Q96QU1 (PCD15_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protocadherin-15

Gene names

Name:

PCDH15

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1955 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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. Interacts with CDH23 By similarity.
Subcellular location	Cell membrane; Single-pass type I membrane protein By similarity. Isoform 3: Secreted.
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. Ref.1 Ref.4
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.7 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.8 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
Sequence similarities	Contains 11 cadherin domains.

Ontologies

Keywords
Biological process	Cell adhesion Hearing
Cellular component	Cell membrane Membrane Secreted
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation Non-syndromic deafness Retinitis pigmentosa Usher syndrome
Domain	Repeat Signal Transmembrane Transmembrane helix
Ligand	Calcium
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	equilibrioception 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 sound Inferred from mutant phenotype Ref.2. Source: HGNC
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell extracellular space Inferred from direct assay Ref.4. Source: HGNC integral to 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_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96QU1-1)

Also known as: A;

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 1955	1929	Protocadherin-15		PRO_0000003998
Regions
	Topological domain	27 – 1376	1350	Extracellular Potential
	Transmembrane	1377 – 1397	21	Helical; Potential
	Topological domain	1398 – 1955	558	Cytoplasmic Potential
	Domain	40 – 147	108	Cadherin 1
	Domain	148 – 265	118	Cadherin 2
	Domain	278 – 395	118	Cadherin 3
	Domain	396 – 509	114	Cadherin 4
	Domain	510 – 616	107	Cadherin 5
	Domain	617 – 717	101	Cadherin 6
	Domain	719 – 819	101	Cadherin 7
	Domain	820 – 926	107	Cadherin 8
	Domain	927 – 1035	109	Cadherin 9
	Domain	1037 – 1144	108	Cadherin 10
	Domain	1145 – 1259	115	Cadherin 11
	Compositional bias	1435 – 1443	9	Poly-Pro
	Compositional bias	1746 – 1752	7	Poly-Pro
	Compositional bias	1815 – 1823	9	Poly-Pro
	Compositional bias	1826 – 1831	6	Poly-Pro
Amino acid modifications
	Glycosylation	52	1	N-linked (GlcNAc...) Potential
	Glycosylation	97	1	N-linked (GlcNAc...) Potential
	Glycosylation	201	1	N-linked (GlcNAc...) Potential
	Glycosylation	419	1	N-linked (GlcNAc...) Potential
	Glycosylation	559	1	N-linked (GlcNAc...) Potential
	Glycosylation	662	1	N-linked (GlcNAc...) Potential
	Glycosylation	724	1	N-linked (GlcNAc...) Potential
	Glycosylation	768	1	N-linked (GlcNAc...) Potential
	Glycosylation	821	1	N-linked (GlcNAc...) Potential
	Glycosylation	851	1	N-linked (GlcNAc...) Potential
	Glycosylation	1064	1	N-linked (GlcNAc...) Potential
	Glycosylation	1084	1	N-linked (GlcNAc...) Potential
	Glycosylation	1175	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 1118	1118	Missing in isoform 2.		VSP_028257
	Alternative sequence	957 – 961	5	GLPAS → VSRRH in isoform 3.		VSP_028259
	Alternative sequence	962 – 1955	994	Missing in isoform 3.		VSP_028260
	Alternative sequence	1119 – 1125	7	LRVPSKS → MTFSHSG in isoform 2.		VSP_028258
	Natural variant	19	1	S → A. Ref.4 Corresponds to variant rs11004439 [ dbSNP | Ensembl ].		VAR_028289
	Natural variant	134	1	R → G in DFNB23. Ref.3		VAR_024035
	Natural variant	262	1	G → D in DFNB23. Ref.3		VAR_024036
	Natural variant	380	1	G → S. Corresponds to variant rs10825269 [ dbSNP | Ensembl ].		VAR_028290
	Natural variant	435	1	D → A. Ref.5 Corresponds to variant rs4935502 [ dbSNP | Ensembl ].		VAR_028291
	Natural variant	929	1	R → Q. Ref.1 Ref.5 Corresponds to variant rs2135720 [ dbSNP | Ensembl ].		VAR_028292
	Natural variant	1342	1	Q → K in USH1F. Ref.7		VAR_024037
	Natural variant	1867	1	Missing in USH1F. Ref.7		VAR_024038
Experimental info
	Sequence conflict	261	1	L → S in AAK31581. Ref.1
	Sequence conflict	467	1	Q → L in AAK31581. Ref.1
	Sequence conflict	1276	1	Q → R in AAK31581. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified October 17, 2006. Version 2. Checksum: 23BA3A237CB188E7	FASTA	1,955	216,069
	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
	Isoform 2 (B) [UniParc]. Checksum: D7823874BDD9A3A8	FASTA	837	92,358
	10 20 30 40 50 60 MTFSHSGNTA KVYIEIQDEN NHPPVFQKKF YIGGVSEDAR MFTSVLRVKA TDKDTGNYSV 70 80 90 100 110 120 MAYRLIIPPI KEGKEGFVVE TYTGLIKTAM LFHNMRRSYF KFQVIATDDY GKGLSGKADV 130 140 150 160 170 180 LVSVVNQLDM QVIVSNVPPT LVEKKIEDLT EILDRYVQEQ IPGAKVVVES IGARRHGDAF 190 200 210 220 230 240 SLEDYTKCDL TVYAIDPQTN RAIDRNELFK FLDGKLLDIN KDFQPYYGEG GRILEIRTPE 250 260 270 280 290 300 AVTSIKKRGE SLGYTEGALL ALAFIIILCC IPAILVVLVS YRQFKVRQAE CTKTARIQAA 310 320 330 340 350 360 LPAAKPAVPA PAPVAAPPPP PPPPPGAHLY EELGDSSILF LLYHFQQSRG NNSVSEDRKH 370 380 390 400 410 420 QQVVMPFSSN TIEAHKSAHV DGSLKSNKLK SARKFTFLSD EDDLSAHNPL YKENISQVST 430 440 450 460 470 480 NSDISQRTDF VDPFSPKIQA KSKSLRGPRE KIQRLWSQSV SLPRRLMRKV PNRPEIIDLQ 490 500 510 520 530 540 QWQGTRQKAE NENTGICTNK RGSSNPLLTT EEANLTEKEE IRQGETLMIE GTEQLKSLSS 550 560 570 580 590 600 DSSFCFPRPH FSFSTLPTVS RTVELKSEPN VISSPAECSL ELSPSRPCVL HSSLSRRETP 610 620 630 640 650 660 ICMLPIETER NIFENFAHPP NISPSACPLP PPPPISPPSP PPAPAPLAPP PDISPFSLFC 670 680 690 700 710 720 PPPSPPSIPL PLPPPTFFPL SVSTSGPPTP PLLPPFPTPL PPPPPSIPCP PPPSASFLST 730 740 750 760 770 780 ECVCITGVKC TTNLMPAEKI KSSMTQLSTT TVCKTDPQRE PKGILRHVKN LAELEKSVAN 790 800 810 820 830 MYSQIEKNYL RTNVSELQTM CPSEVTNMEI TSEQNKGSLN NIVEGTEKQS HSQSTSL
	Isoform 3 (C) [UniParc]. Checksum: E4B429F6BDB9A547	FASTA	961	106,613
	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 EDADPPVSRR H

