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Protein

Protocadherin-15

Gene

PCDH15

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

GO - Molecular functioni

GO - Biological processi

  • equilibrioception Source: HGNC
  • homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  • inner ear development Source: InterPro
  • photoreceptor cell maintenance Source: HGNC
  • sensory perception of light stimulus Source: HGNC
  • sensory perception of sound Source: HGNC
Complete GO annotation...

Keywords - Biological processi

Cell adhesion, Hearing

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150275-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protocadherin-15
Gene namesi
Name:PCDH15
Synonyms:USH1F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:14674. PCDH15.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 1376ExtracellularSequence analysisAdd BLAST1350
Transmembranei1377 – 1397HelicalSequence analysisAdd BLAST21
Topological domaini1398 – 1955CytoplasmicSequence analysisAdd BLAST558

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • extracellular space Source: HGNC
  • integral component of membrane Source: UniProtKB-KW
  • photoreceptor outer segment Source: HGNC
  • plasma membrane Source: UniProtKB-SubCell
  • stereocilium Source: HGNC
  • synapse Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

Pathology & Biotechi

Involvement in diseasei

Usher syndrome 1F (USH1F)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUSH 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.
See also OMIM:602083
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071696134R → Q in USH1F. 1 Publication1
Natural variantiVAR_0240371342Q → K in USH1F. 1 PublicationCorresponds to variant rs61731387dbSNPEnsembl.1
Natural variantiVAR_0240381867Missing in USH1F. 1 Publication1
Isoform 4 (identifier: Q96QU1-4)
Natural varianti1611E → A in USH1F. 1 Publication1
Usher syndrome 1D/F (USH1DF)2 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
Disease descriptionUSH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.
See also OMIM:601067
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069297178D → G in USH1DF. 1 Publication1
Deafness, autosomal recessive, 23 (DFNB23)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609533
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024035134R → G in DFNB23. 2 PublicationsCorresponds to variant rs137853003dbSNPEnsembl.1
Natural variantiVAR_024036262G → D in DFNB23. 1 PublicationCorresponds to variant rs137853002dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNETi65217.
MalaCardsiPCDH15.
MIMi276900. phenotype.
601067. phenotype.
602083. phenotype.
609533. phenotype.
OpenTargetsiENSG00000150275.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA32999.

Chemistry databases

ChEMBLiCHEMBL6112.

Polymorphism and mutation databases

BioMutaiPCDH15.
DMDMi116242702.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000399827 – 1955Protocadherin-15Add BLAST1929

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32 ↔ 120By similarity
Glycosylationi52N-linked (GlcNAc...)Sequence analysis1
Glycosylationi97N-linked (GlcNAc...)Sequence analysis1
Glycosylationi201N-linked (GlcNAc...)Sequence analysis1
Glycosylationi419N-linked (GlcNAc...)Sequence analysis1
Glycosylationi559N-linked (GlcNAc...)Sequence analysis1
Glycosylationi662N-linked (GlcNAc...)Sequence analysis1
Glycosylationi724N-linked (GlcNAc...)Sequence analysis1
Glycosylationi768N-linked (GlcNAc...)Sequence analysis1
Glycosylationi821N-linked (GlcNAc...)Sequence analysis1
Glycosylationi851N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1064N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1084N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1175N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ96QU1.
MaxQBiQ96QU1.
PaxDbiQ96QU1.
PeptideAtlasiQ96QU1.
PRIDEiQ96QU1.

PTM databases

iPTMnetiQ96QU1.
PhosphoSitePlusiQ96QU1.

Expressioni

Tissue specificityi

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.3 Publications

Gene expression databases

BgeeiENSG00000150275.
CleanExiHS_PCDH15.
ExpressionAtlasiQ96QU1. baseline and differential.
GenevisibleiQ96QU1. HS.

Interactioni

Subunit structurei

Antiparallel heterodimer with CDH23. Found in a complex with TMIE and LHFPL5. Interacts with LHFPL5/TMHS; this interaction is required for efficient localization to hair bundles. Interacts with MYO7A. Interacts with USH1G; this interaction may recruit USH1G to the plasma membrane.By similarity

Protein-protein interaction databases

BioGridi122407. 3 interactors.
IntActiQ96QU1. 1 interactor.
MINTiMINT-2815151.
STRINGi9606.ENSP00000354950.

