LOCUS       NM_013358               3846 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens peptidyl arginine deiminase 1 (PADI1), mRNA.
ACCESSION   NM_013358
VERSION     NM_013358.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3846)
  AUTHORS   Padhi,A., Srivastava,A., Ramesh,A., Ehrstrom,M., Simon,M.,
            Sonkoly,E., Eidsmo,L., Bergman,P. and Lysell,J.
  TITLE     IL-22 Downregulates Peptidylarginine Deiminase-1 in Human
            Keratinocytes: Adding Another Piece to the IL-22 Puzzle in
            Epidermal Barrier Formation
  JOURNAL   J Invest Dermatol 142 (2), 333-342 (2022)
   PUBMED   34352263
  REMARK    GeneRIF: IL-22 Downregulates Peptidylarginine Deiminase-1 in Human
            Keratinocytes: Adding Another Piece to the IL-22 Puzzle in
            Epidermal Barrier Formation.
REFERENCE   2  (bases 1 to 3846)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3846)
  AUTHORS   Coassolo,S., Davidson,G., Negroni,L., Gambi,G., Daujat,S.,
            Romier,C. and Davidson,I.
  TITLE     Citrullination of pyruvate kinase M2 by PADI1 and PADI3 regulates
            glycolysis and cancer cell proliferation
  JOURNAL   Nat Commun 12 (1), 1718 (2021)
   PUBMED   33741961
  REMARK    GeneRIF: Citrullination of pyruvate kinase M2 by PADI1 and PADI3
            regulates glycolysis and cancer cell proliferation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3846)
  AUTHORS   Mechin,M.C., Takahara,H. and Simon,M.
  TITLE     Deimination and Peptidylarginine Deiminases in Skin Physiology and
            Diseases
  JOURNAL   Int J Mol Sci 21 (2), 566 (2020)
   PUBMED   31952341
  REMARK    GeneRIF: Deimination and Peptidylarginine Deiminases in Skin
            Physiology and Diseases.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3846)
  AUTHORS   Qin,H., Liu,X., Li,F., Miao,L., Li,T., Xu,B., An,X., Muth,A.,
            Thompson,P.R., Coonrod,S.A. and Zhang,X.
  TITLE     PAD1 promotes epithelial-mesenchymal transition and metastasis in
            triple-negative breast cancer cells by regulating MEK1-ERK1/2-MMP2
            signaling
  JOURNAL   Cancer Lett 409, 30-41 (2017)
   PUBMED   28844713
  REMARK    GeneRIF: Authors showed that PAD1 interacts with and citrullinates
            MEK1 thereby disrupting MEK1-catalyzed ERK1/2 phosphorylation, thus
            leading to the MMP2 overexpression.
REFERENCE   6  (bases 1 to 3846)
  AUTHORS   Nachat,R., Mechin,M.C., Takahara,H., Chavanas,S., Charveron,M.,
            Serre,G. and Simon,M.
  TITLE     Peptidylarginine deiminase isoforms 1-3 are expressed in the
            epidermis and involved in the deimination of K1 and filaggrin
  JOURNAL   J Invest Dermatol 124 (2), 384-393 (2005)
   PUBMED   15675958
  REMARK    GeneRIF: PAD1 and 3 are able to modify filaggrin
REFERENCE   7  (bases 1 to 3846)
  AUTHORS   Chavanas,S., Mechin,M.C., Takahara,H., Kawada,A., Nachat,R.,
            Serre,G. and Simon,M.
  TITLE     Comparative analysis of the mouse and human peptidylarginine
            deiminase gene clusters reveals highly conserved non-coding
            segments and a new human gene, PADI6
  JOURNAL   Gene 330, 19-27 (2004)
   PUBMED   15087120
REFERENCE   8  (bases 1 to 3846)
  AUTHORS   Iida,A. and Nakamura,Y.
