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Q8TAB3 (PCD19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protocadherin-19
Gene names
Name:PCDH19
Synonyms:KIAA1313
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1148 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Potential calcium-dependent cell-adhesion protein.

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity.

Tissue specificity

Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast. Ref.1 Ref.5

Developmental stage

Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence. Ref.1

Involvement in disease

Epileptic encephalopathy, early infantile, 9 (EIEE9) [MIM:300088]: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14

Sequence similarities

Contains 6 cadherin domains.

Sequence caution

The sequence CAH18133.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAI41393.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAI41394.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epilepsy
Mental retardation
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processhomophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TAB3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: No experimental confirmation available. Gene prediction based on EST data.
Isoform 2 (identifier: Q8TAB3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     716-762: Missing.
Isoform 3 (identifier: Q8TAB3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     716-762: Missing.
     892-892: Missing.
Note: No experimental confirmation available. Gene prediction based on EST data.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 11481127Protocadherin-19
PRO_0000004003

Regions

Topological domain22 – 678657Extracellular Potential
Transmembrane679 – 69921Helical; Potential
Topological domain700 – 1148449Cytoplasmic Potential
Domain22 – 129108Cadherin 1
Domain130 – 238109Cadherin 2
Domain239 – 346108Cadherin 3
Domain350 – 453104Cadherin 4
Domain454 – 563110Cadherin 5
Domain569 – 672104Cadherin 6

Amino acid modifications

Glycosylation2611N-linked (GlcNAc...) Potential
Glycosylation4201N-linked (GlcNAc...) Potential
Glycosylation4851N-linked (GlcNAc...) Potential
Glycosylation5461N-linked (GlcNAc...) Potential
Glycosylation5701N-linked (GlcNAc...) Potential
Glycosylation6761N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence716 – 76247Missing in isoform 2 and isoform 3.
VSP_015081
Alternative sequence8921Missing in isoform 3.
VSP_054046
Natural variant251L → P in EIEE9. Ref.12
VAR_067472
Natural variant721V → G in EIEE9. Ref.13
VAR_067473
Natural variant811L → R in EIEE9. Ref.11
VAR_064840
Natural variant1211D → N in EIEE9; disease features overlapping with Dravet syndrome. Ref.7
VAR_064481
Natural variant1411A → ASEA in EIEE9.
VAR_064841
Natural variant1461T → R in EIEE9. Ref.11
VAR_064842
Natural variant1531A → T in EIEE9. Ref.14
VAR_067474
Natural variant1901L → R in EIEE9. Ref.14
VAR_067475
Natural variant1911V → L in EIEE9. Ref.13
VAR_067476
Natural variant1991E → Q in EIEE9; disease features overlapping with Dravet syndrome. Ref.7
VAR_064482
Natural variant2031H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. Ref.9
VAR_064483
Natural variant2061F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. Ref.9
VAR_064484
Natural variant2061F → Y in EIEE9. Ref.11
VAR_064843
Natural variant2321N → S in EIEE9. Ref.14
VAR_067477
Natural variant2341N → S in EIEE9. Ref.14
VAR_067478
Natural variant2361P → S in EIEE9. Ref.10
VAR_067479
Natural variant2491E → D in EIEE9. Ref.11
VAR_064844
Natural variant2621A → D in EIEE9. Ref.14
VAR_067480
Natural variant2761S → P in EIEE9. Ref.8
VAR_064485
Natural variant3401N → S in EIEE9; disease features overlapping with Dravet syndrome. Ref.7 Ref.9 Ref.10 Ref.12 Ref.13
VAR_064486
Natural variant3411D → E in EIEE9. Ref.11
VAR_064845
Natural variant3441P → R in EIEE9. Ref.14
VAR_067481
Natural variant3771D → E in EIEE9. Ref.14
VAR_067482
Natural variant3771D → H in EIEE9; disease features overlapping with Dravet syndrome. Ref.9
VAR_064487
Natural variant4041T → I in EIEE9; disease features overlapping with Dravet syndrome. Ref.9
VAR_064488
Natural variant4141E → Q in EIEE9; disease features overlapping with Dravet syndrome. Ref.9
VAR_064489
Natural variant4331L → P in EIEE9. Ref.10
VAR_067483
Natural variant4411V → E in EIEE9. Ref.1
VAR_046484
Natural variant5131G → R in EIEE9. Ref.10
VAR_067484
Natural variant5431L → P in EIEE9; disease features overlapping with Dravet syndrome. Ref.7
VAR_064490
Natural variant5571N → K in EIEE9. Ref.1 Ref.8
VAR_046485
Natural variant5611P → R in EIEE9. Ref.11
VAR_064846
Natural variant5671P → L in EIEE9. Ref.11
VAR_064847
Natural variant6181D → N in EIEE9. Ref.11
VAR_064848
Natural variant6421V → M in EIEE9. Ref.14
VAR_067485
Natural variant9581R → Q. Ref.8
VAR_064491
Natural variant9801R → C. Ref.14
Corresponds to variant rs3764758 [ dbSNP | Ensembl ].
VAR_067486
Natural variant10941L → V. Ref.14
Corresponds to variant rs184545774 [ dbSNP | Ensembl ].
VAR_067487
Natural variant11071R → G. Ref.7 Ref.8
VAR_064492
Natural variant11071R → H. Ref.13
Corresponds to variant rs200021840 [ dbSNP | Ensembl ].
VAR_067488
Natural variant11341N → H. Ref.13 Ref.14
Corresponds to variant rs141816797 [ dbSNP | Ensembl ].
VAR_067489

