KEGG   Homo sapiens (human): 57526
Entry
57526             CDS       T01001                                 
Symbol
PCDH19, DEE9, EFMR, EIEE9
Name
(RefSeq) protocadherin 19
  KO
K16499  protocadherin delta 2
Organism
hsa  Homo sapiens (human)
Disease
H00606  Early infantile epileptic encephalopathy
H01775  PCDH19-related epilepsy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    57526 (PCDH19)
Cell adhesion molecules [BR:hsa04515]
 Cadherins
  Protocadherins
   57526 (PCDH19)
SSDB
Motif
Pfam: Cadherin Cadherin_2 DUF4529 Cadherin_4
Other DBs
NCBI-GeneID: 57526
NCBI-ProteinID: NP_001171809
OMIM: 300460
HGNC: 14270
Ensembl: ENSG00000165194
UniProt: Q8TAB3
Structure
Position
X:complement(100291644..100410273)
AA seq 1148 aa
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASA
FRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIK
DLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKT
RGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSE
STYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTV
TGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSE
SAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYN
LTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDP
DLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGL
PSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGEN
GRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLI
YLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLT
ITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKK
ISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNT
RNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLE
GNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREE
CRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGK
DVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPS
VSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGV
KRLKDIVL
NT seq 3447 nt   +upstreamnt  +downstreamnt
atggagtcgctcctgctgccggtgctgctgctgctggccatactgtggacgcaggctgcc
gccctcattaatctcaagtactcggtagaagaggagcagcgcgccgggacggtgattgcc
aacgtggccaaagacgcgcgagaggcgggcttcgcgctggacccccggcaggcttcagcc
tttcgcgtggtgtccaactcggctccacacctagtggacatcaatcccagctctggcctg
ctggtcaccaagcagaagattgaccgtgatctgctgtgccgccagagccccaagtgcatc
atctcgctcgaggtcatgtccagctcaatggaaatctgcgtgataaaggtggagatcaag
gacctgaacgacaatgcgcccagtttcccggcagcacagatcgagctggagatctcggag
gcagccagccctggcacgcgcatcccgctggacagcgcttacgatccagactcaggaagc
tttggcgtgcagacttacgagctcacgcccaacgagctgttcggcctggagatcaagacg
cgcggcgacggctcccgctttgccgaactcgtggtggaaaagagcctggaccgcgagacg
cagtcgcactacagcttccgaatcactgcgctagacggtggcgacccgccgcgcctgggc
accgttggccttagtatcaaggtgaccgactccaatgacaacaacccggtgtttagcgag
tccacctacgcggtgagcgtgccagaaaactcgcctcccaacacacccgtcatccgcctc
aacgccagcgatccagacgagggcaccaacggccaggtggtctactccttctatggctac
gtcaacgaccgcacgcgcgagctctttcagatcgacccgcacagtggcctggtcactgtc
actggcgctttagactacgaagaggggcacgtgtacgaactggacgtgcaggctaaggac
ttggggcccaattccatcccggcacactgcaaggtcaccgtcagcgtgctggacaccaat
gacaatccgccggtcatcaacctgctgtcagtcaacagtgagcttgtggaggtcagcgag
agcgcccccccgggctacgtgatcgccttggtgcgggtgtctgatcgcgactcaggcctc
aatggacgtgtgcagtgccgtttgctgggcaatgtgccctttcgactgcaggaatatgag
agcttctccactattctggtggacggacggctggaccgcgagcagcacgaccaatacaac
ctcacaattcaggcacgcgacggcggcgtgcccatgctgcagagtgccaagtcctttacc
gtgctcatcactgacgaaaatgacaaccacccgcacttttccaagccctactaccaggtc
attgtgcaggagaacaacacgcctggcgcctatctgctctctgtgtctgctcgcgacccc
gacctgggtctcaacggcagtgtctcctaccagatcgtgccgtcgcaggtgcgggacatg
cctgtcttcacctatgtctccatcaatcccaactcaggcgacatctacgcgctgcgatcc
tttaaccacgagcagaccaaggcgttcgaattcaaggtgctggccaaggacggcggcctt
ccctcactgcaaagcaacgctacggtgcgggtcatcatcctcgacgtcaacgacaacacc
ccggtcatcacagccccacctctgattaacggcactgccgaggtctacataccccgcaac
tctggcataggctacctggtgactgttgtcaaggcagaagactacgatgagggcgaaaat
ggccgagtcacctacgacatgaccgagggcgaccgcggcttctttgaaatagaccaggtc
aatggcgaagtcagaaccacccgcaccttcggggagagctccaagtcctcctatgagctt
atcgtggtggctcacgaccacggcaagacatctctctctgcctctgctctcgtcctaatc
tacttgtcccctgctctcgatgcccaagagtcaatgggctctgtgaacttgtccttgatt
ttcattattgccctgggctccattgcgggcatcctctttgtaactatgatcttcgtggca
atcaagtgcaagcgagacaacaaagagatccggacctacaactgcagtaattgtttaacc
atcacttgtctcctcggctgttttataaaaggacaaaacagcaagtgtctgcattgcatc
tcggtttctcccattagcgaggagcaagacaaaaagacagaggagaaagtgagcctaagg
ggaaagagaattgctgagtactcctatgggcatcaaaagaaatcaagcaagaagaaaaaa
atcagtaagaatgacatccgcctggtaccccgggatgtggaggagacagacaagatgaac
gttgtcagttgctcttccctgacctcctccctcaactattttgactaccaccagcagacg
ctgcccctgggctgccgccgctctgagagcactttcctgaatgtggagaaccagaatacc
cgcaacaccagtgctaaccacatctaccatcactctttcaacagccaggggccccagcag
cctgacctgattatcaacggtgtgcctctgcctgagactgaaaactattcttttgactcc
aactacgtgaatagccgagcccatttaatcaagagcagctccaccttcaaggacttagag
ggcaacagcctgaaggatagtggacatgaggagagtgaccaaactgacagtgagcatgat
gtccagcggagcctgtattgtgatactgctgtcaacgatgtgctgaacaccagtgtgacc
tccatgggatctcagatgcctgatcatgatcagaatgaaggatttcattgccgggaagaa
tgccggattcttggccactctgacaggtgctggatgccccggaaccccatgcccatccgt
tccaagtcccctgagcatgtgaggaacatcatcgcgctgtctattgaagctactgctgct
gatgtcgaggcttatgacgactgcggccccaccaaacggactttcgcaacctttgggaaa
gatgtcagcgaccacccggctgaggagaggcctaccctgaaaggcaagaggactgtcgat
gtgaccatctgcagccccaaggtcaacagcgttatccgggaggcaggcaatggctgtgag
gcgattagccctgtcacctcccccctccacctcaagagctctctgcccaccaagccttcc
gtgtcttacaccattgccctggctcccccagcccgtgatctggagcagtatgtcaacaat
gtcaacaatggccctactcgtccctctgaagctgagccccgtggagctgatagcgagaaa
gtcatgcatgaggtcagccccattctgaaggaaggtcgcaacaaagagtcccctggtgtg
aagcgtctgaaggatatcgttctctaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (14)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (23)   
   RefSeq(nuc) (3)   
   GenBank (10)   
   EMBL (10)   
3D Structure (1)   
   PDB (1)   
Protein domain (4)   
   Pfam (4)   
All databases (60)   

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