  TITLE     Identification of 45 novel SNPs in the 83-kb region containing
            peptidylarginine deiminase types 1 and 3 loci on chromosomal band
            1p36.13
  JOURNAL   J Hum Genet 49 (7), 387-390 (2004)
   PUBMED   15150696
  REMARK    GeneRIF: peptidylarginine deiminase types 1 and 3 loci map to
            chromosomal band 1p36.13
REFERENCE   9  (bases 1 to 3846)
  AUTHORS   Vossenaar,E.R., Zendman,A.J., van Venrooij,W.J. and Pruijn,G.J.
  TITLE     PAD, a growing family of citrullinating enzymes: genes, features
            and involvement in disease
  JOURNAL   Bioessays 25 (11), 1106-1118 (2003)
   PUBMED   14579251
  REMARK    Review article
REFERENCE   10 (bases 1 to 3846)
  AUTHORS   Guerrin,M., Ishigami,A., Mechin,M.C., Nachat,R., Valmary,S.,
            Sebbag,M., Simon,M., Senshu,T. and Serre,G.
  TITLE     cDNA cloning, gene organization and expression analysis of human
            peptidylarginine deiminase type I
  JOURNAL   Biochem J 370 (Pt 1), 167-174 (2003)
   PUBMED   12416996
  REMARK    GeneRIF: cloning, gene organization, and expression analysis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL590644.14 and BC130574.1.
            
            On Nov 23, 2018 this sequence version replaced NM_013358.2.
            
            Summary: 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, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK026652.1, AB033768.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375471.5/ ENSP00000364620.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                AL590644.14        49642-49660
            20-1209             BC130574.1         1-1190
            1210-1210           AL590644.14        75152-75152
            1211-2167           BC130574.1         1192-2148
            2168-3845           AL590644.14        88843-90520
            3846-3846           AL590644.14        90521-90521
FEATURES             Location/Qualifiers
     source          1..3846
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..3846
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /note="peptidyl arginine deiminase 1"
                     /db_xref="GeneID:29943"
                     /db_xref="HGNC:HGNC:18367"
                     /db_xref="MIM:607934"
     exon            1..182
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..2082
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /EC_number="3.5.3.15"
                     /note="hPAD-colony 10; peptidylarginine deiminase I;
                     protein-arginine deiminase type I; peptidyl arginine
                     deiminase, type I"
                     /codon_start=1
                     /product="protein-arginine deiminase type-1"
                     /protein_id="NP_037490.2"
                     /db_xref="CCDS:CCDS178.1"
                     /db_xref="GeneID:29943"
                     /db_xref="HGNC:HGNC:18367"
                     /db_xref="MIM:607934"
                     /translation="MAPKRVVQLSLKMPTHAVCVVGVEAHVDIHSDVPKGANSFRVSG
                     SSGVEVFMVYNRTRVKEPIGKARWPLDTDADMVVSVGTASKELKDFKVRVSYFGEQED
                     QALGRSVLYLTGVDISLEVDTGRTGKVKRSQGDKKTWRWGPEGYGAILLVNCDRDNHR
                     SAEPDLTHSWLMSLADLQDMSPMLLSCNGPDKLFDSHKLVLNVPFSDSKRVRVFCARG
                     GNSLSDYKQVLGPQCLSYEVERQPGEQEIKFYVEGLTFPDADFLGLVSLSVSLVDPGT
