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UniProtKB - Q8TAB3 (PCD19_HUMAN)
Protein
Protocadherin-19
Gene
PCDH19
Organism
Homo sapiens (Human)
Status
Functioni
Potential calcium-dependent cell-adhesion protein.
GO - Molecular functioni
- calcium ion binding Source: InterPro
GO - Biological processi
- brain development Source: InterPro
- cell adhesion Source: GO_Central
- homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
Keywordsi
Biological process | Cell adhesion |
Ligand | Calcium |
Enzyme and pathway databases
PathwayCommonsi | Q8TAB3 |
SignaLinki | Q8TAB3 |
Names & Taxonomyi
Protein namesi | Recommended name: Protocadherin-19 |
Gene namesi | Name:PCDH19 Synonyms:KIAA1313 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14270, PCDH19 |
MIMi | 300460, gene |
neXtProti | NX_Q8TAB3 |
VEuPathDBi | HostDB:ENSG00000165194 |
Subcellular locationi
Plasma membrane
- Cell membrane By similarity; Single-pass type I membrane protein By similarity
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 22 – 678 | ExtracellularSequence analysisAdd BLAST | 657 | |
Transmembranei | 679 – 699 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 700 – 1148 | CytoplasmicSequence analysisAdd BLAST | 449 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
Developmental and epileptic encephalopathy 9 (DEE9)12 Publications
The disease is caused by variants 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067472 | 25 | L → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067473 | 72 | V → G in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064840 | 81 | L → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1569316056EnsemblClinVar. | 1 | |
Natural variantiVAR_064481 | 121 | D → N in DEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar. | 1 | |
Natural variantiVAR_064841 | 141 | A → ASEA in DEE9. | 1 | |
Natural variantiVAR_064842 | 146 | T → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar. | 1 | |
Natural variantiVAR_067474 | 153 | A → T in DEE9. 1 Publication | 1 | |
Natural variantiVAR_078722 | 158 – 1148 | Missing in DEE9. 1 PublicationAdd BLAST | 991 | |
Natural variantiVAR_067475 | 190 | L → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067476 | 191 | V → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar. | 1 | |
Natural variantiVAR_064482 | 199 | E → Q in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064483 | 203 | H → P in DEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication | 1 | |
Natural variantiVAR_064484 | 206 | F → C in DEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631EnsemblClinVar. | 1 | |
Natural variantiVAR_064843 | 206 | F → Y in DEE9. 1 Publication | 1 | |
Natural variantiVAR_078723 | 230 | D → N in DEE9; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_067477 | 232 | N → S in DEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar. | 1 | |
Natural variantiVAR_067478 | 234 | N → S in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985475EnsemblClinVar. | 1 | |
Natural variantiVAR_078724 | 236 | P → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1060502176EnsemblClinVar. | 1 | |
Natural variantiVAR_067479 | 236 | P → S in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064844 | 249 | E → D in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067480 | 262 | A → D in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985448EnsemblClinVar. | 1 | |
Natural variantiVAR_064485 | 276 | S → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064486 | 340 | N → S in DEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar. | 1 | |
Natural variantiVAR_064845 | 341 | D → E in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067481 | 344 | P → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067482 | 377 | D → E in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064487 | 377 | D → H in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064488 | 404 | T → I in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064489 | 414 | E → Q in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_067483 | 433 | L → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_046484 | 441 | V → E in DEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar. | 1 | |
