Human Gene PADI3 (ENST00000375460.3) from GENCODE V44
  Description: Homo sapiens peptidyl arginine deiminase 3 (PADI3), mRNA. (from RefSeq NM_016233)
RefSeq Summary (NM_016233): 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].
Gencode Transcript: ENST00000375460.3
Gencode Gene: ENSG00000142619.4
Transcript (Including UTRs)
   Position: hg38 chr1:17,249,098-17,284,233 Size: 35,136 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr1:17,249,138-17,283,079 Size: 33,942 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:17,249,098-17,284,233)mRNA (may differ from genome)Protein (664 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PADI3_HUMAN
DESCRIPTION: RecName: Full=Protein-arginine deiminase type-3; EC=3.5.3.15; AltName: Full=Peptidylarginine deiminase III; AltName: Full=Protein-arginine deiminase type III;
FUNCTION: Catalyzes the deimination of arginine residues of proteins.
CATALYTIC ACTIVITY: Protein L-arginine + H(2)O = protein L- citrulline + NH(3).
COFACTOR: Calcium (By similarity).
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Hair follicles, and epidermis at very low levels.
SIMILARITY: Belongs to the protein arginine deiminase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PADI3
Diseases sorted by gene-association score: uncombable hair syndrome* (1590)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.13 RPKM in Bladder
Total median expression: 32.44 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.7040-0.493 Picture PostScript Text
3' UTR -409.501154-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008972 - Cupredoxin
IPR004303 - PAD
IPR013530 - PAD_C
IPR013732 - PAD_N
IPR013733 - Prot_Arg_deaminase_cen_dom
IPR016296 - Protein-arginine_deiminase_sub

Pfam Domains:
PF03068 - Protein-arginine deiminase (PAD)
PF08527 - Protein-arginine deiminase (PAD) middle domain
PF08526 - Protein-arginine deiminase (PAD) N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9ULW8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004668 protein-arginine deiminase activity
GO:0005509 calcium ion binding
GO:0016787 hydrolase activity
GO:0042802 identical protein binding

Biological Process:
GO:0018101 protein citrullination
GO:0036414 histone citrullination

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AB026831 - Homo sapiens mRNA for peptidylarginine deiminase type III, complete cds.
BC109091 - Homo sapiens peptidyl arginine deiminase, type III, mRNA (cDNA clone MGC:126307 IMAGE:40034659), complete cds.
BC109092 - Homo sapiens peptidyl arginine deiminase, type III, mRNA (cDNA clone MGC:126308 IMAGE:40034660), complete cds.
BC041592 - Homo sapiens peptidyl arginine deiminase, type III, mRNA (cDNA clone MGC:52193 IMAGE:5431445), complete cds.
KJ893973 - Synthetic construct Homo sapiens clone ccsbBroadEn_03367 PADI3 gene, encodes complete protein.
KJ898943 - Synthetic construct Homo sapiens clone ccsbBroadEn_08337 PADI3 gene, encodes complete protein.
JD275990 - Sequence 257014 from Patent EP1572962.
JD344317 - Sequence 325341 from Patent EP1572962.
JD380536 - Sequence 361560 from Patent EP1572962.
JD330908 - Sequence 311932 from Patent EP1572962.
JD495456 - Sequence 476480 from Patent EP1572962.
JD131505 - Sequence 112529 from Patent EP1572962.
JD339196 - Sequence 320220 from Patent EP1572962.
JD094625 - Sequence 75649 from Patent EP1572962.
JD084572 - Sequence 65596 from Patent EP1572962.
JD057042 - Sequence 38066 from Patent EP1572962.
JD404718 - Sequence 385742 from Patent EP1572962.
JD037342 - Sequence 18366 from Patent EP1572962.
JD276338 - Sequence 257362 from Patent EP1572962.
JD277064 - Sequence 258088 from Patent EP1572962.
JD471315 - Sequence 452339 from Patent EP1572962.
JD200435 - Sequence 181459 from Patent EP1572962.
JD541816 - Sequence 522840 from Patent EP1572962.
JD409945 - Sequence 390969 from Patent EP1572962.
JD480083 - Sequence 461107 from Patent EP1572962.
JD361893 - Sequence 342917 from Patent EP1572962.
JD529030 - Sequence 510054 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4921 - protein citrullination

Reactome (by CSHL, EBI, and GO)

Protein Q9ULW8 (Reactome details) participates in the following event(s):

R-HSA-3247569 PADI4 deiminates Histones
R-HSA-1183128 PADIs:Ca2+ deiminate L-Arg to L-Cit in proteins
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000375460.1, ENST00000375460.2, NM_016233, PADI3_HUMAN, PDI3, Q58EY7, Q70SX5, Q9ULW8, uc001bai.1, uc001bai.2, uc001bai.3, uc001bai.4
UCSC ID: ENST00000375460.3
RefSeq Accession: NM_016233
Protein: Q9ULW8 (aka PADI3_HUMAN or PDI3_HUMAN)
CCDS: CCDS179.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.