                     LPEVTLFTDTVGFRMAPWIMTPNTQPPEELYVCRVMDTHGSNEKFLEDMSYLTLKANC
                     KLTICPQVENRNDRWIQDEMEFGYIEAPHKSFPVVFDSPRNRGLKDFPYKRILGPDFG
                     YVTREIPLPGPSSLDSFGNLDVSPPVTVGGTEYPLGRILIGSSFPKSGGRQMARAVRN
                     FLKAQQVQAPVELYSDWLSVGHVDEFLTFVPTSDQKGFRLLLASPSACLKLFQEKKEE
                     GYGEAAQFDGLKHQAKRSINEMLADRHLQRDNLHAQKCIDWNRNVLKRELGLAESDIV
                     DIPQLFFLKNFYAEAFFPDMVNMVVLGKYLGIPKPYGPIINGRCCLEEKVQSLLEPLG
                     LHCIFIDDYLSYHELQGEIHCGTNVRRKPFPFKWWNMVP"
     exon            183..363
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            364..436
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            437..498
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            499..616
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            617..742
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            743..915
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            916..1019
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1143
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1251
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1252..1403
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1548
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1549..1642
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1722
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1723..1848
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..3846
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3818..3823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /note="hexamer: AATAAA"
     polyA_site      3846
                     /gene="PADI1"
                     /gene_synonym="HPAD10; PAD1; PDI; PDI1"
                     /note="major polyA site"
ORIGIN      
        1 agaactcaca cttcttcctg gcaaagaagt gcccaggacg ggagctgggg agccagggct
       61 gatctaggag gctgggagcc aggtgacagg atggccccaa agagagttgt gcagctgtcc
      121 ctgaagatgc ctacccatgc cgtgtgtgtg gtgggagtcg aggcacatgt ggacattcac
      181 agtgatgtgc ccaagggtgc caacagcttc agggtctctg gaagctccgg ggtggaggtc
      241 ttcatggtct acaaccgcac acgtgtgaaa gagcccatag gcaaggcccg ttggccgcta
      301 gacactgatg cagacatggt cgtatctgtg ggcacagcca gtaaggaatt aaaggacttc
      361 aaggtgaggg tctcctactt tggggagcag gaagaccaag ctctgggccg cagcgtgctt
      421 tacctcactg gcgtcgatat ttcccttgag gttgacacag gccgcacagg caaggtgaag
      481 aggagccaag gggacaagaa aacctggcgc tggggccctg agggctatgg ggctatcttg
      541 ctggtgaact gtgaccggga caatcacagg tccgcagagc ctgacctcac ccacagctgg
      601 ctgatgtcgc tggctgacct gcaggacatg tccccaatgc tgctgagctg caatggcccc
      661 gacaagctct tcgacagcca caagcttgtc ttgaacgtgc ccttttctga ttccaaaaga
      721 gtgagggtct tctgtgccag gggtgggaat tctctctcgg actacaaaca ggtgctgggg
      781 ccccagtgtc tgtcctatga agttgagcga cagccagggg agcaggagat caagttctat
      841 gtggaggggc tgaccttccc cgatgccgat ttcctagggc tggtttccct cagtgtcagc
      901 ctggtggacc cggggaccct gcccgaggtg accctcttca cagacactgt gggcttccgc
      961 atggccccct ggatcatgac gcccaacact cagcctcctg aggagctgta tgtgtgcaga
     1021 gtgatggaca ctcatggctc caatgagaaa ttcctggagg acatgtctta tctgacattg
     1081 aaagccaact gcaagctgac catctgccct caagttgaaa atcgaaatga ccgctggatc
     1141 caggacgaga tggagtttgg ctacatcgag gcccctcaca aatccttccc cgtggtcttt
     1201 gactccccca ggaacagggg cctgaaagat ttcccctata agaggatcct gggtcctgac
     1261 tttggatatg ttacccggga gatcccgctc cctggtccct ccagccttga ctccttcggc
     1321 aacctggacg tcagcccgcc cgtcacggtg ggcggcacgg aataccccct gggccggatc
     1381 ctcatcggga gcagcttccc caagtccggt gggcggcaga tggccagggc agtgcggaac
     1441 ttcctgaagg cacagcaggt gcaggcaccc gtggagctct actcggactg gctctctgtg
     1501 ggccatgtgg acgagtttct gacctttgtg cctacctctg accaaaaggg cttccggctg
     1561 ctcctggcta gccccagcgc ttgcctcaaa ctcttccaag agaagaaaga agagggttat
     1621 ggggaggcag cccagtttga tgggttaaaa caccaggcaa aaagaagcat taatgagatg
     1681 ctggcagaca gacacctcca gagagacaat cttcatgcac agaaatgcat tgactggaac
     1741 cgtaatgtgc tgaagcggga gctgggcctg gcagagagtg acatcgtgga cattccccag
     1801 ctcttcttcc tgaaaaactt ctacgcggaa gccttcttcc cagacatggt taacatggtg
     1861 gtcttaggca agtacctggg catccccaag ccctacgggc ccatcatcaa tggccgctgc
     1921 tgcctggagg agaaggtgca gtccctgctg gagcctctgg gcctgcactg catcttcatt
     1981 gatgactact tgtcctacca cgagctgcag ggggagatcc actgtggcac caacgtgcgc
     2041 aggaagccct ttcccttcaa atggtggaac atggtgccct gagcctgccc ccacccgcca
     2101 tcctctctgc cctcttgcta gggaaccctg ccagggtgaa ggcaaggaac aaccacctgg
     2161 cctccattct cttgggggag tcttggcact ttgcaaacat cctggccacc atgggcacca
     2221 ggacacaggg atggatacca cctaccctcg cctctggaat ggcctaccca acccgagaag
     2281 aatgcacctc attcttccct ggcctctttc ccacccacag cccccagagg ctctagatca
     2341 acaatgttag catgttccag aatggctgtg ggaggcctag ggagatgggc cccacttaga
     2401 attgctcccc cttcattctg atgcctccct ggggaacaag gataatgact ttgcatctgc
     2461 acctggaacg gggcctgggg gacctggggt ctggtgtgcc aggcaccagg ctgcctctgc
     2521 tcttggaaaa ctaggaaagg ggatcagaaa catcctctcc ccgctctagg tttcttctcc
     2581 caaaggggac ccaaggctgt gacacttacc tccaccccca tccagcaccc ttcagctgtg
     2641 tgtggacaaa caaggacaga aaaacccagt gtccaagggc caatttaaat agaaaaaaag
     2701 acaacaaaat tttaatagct gactccgacc tcagaagagt gattgctacc tttctggaaa
     2761 gactttaatt accagagctg gcttctccca gctcagaaat gctgagaagc caacgtgagg
     2821 cctgaggaca cacaaaggat gacggggcag gaggggatga ggtcagggta gcagagtgtg
     2881 tgacgacgga tttgggggcc tagaggtgtc cgtggttcct gggctgggat tttggactct
     2941 ggatttgaag ggagctggag cttccagatg tagcaggggt agggggccag atgttagaag
     3001 agggtgtgtg tgttgggagg aaattaggtt atctctgaag gtggagttta atttccttta
     3061 atagtcttta attattcccc ttcattctgc aggcagtggg aggggaaggc ttgcccggtc
     3121 tctctcagca acccagggac cctgcacata gcttaggttt catccctgaa taaaccgctg
     3181 tgcaggccca tgtcccctcc cacagtaggg aagacagctg ccacgggagg ttaatagccc
     3241 ggagtgaggt cactgagaca tgcacaggca ggctggttca gctgggctgc agggcacggg
     3301 caggaggaag ccagcctacc ctcttccccc actgccagtg aggccattgt agggcagttg
     3361 gccctagggc ttcggtccat ctaggttttc agtggcccct gctgagacct cacactgagc
     3421 caactactgt cactgtttta accaacaaaa gctagcctgg aactgctatg gttaaagtgg
     3481 gtgagcggga acctgaaaat ccccttctgg aaggttctac agaactctat ttgcaagctc
     3541 ctgctttaac ctgagcgtcc tctgctcagg atcatacccc agcctgcact gagtcaagaa
     3601 ggagaaggag gctctgaagg ggccgggggt gtgagctggg gttgggactc ccctgagaaa
     3661 gagctgtggg taggaaggga gtgagcattg cagagatagg gctgggggtc ggggccacac
     3721 tgagtgtggg aagctctgga gttgctgctg ggccatcgag gggccctggt gttggctctg
     3781 agaatgttct gggtgaccag tcacctactt tctgatcaat aaaaatgtcg acatgcattt
     3841 cttaca
//