Structurei

Secondary structure

11955
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi818 – 829Combined sources12
Beta strandi837 – 840Combined sources4
Turni846 – 848Combined sources3
Beta strandi853 – 856Combined sources4
Helixi859 – 861Combined sources3
Turni862 – 864Combined sources3
Beta strandi865 – 867Combined sources3
Turni869 – 871Combined sources3
Beta strandi873 – 878Combined sources6
Helixi882 – 884Combined sources3
Beta strandi891 – 899Combined sources9
Beta strandi908 – 917Combined sources10
Beta strandi924 – 927Combined sources4
Beta strandi929 – 935Combined sources7
Beta strandi944 – 947Combined sources4
Beta strandi950 – 952Combined sources3
Helixi959 – 961Combined sources3
Beta strandi964 – 968Combined sources5
Helixi973 – 978Combined sources6
Beta strandi979 – 981Combined sources3
Turni983 – 985Combined sources3
Beta strandi987 – 992Combined sources6
Beta strandi1001 – 1009Combined sources9
Beta strandi1012 – 1014Combined sources3
Beta strandi1017 – 1026Combined sources10
Helixi1029 – 1031Combined sources3
Beta strandi1034 – 1036Combined sources3
Beta strandi1038 – 1040Combined sources3
Beta strandi1054 – 1057Combined sources4
Beta strandi1067 – 1074Combined sources8
Beta strandi1080 – 1082Combined sources3
Turni1084 – 1086Combined sources3
Beta strandi1088 – 1091Combined sources4
Turni1097 – 1099Combined sources3
Beta strandi1102 – 1111Combined sources10
Helixi1112 – 1115Combined sources4
Turni1116 – 1118Combined sources3
Beta strandi1127 – 1135Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XHZX-ray2.80A816-1144[»]
ProteinModelPortaliQ96QU1.
SMRiQ96QU1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini40 – 147Cadherin 1PROSITE-ProRule annotationAdd BLAST108
Domaini148 – 265Cadherin 2PROSITE-ProRule annotationAdd BLAST118
Domaini278 – 395Cadherin 3PROSITE-ProRule annotationAdd BLAST118
Domaini396 – 509Cadherin 4PROSITE-ProRule annotationAdd BLAST114
Domaini510 – 616Cadherin 5PROSITE-ProRule annotationAdd BLAST107
Domaini617 – 717Cadherin 6PROSITE-ProRule annotationAdd BLAST101
Domaini719 – 819Cadherin 7PROSITE-ProRule annotationAdd BLAST101
Domaini820 – 926Cadherin 8PROSITE-ProRule annotationAdd BLAST107
Domaini927 – 1035Cadherin 9PROSITE-ProRule annotationAdd BLAST109
Domaini1037 – 1144Cadherin 10PROSITE-ProRule annotationAdd BLAST108
Domaini1145 – 1259Cadherin 11PROSITE-ProRule annotationAdd BLAST115

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1435 – 1443Poly-Pro9
Compositional biasi1746 – 1752Poly-Pro7
Compositional biasi1815 – 1823Poly-Pro9
Compositional biasi1826 – 1831Poly-Pro6

Domaini

Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.By similarity
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.By similarity

Sequence similaritiesi

Contains 11 cadherin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00850000132356.
HOGENOMiHOG000230919.
HOVERGENiHBG053521.
InParanoidiQ96QU1.
KOiK16500.
PhylomeDBiQ96QU1.

