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Q96QU1 (PCD15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protocadherin-15
Gene names
Name:PCDH15
Synonyms:USH1F
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1955 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

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.

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Note: Efficient localization to the plasma membrane requires the presence of LHFPL5 By similarity. Ref.7

Isoform 3: Secreted Ref.7.

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. Ref.1 Ref.4 Ref.7

Domain

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.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Usher syndrome 1D/F (USH1DF) [MIM:601067]: 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. Ref.4 Ref.9

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Ref.4

Sequence similarities

Contains 11 cadherin domains.

Sequence caution

The sequence ACF76477.1 differs from that shown. Reason: Unlikely isoform. Probable cloning artifact.

Ontologies

Keywords
   Biological processCell adhesion
Hearing
   Cellular componentCell membrane
Membrane
Secreted
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
Retinitis pigmentosa
Usher syndrome
   DomainRepeat
Signal
Transmembrane
Transmembrane helix
   LigandCalcium
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processequilibrioception

Inferred from mutant phenotype PubMed 16679490. Source: HGNC

homophilic cell adhesion

Inferred from electronic annotation. Source: InterPro

photoreceptor cell maintenance

Inferred from mutant phenotype Ref.2. Source: HGNC

sensory perception of light stimulus

Inferred from mutant phenotype Ref.2. Source: HGNC

sensory perception of sound

Inferred from mutant phenotype Ref.2. Source: HGNC

   Cellular_componentextracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

extracellular space

Inferred from direct assay Ref.7. Source: HGNC

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

photoreceptor outer segment

Inferred from direct assay Ref.3. Source: HGNC

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

stereocilium

Inferred from sequence or structural similarity Ref.3. Source: HGNC

synapse

Inferred from direct assay Ref.1. Source: HGNC

   Molecular_functioncalcium ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96QU1-1)

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.
Isoform 2 (identifier: Q96QU1-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     1-1118: Missing.
     1119-1125: LRVPSKS → MTFSHSG
Isoform 3 (identifier: Q96QU1-3)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     957-961: GLPAS → VSRRH
     962-1955: Missing.
Note: Ref.5 (CAD38850) sequence differs from that shown at position 957 due to erroneous termination.
Isoform 4 (identifier: Q96QU1-4)

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.
Isoform 5 (identifier: Q96QU1-6)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 19551929Protocadherin-15
PRO_0000003998

Regions

Topological domain27 – 13761350Extracellular Potential
Transmembrane1377 – 139721Helical; Potential
Topological domain1398 – 1955558Cytoplasmic Potential
Domain40 – 147108Cadherin 1
Domain148 – 265118Cadherin 2
Domain278 – 395118Cadherin 3
Domain396 – 509114Cadherin 4
Domain510 – 616107Cadherin 5
Domain617 – 717101Cadherin 6
Domain719 – 819101Cadherin 7
Domain820 – 926107Cadherin 8
Domain927 – 1035109Cadherin 9
Domain1037 – 1144108Cadherin 10
Domain1145 – 1259115Cadherin 11
Compositional bias1435 – 14439Poly-Pro
Compositional bias1746 – 17527Poly-Pro
Compositional bias1815 – 18239Poly-Pro
Compositional bias1826 – 18316Poly-Pro

Amino acid modifications

Glycosylation521N-linked (GlcNAc...) Potential
Glycosylation971N-linked (GlcNAc...) Potential
Glycosylation2011N-linked (GlcNAc...) Potential
Glycosylation4191N-linked (GlcNAc...) Potential
Glycosylation5591N-linked (GlcNAc...) Potential
Glycosylation6621N-linked (GlcNAc...) Potential
Glycosylation7241N-linked (GlcNAc...) Potential
Glycosylation7681N-linked (GlcNAc...) Potential
Glycosylation8211N-linked (GlcNAc...) Potential
Glycosylation8511N-linked (GlcNAc...) Potential
Glycosylation10641N-linked (GlcNAc...) Potential
Glycosylation10841N-linked (GlcNAc...) Potential
Glycosylation11751N-linked (GlcNAc...) Potential
Disulfide bond32 ↔ 120 By similarity

Natural variations

Alternative sequence1 – 11181118Missing in isoform 2.
VSP_028257
Alternative sequence4351D → DVPPSGVP in isoform 4.
VSP_046616
Alternative sequence957 – 9615GLPAS → VSRRH in isoform 3.
VSP_028259
Alternative sequence962 – 1955994Missing in isoform 3.
VSP_028260
Alternative sequence1119 – 11257LRVPSKS → MTFSHSG in isoform 2.
VSP_028258
Alternative sequence1456 – 1776321ILFLL…SPFSL → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEEEP KKIKKPKVEIREPSEEEEVV VTIEKPPAAEPTYTTWKRAR IFPMIFKKVRGLADKRGIVD LEGEEWQRRLEEEDKDYLKL TLDQEEATESTVESEEESSS DYTEYSEEESEFSESETTEE ESESETPSEEEESSTPESEE SESTESEGEKARKNIVLARR RPMVEEVKEVKGRKEEPQEE QKEPKMEEEEHSEEEESGPA PVEESTDPEAQDIPEEGSAE SASVEGGVESEEESESGSSS SSSESQSGGPWGYQVPAYDR SKNANQKKSPGANSEGYNTA L in isoform 4.
VSP_046617
Alternative sequence1456 – 1675220ILFLL…FSTLP → MYEMPQYGSRRRLLPPAGQE EYGEVVGEAEEEYEEEEWAR KRMIKLVVDREYETSSTGED SAPECQRNRLHHPSIHSNIN GNIYIAQNGSVVRTRRACLT DNLKVASPVRLGGPFKKLDK LAVTHEENVPLNTLSKGPFS TEKMNARPTLVTFAPCPVGT DNTAVKPLRNRLKSTVEQES MIDSKNIKEALEFHSDHTQS DDEELWMGPWNNLHIPMTKL in isoform 5.
VSP_046618
Alternative sequence1676 – 1955280Missing in isoform 5.
VSP_046621
Alternative sequence1777 – 1955179Missing in isoform 4.
VSP_046622
Natural variant191S → A. Ref.7
Corresponds to variant rs11004439 [ dbSNP | Ensembl ].
VAR_028289
Natural variant1341R → G in DFNB23. Ref.3 Ref.4
VAR_024035
Natural variant1781D → G in USH1DF. Ref.4
VAR_069297
Natural variant2621G → D in DFNB23. Ref.3
VAR_024036
Natural variant3801G → S.
Corresponds to variant rs10825269 [ dbSNP | Ensembl ].
VAR_028290
Natural variant4351D → A. Ref.5
Corresponds to variant rs4935502 [ dbSNP | Ensembl ].
VAR_028291
Natural variant9291R → Q. Ref.1 Ref.5
Corresponds to variant rs2135720 [ dbSNP | Ensembl ].
VAR_028292
Natural variant13421Q → K in USH1F. Ref.8
Corresponds to variant rs61731387 [ dbSNP | Ensembl ].
VAR_024037
Natural variant18671Missing in USH1F. Ref.8
VAR_024038

Experimental info

Sequence conflict2611L → S in AAK31581. Ref.1
Sequence conflict4671Q → L in AAK31581. Ref.1
Sequence conflict12761Q → R in AAK31581. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) (CD1-1) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 23BA3A237CB188E7

FASTA1,955216,069
        10         20         30         40         50         60 
MFRQFYLWTC LASGIILGSL FEICLGQYDD DCKLARGGPP ATIVAIDEES RNGTILVDNM 

        70         80         90        100        110        120 
LIKGTAGGPD PTIELSLKDN VDYWVLMDPV KQMLFLNSTG RVLDRDPPMN IHSIVVQVQC 

       130        140        150        160        170        180 
INKKVGTIIY HEVRIVVRDR NDNSPTFKHE SYYATVNELT PVGTTIFTGF SGDNGATDID 

       190        200        210        220        230        240 
DGPNGQIEYV IQYNPDDPTS NDTFEIPLML TGNIVLRKRL NYEDKTRYFV IIQANDRAQN 

       250        260        270        280        290        300 
LNERRTTTTT LTVDVLDGDD LGPMFLPCVL VPNTRDCRPL TYQAAIPELR TPEELNPIIV 

       310        320        330        340        350        360 
TPPIQAIDQD RNIQPPSDRP GILYSILVGT PEDYPRFFHM HPRTAELSLL EPVNRDFHQK 

       370        380        390        400        410        420 
FDLVIKAEQD NGHPLPAFAG LHIEILDENN QSPYFTMPSY QGYILESAPV GATISDSLNL 

       430        440        450        460        470        480 
TSPLRIVALD KDIEDTKDPE LHLFLNDYTS VFTVTQTGIT RYLTLLQPVD REEQQTYTFS 

       490        500        510        520        530        540 
ITAFDGVQES EPVIVNIQVM DANDNTPTFP EISYDVYVYT DMRPGDSVIQ LTAVDADEGS 

       550        560        570        580        590        600 
NGEITYEILV GAQGDFIINK TTGLITIAPG VEMIVGRTYA LTVQAADNAP PAERRNSICT 

