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Q8TAB3

- PCD19_HUMAN

UniProt

Q8TAB3 - PCD19_HUMAN

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Protein

Protocadherin-19

Gene
PCDH19, KIAA1313
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Potential calcium-dependent cell-adhesion protein.

GO - Molecular functioni

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. homophilic cell adhesion Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin-19
Gene namesi
Name:PCDH19
Synonyms:KIAA1313
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:14270. PCDH19.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini22 – 678657Extracellular Reviewed predictionAdd
BLAST
Transmembranei679 – 69921Helical; Reviewed predictionAdd
BLAST
Topological domaini700 – 1148449Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.10 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251L → P in EIEE9. 1 Publication
VAR_067472
Natural varianti72 – 721V → G in EIEE9. 1 Publication
VAR_067473
Natural varianti81 – 811L → R in EIEE9. 1 Publication
VAR_064840
Natural varianti121 – 1211D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064481
Natural varianti141 – 1411A → ASEA in EIEE9.
VAR_064841
Natural varianti146 – 1461T → R in EIEE9. 1 Publication
VAR_064842
Natural varianti153 – 1531A → T in EIEE9. 1 Publication
VAR_067474
Natural varianti190 – 1901L → R in EIEE9. 1 Publication
VAR_067475
Natural varianti191 – 1911V → L in EIEE9. 1 Publication
VAR_067476
Natural varianti199 – 1991E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064482
Natural varianti203 – 2031H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication
VAR_064483
Natural varianti206 – 2061F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 Publication
VAR_064484
Natural varianti206 – 2061F → Y in EIEE9. 1 Publication
VAR_064843
Natural varianti232 – 2321N → S in EIEE9. 1 Publication
VAR_067477
Natural varianti234 – 2341N → S in EIEE9. 1 Publication
VAR_067478
Natural varianti236 – 2361P → S in EIEE9. 1 Publication
VAR_067479
Natural varianti249 – 2491E → D in EIEE9. 1 Publication
VAR_064844
Natural varianti262 – 2621A → D in EIEE9. 1 Publication
VAR_067480
Natural varianti276 – 2761S → P in EIEE9. 1 Publication
VAR_064485
Natural varianti340 – 3401N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 Publications
VAR_064486
Natural varianti341 – 3411D → E in EIEE9. 1 Publication
VAR_064845
Natural varianti344 – 3441P → R in EIEE9. 1 Publication
VAR_067481
Natural varianti377 – 3771D → E in EIEE9. 1 Publication
VAR_067482
Natural varianti377 – 3771D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064487
Natural varianti404 – 4041T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064488
Natural varianti414 – 4141E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064489
Natural varianti433 – 4331L → P in EIEE9. 1 Publication
VAR_067483
Natural varianti441 – 4411V → E in EIEE9. 1 Publication
VAR_046484
Natural varianti513 – 5131G → R in EIEE9. 1 Publication
VAR_067484
Natural varianti543 – 5431L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064490
Natural varianti557 – 5571N → K in EIEE9. 2 Publications
VAR_046485
Natural varianti561 – 5611P → R in EIEE9. 1 Publication
VAR_064846
Natural varianti567 – 5671P → L in EIEE9. 1 Publication
VAR_064847
Natural varianti618 – 6181D → N in EIEE9. 1 Publication
VAR_064848
Natural varianti642 – 6421V → M in EIEE9. 1 Publication
VAR_067485

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

MIMi300088. phenotype.
Orphaneti33069. Dravet syndrome.
101039. Female restricted epilepsy with intellectual disability.
PharmGKBiPA33003.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2121 Reviewed predictionAdd
BLAST
Chaini22 – 11481127Protocadherin-19PRO_0000004003Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi261 – 2611N-linked (GlcNAc...) Reviewed prediction
Glycosylationi420 – 4201N-linked (GlcNAc...) Reviewed prediction
Glycosylationi485 – 4851N-linked (GlcNAc...) Reviewed prediction
Glycosylationi546 – 5461N-linked (GlcNAc...) Reviewed prediction
Glycosylationi570 – 5701N-linked (GlcNAc...) Reviewed prediction
Glycosylationi676 – 6761N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8TAB3.
PaxDbiQ8TAB3.
PRIDEiQ8TAB3.

PTM databases

PhosphoSiteiQ8TAB3.

Expressioni

Tissue specificityi

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.2 Publications

Developmental stagei

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

Gene expression databases

ArrayExpressiQ8TAB3.
BgeeiQ8TAB3.
CleanExiHS_PCDH19.
GenevestigatoriQ8TAB3.

Organism-specific databases

HPAiHPA027533.

Interactioni

Protein-protein interaction databases

BioGridi121586. 1 interaction.
IntActiQ8TAB3. 1 interaction.
STRINGi9606.ENSP00000255531.

Structurei

3D structure databases

ProteinModelPortaliQ8TAB3.
SMRiQ8TAB3. Positions 25-662.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini22 – 129108Cadherin 1Add
BLAST
Domaini130 – 238109Cadherin 2Add
BLAST
Domaini239 – 346108Cadherin 3Add
BLAST
Domaini350 – 453104Cadherin 4Add
BLAST
Domaini454 – 563110Cadherin 5Add
BLAST
Domaini569 – 672104Cadherin 6Add
BLAST

Sequence similaritiesi

Contains 6 cadherin domains.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG146048.
HOGENOMiHOG000220893.
HOVERGENiHBG054878.
InParanoidiQ8TAB3.
KOiK16499.
OMAiNEGFHCR.
PhylomeDBiQ8TAB3.
TreeFamiTF352008.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 5 hits.
PROSITEiPS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8TAB3-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG     50
FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI 100
ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL 150
DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET 200
QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN 250
SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 300
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS 350
VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE 400
SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH 450
PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM 500
PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR 550
VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 600
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT 650
SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA 700
IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD 750
KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN 800
VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH 850
HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE 900
GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD 950
QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA 1000
DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS 1050
VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN 1100
VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL 1148

Note: No experimental confirmation available. Gene prediction based on EST data.

Length:1,148
Mass (Da):126,253
Last modified:August 16, 2005 - v3
Checksum:iAF8721355A33C1C2
GO
Isoform 2 (identifier: Q8TAB3-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,101
Mass (Da):121,101
Checksum:i7457D37FD53992B2
GO
Isoform 3 (identifier: Q8TAB3-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:1,100
Mass (Da):121,014
Checksum:iA7EAAFE2004383D7
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251L → P in EIEE9. 1 Publication
VAR_067472
Natural varianti72 – 721V → G in EIEE9. 1 Publication
VAR_067473
Natural varianti81 – 811L → R in EIEE9. 1 Publication
VAR_064840
Natural varianti121 – 1211D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064481
Natural varianti141 – 1411A → ASEA in EIEE9.
VAR_064841
Natural varianti146 – 1461T → R in EIEE9. 1 Publication
VAR_064842
Natural varianti153 – 1531A → T in EIEE9. 1 Publication
VAR_067474
Natural varianti190 – 1901L → R in EIEE9. 1 Publication
VAR_067475
Natural varianti191 – 1911V → L in EIEE9. 1 Publication
VAR_067476
Natural varianti199 – 1991E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064482
Natural varianti203 – 2031H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication
VAR_064483
Natural varianti206 – 2061F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 Publication
VAR_064484
Natural varianti206 – 2061F → Y in EIEE9. 1 Publication
VAR_064843
Natural varianti232 – 2321N → S in EIEE9. 1 Publication
VAR_067477
Natural varianti234 – 2341N → S in EIEE9. 1 Publication
VAR_067478
Natural varianti236 – 2361P → S in EIEE9. 1 Publication
VAR_067479
Natural varianti249 – 2491E → D in EIEE9. 1 Publication
VAR_064844
Natural varianti262 – 2621A → D in EIEE9. 1 Publication
VAR_067480
Natural varianti276 – 2761S → P in EIEE9. 1 Publication
VAR_064485
Natural varianti340 – 3401N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 Publications
VAR_064486
Natural varianti341 – 3411D → E in EIEE9. 1 Publication
VAR_064845
Natural varianti344 – 3441P → R in EIEE9. 1 Publication
VAR_067481
Natural varianti377 – 3771D → E in EIEE9. 1 Publication
VAR_067482
Natural varianti377 – 3771D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064487
Natural varianti404 – 4041T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064488
Natural varianti414 – 4141E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064489
Natural varianti433 – 4331L → P in EIEE9. 1 Publication
VAR_067483
Natural varianti441 – 4411V → E in EIEE9. 1 Publication
VAR_046484
Natural varianti513 – 5131G → R in EIEE9. 1 Publication
VAR_067484
Natural varianti543 – 5431L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication
VAR_064490
Natural varianti557 – 5571N → K in EIEE9. 2 Publications
VAR_046485
Natural varianti561 – 5611P → R in EIEE9. 1 Publication
VAR_064846
Natural varianti567 – 5671P → L in EIEE9. 1 Publication
VAR_064847
Natural varianti618 – 6181D → N in EIEE9. 1 Publication
VAR_064848
Natural varianti642 – 6421V → M in EIEE9. 1 Publication
VAR_067485
Natural varianti958 – 9581R → Q.1 Publication
VAR_064491
Natural varianti980 – 9801R → C.1 Publication
Corresponds to variant rs3764758 [ dbSNP | Ensembl ].
VAR_067486
Natural varianti1094 – 10941L → V.1 Publication
Corresponds to variant rs184545774 [ dbSNP | Ensembl ].
VAR_067487
Natural varianti1107 – 11071R → G.2 Publications
VAR_064492
Natural varianti1107 – 11071R → H.1 Publication
Corresponds to variant rs200021840 [ dbSNP | Ensembl ].
VAR_067488
Natural varianti1134 – 11341N → H.2 Publications
Corresponds to variant rs141816797 [ dbSNP | Ensembl ].
VAR_067489

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei716 – 76247Missing in isoform 2 and isoform 3. VSP_015081Add
BLAST
Alternative sequencei892 – 8921Missing in isoform 3. VSP_054046

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti868 – 8681V → A in CAH18133. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS43976.1. [Q8TAB3-2]
CCDS48141.1. [Q8TAB3-3]
CCDS55462.1. [Q8TAB3-1]
RefSeqiNP_001098713.1. NM_001105243.1. [Q8TAB3-2]
NP_001171809.1. NM_001184880.1. [Q8TAB3-1]
NP_065817.2. NM_020766.2. [Q8TAB3-3]
UniGeneiHs.4993.

Genome annotation databases

EnsembliENST00000255531; ENSP00000255531; ENSG00000165194. [Q8TAB3-2]
ENST00000373034; ENSP00000362125; ENSG00000165194. [Q8TAB3-1]
ENST00000420881; ENSP00000400327; ENSG00000165194.
GeneIDi57526.
KEGGihsa:57526.
UCSCiuc004efx.4. human. [Q8TAB3-2]
uc010nmz.3. human. [Q8TAB3-1]

Polymorphism databases

DMDMi73620979.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

X-chromosome gene database Protocadherin 19 (PCDH19)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS43976.1. [Q8TAB3-2 ]
CCDS48141.1. [Q8TAB3-3 ]
CCDS55462.1. [Q8TAB3-1 ]
RefSeqi NP_001098713.1. NM_001105243.1. [Q8TAB3-2 ]
NP_001171809.1. NM_001184880.1. [Q8TAB3-1 ]
NP_065817.2. NM_020766.2. [Q8TAB3-3 ]
UniGenei Hs.4993.

3D structure databases

ProteinModelPortali Q8TAB3.
SMRi Q8TAB3. Positions 25-662.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121586. 1 interaction.
IntActi Q8TAB3. 1 interaction.
STRINGi 9606.ENSP00000255531.

PTM databases

PhosphoSitei Q8TAB3.

Polymorphism databases

DMDMi 73620979.

Proteomic databases

MaxQBi Q8TAB3.
PaxDbi Q8TAB3.
PRIDEi Q8TAB3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000255531 ; ENSP00000255531 ; ENSG00000165194 . [Q8TAB3-2 ]
ENST00000373034 ; ENSP00000362125 ; ENSG00000165194 . [Q8TAB3-1 ]
ENST00000420881 ; ENSP00000400327 ; ENSG00000165194 .
GeneIDi 57526.
KEGGi hsa:57526.
UCSCi uc004efx.4. human. [Q8TAB3-2 ]
uc010nmz.3. human. [Q8TAB3-1 ]

Organism-specific databases

CTDi 57526.
GeneCardsi GC0XM099546.
H-InvDB HIX0016913.
HGNCi HGNC:14270. PCDH19.
HPAi HPA027533.
MIMi 300088. phenotype.
300460. gene.
neXtProti NX_Q8TAB3.
Orphaneti 33069. Dravet syndrome.
101039. Female restricted epilepsy with intellectual disability.
PharmGKBi PA33003.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG146048.
HOGENOMi HOG000220893.
HOVERGENi HBG054878.
InParanoidi Q8TAB3.
KOi K16499.
OMAi NEGFHCR.
PhylomeDBi Q8TAB3.
TreeFami TF352008.

Miscellaneous databases

GenomeRNAii 57526.
NextBioi 63918.
PROi Q8TAB3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8TAB3.
Bgeei Q8TAB3.
CleanExi HS_PCDH19.
Genevestigatori Q8TAB3.

Family and domain databases

Gene3Di 2.60.40.60. 6 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR013164. Cadherin_N.
[Graphical view ]
Pfami PF00028. Cadherin. 5 hits.
PF08266. Cadherin_2. 1 hit.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 6 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 5 hits.
PROSITEi PS00232. CADHERIN_1. 5 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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. 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. 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.

Entry informationi

Entry nameiPCD19_HUMAN
AccessioniPrimary (citable) accession number: Q8TAB3
Secondary accession number(s): B0LDS4
, E9PAM6, Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: August 16, 2005
Last modified: September 3, 2014
This is version 119 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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