Family and domain databases

Gene3Di2.60.40.60. 10 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR030718. Protocadherin-15.
[Graphical view]
PANTHERiPTHR24028:SF11. PTHR24028:SF11. 4 hits.
PfamiPF00028. Cadherin. 8 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 11 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 10 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 10 hits.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96QU1-1) [UniParc]FASTAAdd to basket
Also known as: A, CD1-1

This isoform has been chosen as the 'canonical' 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
MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES
60 70 80 90 100
RNGTILVDNM LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG
110 120 130 140 150
RVLDRDPPMN IHSIVVQVQC INKKVGTIIY HEVRIVVRDR NDNSPTFKHE
160 170 180 190 200
SYYATVNELT PVGTTIFTGF SGDNGATDID DGPNGQIEYV IQYNPDDPTS
210 220 230 240 250
NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN LNERRTTTTT
260 270 280 290 300
LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV
310 320 330 340 350
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL
360 370 380 390 400
EPVNRDFHQK FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY
410 420 430 440 450
QGYILESAPV GATISDSLNL TSPLRIVALD KDIEDTKDPE LHLFLNDYTS
460 470 480 490 500
VFTVTQTGIT RYLTLLQPVD REEQQTYTFS ITAFDGVQES EPVIVNIQVM
510 520 530 540 550
DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS NGEITYEILV
560 570 580 590 600
GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT
610 620 630 640 650
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY
660 670 680 690 700
AIENGDPQRV FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST
710 720 730 740 750
ATVNIVVTDV NDNAPVFDPY LPRNLSVVEE EANAFVGQVK ATDPDAGING
760 770 780 790 800
QVHYSLGNFN NLFRITSNGS IYTAVKLNRE VRDYYELVVV ATDGAVHPRH
810 820 830 840 850
STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ IEAKDVDLGA
860 870 880 890 900
NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD
910 920 930 940 950
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA
960 970 980 990 1000
EDADPPGLPA SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT
1010 1020 1030 1040 1050
IFKLVVVAFD DGEPVMSSSA TVKILVLHPG EIPRFTQEEY RPPPVSELAT
1060 1070 1080 1090 1100
KGTMVGVISA AAINQSIVYS IVSGNEEDTF GINNITGVIY VNGPLDYETR
1110 1120 1130 1140 1150
TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH PPVFQKKFYI
1160 1170 1180 1190 1200
GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY
1210 1220 1230 1240 1250
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV
1260 1270 1280 1290 1300
IVSNVPPTLV EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL
1310 1320 1330 1340 1350
EDYTKCDLTV YAIDPQTNRA IDRNELFKFL DGKLLDINKD FQPYYGEGGR
1360 1370 1380 1390 1400
ILEIRTPEAV TSIKKRGESL GYTEGALLAL AFIIILCCIP AILVVLVSYR
1410 1420 1430 1440 1450
QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP PPPGAHLYEE
1460 1470 1480 1490 1500
LGDSSILFLL YHFQQSRGNN SVSEDRKHQQ VVMPFSSNTI EAHKSAHVDG
1510 1520 1530 1540 1550
SLKSNKLKSA RKFTFLSDED DLSAHNPLYK ENISQVSTNS DISQRTDFVD
1560 1570 1580 1590 1600
PFSPKIQAKS KSLRGPREKI QRLWSQSVSL PRRLMRKVPN RPEIIDLQQW
1610 1620 1630 1640 1650
QGTRQKAENE NTGICTNKRG SSNPLLTTEE ANLTEKEEIR QGETLMIEGT
1660 1670 1680 1690 1700
EQLKSLSSDS SFCFPRPHFS FSTLPTVSRT VELKSEPNVI SSPAECSLEL
1710 1720 1730 1740 1750
SPSRPCVLHS SLSRRETPIC MLPIETERNI FENFAHPPNI SPSACPLPPP
1760 1770 1780 1790 1800
PPISPPSPPP APAPLAPPPD ISPFSLFCPP PSPPSIPLPL PPPTFFPLSV
1810 1820 1830 1840 1850
STSGPPTPPL LPPFPTPLPP PPPSIPCPPP PSASFLSTEC VCITGVKCTT
1860 1870 1880 1890 1900
NLMPAEKIKS SMTQLSTTTV CKTDPQREPK GILRHVKNLA ELEKSVANMY
1910 1920 1930 1940 1950
SQIEKNYLRT NVSELQTMCP SEVTNMEITS EQNKGSLNNI VEGTEKQSHS

QSTSL
Length:1,955
Mass (Da):216,069
Last modified:October 17, 2006 - v2
Checksum:i23BA3A237CB188E7
GO
Isoform 2 (identifier: Q96QU1-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-1118: Missing.
     1119-1125: LRVPSKS → MTFSHSG

Show »
Length:837
Mass (Da):92,358
Checksum:iD7823874BDD9A3A8
GO
Isoform 3 (identifier: Q96QU1-3) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     957-961: GLPAS → VSRRH
     962-1955: Missing.

