Seroatlas · Human Serome Atlas

PADI3

Protein-arginine deiminase type-3

Also known as: PADI3_HUMAN, PDI3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9ULW8
Gene: PADI3
Ensembl: ENSG00000142619
Chromosome: 1
Canonical length: 664 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type III enzyme modulates hair structural proteins, such as filaggrin in the hair follicle and trichohyalin in the inner root sheath, during hair follicle formation. Together with the type I enzyme, this enzyme may also play a role in terminal differentiation of the epidermis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

664 residues, UniProt reviewed canonical sequence.

>Q9ULW8|PADI3
     1  MSLQRIVRVS LEHPTSAVCV AGVETLVDIY GSVPEGTEMF EVYGTPGVDI YISPNMERGR
    61  ERADTRRWRF DATLEIIVVM NSPSNDLNDS HVQISYHSSH EPLPLAYAVL YLTCVDISLD
   121  CDLNCEGRQD RNFVDKRQWV WGPSGYGGIL LVNCDRDDPS CDVQDNCDQH VHCLQDLEDM
   181  SVMVLRTQGP AALFDDHKLV LHTSSYDAKR AQVFHICGPE DVCEAYRHVL GQDKVSYEVP
   241  RLHGDEERFF VEGLSFPDAG FTGLISFHVT LLDDSNEDFS ASPIFTDTVV FRVAPWIMTP
   301  STLPPLEVYV CRVRNNTCFV DAVAELARKA GCKLTICPQA ENRNDRWIQD EMELGYVQAP
   361  HKTLPVVFDS PRNGELQDFP YKRILGPDFG YVTREPRDRS VSGLDSFGNL EVSPPVVANG
   421  KEYPLGRILI GGNLPGSSGR RVTQVVRDFL HAQKVQPPVE LFVDWLAVGH VDEFLSFVPA
   481  PDGKGFRMLL ASPGACFKLF QEKQKCGHGR ALLFQGVVDD EQVKTISINQ VLSNKDLINY
   541  NKFVQSCIDW NREVLKRELG LAECDIIDIP QLFKTERKKA TAFFPDLVNM LVLGKHLGIP
   601  KPFGPIINGC CCLEEKVRSL LEPLGLHCTF IDDFTPYHML HGEVHCGTNV CRKPFSFKWW
   661  NMVP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PADI3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.23
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

urinary bladder: 26 nTPM
esophagus: 16 nTPM
skin: 3.4 nTPM
vagina: 3.3 nTPM
seminal vesicle: 3.2 nTPM
prostate: 2.2 nTPM

Single-cell type

papillary tip epithelial cells: 17 nCPM
urothelial cells: 9.9 nCPM
prostatic hillock cells: 8.6 nCPM
esophageal apical cells: 4.4 nCPM
choroid plexus epithelial cells: 0.3 nCPM
renal collecting duct intercalated cells: 0.3 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

amygdala: 0 nTPM
basal ganglia: 0 nTPM
cerebellum: 0 nTPM
cerebral cortex: 0 nTPM
choroid plexus: 0 nTPM
hippocampal formation: 0 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PADI3.

Disease | AllUniProt

Conditions PADI3 is implicated in, by any mechanism.

Uncombable hair syndrome 1 (UHS1) MIM:191480

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 163 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Uncombable hair syndrome 1
Central centrifugal cicatricial alopecia
PADI3-related disorder
Inborn genetic diseases

Disease | ImmuneIEDB

Conditions an epitope on PADI3 was assayed in.

rheumatoid arthritis B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.94
gnomAD pLI: 0
gnomAD missense Z: 0.17
DepMap mean gene effect: -0.01
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PADI3 as an antibody target. Whether an autoantibody or antibody against PADI3 could matter depends on whether native PADI3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PADI3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PADI3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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