Protocadherin-19

Details

Name
Protocadherin-19
Kind
protein
Synonyms
  • KIAA1313
Gene Name
PCDH19
UniProtKB Entry
Q8TAB3Swiss-Prot
Organism
Humans
NCBI Taxonomy ID
9606
Amino acid sequence
>lcl|BSEQ0009843|Protocadherin-19
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASA
FRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIK
DLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKT
RGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSE
STYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTV
TGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSE
SAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN
LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDP
DLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGL
PSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGEN
GRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLI
YLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLT
ITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKK
ISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT
RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLE
GNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREE
CRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGK
DVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPS
VSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGV
KRLKDIVL
Number of residues
1148
Molecular Weight
126251.425
Theoretical pI
Not Available
GO Classification
Processes
cell adhesion
General Function
Calcium-dependent cell-adhesion protein
Specific Function
calcium ion binding
Pfam Domain Function
Signal Regions
1-21
Transmembrane Regions
679-699
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0017846|Protocadherin-19 (PCDH19)
ATGGAGTCGCTCCTGCTGCCGGTGCTGCTGCTGCTGGCCATACTGTGGACGCAGGCTGCC
GCCCTCATTAATCTCAAGTACTCGGTAGAAGAGGAGCAGCGCGCCGGGACGGTGATTGCC
AACGTGGCCAAAGACGCGCGAGAGGCGGGCTTCGCGCTGGACCCCCGGCAGGCTTCAGCC
TTTCGCGTGGTGTCCAACTCGGCTCCACACCTAGTGGACATCAATCCCAGCTCTGGCCTG
CTGGTCACCAAGCAGAAGATTGACCGTGATCTGCTGTGCCGCCAGAGCCCCAAGTGCATC
ATCTCGCTCGAGGTCATGTCCAGCTCAATGGAAATCTGCGTGATAAAGGTGGAGATCAAG
GACCTGAACGACAATGCGCCCAGTTTCCCGGCAGCACAGATCGAGCTGGAGATCTCGGAG
GCAGCCAGCCCTGGCACGCGCATCCCGCTGGACAGCGCTTACGATCCAGACTCAGGAAGC
TTTGGCGTGCAGACTTACGAGCTCACGCCCAACGAGCTGTTCGGCCTGGAGATCAAGACG
CGCGGCGACGGCTCCCGCTTTGCCGAACTCGTGGTGGAAAAGAGCCTGGACCGCGAGACG
CAGTCGCACTACAGCTTCCGAATCACTGCGCTAGACGGTGGCGACCCGCCGCGCCTGGGC
ACCGTTGGCCTTAGTATCAAGGTGACCGACTCCAATGACAACAACCCGGTGTTTAGCGAG
TCCACCTACGCGGTGAGCGTGCCAGAAAACTCGCCTCCCAACACACCCGTCATCCGCCTC
AACGCCAGCGATCCAGACGAGGGCACCAACGGCCAGGTGGTCTACTCCTTCTATGGCTAC
GTCAACGACCGCACGCGCGAGCTCTTTCAGATCGACCCGCACAGTGGCCTGGTCACTGTC
ACTGGCGCTTTAGACTACGAAGAGGGGCACGTGTACGAACTGGACGTGCAGGCTAAGGAC
TTGGGGCCCAATTCCATCCCGGCACACTGCAAGGTCACCGTCAGCGTGCTGGACACCAAT
GACAATCCGCCGGTCATCAACCTGCTGTCAGTCAACAGTGAGCTTGTGGAGGTCAGCGAG
AGCGCCCCCCCGGGCTACGTGATCGCCTTGGTGCGGGTGTCTGATCGCGACTCAGGCCTC