Show »
Length:961
Mass (Da):106,613
Checksum:iE4B429F6BDB9A547
GO
Isoform 4 (identifier: Q96QU1-4) [UniParc]FASTAAdd to basket
Also known as: CD2-1

The sequence of this isoform differs from the canonical sequence as follows:
     435-435: D → DVPPSGVP
     1456-1776: ILFLLYHFQQ...PPPDISPFSL → MYEMPQYGSR...ANSEGYNTAL
     1777-1955: Missing.

Show »
Length:1,783
Mass (Da):197,906
Checksum:i8048D1CB309C6654
GO
Isoform 5 (identifier: Q96QU1-6) [UniParc]FASTAAdd to basket
Also known as: CD3-1

The sequence of this isoform differs from the canonical sequence as follows:
     1456-1675: ILFLLYHFQQ...RPHFSFSTLP → MYEMPQYGSR...NNLHIPMTKL
     1676-1955: Missing.

Show »
Length:1,675
Mass (Da):185,964
Checksum:iCA24BBAF836E93E1
GO

Sequence cautioni

The sequence ACF76477 differs from that shown. Unlikely isoform. Probable cloning artifact.Curated
Isoform 3 : The sequence CAD38850 differs from that shown. Reason: Erroneous termination at position 957. Translated as Val.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti261L → S in AAK31581 (PubMed:11487575).Curated1
Sequence conflicti467Q → L in AAK31581 (PubMed:11487575).Curated1
Sequence conflicti1276Q → R in AAK31581 (PubMed:11487575).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02828919S → A.2 PublicationsCorresponds to variant rs11004439dbSNPEnsembl.1
Natural variantiVAR_024035134R → G in DFNB23. 2 PublicationsCorresponds to variant rs137853003dbSNPEnsembl.1
Natural variantiVAR_071696134R → Q in USH1F. 1 Publication1
Natural variantiVAR_071697174N → S.1 PublicationCorresponds to variant rs145037203dbSNPEnsembl.1
Natural variantiVAR_069297178D → G in USH1DF. 1 Publication1
Natural variantiVAR_024036262G → D in DFNB23. 1 PublicationCorresponds to variant rs137853002dbSNPEnsembl.1
Natural variantiVAR_028290380G → S.1 PublicationCorresponds to variant rs10825269dbSNPEnsembl.1
Natural variantiVAR_028291435D → A.2 PublicationsCorresponds to variant rs4935502dbSNPEnsembl.1
Natural variantiVAR_028292929R → Q.3 PublicationsCorresponds to variant rs2135720dbSNPEnsembl.1
Natural variantiVAR_0716981273R → S.1 PublicationCorresponds to variant rs111033363dbSNPEnsembl.1
Natural variantiVAR_0240371342Q → K in USH1F. 1 PublicationCorresponds to variant rs61731387dbSNPEnsembl.1
Natural variantiVAR_0240381867Missing in USH1F. 1 Publication1
Isoform 4 (identifier: Q96QU1-4)
Natural varianti1611E → A in USH1F. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0282571 – 1118Missing in isoform 2. 1 PublicationAdd BLAST1118
Alternative sequenceiVSP_046616435D → DVPPSGVP in isoform 4. 1 Publication1
Alternative sequenceiVSP_028259957 – 961GLPAS → VSRRH in isoform 3. 1 Publication5
Alternative sequenceiVSP_028260962 – 1955Missing in isoform 3. 1 PublicationAdd BLAST994
Alternative sequenceiVSP_0282581119 – 1125LRVPSKS → MTFSHSG in isoform 2. 1 Publication7
Alternative sequenceiVSP_0466171456 – 1776ILFLL…SPFSL → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEEEP KKIKKPKVEIREPSEEEEVV VTIEKPPAAEPTYTTWKRAR IFPMIFKKVRGLADKRGIVD LEGEEWQRRLEEEDKDYLKL TLDQEEATESTVESEEESSS DYTEYSEEESEFSESETTEE ESESETPSEEEESSTPESEE SESTESEGEKARKNIVLARR RPMVEEVKEVKGRKEEPQEE QKEPKMEEEEHSEEEESGPA PVEESTDPEAQDIPEEGSAE SASVEGGVESEEESESGSSS SSSESQSGGPWGYQVPAYDR SKNANQKKSPGANSEGYNTA L in isoform 4. 1 PublicationAdd BLAST321
Alternative sequenceiVSP_0466181456 – 1675ILFLL…FSTLP → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEWAR KRMIKLVVDREYETSSTGED SAPECQRNRLHHPSIHSNIN GNIYIAQNGSVVRTRRACLT DNLKVASPVRLGGPFKKLDK LAVTHEENVPLNTLSKGPFS TEKMNARPTLVTFAPCPVGT DNTAVKPLRNRLKSTVEQES MIDSKNIKEALEFHSDHTQS DDEELWMGPWNNLHIPMTKL in isoform 5. 1 PublicationAdd BLAST220
Alternative sequenceiVSP_0466211676 – 1955Missing in isoform 5. 1 PublicationAdd BLAST280
Alternative sequenceiVSP_0466221777 – 1955Missing in isoform 4. 1 PublicationAdd BLAST179

