ENSG00000142619


Homo sapiens

Features
Gene ID: ENSG00000142619
  
Biological name :PADI3
  
Synonyms : PADI3 / peptidyl arginine deiminase 3 / Q9ULW8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p36.13
Gene start: 17249098
Gene end: 17284233
  
Corresponding Affymetrix probe sets: 220779_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000364609
NCBI entrez gene - 51702     See in Manteia.
OMIM - 606755
RefSeq - XM_017001463
RefSeq - NM_016233
RefSeq - XM_011541571
RefSeq - XM_011541572
RefSeq Peptide - NP_057317
swissprot - Q9ULW8
Ensembl - ENSG00000142619
  
Related genetic diseases (OMIM): 191480 - Uncombable hair syndrome, 191480
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Padi3ENSMUSG00000025328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PADI1 / Q9ULC6 / peptidyl arginine deiminase 1ENSG0000014262358
PADI4 / Q9UM07 / peptidyl arginine deiminase 4ENSG0000015933956
PADI2 / Q9Y2J8 / peptidyl arginine deiminase 2ENSG0000011711552
PADI6 / Q6TGC4 / peptidyl arginine deiminase 6ENSG0000027674744


Protein motifs (from Interpro)
Interpro ID Name
 IPR004303  Protein-arginine deiminase
 IPR008972  Cupredoxin
 IPR013530  Protein-arginine deiminase, C-terminal
 IPR013732  Protein-arginine deiminase (PAD) N-terminal
 IPR013733  Protein-arginine deiminase (PAD), central domain
 IPR036556  Protein-arginine deiminase, central domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006325 chromatin organization TAS
 biological_processGO:0018101 protein citrullination IMP
 biological_processGO:0036414 histone citrullination IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004668 protein-arginine deiminase activity TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Chromatin modifying enzymes


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0002208 Coarse hair 
Show

 HP:0002224 Woolly hair 
Show

 HP:0002229 Alopecia areata 
Show

 HP:0002235 Pili canaliculi "Uncombable hair." [HPO:probinson]
Show

 HP:0002552 Trichodysplasia 
Show

 HP:0011359 Dry hair "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss]
Show

 HP:0011364 White hair "Hypopigmented hair that appears white." [DDD:cmoss]
Show

 HP:0030056 Uncombable hair "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." []
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr