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PADI1 Gene

protein-coding   GIFtS: 51

GC01P017404
peptidyl arginine deiminase, type I
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 3.5.3.15 3
HPAD10 1, 2
OTTHUMP00000002401 2
PAD1 1, 2
PDI 1, 2
PDI1 1, 2, 3
Descriptions
Peptidylarginine deiminase I 3
Protein-arginine deiminase type I 3
hPAD-colony 10 2
peptidyl arginine deiminase, type I 2
peptidylarginine deiminase type I 2
protein-arginine deiminase type-1 2
External Ids
HGNC: 183671
Entrez Gene: 299432
UniProtKB: Q9ULC63
Ensembl: ENSG000001426237
Search outside databases for aliases for PADI1 gene

Previous GC identifers: GC01P017269 GC01P016572 GC01P016912 GC01P017276

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for PADI1:
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 I enzyme is involved in the late stages of epidermal
differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the
stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in
hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided
by RefSeq]

UniProtKB/Swiss-Prot: PADI1_HUMAN, Q9ULC6
Function: Catalyzes the deimination of arginine residues of proteins (By similarity)

Gene Wiki entry for PADI1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PADI1 gene  

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

PADI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P017404:     (about GC identifiers)

Start:
17,404,208 bp from pter
End:
17,445,088 bp from pter
Size:
40,881 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004610.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PADI1_HUMAN, Q9ULC6 (See protein sequence)
Recommended Name: Protein-arginine deiminase type-1  
Size: 663 amino acids; 74666 Da
Cofactor: Calcium (By similarity)
Subcellular location: Cytoplasm
Secondary accessions: Q70SX6

REFSEQ proteins: NP_037490.2  

ENSEMBL proteins: 
ENSP00000364620 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (PADI1 / PAD1)
Human Recombinant Proteins from Abnova (PADI1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
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Antibodies for PADI1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
Browse R&D Systems for Antibodies
Antibodies from Abcam (PADI1 / PAD1), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for PADI1

Assays for PADI1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro domains/families:
 IPR013732 PAD_N
 IPR004303 PAD
 IPR016296 Protein-arginine_deiminase_sub
 IPR013530 PAD_C
 IPR013733 PAD_central


   GeneDecks  PADI1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9ULC6

ProtoNet protein and cluster: Q9ULC6

1 Blocks protein family: IPB004303 Protein-arginine deiminase

UniProtKB/Swiss-Prot: PADI1_HUMAN, Q9ULC6
Similarity: Belongs to the protein arginine deiminase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PADI1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PADI1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013358

              Applied Biosystems Silencer® siRNAs for PADI1

              Sigma-Aldrich siRNA for PADI1  
                     Sigma-Aldrich shRNA for PADI1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_013358
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_013358
                                 untagged cDNA clone in CMV expression vector: NM_013358 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_013358

UniProtKB/Swiss-Prot: PADI1_HUMAN, Q9ULC6
Function: Catalyzes the deimination of arginine residues of proteins (By similarity)
Catalytic activity: Protein L-arginine + H(2)O = protein L-citrulline + NH(3)
Enzyme Number (IUBMB): EC 3.5.3.15 

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004668 protein-arginine deiminase activity IEA--
GO:0005509 calcium ion binding IEA--
GO:0016787 hydrolase activity IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


 Gene Network CentralTM Interacting Genes and Proteins Network for  PADI1 


2 Interacting proteins for PADI1 (ENSP000003646203) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
TRIM3ENSP000003407973STRING (score=.728)
BIKENSP000002161153STRING (score=.71)
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006464 protein modification process IEA--
GO:0018101 peptidyl-citrulline biosynthetic process from peptidyl-arginine IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PADI1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PADI1)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PADI1)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_013358

              Sigma-Aldrich siRNA for PADI1  
                     Sigma-Aldrich shRNA for PADI1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_013358  

REFSEQ mRNAs for PADI1 gene: 

NM_013358.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_013358  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_013358
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_013358
                                 untagged cDNA clone in CMV expression vector: NM_013358 

Additional cDNA sequence: 

AB033768.2 AK026652.1 AK225541.1 AK293275.1 AK298538.1 AK298892.1 AK309106.1 AK314644.1 
BC130574.1 BC136402.1 

4 DOTS entries:

DT.204987  DT.121405147  DT.101976294  DT.95127162 

22 AceView cDNA sequences:

AW192295 BX284037 AI367538 AK127515 AI378607 AL698692 BQ641703 AA495868 
BM781897 AI738723 BM008704 NM_013358 AB033768 AA912338 BM050686 BF509503 
BG680542 AK026652 AI685069 AI126015 AI129820 BF757553 

highest scoring ESTs for PADI1:

AI685069 AA495868 AA912338 AB033768 AI126015 AI129820 AI367538 AI378607 AK026652 AW192295 

Unigene Cluster for PADI1:

Peptidyl arginine deiminase, type I
Hs.412941  [show with all ESTs]
Unigene Representative Sequence: AK026652


GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PADI1 (see all 6 )

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b
SP1:        -           -     -                             -                                               -     -                           
SP2:                    -     -                                                                                                               
SP3:                                                                                                                                          
SP4:        -                                                                                                                                 
SP5:                                                                                                                                          

About this scheme

ECgene alternative splicing isoforms for PADI1

1 Ensembl transcript including schematic representation:
ENST00000375471  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PADI1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PADI1

1 / 2 / 3

5 probe-sets matching PADI1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

81926_at2, 3 U95-E 1 1.00 1.00 1.00 1.00 AI685069 1.00 1.00 1.00 1

223739_at2, 3 U133-B 1 1.00 1.00 -- -- AK026652 0.80 1.00 0.91 1

220962_s_at2, 3 U133-A 2 1.00 0.95 -- -- NM_013358 0.60 1.00 0.82 1

223739_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

220962_s_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: CATTTCTTAA

SOURCE GeneReport for Unigene cluster: Hs.412941

UniProtKB/Swiss-Prot: PADI1_HUMAN, Q9ULC6
Tissue specificity: Epidermis, prostate, testis, placenta, spleen and thymus

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for PADI1 gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PADI11   -- peptidyl arginine deiminase, type I 85.22(n)
81.75(a)
608443  XM_846839.1  XP_851932.1 
cow
(Bos taurus)
PADI11   -- peptidyl arginine deiminase, type I 82.15(n)
76.77(a)
618224  XM_870552.2  XP_875645.2 
rat
(Rattus norvegicus)
Padi11   -- peptidyl arginine deiminase, type I 78(n)
76.28(a)
54282  NM_019332.1  NP_062205.1 
mouse
(Mus musculus)
Padi11, 5 4 (71.00 cM)5
peptidyl arginine deiminase, type I1, 5 78.65(n)1
77.04(a)1
185991  NM_011059.21  NP_035189.11 
 AB0138485  AB1216925  (see all 10)
chicken
(Gallus gallus)
PADI11   -- peptidyl arginine deiminase, type I 65.4(n)
59.57(a)
428171  XM_425729.2  XP_425729.2 
About this table        Species with no ortholog for PADI1

ENSEMBL Gene Tree for PADI1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for PADI1 gene
PADI22  PADI42  PADI62  PADI32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/313 NCBI SNPs in PADI1 are shown (see all 313 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 178)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs49205711,2
A,C,F,H17403941(+) TCAGGC/TACCAG 1 -- ng514Minor allele frequency- T:0.15EU EA WA 412
rs29772241,2
A,C,F,H17445376(+) TCTCTC/TCTCTC 1 -- ng318Minor allele frequency- T:0.34EU EA WA 792
rs22939101,2
C,F,H17404169(+) AGGTCG/ACAGGG 1 -- ng5113Minor allele frequency- A:0.06EA EU WA 2750
rs168242151,2
C,F,H17443278(+) CCAACG/ATGCGC 1 M/V mis1 ese311Minor allele frequency- A:0.02NA EU EA WA 966
rs112033351,2
C,H17421479(+) GGCCCG/ATTGGC 1 H/R mis1 ese38Minor allele frequency- A:0.00EU EA WA 834
rs120734451,2
F,H17444362(+) CCCGGT/CCTCTC 1 -- ut31 ese34Minor allele frequency- C:0.01EU EA WA 406
rs108880071,2
A,F17402788(+) GAGGAT/CGGGTG 1 -- ng514Minor allele frequency- C:0.42NA EA 362
--
rs66651281,2
A17402500(+) AAAAAG/TATCTT 1 -- ng510--------
rs37502991,2
F17443728(+) GGACCT/AGGGGT 1 -- ut311Minor allele frequency- A:0.04EA 1482
rs22939121,2
C,F,H,O17422708(+) GTGAGA/GGTCTC 1 R/R syn1 ese313Minor allele frequency- N:0.01EA NA EU WA 2526
About this table

HapMap Linkage Disequilibrium images for PADI1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 607934

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/18 PubMed articles for PADI1 gene (see all 18 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 29943 HGNC: 18367 AceView: PADI1 Ensembl:ENSG00000142623 euGenes: HUgn29943
ECgene: PADI1 H-InvDB: PADI1
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
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  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for PADI1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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