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Q96QU1

- PCD15_HUMAN

UniProt

Q96QU1 - PCD15_HUMAN

Protein

Protocadherin-15

Gene

PCDH15

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro

    GO - Biological processi

    1. equilibrioception Source: HGNC
    2. homophilic cell adhesion Source: InterPro
    3. photoreceptor cell maintenance Source: HGNC
    4. sensory perception of light stimulus Source: HGNC
    5. sensory perception of sound Source: HGNC

    Keywords - Biological processi

    Cell adhesion, Hearing

    Keywords - Ligandi

    Calcium

    Protein family/group databases

    TCDBi1.A.82.1.1. the hair cell mechanotransduction channel (hcmc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protocadherin-15
    Gene namesi
    Name:PCDH15
    Synonyms:USH1F
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:14674. PCDH15.

    Subcellular locationi

    Cell membrane By similarity; Single-pass type I membrane protein By similarity
    Note: Efficient localization to the plasma membrane requires the presence of LHFPL5.By similarity

    GO - Cellular componenti

    1. extracellular space Source: HGNC
    2. extracellular vesicular exosome Source: UniProt
    3. integral component of membrane Source: UniProtKB-KW
    4. photoreceptor outer segment Source: HGNC
    5. plasma membrane Source: UniProtKB-SubCell
    6. stereocilium Source: HGNC
    7. synapse Source: HGNC

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Usher syndrome 1F (USH1F) [MIM:602083]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1342 – 13421Q → K in USH1F. 1 Publication
    Corresponds to variant rs61731387 [ dbSNP | Ensembl ].
    VAR_024037
    Natural varianti1867 – 18671Missing in USH1F. 1 Publication
    VAR_024038
    Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.2 Publications
    Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti178 – 1781D → G in USH1DF. 1 Publication
    VAR_069297
    Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]: 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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti134 – 1341R → G in DFNB23. 2 Publications
    VAR_024035
    Natural varianti262 – 2621G → D in DFNB23. 1 Publication
    VAR_024036

    Keywords - Diseasei

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

    Organism-specific databases

    MIMi276900. phenotype.
    601067. phenotype.
    602083. phenotype.
    609533. phenotype.
    Orphaneti90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBiPA32999.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2626Sequence AnalysisAdd
    BLAST
    Chaini27 – 19551929Protocadherin-15PRO_0000003998Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi32 ↔ 120By similarity
    Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi201 – 2011N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi419 – 4191N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi559 – 5591N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi662 – 6621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi724 – 7241N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi768 – 7681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi821 – 8211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi851 – 8511N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1064 – 10641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1084 – 10841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1175 – 11751N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ96QU1.
    PaxDbiQ96QU1.
    PRIDEiQ96QU1.

    PTM databases

    PhosphoSiteiQ96QU1.

    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

    BgeeiQ96QU1.
    CleanExiHS_PCDH15.
    GenevestigatoriQ96QU1.

    Interactioni

    Subunit structurei

    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.By similarity

    Protein-protein interaction databases

    BioGridi122407. 1 interaction.
    IntActiQ96QU1. 1 interaction.
    MINTiMINT-2815151.
    STRINGi9606.ENSP00000354950.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96QU1.
    SMRiQ96QU1. Positions 27-255.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini27 – 13761350ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1398 – 1955558CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1377 – 139721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 147108Cadherin 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini148 – 265118Cadherin 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini278 – 395118Cadherin 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini396 – 509114Cadherin 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini510 – 616107Cadherin 5PROSITE-ProRule annotationAdd
    BLAST
    Domaini617 – 717101Cadherin 6PROSITE-ProRule annotationAdd
    BLAST
    Domaini719 – 819101Cadherin 7PROSITE-ProRule annotationAdd
    BLAST
    Domaini820 – 926107Cadherin 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini927 – 1035109Cadherin 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini1037 – 1144108Cadherin 10PROSITE-ProRule annotationAdd
    BLAST
    Domaini1145 – 1259115Cadherin 11PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1435 – 14439Poly-Pro
    Compositional biasi1746 – 17527Poly-Pro
    Compositional biasi1815 – 18239Poly-Pro
    Compositional biasi1826 – 18316Poly-Pro

    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

    eggNOGiNOG253862.
    HOVERGENiHBG053521.
    KOiK16500.
    PhylomeDBiQ96QU1.