Natural variantiVAR_067484 | 513 | G → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064490 | 543 | L → P in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_046485 | 557 | N → K in DEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar. | 1 | |
Natural variantiVAR_064846 | 561 | P → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar. | 1 | |
Natural variantiVAR_064847 | 567 | P → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar. | 1 | |
Natural variantiVAR_064848 | 618 | D → N in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067485 | 642 | V → M in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1221643775Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Epilepsy, Mental retardationOrganism-specific databases
DisGeNETi | 57526 |
MalaCardsi | PCDH19 |
MIMi | 300088, phenotype |
OpenTargetsi | ENSG00000165194 |
Orphaneti | 33069, Dravet syndrome 101039, Female restricted epilepsy with intellectual disability |
PharmGKBi | PA33003 |
Miscellaneous databases
Pharosi | Q8TAB3, Tbio |
Chemistry databases
DrugBanki | DB01373, Calcium |
Genetic variation databases
BioMutai | PCDH19 |
DMDMi | 73620979 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 21 | Sequence analysisAdd BLAST | 21 | |
ChainiPRO_0000004003 | 22 – 1148 | Protocadherin-19Add BLAST | 1127 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 261 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 420 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 485 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 546 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 570 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 676 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q8TAB3 |
jPOSTi | Q8TAB3 |
MassIVEi | Q8TAB3 |
MaxQBi | Q8TAB3 |
PaxDbi | Q8TAB3 |
PeptideAtlasi | Q8TAB3 |
PRIDEi | Q8TAB3 |
ProteomicsDBi | 19048 73850 [Q8TAB3-1] 73851 [Q8TAB3-2] |
TopDownProteomicsi | Q8TAB3-3 [Q8TAB3-3] |
PTM databases
GlyGeni | Q8TAB3, 6 sites |
iPTMneti | Q8TAB3 |
PhosphoSitePlusi | Q8TAB3 |
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
Bgeei | ENSG00000165194, Expressed in frontal cortex and 148 other tissues |
ExpressionAtlasi | Q8TAB3, baseline and differential |
Genevisiblei | Q8TAB3, HS |
Organism-specific databases
HPAi | ENSG00000165194, Tissue enriched (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 121586, 14 interactors |
IntActi | Q8TAB3, 4 interactors |
STRINGi | 9606.ENSP00000362125 |
Miscellaneous databases
RNActi | Q8TAB3, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q8TAB3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 22 – 129 | Cadherin 1PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 130 – 238 | Cadherin 2PROSITE-ProRule annotationAdd BLAST | 109 | |
Domaini | 239 – 346 | Cadherin 3PROSITE-ProRule annotationAdd BLAST | 108 | |
Domaini | 350 – 453 | Cadherin 4PROSITE-ProRule annotationAdd BLAST | 104 | |
Domaini | 454 – 563 | Cadherin 5PROSITE-ProRule annotationAdd BLAST | 110 | |
Domaini | 569 – 672 | Cadherin 6PROSITE-ProRule annotationAdd BLAST | 104 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 901 – 921 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 1100 – 1148 | DisorderedSequence analysisAdd BLAST | 49 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 902 – 921 | Basic and acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 1112 – 1148 | Basic and acidic residuesSequence analysisAdd BLAST | 37 |
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00940000159162 |
HOGENOMi | CLU_006480_1_1_1 |
InParanoidi | Q8TAB3 |
OMAi | CWMPRVS |
OrthoDBi | 64478at2759 |
PhylomeDBi | Q8TAB3 |
TreeFami | TF352008 |
Family and domain databases
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR013164, Cadherin_N IPR030716, Protocadherin-19 |
PANTHERi | PTHR24028:SF40, PTHR24028:SF40, 1 hit |
Pfami | View protein in Pfam PF00028, Cadherin, 5 hits PF08266, Cadherin_2, 1 hit |
PRINTSi | PR00205, CADHERIN |
SMARTi | View protein in SMART SM00112, CA, 6 hits |
SUPFAMi | SSF49313, SSF49313, 5 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 5 hits PS50268, CADHERIN_2, 6 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1B0GVC8 | A0A1B0GVC8_HUMAN | Protocadherin-19 | PCDH19 | 53 | Annotation score: | ||
A0A1Y8EN23 | A0A1Y8EN23_HUMAN | Protocadherin-19 | PCDH19 | 7 | Annotation score: |
Sequence cautioni
