRSF001247 Protein-arginine_deiminase, 1 hit
SUPFAMiSSF110083 SSF110083, 1 hit
SSF49503 SSF49503, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPADI3_HUMAN
AccessioniPrimary (citable) accession number: Q9ULW8
Secondary accession number(s): Q58EY7, Q70SX5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: December 21, 2004
Last modified: November 7, 2018
This is version 149 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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