AATGGACGTGTGCAGTGCCGTTTGCTGGGCAATGTGCCCTTTCGACTGCAGGAATATGAG
AGCTTCTCCACTATTCTGGTGGACGGACGGCTGGACCGCGAGCAGCACGACCAATACAAC
CTCACAATTCAGGCACGCGACGGCGGCGTGCCCATGCTGCAGAGTGCCAAGTCCTTTACC
GTGCTCATCACTGACGAAAATGACAACCACCCGCACTTTTCCAAGCCCTACTACCAGGTC
ATTGTGCAGGAGAACAACACGCCTGGCGCCTATCTGCTCTCTGTGTCTGCTCGCGACCCC
GACCTGGGTCTCAACGGCAGTGTCTCCTACCAGATCGTGCCGTCGCAGGTGCGGGACATG
CCTGTCTTCACCTATGTCTCCATCAATCCCAACTCAGGCGACATCTACGCGCTGCGATCC
TTTAACCACGAGCAGACCAAGGCGTTCGAATTCAAGGTGCTGGCCAAGGACGGCGGCCTT
CCCTCACTGCAAAGCAACGCTACGGTGCGGGTCATCATCCTCGACGTCAACGACAACACC
CCGGTCATCACAGCCCCACCTCTGATTAACGGCACTGCCGAGGTCTACATACCCCGCAAC
TCTGGCATAGGCTACCTGGTGACTGTTGTCAAGGCAGAAGACTACGATGAGGGCGAAAAT
GGCCGAGTCACCTACGACATGACCGAGGGCGACCGCGGCTTCTTTGAAATAGACCAGGTC
AATGGCGAAGTCAGAACCACCCGCACCTTCGGGGAGAGCTCCAAGTCCTCCTATGAGCTT
ATCGTGGTGGCTCACGACCACGGCAAGACATCTCTCTCTGCCTCTGCTCTCGTCCTAATC
TACTTGTCCCCTGCTCTCGATGCCCAAGAGTCAATGGGCTCTGTGAACTTGTCCTTGATT
TTCATTATTGCCCTGGGCTCCATTGCGGGCATCCTCTTTGTAACTATGATCTTCGTGGCA
ATCAAGTGCAAGCGAGACAACAAAGAGATCCGGACCTACAACTGCAGAATTGCTGAGTAC
TCCTATGGGCATCAAAAGAAATCAAGCAAGAAGAAAAAAATCAGTAAGAATGACATCCGC
CTGGTACCCCGGGATGTGGAGGAGACAGACAAGATGAACGTTGTCAGTTGCTCTTCCCTG
ACCTCCTCCCTCAACTATTTTGACTACCACCAGCAGACGCTGCCCCTGGGCTGCCGCCGC
TCTGAGAGCACTTTCCTGAATGTGGAGAACCAGAATACCCGCAACACCAGTGCTAACCAC
ATCTACCATCACTCTTTCAACAGCCAGGGGCCCCAGCAGCCTGACCTGATTATCAACGGT
GTGCCTCTGCCTGAGACTGAAAACTATTCTTTTGACTCCAACTACGTGAATAGCCGAGCC
CATTTAATCAAGAGCAGCTCCACCTTCAAGGACTTAGAGGGCAACAGCCTGAAGGATAGT
GGACATGAGGAGAGTGACCAAACTGACAGTGAGCATGATGTCCAGCGGAGCCTGTATTGT
GATACTGCTGTCAACGATGTGCTGAACACCAGTGTGACCTCCATGGGATCTCAGATGCCT
GATCATGATCAGAATGAAGGATTTCATTGCCGGGAAGAATGCCGGATTCTTGGCCACTCT
GACAGGTGCTGGATGCCCCGGAACCCCATGCCCATCCGTTCCAAGTCCCCTGAGCATGTG
AGGAACATCATCGCGCTGTCTATTGAAGCTACTGCTGCTGATGTCGAGGCTTATGACGAC
TGCGGCCCCACCAAACGGACTTTCGCAACCTTTGGGAAAGATGTCAGCGACCACCCGGCT
GAGGAGAGGCCTACCCTGAAAGGCAAGAGGACTGTCGATGTGACCATCTGCAGCCCCAAG
GTCAACAGCGTTATCCGGGAGGCAGGCAATGGCTGTGAGGCGATTAGCCCTGTCACCTCC
CCCCTCCACCTCAAGAGCTCTCTGCCCACCAAGCCTTCCGTGTCTTACACCATTGCCCTG
GCTCCCCCAGCCCGTGATCTGGAGCAGTATGTCAACAATGTCAACAATGGCCCTACTCGT
CCCTCTGAAGCTGAGCCCCGTGGAGCTGATAGCGAGAAAGTCATGCATGAGGTCAGCCCC
ATTCTGAAGGAAGGTCGCAACAAAGAGTCCCCTGGTGTGAAGCGTCTGAAGGATATCGTT
CTCTAA
Chromosome Location
X
Locus
Xq22.1
External Identifiers
ResourceLink
UniProtKB IDQ8TAB3
UniProtKB Entry NamePCD19_HUMAN
GeneCard IDPCDH19
HGNC IDHGNC:14270
PDB ID(s)6VFU
KEGG IDhsa:57526
NCBI Gene ID57526
General References
  1. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, Bomar J, Sutton E, Vandeleur L, Shoubridge C, Edkins S, Turner SJ, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Jones D, Lee R, Madison M, Mironenko T, Varian J, West S, Widaa S, Wray P, Teague J, Dicks E, Butler A, Menzies A, Jenkinson A, Shepherd R, Gusella JF, Afawi Z, Mazarib A, Neufeld MY, Kivity S, Lev D, Lerman-Sagie T, Korczyn AD, Derry CP, Sutherland GR, Friend K, Shaw M, Corbett M, Kim HG, Geschwind DH, Thomas P, Haan E, Ryan S, McKee S, Berkovic SF, Futreal PA, Stratton MR, Mulley JC, Gecz J: X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008 Jun;40(6):776-81. doi: 10.1038/ng.149. Epub 2008 May 11. [Article]