The sequence CAH18133 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 868 | V → A in CAH18133 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067472 | 25 | L → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067473 | 72 | V → G in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064840 | 81 | L → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1569316056EnsemblClinVar. | 1 | |
Natural variantiVAR_064481 | 121 | D → N in DEE9; disease features overlapping with Dravet syndrome. 1 PublicationCorresponds to variant dbSNP:rs796052795EnsemblClinVar. | 1 | |
Natural variantiVAR_064841 | 141 | A → ASEA in DEE9. | 1 | |
Natural variantiVAR_064842 | 146 | T → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs796052799EnsemblClinVar. | 1 | |
Natural variantiVAR_067474 | 153 | A → T in DEE9. 1 Publication | 1 | |
Natural variantiVAR_078722 | 158 – 1148 | Missing in DEE9. 1 PublicationAdd BLAST | 991 | |
Natural variantiVAR_067475 | 190 | L → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067476 | 191 | V → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs753757730EnsemblClinVar. | 1 | |
Natural variantiVAR_064482 | 199 | E → Q in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064483 | 203 | H → P in DEE9; disease features overlapping with Dravet syndrome; associated with Cys-206. 1 Publication | 1 | |
Natural variantiVAR_064484 | 206 | F → C in DEE9; disease features overlapping with Dravet syndrome; associated with Pro-203. 1 PublicationCorresponds to variant dbSNP:rs746274631EnsemblClinVar. | 1 | |
Natural variantiVAR_064843 | 206 | F → Y in DEE9. 1 Publication | 1 | |
Natural variantiVAR_078723 | 230 | D → N in DEE9; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_067477 | 232 | N → S in DEE9. 1 PublicationCorresponds to variant dbSNP:rs587784299EnsemblClinVar. | 1 | |
Natural variantiVAR_067478 | 234 | N → S in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985475EnsemblClinVar. | 1 | |
Natural variantiVAR_078724 | 236 | P → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1060502176EnsemblClinVar. | 1 | |
Natural variantiVAR_067479 | 236 | P → S in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064844 | 249 | E → D in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067480 | 262 | A → D in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1555985448EnsemblClinVar. | 1 | |
Natural variantiVAR_064485 | 276 | S → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064486 | 340 | N → S in DEE9; disease features overlapping with Dravet syndrome. 5 PublicationsCorresponds to variant dbSNP:rs796052839EnsemblClinVar. | 1 | |
Natural variantiVAR_064845 | 341 | D → E in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067481 | 344 | P → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067482 | 377 | D → E in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064487 | 377 | D → H in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064488 | 404 | T → I in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_064489 | 414 | E → Q in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_067483 | 433 | L → P in DEE9. 1 Publication | 1 | |
Natural variantiVAR_046484 | 441 | V → E in DEE9. 1 PublicationCorresponds to variant dbSNP:rs132630323EnsemblClinVar. | 1 | |
Natural variantiVAR_078227 | 447 | N → H Probable disease-associated variant found in a patient with drug-resistant epilepsy. 1 Publication | 1 | |
Natural variantiVAR_067484 | 513 | G → R in DEE9. 1 Publication | 1 | |
Natural variantiVAR_064490 | 543 | L → P in DEE9; disease features overlapping with Dravet syndrome. 1 Publication | 1 | |
Natural variantiVAR_046485 | 557 | N → K in DEE9. 2 PublicationsCorresponds to variant dbSNP:rs267606933EnsemblClinVar. | 1 | |
Natural variantiVAR_064846 | 561 | P → R in DEE9. 1 PublicationCorresponds to variant dbSNP:rs796052819EnsemblClinVar. | 1 | |
Natural variantiVAR_064847 | 567 | P → L in DEE9. 1 PublicationCorresponds to variant dbSNP:rs201989363EnsemblClinVar. | 1 | |
Natural variantiVAR_064848 | 618 | D → N in DEE9. 1 Publication | 1 | |
Natural variantiVAR_067485 | 642 | V → M in DEE9. 1 PublicationCorresponds to variant dbSNP:rs1221643775Ensembl. | 1 | |
Natural variantiVAR_064491 | 958 | R → Q1 PublicationCorresponds to variant dbSNP:rs748581653EnsemblClinVar. | 1 | |