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029205 mRNA. Translation: AAK31581.1.
AY029237 mRNA. Translation: AAK31804.1.
AY388963 mRNA. Translation: AAR26468.1.
EU718480 mRNA. Translation: ACF76476.1.
EU718481 mRNA. Translation: ACF76477.1. Sequence problems.
EU718482 mRNA. Translation: ACF76478.1.
AL834134 mRNA. Translation: CAD38850.2. Different termination.
AL353784
, AC013737, AC024073, AC027671, AL356114, AL360214 Genomic DNA. Translation: CAH72389.1.
AL353784
, AC013737, AC016817, AC024073, AC027671, AL356114, AL360214, AL365496 Genomic DNA. Translation: CAH72390.1.
AL356114
, AC013737, AC024073, AC027671, AL353784, AL360214 Genomic DNA. Translation: CAH71768.1.
AL356114
, AC013737, AC016817, AC024073, AC027671, AL353784, AL360214, AL365496 Genomic DNA. Translation: CAH71769.1.
AL360214
, AC013737, AC024073, AC027671, AL353784, AL356114 Genomic DNA. Translation: CAI15200.1.
AL360214
, AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL365496 Genomic DNA. Translation: CAI15201.1.
AL365496
, AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL360214 Genomic DNA. Translation: CAH73916.1.
CCDSiCCDS7248.1. [Q96QU1-1]
RefSeqiNP_149045.3. NM_033056.3. [Q96QU1-1]
XP_016872061.1. XM_017016572.1. [Q96QU1-6]
UniGeneiHs.280209.

