PCD19_HUMAN » Protocadherin-19

PCD19_HUMAN » Protocadherin-19
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
PCD19_HUMAN » Protocadherin-19 »
Hydrophobic Thickness 38.0 ± 1.2 Å
Tilt Angle 0 ± 1°
ΔGtransfer -58.1 kcal/mol
ΔGfold -25.4 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 675-702 (674-706)
Pathways none
PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 24-109, PDBID: 4ZI9, Subunit A, Seq Identity:36%, Cadherin-like

AA: 134-229, PDBID: 4ZPN, Subunit B, Seq Identity:53%, Cadherin domain

AA: 243-337, PDBID: 4ZPM, Subunit A, Seq Identity:52%, Cadherin domain

AA: 354-444, PDBID: 4ZPL, Subunit A, Seq Identity:36%, Cadherin domain

AA: 458-554, PDBID: 4ZI9, Subunit B, Seq Identity:31%, Cadherin domain

AA: 573-663, PDBID: 3PPE, Subunit A, Seq Identity:34%, Cadherin domain

UniProt annotation for PCD19_HUMAN » Protocadherin-19
FUNCTION: Potential calcium-dependent cell-adhesion protein.

TISSUE SPECIFICITY: 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.

DEVELOPMENTAL STAGE: Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence.

DISEASE: Epileptic encephalopathy, early infantile, 9 (EIEE9) OMIM: A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for PCD19_HUMAN » Protocadherin-19
SIGNAL 1 21 Potential.
CHAIN 22 1148 Protocadherin-19.
DOMAIN 22 129 Cadherin 1.
DOMAIN 130 238 Cadherin 2.
DOMAIN 239 346 Cadherin 3.
DOMAIN 350 453 Cadherin 4.
DOMAIN 454 563 Cadherin 5.
DOMAIN 569 672 Cadherin 6.
Amino Acid Sequence for PCD19_HUMAN » Protocadherin-19
MESLLLPVLL LLAILWTQAA ALINLKYSVE EEQRAGTVIA NVAKDAREAG FALDPRQASA FRVVSNSAPH LVDINPSSGL LVTKQKIDRD LLCRQSPKCI ISLEVMSSSM EICVIKVEIK DLNDNAPSFP AAQIELEISE AASPGTRIPL DSAYDPDSGS FGVQTYELTP NELFGLEIKT RGDGSRFAEL VVEKSLDRET QSHYSFRITA LDGGDPPRLG TVGLSIKVTD SNDNNPVFSE STYAVSVPEN SPPNTPVIRL NASDPDEGTN GQVVYSFYGY VNDRTRELFQ IDPHSGLVTV TGALDYEEGH VYELDVQAKD LGPNSIPAHC KVTVSVLDTN DNPPVINLLS VNSELVEVSE SAPPGYVIAL VRVSDRDSGL NGRVQCRLLG NVPFRLQEYE SFSTILVDGR LDREQHDQYN LTIQARDGGV PMLQSAKSFT VLITDENDNH PHFSKPYYQV IVQENNTPGA YLLSVSARDP DLGLNGSVSY QIVPSQVRDM PVFTYVSINP NSGDIYALRS FNHEQTKAFE FKVLAKDGGL PSLQSNATVR VIILDVNDNT PVITAPPLIN GTAEVYIPRN SGIGYLVTVV KAEDYDEGEN GRVTYDMTEG DRGFFEIDQV NGEVRTTRTF GESSKSSYEL IVVAHDHGKT SLSASALVLI YLSPALDAQE SMGSVNLSLI FIIALGSIAG ILFVTMIFVA IKCKRDNKEI RTYNCSNCLT ITCLLGCFIK GQNSKCLHCI SVSPISEEQD KKTEEKVSLR GKRIAEYSYG HQKKSSKKKK ISKNDIRLVP RDVEETDKMN VVSCSSLTSS LNYFDYHQQT LPLGCRRSES TFLNVENQNT RNTSANHIYH HSFNSQGPQQ PDLIINGVPL PETENYSFDS NYVNSRAHLI KSSSTFKDLE GNSLKDSGHE ESDQTDSEHD VQRSLYCDTA VNDVLNTSVT SMGSQMPDHD QNEGFHCREE CRILGHSDRC WMPRNPMPIR SKSPEHVRNI IALSIEATAA DVEAYDDCGP TKRTFATFGK DVSDHPAEER PTLKGKRTVD VTICSPKVNS VIREAGNGCE AISPVTSPLH LKSSLPTKPS VSYTIALAPP ARDLEQYVNN VNNGPTRPSE AEPRGADSEK VMHEVSPILK EGRNKESPGV KRLKDIVL