       610        620        630        640        650        660 
VYIEVLPPNN QSPPRFPQLM YSLEISEAMR VGAVLLNLQA TDREGDSITY AIENGDPQRV 

       670        680        690        700        710        720 
FNLSETTGIL TLGKALDRES TDRYILIITA SDGRPDGTST ATVNIVVTDV NDNAPVFDPY 

       730        740        750        760        770        780 
LPRNLSVVEE EANAFVGQVK ATDPDAGING QVHYSLGNFN NLFRITSNGS IYTAVKLNRE 

       790        800        810        820        830        840 
VRDYYELVVV ATDGAVHPRH STLTLAIKVL DIDDNSPVFT NSTYTVLVEE NLPAGTTILQ 

       850        860        870        880        890        900 
IEAKDVDLGA NVSYRIRSPE VKHFFALHPF TGELSLLRSL DYEAFPDQEA SITFLVEAFD 

       910        920        930        940        950        960 
IYGTMPPGIA TVTVIVKDMN DYPPVFSKRI YKGMVAPDAV KGTPITTVYA EDADPPGLPA 

       970        980        990       1000       1010       1020 
SRVRYRVDDV QFPYPASIFE VEEDSGRVIT RVNLNEEPTT IFKLVVVAFD DGEPVMSSSA 

      1030       1040       1050       1060       1070       1080 
TVKILVLHPG EIPRFTQEEY RPPPVSELAT KGTMVGVISA AAINQSIVYS IVSGNEEDTF 

      1090       1100       1110       1120       1130       1140 
GINNITGVIY VNGPLDYETR TSYVLRVQAD SLEVVLANLR VPSKSNTAKV YIEIQDENNH 

      1150       1160       1170       1180       1190       1200 
PPVFQKKFYI GGVSEDARMF TSVLRVKATD KDTGNYSVMA YRLIIPPIKE GKEGFVVETY 

      1210       1220       1230       1240       1250       1260 
TGLIKTAMLF HNMRRSYFKF QVIATDDYGK GLSGKADVLV SVVNQLDMQV IVSNVPPTLV 

      1270       1280       1290       1300       1310       1320 
EKKIEDLTEI LDRYVQEQIP GAKVVVESIG ARRHGDAFSL EDYTKCDLTV YAIDPQTNRA 

      1330       1340       1350       1360       1370       1380 
IDRNELFKFL DGKLLDINKD FQPYYGEGGR ILEIRTPEAV TSIKKRGESL GYTEGALLAL 

      1390       1400       1410       1420       1430       1440 
AFIIILCCIP AILVVLVSYR QFKVRQAECT KTARIQAALP AAKPAVPAPA PVAAPPPPPP 

      1450       1460       1470       1480       1490       1500 
PPPGAHLYEE LGDSSILFLL YHFQQSRGNN SVSEDRKHQQ VVMPFSSNTI EAHKSAHVDG 

      1510       1520       1530       1540       1550       1560 
SLKSNKLKSA RKFTFLSDED DLSAHNPLYK ENISQVSTNS DISQRTDFVD PFSPKIQAKS 

      1570       1580       1590       1600       1610       1620 
KSLRGPREKI QRLWSQSVSL PRRLMRKVPN RPEIIDLQQW QGTRQKAENE NTGICTNKRG 

      1630       1640       1650       1660       1670       1680 
SSNPLLTTEE ANLTEKEEIR QGETLMIEGT EQLKSLSSDS SFCFPRPHFS FSTLPTVSRT 

      1690       1700       1710       1720       1730       1740 
VELKSEPNVI SSPAECSLEL SPSRPCVLHS SLSRRETPIC MLPIETERNI FENFAHPPNI 

      1750       1760       1770       1780       1790       1800 
SPSACPLPPP PPISPPSPPP APAPLAPPPD ISPFSLFCPP PSPPSIPLPL PPPTFFPLSV 

      1810       1820       1830       1840       1850       1860 
STSGPPTPPL LPPFPTPLPP PPPSIPCPPP PSASFLSTEC VCITGVKCTT NLMPAEKIKS 

      1870       1880       1890       1900       1910       1920 
SMTQLSTTTV CKTDPQREPK GILRHVKNLA ELEKSVANMY SQIEKNYLRT NVSELQTMCP 

      1930       1940       1950 
SEVTNMEITS EQNKGSLNNI VEGTEKQSHS QSTSL 

« Hide

Isoform 2 (B) [UniParc].

Checksum: D7823874BDD9A3A8
Show »

FASTA83792,358
Isoform 3 (C) [UniParc].

Checksum: E4B429F6BDB9A547
Show »

FASTA961106,613
Isoform 4 (CD2-1) [UniParc].

Checksum: 8048D1CB309C6654
Show »

FASTA1,783197,906
Isoform 5 (CD3-1) [UniParc].

Checksum: CA24BBAF836E93E1
Show »

FASTA1,675185,964

References

« Hide 'large scale' references
[1]"Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F."
Alagramam K.N., Yuan H., Kuehn M.H., Murcia C.L., Wayne S., Srisailpathy C.R.S., Lowry R.B., Knaus R., Van Laer L., Bernier F.P., Schwartz S., Lee C., Morton C.C., Mullins R.F., Ramesh A., Van Camp G., Hagemen G.S., Woychik R.P., Smith R.J.H.
Hum. Mol. Genet. 10:1709-1718(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, INVOLVEMENT IN USHER SYNDROME TYPE 1F, VARIANT GLN-929.
Tissue: Fetal brain.
[2]"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F."
Ahmed Z.M., Riazuddin S., Bernstein S.L., Ahmed Z., Khan S., Griffith A.J., Morell R.J., Friedman T.B., Riazuddin S., Wilcox E.R.
Am. J. Hum. Genet. 69:25-34(2001) [PubMed] [Europe PMC] [Abstract]
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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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 expand/collapse EMBL AC list , AC013737, AC024073, AC027671, AL356114, AL360214 Genomic DNA. Translation: CAH72389.1.
AL353784 expand/collapse EMBL AC list , AC013737, AC016817, AC024073, AC027671, AL356114, AL360214, AL365496 Genomic DNA. Translation: CAH72390.1.
AL356114 expand/collapse EMBL AC list , AC013737, AC024073, AC027671, AL353784, AL360214 Genomic DNA. Translation: CAH71768.1.
AL356114 expand/collapse EMBL AC list , AC013737, AC016817, AC024073, AC027671, AL353784, AL360214, AL365496 Genomic DNA. Translation: CAH71769.1.
AL360214 expand/collapse EMBL AC list , AC013737, AC024073, AC027671, AL353784, AL356114 Genomic DNA. Translation: CAI15200.1.
AL360214 expand/collapse EMBL AC list , AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL365496 Genomic DNA. Translation: CAI15201.1.
AL365496 expand/collapse EMBL AC list , AC013737, AC016817, AC024073, AC027671, AL353784, AL356114, AL360214 Genomic DNA. Translation: CAH73916.1.
RefSeqNP_149045.3. NM_033056.3.
UniGeneHs.280209.

3D structure databases

ProteinModelPortalQ96QU1.
SMRQ96QU1. Positions 27-255.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122407. 1 interaction.
IntActQ96QU1. 1 interaction.
MINTMINT-2815151.
STRING9606.ENSP00000354950.

Chemistry

ChEMBLCHEMBL6112.

Protein family/group databases

TCDB1.A.82.1.1. the hair cell mechanotransduction channel (hcmc) family.

PTM databases

PhosphoSiteQ96QU1.

Polymorphism databases

DMDM116242702.

Proteomic databases

PaxDbQ96QU1.
PRIDEQ96QU1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320301; ENSP00000322604; ENSG00000150275. [Q96QU1-1]
ENST00000373955; ENSP00000363066; ENSG00000150275. [Q96QU1-3]
GeneID65217.
KEGGhsa:65217.
UCSCuc001jju.1. human. [Q96QU1-1]
uc001jjw.3. human. [Q96QU1-3]

Organism-specific databases

CTD65217.
GeneCardsGC10M055473.
HGNCHGNC:14674. PCDH15.
MIM276900. phenotype.
601067. phenotype.
602083. phenotype.
605514. gene.
609533. phenotype.
neXtProtNX_Q96QU1.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBPA32999.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253862.
HOVERGENHBG053521.
KOK16500.
PhylomeDBQ96QU1.

Gene expression databases

BgeeQ96QU1.
CleanExHS_PCDH15.
GenevestigatorQ96QU1.

Family and domain databases

Gene3D2.60.40.60. 10 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamPF00028. Cadherin. 9 hits.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 11 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 10 hits.
PROSITEPS00232. CADHERIN_1. 3 hits.
PS50268. CADHERIN_2. 10 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPCDH15.
GenomeRNAi65217.
NextBio35483369.
PROQ96QU1.
SOURCESearch...

Entry information

Entry namePCD15_HUMAN
AccessionPrimary (citable) accession number: Q96QU1
Secondary accession number(s): A6NL19 expand/collapse secondary AC list , C6ZEF5, C6ZEF6, C6ZEF7, Q5VY38, Q5VY39, Q6TRH8, Q8NDB9, Q96QT8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: October 17, 2006
Last modified: April 16, 2014
This is version 120 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM