Q8TAB3 (PCD19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protocadherin-19

Gene names

Name:	PCDH19
Synonyms:	KIAA1313

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1148 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Cell adhesion
Cellular component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy Mental retardation
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	homophilic cell adhesion Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 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: Gene prediction based on EST data. No experimental confirmation available.

Isoform 2 (identifier: Q8TAB3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     716-762: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 1148	1127	Protocadherin-19		PRO_0000004003
Regions
	Topological domain	22 – 678	657	Extracellular Potential
	Transmembrane	679 – 699	21	Helical; Potential
	Topological domain	700 – 1148	449	Cytoplasmic Potential
	Domain	22 – 129	108	Cadherin 1
	Domain	130 – 238	109	Cadherin 2
	Domain	239 – 346	108	Cadherin 3
	Domain	350 – 453	104	Cadherin 4
	Domain	454 – 563	110	Cadherin 5
	Domain	569 – 672	104	Cadherin 6
Amino acid modifications
	Glycosylation	261	1	N-linked (GlcNAc...) Potential
	Glycosylation	420	1	N-linked (GlcNAc...) Potential
	Glycosylation	485	1	N-linked (GlcNAc...) Potential
	Glycosylation	546	1	N-linked (GlcNAc...) Potential
	Glycosylation	570	1	N-linked (GlcNAc...) Potential
	Glycosylation	676	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	716 – 762	47	Missing in isoform 2.		VSP_015081
	Natural variant	25	1	L → P in EIEE9. Ref.12		VAR_067472
	Natural variant	72	1	V → G in EIEE9. Ref.13		VAR_067473
	Natural variant	81	1	L → R in EIEE9. Ref.11		VAR_064840
	Natural variant	121	1	D → N in EIEE9; disease features overlapping with Dravet syndrome. Ref.7		VAR_064481
	Natural variant	141	1	A → ASEA in EIEE9.		VAR_064841
	Natural variant	146	1	T → R in EIEE9. Ref.11		VAR_064842
	Natural variant	153	1	A → T in EIEE9. Ref.14		VAR_067474
	Natural variant	190	1	L → R in EIEE9. Ref.14		VAR_067475
	Natural variant	191	1	V → L in EIEE9. Ref.13		VAR_067476
	Natural variant	199	1	E → Q in EIEE9; disease features overlapping with Dravet syndrome. Ref.7		VAR_064482
	Natural variant	203	1	H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. Ref.9		VAR_064483
	Natural variant	206	1	F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. Ref.9		VAR_064484
	Natural variant	206	1	F → Y in EIEE9. Ref.11		VAR_064843
	Natural variant	232	1	N → S in EIEE9. Ref.14		VAR_067477
	Natural variant	234	1	N → S in EIEE9. Ref.14		VAR_067478
	Natural variant	236	1	P → S in EIEE9. Ref.10		VAR_067479
	Natural variant	249	1	E → D in EIEE9. Ref.11		VAR_064844
	Natural variant	262	1	A → D in EIEE9. Ref.14		VAR_067480
	Natural variant	276	1	S → P in EIEE9. Ref.8		VAR_064485
	Natural variant	340	1	N → S in EIEE9; disease features overlapping with Dravet syndrome. Ref.7 Ref.9 Ref.10 Ref.12 Ref.13		VAR_064486
	Natural variant	341	1	D → E in EIEE9. Ref.11		VAR_064845
	Natural variant	344	1	P → R in EIEE9. Ref.14		VAR_067481
	Natural variant	377	1	D → E in EIEE9. Ref.14		VAR_067482
	Natural variant	377	1	D → H in EIEE9; disease features overlapping with Dravet syndrome. Ref.9		VAR_064487
	Natural variant	404	1	T → I in EIEE9; disease features overlapping with Dravet syndrome. Ref.9		VAR_064488
	Natural variant	414	1	E → Q in EIEE9; disease features overlapping with Dravet syndrome. Ref.9		VAR_064489
	Natural variant	433	1	L → P in EIEE9. Ref.10		VAR_067483
	Natural variant	441	1	V → E in EIEE9. Ref.1		VAR_046484
	Natural variant	513	1	G → R in EIEE9. Ref.10		VAR_067484
	Natural variant	543	1	L → P in EIEE9; disease features overlapping with Dravet syndrome. Ref.7		VAR_064490
	Natural variant	557	1	N → K in EIEE9. Ref.1 Ref.8		VAR_046485
	Natural variant	561	1	P → R in EIEE9. Ref.11		VAR_064846
	Natural variant	567	1	P → L in EIEE9. Ref.11		VAR_064847
	Natural variant	618	1	D → N in EIEE9. Ref.11		VAR_064848
	Natural variant	642	1	V → M in EIEE9. Ref.14		VAR_067485
	Natural variant	958	1	R → Q. Ref.8		VAR_064491
	Natural variant	980	1	R → C. Ref.14		VAR_067486
	Natural variant	1094	1	L → V. Ref.14		VAR_067487
	Natural variant	1107	1	R → G. Ref.7 Ref.8		VAR_064492
	Natural variant	1107	1	R → H. Ref.13		VAR_067488
	Natural variant	1134	1	N → H. Ref.13 Ref.14		VAR_067489
Experimental info
	Sequence conflict	868	1	V → A in CAH18133. Ref.3
	Sequence conflict	892	1	Missing in CAH18133. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 16, 2005. Version 3. Checksum: AF8721355A33C1C2	FASTA	1,148	126,253
	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
	Isoform 2 [UniParc]. Checksum: 7457D37FD53992B2	FASTA	1,101	121,101
	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 RTYNCRIAEY 730 740 750 760 770 780 SYGHQKKSSK KKKISKNDIR LVPRDVEETD KMNVVSCSSL TSSLNYFDYH QQTLPLGCRR 790 800 810 820 830 840 SESTFLNVEN QNTRNTSANH IYHHSFNSQG PQQPDLIING VPLPETENYS FDSNYVNSRA 850 860 870 880 890 900 HLIKSSSTFK DLEGNSLKDS GHEESDQTDS EHDVQRSLYC DTAVNDVLNT SVTSMGSQMP 910 920 930 940 950 960 DHDQNEGFHC REECRILGHS DRCWMPRNPM PIRSKSPEHV RNIIALSIEA TAADVEAYDD 970 980 990 1000 1010 1020 CGPTKRTFAT FGKDVSDHPA EERPTLKGKR TVDVTICSPK VNSVIREAGN GCEAISPVTS 1030 1040 1050 1060 1070 1080 PLHLKSSLPT KPSVSYTIAL APPARDLEQY VNNVNNGPTR PSEAEPRGAD SEKVMHEVSP 1090 1100 ILKEGRNKES PGVKRLKDIV L

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00290350. IPI00552819.
RefSeq	NP_001098713.1. NM_001105243.1. NP_001171809.1. NM_001184880.1. NP_065817.2. NM_020766.2.
UniGene	Hs.4993.
3D structure databases
ProteinModelPortal	Q8TAB3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000255531.
PTM databases
PhosphoSite	Q8TAB3.
Polymorphism databases
DMDM	73620979.
Proteomic databases
PaxDb	Q8TAB3.
PRIDE	Q8TAB3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000255531; ENSP00000255531; ENSG00000165194. ENST00000373034; ENSP00000362125; ENSG00000165194.
GeneID	57526.
KEGG	hsa:57526.
UCSC	uc004efx.4. human. uc010nmz.3. human.
Organism-specific databases
CTD	57526.
GeneCards	GC0XM099546.
H-InvDB	HIX0016913.
HGNC	HGNC:14270. PCDH19.
HPA	HPA027533.
MIM	300088. phenotype. 300460. gene.
neXtProt	NX_Q8TAB3.
Orphanet	101039. Female restricted epilepsy with intellectual deficit.
PharmGKB	PA33003.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146048.
HOGENOM	HOG000220893.
HOVERGEN	HBG054878.
InParanoid	Q8TAB3.
KO	K16499.
OMA	PDHDQNE.
OrthoDB	EOG4BK530.
Gene expression databases
ArrayExpress	Q8TAB3.
Bgee	Q8TAB3.
CleanEx	HS_PCDH19.
Genevestigator	Q8TAB3.
GermOnline	ENSG00000165194. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 6 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. IPR013164. Cadherin_N. [Graphical view]
Pfam	PF00028. Cadherin. 5 hits. PF08266. Cadherin_2. 1 hit. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 6 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 6 hits.
PROSITE	PS00232. CADHERIN_1. 5 hits. PS50268. CADHERIN_2. 6 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	57526.
NextBio	63918.
SOURCE	Search...

Entry information

Entry name

PCD19_HUMAN

Accession

Primary (citable) accession number: Q8TAB3
Secondary accession number(s): B0LDS4 , Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 16, 2004
Last sequence update:	August 16, 2005
Last modified:	May 1, 2013
This is version 106 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.