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Q96QU1

- PCD15_HUMAN

UniProt

Q96QU1 - PCD15_HUMAN

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Protein

Protocadherin-15

Gene

PCDH15

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. equilibrioception Source: HGNC
  2. homophilic cell adhesion via plasma membrane adhesion molecules Source: InterPro
  3. photoreceptor cell maintenance Source: HGNC
  4. sensory perception of light stimulus Source: HGNC
  5. sensory perception of sound Source: HGNC
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 13761350ExtracellularSequence AnalysisAdd
BLAST
Transmembranei1377 – 139721HelicalSequence AnalysisAdd
BLAST
Topological domaini1398 – 1955558CytoplasmicSequence AnalysisAdd
BLAST

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-KW
  6. stereocilium Source: HGNC
  7. synapse Source: HGNC
Complete GO annotation...

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.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 → Q in USH1F. 1 Publication
VAR_071696
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
Isoform 4 (identifier: Q96QU1-4)
Natural varianti1611 – 16111E → A in USH1F. 1 Publication
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 non-syndromic 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.
ExpressionAtlasiQ96QU1. baseline.
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...

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.
GeneTreeiENSGT00760000118805.
HOVERGENiHBG053521.
InParanoidiQ96QU1.
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

        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 ACF76477.1 differs from that shown. Reason: Unlikely isoform. Probable cloning artifact.Curated
Isoform 3 : The sequence CAD38850.2 differs from that shown. Reason: Erroneous termination at position 957. Translated as Val.Curated

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.2 Publications
Corresponds to variant rs11004439 [ dbSNP | Ensembl ].
VAR_028289
Natural varianti134 – 1341R → G in DFNB23. 2 Publications
VAR_024035
Natural varianti134 – 1341R → Q in USH1F. 1 Publication
VAR_071696
Natural varianti174 – 1741N → S.1 Publication
VAR_071697
Natural varianti178 – 1781D → G in USH1DF. 1 Publication
VAR_069297
Natural varianti262 – 2621G → D in DFNB23. 1 Publication
VAR_024036
Natural varianti380 – 3801G → S.1 Publication
Corresponds to variant rs10825269 [ dbSNP | Ensembl ].
VAR_028290
Natural varianti435 – 4351D → A.2 Publications
Corresponds to variant rs4935502 [ dbSNP | Ensembl ].
VAR_028291
Natural varianti929 – 9291R → Q.3 Publications
Corresponds to variant rs2135720 [ dbSNP | Ensembl ].
VAR_028292
Natural varianti1273 – 12731R → S.1 Publication
VAR_071698
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
Isoform 4 (identifier: Q96QU1-4)
Natural varianti1611 – 16111E → A in USH1F. 1 Publication

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:
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]
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.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:
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 .
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 ]
ENST00000395445 ; ENSP00000378832 ; ENSG00000150275 . [Q96QU1-4 ]
ENST00000616114 ; ENSP00000483745 ; ENSG00000150275 . [Q96QU1-6 ]
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 non-syndromic sensorineural deafness type DFNB.
231169. Usher syndrome type 1.
PharmGKBi PA32999.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG253862.
GeneTreei ENSGT00760000118805.
HOVERGENi HBG053521.
InParanoidi Q96QU1.
KOi K16500.
PhylomeDBi Q96QU1.

Miscellaneous databases

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

Gene expression databases

Bgeei Q96QU1.
CleanExi HS_PCDH15.
ExpressionAtlasi Q96QU1. baseline.
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

« Hide 'large scale' publications
  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.
  10. "Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I."
    Jaijo T., Oshima A., Aller E., Carney C., Usami S., Millan J.M., Kimberling W.J.
    Mol. Vis. 18:1719-1726(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS USH1F GLN-134 AND ALA-1161 (ISOFORM 4), VARIANTS ALA-19; SER-174; SER-380; ALA-435; GLN-929 AND SER-1273.

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 26, 2014
This is version 126 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

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