  2. Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR: The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. [Article]
  3. Bechtel S, Rosenfelder H, Duda A, Schmidt CP, Ernst U, Wellenreuther R, Mehrle A, Schuster C, Bahr A, Blocker H, Heubner D, Hoerlein A, Michel G, Wedler H, Kohrer K, Ottenwalder B, Poustka A, Wiemann S, Schupp I: The full-ORF clone resource of the German cDNA Consortium. BMC Genomics. 2007 Oct 31;8:399. [Article]
  4. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 2000 Feb 28;7(1):65-73. [Article]
  5. Wolverton T, Lalande M: Identification and characterization of three members of a novel subclass of protocadherins. Genomics. 2001 Aug;76(1-3):66-72. [Article]
  6. Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM: Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611. [Article]
  7. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, Benyahia B, Quelin C, Carpentier W, Julia S, Afenjar A, Gautier A, Rivier F, Meyer S, Berquin P, Helias M, Py I, Rivera S, Bahi-Buisson N, Gourfinkel-An I, Cazeneuve C, Ruberg M, Brice A, Nabbout R, Leguern E: Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381. Epub 2009 Feb 13. [Article]
  8. Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE: Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14. [Article]
  9. Marini C, Mei D, Parmeggiani L, Norci V, Calado E, Ferrari A, Moreira A, Pisano T, Specchio N, Vigevano F, Battaglia D, Guerrini R: Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology. 2010 Aug 17;75(7):646-53. doi: 10.1212/WNL.0b013e3181ed9e67. [Article]
  10. Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F: Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11. [Article]
  11. Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E: Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. [Article]
  12. Dibbens LM, Kneen R, Bayly MA, Heron SE, Arsov T, Damiano JA, Desai T, Gibbs J, McKenzie F, Mulley JC, Ronan A, Scheffer IE: Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology. 2011 Apr 26;76(17):1514-9. doi: 10.1212/WNL.0b013e318217e7b6. [Article]
  13. Higurashi N, Shi X, Yasumoto S, Oguni H, Sakauchi M, Itomi K, Miyamoto A, Shiraishi H, Kato T, Makita Y, Hirose S: PCDH19 mutation in Japanese females with epilepsy. Epilepsy Res. 2012 Mar;99(1-2):28-37. doi: 10.1016/j.eplepsyres.2011.10.014. Epub 2011 Nov 1. [Article]
  14. Depienne C, LeGuern E: PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. Hum Mutat. 2012 Apr;33(4):627-34. doi: 10.1002/humu.22029. Epub 2012 Feb 14. [Article]

Associated Data

Drug Relations
DrugDrug groupPharmacological action?TypeActionsDetails
CalciumnutraceuticalunknowntargetDetails