LOCUS       NM_207421               2396 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens peptidyl arginine deiminase 6 (PADI6), mRNA.
ACCESSION   NM_207421
VERSION     NM_207421.4
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 2396)
  AUTHORS   Williams,J.P.C., Mouilleron,S., Trapero,R.H., Bertran,M.T.,
            Marsh,J.A. and Walport,L.J.
  TITLE     Structural insight into the function of human peptidyl arginine
            deiminase 6
  JOURNAL   Comput Struct Biotechnol J 23, 3258-3269 (2024)
   PUBMED   39286527
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   Ranaivoson,F.M., Bande,R., Cardaun,I., De Riso,A., Gartner,A.,
            Loke,P., Reinisch,C., Vogirala,P. and Beaumont,E.
  TITLE     Crystal structure of human peptidylarginine deiminase type VI
            (PAD6) provides insights into its inactivity
  JOURNAL   IUCrJ 11 (Pt 3), 395-404 (2024)
   PUBMED   38656308
  REMARK    GeneRIF: Crystal structure of human peptidylarginine deiminase type
            VI (PAD6) provides insights into its inactivity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Zhang,M., Bi,X., Ge,B., Wei,H., Gong,L., Wang,J. and Wang,B.
  TITLE     Case report: human early embryonic arrest in a consanguineous
            Chinese family caused by a novel missense variant of PADI6
  JOURNAL   QJM 116 (9), 784-786 (2023)
   PUBMED   37220902
  REMARK    GeneRIF: Case report: human early embryonic arrest in a
            consanguineous Chinese family caused by a novel missense variant of
            PADI6.
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   Dong,J., Fu,J., Yan,Z., Li,L., Qiu,Y., Zeng,Y., Liu,R., Chen,B.,
            Shi,R., Diao,F., Wang,L., Shi,Q. and Sang,Q.
  TITLE     Novel biallelic mutations in PADI6 in patients with early embryonic
            arrest
  JOURNAL   J Hum Genet 67 (5), 285-293 (2022)
   PUBMED   34987164
  REMARK    GeneRIF: Novel biallelic mutations in PADI6 in patients with early
            embryonic arrest.
REFERENCE   5  (bases 1 to 2396)
  AUTHORS   Rose,R., Rose,M. and Ottmann,C.
  TITLE     Identification and structural characterization of two 14-3-3
            binding sites in the human peptidylarginine deiminase type VI
  JOURNAL   J Struct Biol 180 (1), 65-72 (2012)
   PUBMED   22634725
  REMARK    GeneRIF: Crystallographic determination of 14-3-3-sigma binding
            sites in the human peptidylarginine deiminase type VI.
REFERENCE   6  (bases 1 to 2396)
  AUTHORS   Giles,J.T., Fert-Bober,J., Park,J.K., Bingham,C.O. 3rd, Andrade,F.,
            Fox-Talbot,K., Pappas,D., Rosen,A., van Eyk,J., Bathon,J.M. and
            Halushka,M.K.
  TITLE     Myocardial citrullination in rheumatoid arthritis: a correlative
            histopathologic study
  JOURNAL   Arthritis Res Ther 14 (1), R39 (2012)
   PUBMED   22364592
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Stacey,S.N., Gudbjartsson,D.F., Sulem,P., Bergthorsson,J.T.,
            Kumar,R., Thorleifsson,G., Sigurdsson,A., Jakobsdottir,M.,
            Sigurgeirsson,B., Benediktsdottir,K.R., Thorisdottir,K.,
            Ragnarsson,R., Scherer,D., Rudnai,P., Gurzau,E., Koppova,K.,
            Hoiom,V., Botella-Estrada,R., Soriano,V., Juberias,P., Grasa,M.,
            Carapeto,F.J., Tabuenca,P., Gilaberte,Y., Gudmundsson,J.,
            Thorlacius,S., Helgason,A., Thorlacius,T., Jonasdottir,A.,
            Blondal,T., Gudjonsson,S.A., Jonsson,G.F., Saemundsdottir,J.,
            Kristjansson,K., Bjornsdottir,G., Sveinsdottir,S.G., Mouy,M.,
            Geller,F., Nagore,E., Mayordomo,J.I., Hansson,J., Rafnar,T.,
            Kong,A., Olafsson,J.H., Thorsteinsdottir,U. and Stefansson,K.
