PCD15_HUMAN » Protocadherin-15

PCD15_HUMAN » Protocadherin-15
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
PCD15_HUMAN » Protocadherin-15 »
Hydrophobic Thickness 40.4 ± 3.8 Å
Tilt Angle 1 ± 0°
ΔGtransfer -30.6 kcal/mol
ΔGfold -22.8 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 1373-1400 (1372-1407)
Pathways none
PDB none
OPM none
Complexes

CAD23:PCD15_MOUSE

Interactions

CAD23, Complex: CAD23:PCD15, PDBID: 4APX

Domains

AA: 152-256, PDBID: 4APX, Subunit B, Seq Identity:97%, Cadherin domain

AA: 514-606, PDBID: 2EE0, Subunit A, Seq Identity:30%, Cadherin domain

AA: 621-708, PDBID: 2EE0, Subunit A, Seq Identity:31%, Cadherin domain

AA: 723-810, PDBID: 2WCP, Subunit A, Seq Identity:32%, Cadherin domain

AA: 824-917, PDBID: 2EE0, Subunit A, Seq Identity:32%, Cadherin domain

AA: 931-1027, PDBID: 3UBH, Subunit A, Seq Identity:28%, Cadherin domain

AA: 1044-1135, PDBID: 1EDH, Subunit B, Seq Identity:33%, Cadherin domain

AA: 1149-1243, PDBID: 3UBH, Subunit A, Seq Identity:33%, Cadherin domain

UniProt annotation for PCD15_HUMAN » Protocadherin-15
FUNCTION: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

SUBUNIT: Interacts with MYO7A. antiparallel heterodimer with CDH23 (By similarity). Interacts with USH1G; this interaction may recruit USH1G to the plasma membrane (By similarity). Interacts with LHFPL5/TMHS; this interaction is required for efficient localization to hair bundles (By similarity).

TISSUE SPECIFICITY: Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer sulcus cells and spiral ganglion of fetal cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines as well as biopsies of nasal NK/T-cell lymphomas. Not detected in normal or in vitro activated peripheral blood cells, CD4 or CD8 lymphocytes or NK cells. Isoform 3 is expressed in brain, heart, cerebellum and kidney. CD1 isoforms, such as isoform 1, have a limited pattern of expression and is detected in testis, retina and cochlea. CD2 isoforms, such as isoforms 4 and 5, are expressed in heart, kidney, thymus, spleen, testis, retina and cochlea. CD3 isoforms, such as isoform 6, are widely expressed.

DOMAIN: Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.

DOMAIN: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.

DISEASE: Usher syndrome 1F (USH1F) OMIM: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. mutations affecting the gene represented in this entry.

DISEASE: Usher syndrome 1D/F (USH1DF) OMIM: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

DISEASE: Deafness, autosomal recessive, 23 (DFNB23) OMIM: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. mutations affecting the gene represented in this entry.

UniProt features for PCD15_HUMAN » Protocadherin-15
SIGNAL 1 26 Potential.
CHAIN 27 1955 Protocadherin-15.
DOMAIN 40 147 Cadherin 1.
DOMAIN 148 265 Cadherin 2.
DOMAIN 278 395 Cadherin 3.
DOMAIN 396 509 Cadherin 4.
DOMAIN 510 616 Cadherin 5.
DOMAIN 617 717 Cadherin 6.
DOMAIN 719 819 Cadherin 7.
DOMAIN 820 926 Cadherin 8.
DOMAIN 927 1035 Cadherin 9.
DOMAIN 1037 1144 Cadherin 10.
DOMAIN 1145 1259 Cadherin 11.
Amino Acid Sequence for PCD15_HUMAN » Protocadherin-15
MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP PPPGAHLYEE LGDSSILFLL YHFQQSRGNN SVSEDRKHQQ VVMPFSSNTI EAHKSAHVDG SLKSNKLKSA RKFTFLSDED DLSAHNPLYK ENISQVSTNS DISQRTDFVD PFSPKIQAKS KSLRGPREKI QRLWSQSVSL PRRLMRKVPN RPEIIDLQQW QGTRQKAENE NTGICTNKRG SSNPLLTTEE ANLTEKEEIR QGETLMIEGT EQLKSLSSDS SFCFPRPHFS FSTLPTVSRT VELKSEPNVI SSPAECSLEL SPSRPCVLHS SLSRRETPIC MLPIETERNI FENFAHPPNI SPSACPLPPP PPISPPSPPP APAPLAPPPD ISPFSLFCPP PSPPSIPLPL PPPTFFPLSV STSGPPTPPL LPPFPTPLPP PPPSIPCPPP PSASFLSTEC VCITGVKCTT NLMPAEKIKS SMTQLSTTTV CKTDPQREPK GILRHVKNLA ELEKSVANMY SQIEKNYLRT NVSELQTMCP SEVTNMEITS EQNKGSLNNI VEGTEKQSHS QSTSL