Natural variantiVAR_067486 | 980 | R → C1 PublicationCorresponds to variant dbSNP:rs3764758EnsemblClinVar. | 1 | |
Natural variantiVAR_067487 | 1094 | L → V1 PublicationCorresponds to variant dbSNP:rs184545774EnsemblClinVar. | 1 | |
Natural variantiVAR_064492 | 1107 | R → G2 PublicationsCorresponds to variant dbSNP:rs191333060EnsemblClinVar. | 1 | |
Natural variantiVAR_067488 | 1107 | R → H1 PublicationCorresponds to variant dbSNP:rs200021840EnsemblClinVar. | 1 | |
Natural variantiVAR_067489 | 1134 | N → H2 PublicationsCorresponds to variant dbSNP:rs141816797EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015081 | 716 – 762 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 47 | |
Alternative sequenceiVSP_054046 | 892 | Missing in isoform 3. Curated | 1 |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2] ENST00000373034; ENSP00000362125; ENSG00000165194 ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3] |
GeneIDi | 57526 |
KEGGi | hsa:57526 |
MANE-Selecti | ENST00000373034.8; ENSP00000362125.4; NM_001184880.2; NP_001171809.1 |
UCSCi | uc004efw.5, human [Q8TAB3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6VFU | X-ray | 3.50 | A/B/C | 22-445 | [»] | |
SMRi | Q8TAB3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121586, 14 interactors |
IntActi | Q8TAB3, 4 interactors |
STRINGi | 9606.ENSP00000362125 |
Chemistry databases
DrugBanki | DB01373, Calcium |
PTM databases
GlyGeni | Q8TAB3, 6 sites |
iPTMneti | Q8TAB3 |
PhosphoSitePlusi | Q8TAB3 |
Genetic variation databases
BioMutai | PCDH19 |
DMDMi | 73620979 |
Proteomic databases
EPDi | Q8TAB3 |
jPOSTi | Q8TAB3 |
MassIVEi | Q8TAB3 |
MaxQBi | Q8TAB3 |
PaxDbi | Q8TAB3 |
PeptideAtlasi | Q8TAB3 |
PRIDEi | Q8TAB3 |
ProteomicsDBi | 19048 73850 [Q8TAB3-1] 73851 [Q8TAB3-2] |
TopDownProteomicsi | Q8TAB3-3 [Q8TAB3-3] |
Protocols and materials databases
Antibodypediai | 429, 45 antibodies from 16 providers |
DNASUi | 57526 |
Genome annotation databases
Ensembli | ENST00000255531; ENSP00000255531; ENSG00000165194 [Q8TAB3-2] ENST00000373034; ENSP00000362125; ENSG00000165194 ENST00000420881; ENSP00000400327; ENSG00000165194 [Q8TAB3-3] |
GeneIDi | 57526 |
KEGGi | hsa:57526 |
MANE-Selecti | ENST00000373034.8; ENSP00000362125.4; NM_001184880.2; NP_001171809.1 |
UCSCi | uc004efw.5, human [Q8TAB3-1] |
Organism-specific databases
CTDi | 57526 |
DisGeNETi | 57526 |
GeneCardsi | PCDH19 |
HGNCi | HGNC:14270, PCDH19 |
HPAi | ENSG00000165194, Tissue enriched (brain) |
MalaCardsi | PCDH19 |
MIMi | 300088, phenotype 300460, gene |
neXtProti | NX_Q8TAB3 |
OpenTargetsi | ENSG00000165194 |
Orphaneti | 33069, Dravet syndrome 101039, Female restricted epilepsy with intellectual disability |
PharmGKBi | PA33003 |
VEuPathDBi | HostDB:ENSG00000165194 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3594, Eukaryota |
GeneTreei | ENSGT00940000159162 |
HOGENOMi | CLU_006480_1_1_1 |
InParanoidi | Q8TAB3 |
OMAi | CWMPRVS |
OrthoDBi | 64478at2759 |
PhylomeDBi | Q8TAB3 |
TreeFami | TF352008 |
Enzyme and pathway databases
PathwayCommonsi | Q8TAB3 |
SignaLinki | Q8TAB3 |
Miscellaneous databases
BioGRID-ORCSi | 57526, 6 hits in 657 CRISPR screens |
ChiTaRSi | PCDH19, human |
GenomeRNAii | 57526 |
Pharosi | Q8TAB3, Tbio |
PROi | PR:Q8TAB3 |
RNActi | Q8TAB3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165194, Expressed in frontal cortex and 148 other tissues |
ExpressionAtlasi | Q8TAB3, baseline and differential |
Genevisiblei | Q8TAB3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002126, Cadherin-like_dom IPR015919, Cadherin-like_sf IPR020894, Cadherin_CS IPR013164, Cadherin_N IPR030716, Protocadherin-19 |
PANTHERi | PTHR24028:SF40, PTHR24028:SF40, 1 hit |
Pfami | View protein in Pfam PF00028, Cadherin, 5 hits PF08266, Cadherin_2, 1 hit |
PRINTSi | PR00205, CADHERIN |
SMARTi | View protein in SMART SM00112, CA, 6 hits |
SUPFAMi | SSF49313, SSF49313, 5 hits |
PROSITEi | View protein in PROSITE PS00232, CADHERIN_1, 5 hits PS50268, CADHERIN_2, 6 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | PCD19_HUMAN | |
Accessioni | Q8TAB3Primary (citable) accession number: Q8TAB3 Secondary accession number(s): B0LDS4 Q9P2N3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 16, 2004 |
Last sequence update: | August 16, 2005 | |
Last modified: | February 23, 2022 | |
This is version 173 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references