References

	« Hide 'large scale' referencesShow '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]	"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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANT ALA-19.
[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. , 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]	"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.
[8]	"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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY029205 mRNA. Translation: AAK31581.1. AY029237 mRNA. Translation: AAK31804.1. AY388963 mRNA. Translation: AAR26468.1. 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.
IPI	IPI00290035. IPI00513908. IPI00646069.
RefSeq	NP_149045.3. NM_033056.3.
UniGene	Hs.280209.
3D structure databases
ProteinModelPortal	Q96QU1.
SMR	Q96QU1. Positions 46-1244.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000354950.
PTM databases
PhosphoSite	Q96QU1.
Polymorphism databases
DMDM	116242702.
Proteomic databases
PaxDb	Q96QU1.
PRIDE	Q96QU1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320301; ENSP00000322604; ENSG00000150275. ENST00000373955; ENSP00000363066; ENSG00000150275.
GeneID	65217.
KEGG	hsa:65217.
UCSC	uc001jju.1. human. uc001jjw.3. human.
Organism-specific databases
CTD	65217.
GeneCards	GC10M055473.
HGNC	HGNC:14674. PCDH15.
MIM	276900. phenotype. 601067. phenotype. 602083. phenotype. 605514. gene. 609533. phenotype.
neXtProt	NX_Q96QU1.
Orphanet	90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB. 231169. Usher syndrome type 1.
PharmGKB	PA32999.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG253862.
HOVERGEN	HBG053521.
KO	K16500.
Gene expression databases
ArrayExpress	Q96QU1.
Bgee	Q96QU1.
CleanEx	HS_PCDH15.
Genevestigator	Q96QU1.
GermOnline	ENSG00000150275. Homo sapiens.
Family and domain databases
Gene3D	2.60.40.60. 10 hits.
InterPro	IPR002126. Cadherin. IPR015919. Cadherin-like. IPR020894. Cadherin_CS. [Graphical view]
Pfam	PF00028. Cadherin. 9 hits. [Graphical view]
PRINTS	PR00205. CADHERIN.
SMART	SM00112. CA. 11 hits. [Graphical view]
SUPFAM	SSF49313. Cadherin. 10 hits.
PROSITE	PS00232. CADHERIN_1. 3 hits. PS50268. CADHERIN_2. 10 hits. [Graphical view]
ProtoNet	Search...
Other
ChEMBL	CHEMBL6112.
GenomeRNAi	65217.
NextBio	67346.
SOURCE	Search...

Entry information

Entry name

PCD15_HUMAN

Accession

Primary (citable) accession number: Q96QU1
Secondary accession number(s): A6NL19 , Q5VY38, Q5VY39, Q6TRH8, Q8NDB9, Q96QT8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 109 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.