Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.
| RefSeq Version | NM_207421.3, 117414157 |
| Length | 2346 bp |
| Structure | linear |
| Update Date | 04-MAR-2010 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA. |
| Product | protein-arginine deiminase type-6 |
| Comment | Summary: Peptidylarginine deiminases (PADs, EC 3.5.3.15), including PADI6, make up a family of posttranslational protein modification enzymes that convert arginine residues to citrulline residues in the presence of calcium ions.[supplied by OMIM]. |
| RefSeq | NP_997304.3 |
| CDS | 1..2085 | Exon (1) | 1..116 | Exon (2) | 117..294 | Exon (3) | 295..367 | Exon (4) | 368..435 | Exon (5) | 436..553 | Exon (6) | 554..679 | Exon (7) | 680..858 | Exon (8) | 859..962 | Exon (9) | 963..1074 | Exon (10) | 1075..1182 | Exon (11) | 1183..1337 | Exon (12) | 1338..1494 | Exon (13) | 1495..1618 | Exon (14) | 1619..1689 | Exon (15) | 1690..1851 | Exon (16) | 1852..2346 |
| Translation | MVSVEGRAMSFQSIIHLSLDSPVHAVCVLGTEICLDLSGCAPQKCQCFTIHGSGRVLIDV
ANTVISEKEDATIWWPLSDPTYATVKMTSPSPSVDADKVSVTYYGPNEDAPVGTAVLYLT
GIEVSLEVDIYRNGQVEMSSDKQAKKKWIWGPSGWGAILLVNCNPADVGQQLEDKKTKKV
IFSEEITNLSQMTLNVQGPSCILKKYRLVLHTSKEESKKARVYWPQKDNSSTFELVLGPD
QHAYTLALLGNHLKETFYVEAIAFPSAEFSGLISYSVSLVEESQDPSIPETVLYKDTVVF
RVAPCVFIPCTQVPLEVYLCRELQLQGFVDTVTKLSEKSNSQVASVYEDPNRLGRWLQDE
MAFCYTQAPHKTTSLILDTPQAADLDEFPMKYSLSPGIGYMIQDTEDHKVASMDSIGNLM
VSPPVKVQGKEYPLGRVLIGSSFYPSAEGRAMSKTLRDFLYAQQVQAPVELYSDWLMTGH
VDEFMCFIPTDDKNEGKKGFLLLLASPSACYKLFREKQKEGYGDALLFDELRADQLLSNG
REAKTIDQLLADESLKKQNEYVEKCIHLNRDILKTELGLVEQDIIEIPQLFCLEKLTNIP
SDQQPKRSFARPYFPDLLRMIVMGKNLGIPKPFGPQIKGTCCLEEKICCLLEPLGFKCTF
INDFDCYLTEVGDICACANIRRVPFAFKWWKMVP
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| Position | Chain | Variation | Link |
| 228 | + | c, t | dbSNP:111274759 |
| 495 | + | c, t | dbSNP:6669650 |
| 620 | + | a, g | dbSNP:61766772 |
| 726 | + | c, t | dbSNP:113151411 |
| 747 | + | c, t | dbSNP:74730094 |
| 774 | + | c, t | dbSNP:115735231 |
| 775 | + | a, g | dbSNP:74834315 |
| 832..833 | + | , c | dbSNP:35811755 |
| 964 | + | , g | dbSNP:11338972 |
| 1026 | + | , g | dbSNP:68044603 |
| 1027 | + | , g | dbSNP:74327663 |
| 1027 | + | , g | dbSNP:10709483 |
| 1096..1097 | + | , c | dbSNP:35163797 |
| 1146 | + | c, t | dbSNP:112098336 |
| 1149 | + | c, t | dbSNP:12073549 |
| complement(1572) | - | g, a | dbSNP:2477149 |
| 1725 | + | a, g | dbSNP:113380913 |
| 1883 | + | g, t | dbSNP:113032325 |
| 1989 | + | c, t | dbSNP:11583480 |
| 2011 | + | a, g | dbSNP:78393373 |
| 2117 | + | a, t | dbSNP:11584277 |
| 2223 | + | a, g | dbSNP:34167614 |
| complement(2270) | - | t, c | dbSNP:2526830 |
| Title | Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits . |
| Author | 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. |
| Journal | Nat. Genet. 40 (11), 1313-1318 (2008) |
| Title | Comparative analysis of the mouse and human peptidylarginine deiminase gene clusters reveals highly conserved non-coding segments and a new human gene, PADI6 . |
| Author | Chavanas,S., Mechin,M.C., Takahara,H., Kawada,A., Nachat,R., Serre,G. and Simon,M. |
| Journal | Gene 330, 19-27 (2004) |
| Title | cDNA cloning, gene organization and expression analysis of human peptidylarginine deiminase type VI . |
| Author | 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. |
| Journal | Acta Biochim. Pol. 51 (4), 1051-1058 (2004) |
| Title | PAD, a growing family of citrullinating enzymes: genes, features and involvement in disease . |
| Author | Vossenaar,E.R., Zendman,A.J., van Venrooij,W.J. and Pruijn,G.J. |
| Journal | Bioessays 25 (11), 1106-1118 (2003) |
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