Experimental info

Sequence conflict8681V → A in CAH18133. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 16, 2005. Version 3.
Checksum: AF8721355A33C1C2

FASTA1,148126,253
        10         20         30         40         50         60 
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG FALDPRQASA 

        70         80         90        100        110        120 
FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI ISLEVMSSSM EICVIKVEIK 

       130        140        150        160        170        180 
DLNDNAPSFP AAQIELEISE AASPGTRIPL DSAYDPDSGS FGVQTYELTP NELFGLEIKT 

       190        200        210        220        230        240 
RGDGSRFAEL VVEKSLDRET QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE 

       250        260        270        280        290        300 
STYAVSVPEN SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 

       310        320        330        340        350        360 
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS VNSELVEVSE 

       370        380        390        400        410        420 
SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE SFSTILVDGR LDREQHDQYN 

       430        440        450        460        470        480 
LTIQARDGGV PMLQSAKSFT VLITDENDNH PHFSKPYYQV IVQENNTPGA YLLSVSARDP 

       490        500        510        520        530        540 
DLGLNGSVSY QIVPSQVRDM PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL 

       550        560        570        580        590        600 
PSLQSNATVR VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 

       610        620        630        640        650        660 
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT SLSASALVLI 

       670        680        690        700        710        720 
YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA IKCKRDNKEI RTYNCSNCLT 

       730        740        750        760        770        780 
ITCLLGCFIK GQNSKCLHCI SVSPISEEQD KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK 

       790        800        810        820        830        840 
ISKNDIRLVP RDVEETDKMN VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT 

       850        860        870        880        890        900 
RNTSANHIYH HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE 

       910        920        930        940        950        960 
GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD QNEGFHCREE 

       970        980        990       1000       1010       1020 
CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA DVEAYDDCGP TKRTFATFGK 

      1030       1040       1050       1060       1070       1080 
DVSDHPAEER PTLKGKRTVD VTICSPKVNS VIREAGNGCE AISPVTSPLH LKSSLPTKPS 

      1090       1100       1110       1120       1130       1140 
VSYTIALAPP ARDLEQYVNN VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV 


KRLKDIVL 

« Hide

Isoform 2 [UniParc].

Checksum: 7457D37FD53992B2
Show »

FASTA1,101121,101
Isoform 3 [UniParc].

Checksum: A7EAAFE2004383D7
Show »