    Family and domain databases

    Gene3Di2.60.40.60. 10 hits.
    InterProiIPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    [Graphical view]
    PfamiPF00028. Cadherin. 9 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. Align

    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

    MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES     50
    RNGTILVDNM LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG 100
    RVLDRDPPMN IHSIVVQVQC INKKVGTIIY HEVRIVVRDR NDNSPTFKHE 150
    SYYATVNELT PVGTTIFTGF SGDNGATDID DGPNGQIEYV IQYNPDDPTS 200
    NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN LNERRTTTTT 250
    LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV 300
    TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL 350
    EPVNRDFHQK FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY 400
    QGYILESAPV GATISDSLNL TSPLRIVALD KDIEDTKDPE LHLFLNDYTS 450
    VFTVTQTGIT RYLTLLQPVD REEQQTYTFS ITAFDGVQES EPVIVNIQVM 500
    DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS NGEITYEILV 550
    GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT 600
    VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY 650
    AIENGDPQRV FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST 700
    ATVNIVVTDV NDNAPVFDPY LPRNLSVVEE EANAFVGQVK ATDPDAGING 750
    QVHYSLGNFN NLFRITSNGS IYTAVKLNRE VRDYYELVVV ATDGAVHPRH 800
    STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ IEAKDVDLGA 850
    NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD 900
    IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA 950
    EDADPPGLPA SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT 1000
    IFKLVVVAFD DGEPVMSSSA TVKILVLHPG EIPRFTQEEY RPPPVSELAT 1050
    KGTMVGVISA AAINQSIVYS IVSGNEEDTF GINNITGVIY VNGPLDYETR 1100
    TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH PPVFQKKFYI 1150
    GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY 1200
    TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV 1250
    IVSNVPPTLV EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL 1300
    EDYTKCDLTV YAIDPQTNRA IDRNELFKFL DGKLLDINKD FQPYYGEGGR 1350
    ILEIRTPEAV TSIKKRGESL GYTEGALLAL AFIIILCCIP AILVVLVSYR 1400
    QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP PPPGAHLYEE 1450
    LGDSSILFLL YHFQQSRGNN SVSEDRKHQQ VVMPFSSNTI EAHKSAHVDG 1500
    SLKSNKLKSA RKFTFLSDED DLSAHNPLYK ENISQVSTNS DISQRTDFVD 1550
    PFSPKIQAKS KSLRGPREKI QRLWSQSVSL PRRLMRKVPN RPEIIDLQQW 1600
    QGTRQKAENE NTGICTNKRG SSNPLLTTEE ANLTEKEEIR QGETLMIEGT 1650
    EQLKSLSSDS SFCFPRPHFS FSTLPTVSRT VELKSEPNVI SSPAECSLEL 1700
    SPSRPCVLHS SLSRRETPIC MLPIETERNI FENFAHPPNI SPSACPLPPP 1750
    PPISPPSPPP APAPLAPPPD ISPFSLFCPP PSPPSIPLPL PPPTFFPLSV 1800
    STSGPPTPPL LPPFPTPLPP PPPSIPCPPP PSASFLSTEC VCITGVKCTT 1850
    NLMPAEKIKS SMTQLSTTTV CKTDPQREPK GILRHVKNLA ELEKSVANMY 1900
    SQIEKNYLRT NVSELQTMCP SEVTNMEITS EQNKGSLNNI VEGTEKQSHS 1950
    QSTSL 1955
    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 ACF76477.1 differs from that shown. Reason: Unlikely isoform. Probable cloning artifact.
    Isoform 3 : The sequence CAD38850.2 differs from that shown. Reason: Erroneous termination at position 957. Translated as Val.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti261 – 2611L → S in AAK31581. (PubMed:11487575)Curated
    Sequence conflicti467 – 4671Q → L in AAK31581. (PubMed:11487575)Curated
    Sequence conflicti1276 – 12761Q → R in AAK31581. (PubMed:11487575)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti19 – 191S → A.1 Publication
    Corresponds to variant rs11004439 [ dbSNP | Ensembl ].
    VAR_028289
    Natural varianti134 – 1341R → G in DFNB23. 2 Publications
    VAR_024035
    Natural varianti178 – 1781D → G in USH1DF. 1 Publication
    VAR_069297
    Natural varianti262 – 2621G → D in DFNB23. 1 Publication
    VAR_024036
    Natural varianti380 – 3801G → S.
    Corresponds to variant rs10825269 [ dbSNP | Ensembl ].
    VAR_028290
    Natural varianti435 – 4351D → A.1 Publication
    Corresponds to variant rs4935502 [ dbSNP | Ensembl ].
    VAR_028291
    Natural varianti929 – 9291R → Q.2 Publications
    Corresponds to variant rs2135720 [ dbSNP | Ensembl ].
    VAR_028292
    Natural varianti1342 – 13421Q → K in USH1F. 1 Publication
    Corresponds to variant rs61731387 [ dbSNP | Ensembl ].
    VAR_024037
    Natural varianti1867 – 18671Missing in USH1F. 1 Publication
    VAR_024038

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 11181118Missing in isoform 2. 1 PublicationVSP_028257Add
    BLAST
    Alternative sequencei435 – 4351D → DVPPSGVP in isoform 4. 1 PublicationVSP_046616
    Alternative sequencei957 – 9615GLPAS → VSRRH in isoform 3. 1 PublicationVSP_028259
    Alternative sequencei962 – 1955994Missing in isoform 3. 1 PublicationVSP_028260Add
    BLAST
    Alternative sequencei1119 – 11257LRVPSKS → MTFSHSG in isoform 2. 1 PublicationVSP_028258
    Alternative sequencei1456 – 1776321ILFLL…SPFSL → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEEEP KKIKKPKVEIREPSEEEEVV VTIEKPPAAEPTYTTWKRAR IFPMIFKKVRGLADKRGIVD LEGEEWQRRLEEEDKDYLKL TLDQEEATESTVESEEESSS DYTEYSEEESEFSESETTEE ESESETPSEEEESSTPESEE SESTESEGEKARKNIVLARR RPMVEEVKEVKGRKEEPQEE QKEPKMEEEEHSEEEESGPA PVEESTDPEAQDIPEEGSAE SASVEGGVESEEESESGSSS SSSESQSGGPWGYQVPAYDR SKNANQKKSPGANSEGYNTA L in isoform 4. 1 PublicationVSP_046617Add
    BLAST
    Alternative sequencei1456 – 1675220ILFLL…FSTLP → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEWAR KRMIKLVVDREYETSSTGED SAPECQRNRLHHPSIHSNIN GNIYIAQNGSVVRTRRACLT DNLKVASPVRLGGPFKKLDK LAVTHEENVPLNTLSKGPFS TEKMNARPTLVTFAPCPVGT DNTAVKPLRNRLKSTVEQES MIDSKNIKEALEFHSDHTQS DDEELWMGPWNNLHIPMTKL in isoform 5. 1 PublicationVSP_046618Add
    BLAST
    Alternative sequencei1676 – 1955280Missing in isoform 5. 1 PublicationVSP_046621Add
    BLAST
    Alternative sequencei1777 – 1955179Missing in isoform 4. 1 PublicationVSP_046622Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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]
    UniGeneiHs.280209.

    Genome annotation databases

    EnsembliENST00000320301; ENSP00000322604; ENSG00000150275. [Q96QU1-1]
    ENST00000373955; ENSP00000363066; ENSG00000150275. [Q96QU1-3]
    GeneIDi65217.
    KEGGihsa:65217.
    UCSCiuc001jju.1. human. [Q96QU1-1]
    uc001jjw.3. human. [Q96QU1-3]

    Polymorphism databases

    DMDMi116242702.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS7248.1. [Q96QU1-1 ]
    RefSeqi NP_149045.3. NM_033056.3. [Q96QU1-1 ]
    UniGenei Hs.280209.

    3D structure databases

    ProteinModelPortali Q96QU1.
    SMRi Q96QU1. Positions 27-255.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122407. 1 interaction.
    IntActi Q96QU1. 1 interaction.
    MINTi MINT-2815151.
    STRINGi 9606.ENSP00000354950.

    Chemistry

    ChEMBLi CHEMBL6112.

    Protein family/group databases

    TCDBi 1.A.82.1.1. the hair cell mechanotransduction channel (hcmc) family.

    PTM databases

    PhosphoSitei Q96QU1.

    Polymorphism databases

    DMDMi 116242702.

    Proteomic databases

    MaxQBi Q96QU1.
    PaxDbi Q96QU1.
    PRIDEi Q96QU1.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320301 ; ENSP00000322604 ; ENSG00000150275 . [Q96QU1-1 ]
    ENST00000373955 ; ENSP00000363066 ; ENSG00000150275 . [Q96QU1-3 ]
    GeneIDi 65217.
    KEGGi hsa:65217.
    UCSCi uc001jju.1. human. [Q96QU1-1 ]
    uc001jjw.3. human. [Q96QU1-3 ]

    Organism-specific databases

    CTDi 65217.
    GeneCardsi GC10M055473.
    GeneReviewsi PCDH15.
    HGNCi HGNC:14674. PCDH15.
    MIMi 276900. phenotype.
    601067. phenotype.
    602083. phenotype.
    605514. gene.
    609533. phenotype.
    neXtProti NX_Q96QU1.
    Orphaneti 90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
    231169. Usher syndrome type 1.
    PharmGKBi PA32999.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253862.
    HOVERGENi HBG053521.
    KOi K16500.
    PhylomeDBi Q96QU1.

    Miscellaneous databases

    GeneWikii PCDH15.
    GenomeRNAii 65217.
    NextBioi 35483369.
    PROi Q96QU1.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q96QU1.
    CleanExi HS_PCDH15.
    Genevestigatori Q96QU1.

    Family and domain databases

    Gene3Di 2.60.40.60. 10 hits.
    InterProi IPR002126. Cadherin.
    IPR015919. Cadherin-like.
    IPR020894. Cadherin_CS.
    [Graphical view ]
    Pfami PF00028. Cadherin. 9 hits.
    [Graphical view ]
    PRINTSi PR00205. CADHERIN.
    SMARTi SM00112. CA. 11 hits.
    [Graphical view ]
    SUPFAMi SSF49313. SSF49313. 10 hits.
    PROSITEi PS00232. CADHERIN_1. 3 hits.
    PS50268. CADHERIN_2. 10 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INVOLVEMENT IN USHER SYNDROME TYPE 1F, VARIANT GLN-929.
      Tissue: Fetal brain.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN USHER SYNDROME TYPE 1F.
    3. "PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23."
      Ahmed Z.M., Riazuddin S., Ahmad J., Bernstein S.L., Guo Y., Sabar M.F., Sieving P., Riazuddin S., Griffith A.J., Friedman T.B., Belyantseva I.A., Wilcox E.R.
      Hum. Mol. Genet. 12:3215-3223(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS DFNB23 GLY-134 AND ASP-262.
    4. "Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome."
      Ahmed Z.M., Riazuddin S., Aye S., Ali R.A., Venselaar H., Anwar S., Belyantseva P.P., Qasim M., Riazuddin S., Friedman T.B.
      Hum. Genet. 124:215-223(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), TISSUE SPECIFICITY, VARIANT DFNB23 GLY-134, VARIANT USH1DF GLY-178.
      Tissue: Retina.
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANTS ALA-435 AND GLN-929.
      Tissue: Lymph node.
    6. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas."
      Rouget-Quermalet V., Giustiniani J., Marie-Cardine A., Beaud G., Besnard F., Loyaux D., Ferrara P., Leroy K., Shimizu N., Gaulard P., Bensussan A., Schmitt C.
      Oncogene 25:2807-2811(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION OF ISOFORMS 1 AND 3, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ALA-19.
    8. "Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population."
      Ouyang X.M., Yan D., Du L.L., Hejtmancik J.F., Jacobson S.G., Nance W.E., Li A.R., Angeli S., Kaiser M., Newton V., Brown S.D.M., Balkany T., Liu X.Z.
      Hum. Genet. 116:292-299(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS USH1F LYS-1342 AND THR-1867 DEL.
    9. "Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans."
      Zheng Q.Y., Yan D., Ouyang X.M., Du L.L., Yu H., Chang B., Johnson K.R., Liu X.Z.
      Hum. Mol. Genet. 14:103-111(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN USH1DF.

    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: October 1, 2014
    This is version 124 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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3