Genome annotation databases

EnsembliENST00000320301; ENSP00000322604; ENSG00000150275. [Q96QU1-1]
ENST00000373955; ENSP00000363066; ENSG00000150275. [Q96QU1-3]
ENST00000395445; ENSP00000378832; ENSG00000150275. [Q96QU1-4]
ENST00000616114; ENSP00000483745; ENSG00000150275. [Q96QU1-6]
GeneIDi65217.
KEGGihsa:65217.
UCSCiuc001jju.2. human. [Q96QU1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029205 mRNA. Translation: AAK31581.1.
AY029237 mRNA. Translation: AAK31804.1.
AY388963 mRNA. Translation: AAR26468.1.
EU718480 mRNA. Translation: ACF76476.1.
EU718481 mRNA. Translation: ACF76477.1. Sequence problems.
EU718482 mRNA. Translation: ACF76478.1.
AL834134 mRNA. Translation: CAD38850.2. Different termination.
AL353784
, AC013737, AC024073, AC027671, AL356114, AL360214 Genomic DNA. Translation: CAH72389.1.
AL353784
, AC013737, AC016817, AC024073, AC027671, AL356114, AL360214, AL365496 Genomic DNA. Translation: CAH72390.1.
AL356114
, AC013737, AC024073, AC027671, AL353784, AL360214 Genomic DNA. Translation: CAH71768.1.
AL356114
, AC013737, AC016817, AC024073, AC027671, AL353784, AL360214, AL365496 Genomic DNA. Translation: CAH71769.1.
AL360214
, AC013737, AC024073, AC027671, AL353784, AL356114 Genomic DNA. Translation: CAI15200.1.
AL360214
, AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL365496 Genomic DNA. Translation: CAI15201.1.
AL365496
, AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL360214 Genomic DNA. Translation: CAH73916.1.
CCDSiCCDS7248.1. [Q96QU1-1]
RefSeqiNP_149045.3. NM_033056.3. [Q96QU1-1]
XP_016872061.1. XM_017016572.1. [Q96QU1-6]
UniGeneiHs.280209.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XHZX-ray2.80A816-1144[»]
ProteinModelPortaliQ96QU1.
SMRiQ96QU1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122407. 3 interactors.
IntActiQ96QU1. 1 interactor.
MINTiMINT-2815151.
STRINGi9606.ENSP00000354950.

Chemistry databases

ChEMBLiCHEMBL6112.

PTM databases

iPTMnetiQ96QU1.
PhosphoSitePlusiQ96QU1.

Polymorphism and mutation databases

BioMutaiPCDH15.
DMDMi116242702.

Proteomic databases

EPDiQ96QU1.
MaxQBiQ96QU1.
PaxDbiQ96QU1.
PeptideAtlasiQ96QU1.
PRIDEiQ96QU1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320301; ENSP00000322604; ENSG00000150275. [Q96QU1-1]
ENST00000373955; ENSP00000363066; ENSG00000150275. [Q96QU1-3]
ENST00000395445; ENSP00000378832; ENSG00000150275. [Q96QU1-4]
ENST00000616114; ENSP00000483745; ENSG00000150275. [Q96QU1-6]
GeneIDi65217.
KEGGihsa:65217.
UCSCiuc001jju.2. human. [Q96QU1-1]

Organism-specific databases

CTDi65217.
DisGeNETi65217.
GeneCardsiPCDH15.
GeneReviewsiPCDH15.
HGNCiHGNC:14674. PCDH15.
MalaCardsiPCDH15.
MIMi276900. phenotype.
601067. phenotype.
602083. phenotype.
605514. gene.
609533. phenotype.
neXtProtiNX_Q96QU1.
OpenTargetsiENSG00000150275.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBiPA32999.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3594. Eukaryota.
ENOG410XQHI. LUCA.
GeneTreeiENSGT00850000132356.
HOGENOMiHOG000230919.
HOVERGENiHBG053521.
InParanoidiQ96QU1.
KOiK16500.
PhylomeDBiQ96QU1.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000150275-MONOMER.

Miscellaneous databases

ChiTaRSiPCDH15. human.
GeneWikiiPCDH15.
GenomeRNAii65217.
PROiQ96QU1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000150275.
CleanExiHS_PCDH15.
ExpressionAtlasiQ96QU1. baseline and differential.
GenevisibleiQ96QU1. HS.

Family and domain databases

Gene3Di2.60.40.60. 10 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
IPR030718. Protocadherin-15.
[Graphical view]
PANTHERiPTHR24028:SF11. PTHR24028:SF11. 4 hits.
PfamiPF00028. Cadherin. 8 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 11 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 10 hits.
PROSITEiPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 10 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPCD15_HUMAN
AccessioniPrimary (citable) accession number: Q96QU1
Secondary accession number(s): A6NL19
, C6ZEF5, C6ZEF6, C6ZEF7, Q5VY38, Q5VY39, Q6TRH8, Q8NDB9, Q96QT8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: October 17, 2006
Last modified: November 30, 2016
This is version 145 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.