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UniProtKB - Q8TAB3 (PCD19_HUMAN)

Entry version 158 (08 May 2019)
Sequence version 3 (16 Aug 2005)
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Protein

Protocadherin-19

Gene

PCDH19

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Potential calcium-dependent cell-adhesion protein.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion
LigandCalcium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protocadherin-19
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PCDH19
Synonyms:KIAA1313
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14270 PCDH19

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300460 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TAB3

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini22 – 678ExtracellularSequence analysisAdd BLAST657
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei679 – 699HelicalSequence analysisAdd BLAST21
Topological domaini700 – 1148CytoplasmicSequence analysisAdd BLAST449

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epileptic encephalopathy, early infantile, 9 (EIEE9)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06747225L → P in EIEE9. 1 Publication1
Natural variantiVAR_06747372V → G in EIEE9. 1 Publication1
Natural variantiVAR_06484081L → R in EIEE9. 1 Publication1
Natural variantiVAR_064481121D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar.1
Natural variantiVAR_064841141A → ASEA in EIEE9. 1
Natural variantiVAR_064842146T → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar.1
Natural variantiVAR_067474153A → T in EIEE9. 1 Publication1
Natural variantiVAR_078722158 – 1148Missing in EIEE9. 1 PublicationAdd BLAST991
Natural variantiVAR_067475190L → R in EIEE9. 1 Publication1
Natural variantiVAR_067476191V → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar.1
Natural variantiVAR_064482199E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064483203H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication1
Natural variantiVAR_064484206F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631Ensembl.1
Natural variantiVAR_064843206F → Y in EIEE9. 1 Publication1
Natural variantiVAR_078723230D → N in EIEE9; unknown pathological significance. 1 Publication1
Natural variantiVAR_067477232N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar.1
Natural variantiVAR_067478234N → S in EIEE9. 1 Publication1
Natural variantiVAR_078724236P → L in EIEE9. 1 Publication1
Natural variantiVAR_067479236P → S in EIEE9. 1 Publication1
Natural variantiVAR_064844249E → D in EIEE9. 1 Publication1
Natural variantiVAR_067480262A → D in EIEE9. 1 Publication1
Natural variantiVAR_064485276S → P in EIEE9. 1 Publication1
Natural variantiVAR_064486340N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar.1
Natural variantiVAR_064845341D → E in EIEE9. 1 Publication1
Natural variantiVAR_067481344P → R in EIEE9. 1 Publication1
Natural variantiVAR_067482377D → E in EIEE9. 1 Publication1
Natural variantiVAR_064487377D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064488404T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064489414E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_067483433L → P in EIEE9. 1 Publication1
Natural variantiVAR_046484441V → E in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar.1
Natural variantiVAR_067484513G → R in EIEE9. 1 Publication1
Natural variantiVAR_064490543L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_046485557N → K in EIEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar.1
Natural variantiVAR_064846561P → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar.1
Natural variantiVAR_064847567P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar.1
Natural variantiVAR_064848618D → N in EIEE9. 1 Publication1
Natural variantiVAR_067485642V → M in EIEE9. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		57526

MalaCards human disease database

More...MalaCardsi		PCDH19
MIMi300088 phenotype

Open Targets

More...OpenTargetsi		ENSG00000165194

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		33069 Dravet syndrome
101039 Female restricted epilepsy with intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33003

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PCDH19

Domain mapping of disease mutations (DMDM)

More...DMDMi		73620979

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 21Sequence analysisAdd BLAST21
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000400322 – 1148Protocadherin-19Add BLAST1127

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi261N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi420N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi485N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi546N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi570N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi676N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TAB3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TAB3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TAB3

PeptideAtlas

More...PeptideAtlasi		Q8TAB3

PRoteomics IDEntifications database

More...PRIDEi		Q8TAB3

ProteomicsDB human proteome resource

More...ProteomicsDBi		73850
73851 [Q8TAB3-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q8TAB3-3 [Q8TAB3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TAB3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TAB3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165194 Expressed in 126 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TAB3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8TAB3 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA027533

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		121586, 3 interactors

Protein interaction database and analysis system

More...IntActi		Q8TAB3, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000362125

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8TAB3

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini22 – 129Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini130 – 238Cadherin 2PROSITE-ProRule annotationAdd BLAST109
Domaini239 – 346Cadherin 3PROSITE-ProRule annotationAdd BLAST108
Domaini350 – 453Cadherin 4PROSITE-ProRule annotationAdd BLAST104
Domaini454 – 563Cadherin 5PROSITE-ProRule annotationAdd BLAST110
Domaini569 – 672Cadherin 6PROSITE-ProRule annotationAdd BLAST104