FASTA1,100121,014

References

« Hide 'large scale' references
[1]"X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment."
Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C., Edkins S., Turner S.J., Stevens C., O'Meara S., Tofts C., Barthorpe S., Buck G., Cole J. expand/collapse author list , 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 J.F., Afawi Z., Mazarib A., Neufeld M.Y., Kivity S., Lev D., Lerman-Sagie T., Korczyn A.D., Derry C.P., Sutherland G.R., Friend K., Shaw M., Corbett M., Kim H.-G., Geschwind D.H., Thomas P., Haan E., Ryan S., McKee S., Berkovic S.F., Futreal P.A., Stratton M.R., Mulley J.C., Gecz J.
Nat. Genet. 40:776-781(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANTS EIEE9 GLU-441 AND LYS-557.
[2]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., 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 K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 482-1148 (ISOFORM 2).
Tissue: Amygdala.
[4]"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."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 704-1148 (ISOFORM 2).
Tissue: Brain.
[5]"Identification and characterization of three members of a novel subclass of protocadherins."
Wolverton T., Lalande M.
Genomics 76:66-72(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: GENE STRUCTURE, TISSUE SPECIFICITY.
[6]"Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome."
Jamal S.M., Basran R.K., Newton S., Wang Z., Milunsky J.M.
Am. J. Med. Genet. A 152:2475-2481(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EIEE9.
[7]"Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females."
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. expand/collapse author list , Bahi-Buisson N., Gourfinkel-An I., Cazeneuve C., Ruberg M., Brice A., Nabbout R., Leguern E.
PLoS Genet. 5:E1000381-E1000381(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 ASN-121; GLN-199; SER-340 AND PRO-543, VARIANT GLY-1107.
[8]"Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families."
Hynes K., Tarpey P., Dibbens L.M., Bayly M.A., Berkovic S.F., Smith R., Raisi Z.A., Turner S.J., Brown N.J., Desai T.D., Haan E., Turner G., Christodoulou J., Leonard H., Gill D., Stratton M.R., Gecz J., Scheffer I.E.
J. Med. Genet. 47:211-216(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 PRO-276 AND LYS-557, VARIANTS GLN-958 AND GLY-1107.
[9]"Protocadherin 19 mutations in girls with infantile-onset epilepsy."
Marini C., Mei D., Parmeggiani L., Norci V., Calado E., Ferrari A., Moreira A., Pisano T., Specchio N., Vigevano F., Battaglia D., Guerrini R.
Neurology 75:646-653(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 PRO-203; CYS-206; SER-340; HIS-377; ILE-404 AND GLN-414.
[10]"Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations."
Specchio N., Marini C., Terracciano A., Mei D., Trivisano M., Sicca F., Fusco L., Cusmai R., Darra F., Bernardina B.D., Bertini E., Guerrini R., Vigevano F.
Epilepsia 52:1251-1257(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 SER-236; SER-340; PRO-433 AND ARG-513.
[11]"Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females."
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. expand/collapse author list , Roubertie A., Kaminska A., Whalen S., Mignot C., Baulac S., Lesca G., Arzimanoglou A., LeGuern E.
Hum. Mutat. 32:E1959-E1975(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 ARG-81; SER-GLU-ALA-141 INS; ARG-146; TYR-206; ASP-249; GLU-341; ARG-561; LEU-567 AND ASN-618.
[12]"Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations."
Dibbens L.M., Kneen R., Bayly M.A., Heron S.E., Arsov T., Damiano J.A., Desai T., Gibbs J., McKenzie F., Mulley J.C., Ronan A., Scheffer I.E.
Neurology 76:1514-1519(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 PRO-25 AND SER-340.
[13]"PCDH19 mutation in Japanese females with epilepsy."
Higurashi N., Shi X., Yasumoto S., Oguni H., Sakauchi M., Itomi K., Miyamoto A., Shiraishi H., Kato T., Makita Y., Hirose S.
Epilepsy Res. 99:28-37(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 GLY-72; LEU-191 AND SER-340, VARIANTS HIS-1107 AND HIS-1134.
[14]"PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder."
Depienne C., Leguern E.
Hum. Mutat. 33:627-634(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EIEE9 THR-153; ARG-190; SER-232; SER-234; ASP-262; ARG-344; GLU-377 AND MET-642, VARIANTS CYS-980; VAL-1094 AND HIS-1134.
+Additional computationally mapped references.

Web resources

X-chromosome gene database Protocadherin 19 (PCDH19)

Leiden Open Variation Database (LOVD)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EF676096 mRNA. Translation: ABX58058.1.
AL355593 Genomic DNA. Translation: CAI41393.1. Different initiation.
AL355593 Genomic DNA. Translation: CAI41394.1. Different initiation.
CR749278 mRNA. Translation: CAH18133.1. Different initiation.
AB037734 mRNA. Translation: BAA92551.1.
RefSeqNP_001098713.1. NM_001105243.1.
NP_001171809.1. NM_001184880.1.
NP_065817.2. NM_020766.2.
UniGeneHs.4993.

3D structure databases

ProteinModelPortalQ8TAB3.
SMRQ8TAB3. Positions 25-667.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121586. 1 interaction.
IntActQ8TAB3. 1 interaction.
STRING9606.ENSP00000255531.

PTM databases

PhosphoSiteQ8TAB3.

Polymorphism databases

DMDM73620979.

Proteomic databases

PaxDbQ8TAB3.
PRIDEQ8TAB3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255531; ENSP00000255531; ENSG00000165194. [Q8TAB3-2]
ENST00000373034; ENSP00000362125; ENSG00000165194. [Q8TAB3-1]
ENST00000420881; ENSP00000400327; ENSG00000165194.
GeneID57526.
KEGGhsa:57526.
UCSCuc004efx.4. human. [Q8TAB3-2]
uc010nmz.3. human. [Q8TAB3-1]

Organism-specific databases

CTD57526.
GeneCardsGC0XM099546.
H-InvDBHIX0016913.
HGNCHGNC:14270. PCDH19.
HPAHPA027533.
MIM300088. phenotype.
300460. gene.
neXtProtNX_Q8TAB3.
Orphanet33069. Dravet syndrome.
101039. Female restricted epilepsy with intellectual deficit.
PharmGKBPA33003.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146048.
HOGENOMHOG000220893.
HOVERGENHBG054878.
InParanoidQ8TAB3.
KOK16499.
OMANEGFHCR.
PhylomeDBQ8TAB3.
TreeFamTF352008.

Gene expression databases

ArrayExpressQ8TAB3.
BgeeQ8TAB3.
CleanExHS_PCDH19.
GenevestigatorQ8TAB3.

Family and domain databases

Gene3D2.60.40.60. 6 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 6 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 5 hits.
PROSITEPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57526.
NextBio63918.
PROQ8TAB3.
SOURCESearch...

Entry information

Entry namePCD19_HUMAN
AccessionPrimary (citable) accession number: Q8TAB3
Secondary accession number(s): B0LDS4 expand/collapse secondary AC list , E9PAM6, Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: August 16, 2005
Last modified: April 16, 2014
This is version 115 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM