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Q8TAB3

- PCD19_HUMAN

UniProt

Q8TAB3 - PCD19_HUMAN

Protein

Protocadherin-19

Gene

PCDH19

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 120 (01 Oct 2014)
      Sequence version 3 (16 Aug 2005)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

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

    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.10 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 11481127Protocadherin-19PRO_0000004003Add
    BLAST

    Amino acid modifications

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

    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 678657ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini700 – 1148449CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei679 – 69921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

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

    Sequence similaritiesi

    Contains 6 cadherin domains.PROSITE-ProRule annotation

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti868 – 8681V → A in CAH18133. (PubMed:17974005)Curated

    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. 2 PublicationsVSP_015081Add
    BLAST
    Alternative sequencei892 – 8921Missing in isoform 3. CuratedVSP_054046

    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. [Q8TAB3-3]
    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 . [Q8TAB3-3 ]
    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

    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: October 1, 2014
    This is version 120 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