  TITLE     Common variants on 1p36 and 1q42 are associated with cutaneous
            basal cell carcinoma but not with melanoma or pigmentation traits
  JOURNAL   Nat Genet 40 (11), 1313-1318 (2008)
   PUBMED   18849993
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2396)
  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
  REMARK    GeneRIF: This study is the first description of the human PADI6
            gene and encoded protein, and the first step towards a better
            understanding of the coordinated regulation of PADI gene
            expression.
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   Zhang,J., Dai,J., Zhao,E., Lin,Y., Zeng,L., Chen,J., Zheng,H.,
            Wang,Y., Li,X., Ying,K., Xie,Y. and Mao,Y.
  TITLE     cDNA cloning, gene organization and expression analysis of human
            peptidylarginine deiminase type VI
  JOURNAL   Acta Biochim Pol 51 (4), 1051-1058 (2004)
   PUBMED   15625577
  REMARK    GeneRIF: Cloning, gene organization and expression of
            peptidylarginine deiminase type 6.
REFERENCE   10 (bases 1 to 2396)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY443100.1 and AY422079.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 20, 2014 this sequence version replaced NM_207421.3.
            
            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. This protein may play a role in cytoskeletal
            reorganization in the egg and in early embryo development.
            [provided by RefSeq, Sep 2012].
            
            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 :: AY443100.1, AY422079.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619609.1/ ENSP00000483125.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1387              AY443100.1         2-1388
            1388-1918           AY422079.1         1338-1868
            1919-2396           AY443100.1         1920-2397
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.13"
     gene            1..2396
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /note="peptidyl arginine deiminase 6"
                     /db_xref="GeneID:353238"
                     /db_xref="HGNC:HGNC:20449"
                     /db_xref="MIM:610363"
     exon            1..166
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             51..2135
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /EC_number="3.5.3.15"
                     /note="peptidylarginine deiminase type 6; protein-arginine
                     deiminase type-6; peptidyl arginine deiminase-like
                     protein; peptidyl arginine deiminase, type VI"
                     /codon_start=1
                     /product="inactive protein-arginine deiminase type-6"
                     /protein_id="NP_997304.3"
                     /db_xref="CCDS:CCDS72715.1"
                     /db_xref="GeneID:353238"
                     /db_xref="HGNC:HGNC:20449"
                     /db_xref="MIM:610363"
                     /translation="MVSVEGRAMSFQSIIHLSLDSPVHAVCVLGTEICLDLSGCAPQK
                     CQCFTIHGSGRVLIDVANTVISEKEDATIWWPLSDPTYATVKMTSPSPSVDADKVSVT
                     YYGPNEDAPVGTAVLYLTGIEVSLEVDIYRNGQVEMSSDKQAKKKWIWGPSGWGAILL
                     VNCNPADVGQQLEDKKTKKVIFSEEITNLSQMTLNVQGPSCILKKYRLVLHTSKEESK
                     KARVYWPQKDNSSTFELVLGPDQHAYTLALLGNHLKETFYVEAIAFPSAEFSGLISYS
                     VSLVEESQDPSIPETVLYKDTVVFRVAPCVFIPCTQVPLEVYLCRELQLQGFVDTVTK
                     LSEKSNSQVASVYEDPNRLGRWLQDEMAFCYTQAPHKTTSLILDTPQAADLDEFPMKY
                     SLSPGIGYMIQDTEDHKVASMDSIGNLMVSPPVKVQGKEYPLGRVLIGSSFYPSAEGR
                     AMSKTLRDFLYAQQVQAPVELYSDWLMTGHVDEFMCFIPTDDKNEGKKGFLLLLASPS
                     ACYKLFREKQKEGYGDALLFDELRADQLLSNGREAKTIDQLLADESLKKQNEYVEKCI
                     HLNRDILKTELGLVEQDIIEIPQLFCLEKLTNIPSDQQPKRSFARPYFPDLLRMIVMG
                     KNLGIPKPFGPQIKGTCCLEEKICCLLEPLGFKCTFINDFDCYLTEVGDICACANIRR
                     VPFAFKWWKMVP"
     exon            167..344
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            345..417
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            418..485
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            486..603
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            604..729
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            730..908
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            909..1012
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1124
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1232
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1233..1387
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1544
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1668
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1739
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1901
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1902..2396
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2371..2376
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PADI6"
                     /gene_synonym="hPADVI; OZEMA16; PREMBL2"
ORIGIN      
        1 gggcgtctga ggctgctgtg ctgagtgagg gctgcggtgc aggcctgagg atggtcagcg
       61 tggagggccg agccatgtcc ttccagagta tcatccacct gtccctggac agccctgtcc
      121 atgccgtttg tgtgttgggc acagaaatct gcttggatct cagcgggtgt gccccccaga
      181 agtgccagtg cttcaccatc catggctctg ggagggtctt gatcgatgtg gccaacacgg
      241 tgatttctga gaaggaggac gccaccatct ggtggcccct gtctgatccc acgtacgcca
      301 cagtgaagat gacatcgccc agcccttccg tggatgcgga taaggtctcg gtcacatact
      361 atgggcccaa cgaggatgcc cccgtgggca cagctgtgct gtacctcact ggcattgagg
      421 tctctctaga ggtagacatc taccgcaatg ggcaagttga gatgtcaagt gacaaacagg
      481 ctaagaaaaa atggatctgg ggtcccagcg gttggggtgc catcctgctt gtgaattgca
      541 accctgctga tgtgggccag caacttgagg acaagaaaac caagaaagtg atcttttcag
      601 aggaaataac gaatctgtcc cagatgactc tgaatgtcca aggccccagc tgtatcttaa
      661 agaaatatcg gctagtcctc catacctcca aggaagagtc gaagaaggcg agagtctact
      721 ggccccaaaa agacaactcc agtacctttg agttggtgct ggggcccgac cagcacgcct
      781 ataccttggc cctcctcggg aaccacttga aggagacttt ctacgttgaa gctatagcat
      841 tcccatctgc cgaattctca ggcctcatct cctactctgt gtccctggtg gaggagtctc
      901 aagacccgtc aattccagag actgtgctgt acaaagacac ggtggtgttc cgggtggctc
      961 cctgtgtctt cattccctgt acccaggtgc ctctggaggt ttacctgtgc agggagctgc
     1021 agctgcaggg ttttgtggac acagtgacga agctgagtga gaagagcaac agccaggtgg
     1081 catctgtcta tgaggacccc aaccgcctgg gcaggtggct ccaggatgag atggccttct
     1141 gctacaccca ggctccccac aagacaacgt ccttgatcct cgacacacct caggccgccg
     1201 atctcgatga gttccccatg aagtactcac tgagccctgg tattggctac atgatccagg
     1261 acactgagga ccataaagtg gccagcatgg attccattgg gaacctgatg gtgtccccac
     1321 ctgtcaaggt ccaagggaaa gagtacccgc tgggcagagt cctcattggc agcagctttt
     1381 accccagcgc agagggccgg gccatgagta agaccctccg agacttcctc tatgcccagc
     1441 aggtccaagc gccggtggag ctctactcag attggctaat gactggccac gtggatgagt
     1501 tcatgtgctt catccccaca gatgacaaga atgagggcaa aaagggcttc ctgctgctcc
     1561 tggccagccc cagtgcctgc tataaactgt tccgagagaa acagaaggaa ggctatggcg
     1621 acgctcttct gtttgatgag cttagagcag atcagctcct gtctaatgga agggaagcca
     1681 aaaccatcga ccaacttctg gctgatgaaa gcctgaagaa gcagaatgaa tacgtggaga
     1741 agtgcattca cctgaaccgt gacatcctga agacggagct gggcctggtg gaacaggaca
     1801 tcatcgagat tccccagctg ttctgcttgg agaagctgac taacatcccc tctgaccagc
     1861 agcccaagag gtcctttgcg aggccatact tccctgacct gttgcggatg attgtgatgg
     1921 gcaagaacct ggggatcccc aagccttttg ggccccaaat caaggggacc tgctgcctgg
     1981 aagaaaagat ttgctgcttg ctggagcccc tgggcttcaa gtgcaccttc atcaatgact
     2041 ttgactgtta cctgacagag gtcggagaca tctgtgcctg tgccaacatc cgccgggtgc
     2101 cctttgcctt caaatggtgg aagatggtac cttagaccca ggccctggag ctgccagctc
     2161 tgccccagcg tggatggccc actgtcacca tgcaacagca tgattctttg cccagtagag
     2221 gaggctggag agtccaggca acagaaccct ttcttccctg tctgccccga ccgaccctcg
     2281 gacccagtag gatggcaaat gccgccagct tgaaccccta tggggaaaag atgcaaaagt
     2341 gttcagccaa gtgacgttta ctaaatagcc aataaagggc tggtgggtgt gaatgc
//