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3594 Eukaryota
ENOG410XQHI LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159162

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000220893

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TAB3

KEGG Orthology (KO)

More...KOi		K16499

Identification of Orthologs from Complete Genome Data

More...OMAi		PKCVISL

Database of Orthologous Groups

More...OrthoDBi		64478at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TAB3

TreeFam database of animal gene trees

More...TreeFami		TF352008

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
IPR030716 Protocadherin-19

The PANTHER Classification System

More...PANTHERi		PTHR24028:SF40 PTHR24028:SF40, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00205 CADHERIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00112 CA, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49313 SSF49313, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG 
        60         70         80         90        100
FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI 
       110        120        130        140        150
ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL 
       160        170        180        190        200
DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET 
       210        220        230        240        250
QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN 
       260        270        280        290        300
SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV 
       310        320        330        340        350
TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS 
       360        370        380        390        400
VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE 
       410        420        430        440        450
SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH 
       460        470        480        490        500
PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM 
       510        520        530        540        550
PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR 
       560        570        580        590        600
VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN 
       610        620        630        640        650
GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT 
       660        670        680        690        700
SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA 
       710        720        730        740        750
IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD 
       760        770        780        790        800
KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN 
       810        820        830        840        850
VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH 
       860        870        880        890        900
HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE 
       910        920        930        940        950
GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD 
       960        970        980        990       1000
QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA 
      1010       1020       1030       1040       1050
DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS 
      1060       1070       1080       1090       1100
VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN 
      1110       1120       1130       1140 
VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL
Note: No experimental confirmation available. Gene prediction based on EST data.
Length:1,148
Mass (Da):126,253
Last modified:August 16, 2005 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVC8A0A1B0GVC8_HUMAN
Protocadherin-19
PCDH19
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1Y8EN23A0A1Y8EN23_HUMAN
Protocadherin-19
PCDH19
7Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti868V → A in CAH18133 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06747225L → P in EIEE9. 1 Publication1
Natural variantiVAR_06747372V → G in EIEE9. 1 Publication1
Natural variantiVAR_06484081L → R in EIEE9. 1 Publication1
Natural variantiVAR_064481121D → N in EIEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar.1
Natural variantiVAR_064841141A → ASEA in EIEE9. 1
Natural variantiVAR_064842146T → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar.1
Natural variantiVAR_067474153A → T in EIEE9. 1 Publication1
Natural variantiVAR_078722158 – 1148Missing in EIEE9. 1 PublicationAdd BLAST991
Natural variantiVAR_067475190L → R in EIEE9. 1 Publication1
Natural variantiVAR_067476191V → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar.1
Natural variantiVAR_064482199E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064483203H → P in EIEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication1
Natural variantiVAR_064484206F → C in EIEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631Ensembl.1
Natural variantiVAR_064843206F → Y in EIEE9. 1 Publication1
Natural variantiVAR_078723230D → N in EIEE9; unknown pathological significance. 1 Publication1
Natural variantiVAR_067477232N → S in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar.1
Natural variantiVAR_067478234N → S in EIEE9. 1 Publication1
Natural variantiVAR_078724236P → L in EIEE9. 1 Publication1
Natural variantiVAR_067479236P → S in EIEE9. 1 Publication1
Natural variantiVAR_064844249E → D in EIEE9. 1 Publication1
Natural variantiVAR_067480262A → D in EIEE9. 1 Publication1
Natural variantiVAR_064485276S → P in EIEE9. 1 Publication1
Natural variantiVAR_064486340N → S in EIEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar.1
Natural variantiVAR_064845341D → E in EIEE9. 1 Publication1
Natural variantiVAR_067481344P → R in EIEE9. 1 Publication1
Natural variantiVAR_067482377D → E in EIEE9. 1 Publication1
Natural variantiVAR_064487377D → H in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064488404T → I in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_064489414E → Q in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_067483433L → P in EIEE9. 1 Publication1
Natural variantiVAR_046484441V → E in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar.1
Natural variantiVAR_078227447N → H Probable disease-associated mutation found in a patient with drug-resistant epilepsy. 1 Publication1
Natural variantiVAR_067484513G → R in EIEE9. 1 Publication1
Natural variantiVAR_064490543L → P in EIEE9; disease features overlapping with Dravet syndrome. 1 Publication1
Natural variantiVAR_046485557N → K in EIEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar.1
Natural variantiVAR_064846561P → R in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar.1
Natural variantiVAR_064847567P → L in EIEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar.1
Natural variantiVAR_064848618D → N in EIEE9. 1 Publication1
Natural variantiVAR_067485642V → M in EIEE9. 1 Publication1
Natural variantiVAR_064491958R → Q1 PublicationCorresponds to variant dbSNP:rs748581653EnsemblClinVar.1
Natural variantiVAR_067486980R → C1 PublicationCorresponds to variant dbSNP:rs3764758Ensembl.1
Natural variantiVAR_0674871094L → V1 PublicationCorresponds to variant dbSNP:rs184545774EnsemblClinVar.1
Natural variantiVAR_0644921107R → G2 PublicationsCorresponds to variant dbSNP:rs191333060EnsemblClinVar.1
Natural variantiVAR_0674881107R → H1 PublicationCorresponds to variant dbSNP:rs200021840Ensembl.1
Natural variantiVAR_0674891134N → H2 PublicationsCorresponds to variant dbSNP:rs141816797EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_015081716 – 762Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST47
Alternative sequenceiVSP_054046892Missing in isoform 3. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
EF676096 mRNA Translation: ABX58058.1
AL355593 Genomic DNA No translation available.
CR749278 mRNA Translation: CAH18133.1 Different initiation.
AB037734 mRNA Translation: BAA92551.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS43976.1 [Q8TAB3-2]
CCDS48141.1 [Q8TAB3-3]
CCDS55462.1 [Q8TAB3-1]

NCBI Reference Sequences

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2]
ENST00000373034; ENSP00000362125; ENSG00000165194 [Q8TAB3-1]
ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57526

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57526

UCSC genome browser

More...UCSCi		uc004efw.5 human [Q8TAB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

X-chromosome gene database Protocadherin 19 (PCDH19)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF676096 mRNA Translation: ABX58058.1
AL355593 Genomic DNA No translation available.
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]

3D structure databases

SMRiQ8TAB3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121586, 3 interactors
IntActiQ8TAB3, 2 interactors
STRINGi9606.ENSP00000362125

PTM databases

iPTMnetiQ8TAB3
PhosphoSitePlusiQ8TAB3

Polymorphism and mutation databases

BioMutaiPCDH19
DMDMi73620979

Proteomic databases

EPDiQ8TAB3
MaxQBiQ8TAB3
PaxDbiQ8TAB3
PeptideAtlasiQ8TAB3
PRIDEiQ8TAB3
ProteomicsDBi73850
73851 [Q8TAB3-2]
TopDownProteomicsiQ8TAB3-3 [Q8TAB3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2]
ENST00000373034; ENSP00000362125; ENSG00000165194 [Q8TAB3-1]
ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3]
GeneIDi57526
KEGGihsa:57526
UCSCiuc004efw.5 human [Q8TAB3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57526
DisGeNETi57526

GeneCards: human genes, protein and diseases

More...GeneCardsi		PCDH19

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0016913
HGNCiHGNC:14270 PCDH19
HPAiHPA027533
MalaCardsiPCDH19
MIMi300088 phenotype
300460 gene
neXtProtiNX_Q8TAB3
OpenTargetsiENSG00000165194
Orphaneti33069 Dravet syndrome
101039 Female restricted epilepsy with intellectual disability
PharmGKBiPA33003

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3594 Eukaryota
ENOG410XQHI LUCA
GeneTreeiENSGT00940000159162
HOGENOMiHOG000220893
InParanoidiQ8TAB3
KOiK16499
OMAiPKCVISL
OrthoDBi64478at2759
PhylomeDBiQ8TAB3
TreeFamiTF352008

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PCDH19 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		57526

Protein Ontology

More...PROi		PR:Q8TAB3

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165194 Expressed in 126 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ8TAB3 baseline and differential
GenevisibleiQ8TAB3 HS

Family and domain databases

InterProiView protein in InterPro
IPR002126 Cadherin-like_dom
IPR015919 Cadherin-like_sf
IPR020894 Cadherin_CS
IPR013164 Cadherin_N
IPR030716 Protocadherin-19
PANTHERiPTHR24028:SF40 PTHR24028:SF40, 1 hit
PfamiView protein in Pfam
PF00028 Cadherin, 5 hits
PF08266 Cadherin_2, 1 hit
PRINTSiPR00205 CADHERIN
SMARTiView protein in SMART
SM00112 CA, 6 hits
SUPFAMiSSF49313 SSF49313, 5 hits
PROSITEiView protein in PROSITE
PS00232 CADHERIN_1, 5 hits
PS50268 CADHERIN_2, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPCD19_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TAB3
Secondary accession number(s): B0LDS4
, E9PAM6, Q5JTG1, Q5JTG2, Q68DT7, Q9P2N3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: August 16, 2005
Last modified: May 8, 2019
This is version 158 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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