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Q96JP9 (CDHR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 94. 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·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cadherin-related family member 1
Alternative name(s):
Photoreceptor cadherin
Short name=prCAD
Protocadherin-21
Gene names
Name:CDHR1
Synonyms:KIAA1775, PCDH21, PRCAD
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length859 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells By similarity.

Subunit structure

Interacts with PROM1. Ref.5

Subcellular location

Cell membrane; Single-pass membrane protein By similarity. Note: Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region By similarity.

Post-translational modification

Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment By similarity.

Involvement in disease

Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 6 cadherin domains.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JP9-1)

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: Q96JP9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     681-744: TLSRSPMAAF...PMRRVLRKRP → VRRLRYMKNS...RVFQGAAQAS
     745-859: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 859840Cadherin-related family member 1
PRO_0000318498

Regions

Topological domain20 – 700681Extracellular Potential
Transmembrane701 – 72121Helical; Potential
Topological domain722 – 859138Cytoplasmic Potential
Domain36 – 135100Cadherin 1
Domain136 – 246111Cadherin 2
Domain247 – 353107Cadherin 3
Domain359 – 472114Cadherin 4
Domain473 – 576104Cadherin 5
Domain573 – 688116Cadherin 6
Compositional bias773 – 82957Pro-rich

Amino acid modifications

Glycosylation581N-linked (GlcNAc...) Potential
Glycosylation891N-linked (GlcNAc...) Potential
Glycosylation2961N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence681 – 74464TLSRS…LRKRP → VRRLRYMKNSNFPGTTKSVR KPKFKPKKPHSSQGLFLHPH CEIALFNLSNVNLYSRVFQG AAQAS in isoform 2.
VSP_031190
Alternative sequence745 – 859115Missing in isoform 2.
VSP_031191
Natural variant531H → Q.
Corresponds to variant rs12781048 [ dbSNP | Ensembl ].
VAR_038744
Natural variant2121A → T. Ref.7
VAR_038745
Natural variant2431A → V.
Corresponds to variant rs7086200 [ dbSNP | Ensembl ].
VAR_038746
Natural variant5321P → A. Ref.7
VAR_038747

Sequences

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

Last modified February 5, 2008. Version 2.
Checksum: 7D5D9E3E3353039A

FASTA85993,595
        10         20         30         40         50         60 
MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV GSHVYTLNGT 

        70         80         90        100        110        120 
DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER EDEIEAIISI SDGLNLVAEK 

       130        140        150        160        170        180 
VVILVTDAND EAPRFIQEPY VALVPEDIPA GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP 

       190        200        210        220        230        240 
FAVDRHSGVL RLQAGATLDY ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ 

       250        260        270        280        290        300 
DMAPVFVGTP YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG 

       310        320        330        340        350        360 
AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP PTFYGESGPQ 

       370        380        390        400        410        420 
NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV GPRGIFRVVP QTVLNEAQVT 

       430        440        450        460        470        480 
IIVENSAAID FEKSKVLTFK LLAVEVNTPE KFSSTADVVI QLLDTNDNVP KFDSLYYVAR 

       490        500        510        520        530        540 
IPENAPGGSS VVAVTAVDPD TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA 

       550        560        570        580        590        600 
TARYNFYVKA EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA 

       610        620        630        640        650        660 
EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC LWSLEVQAKD 

       670        680        690        700        710        720 
RGSPSFSTTA LLKIDITDAE TLSRSPMAAF LIQTKDNPMK AVGVLAGTMA TVVAITVLIS 

       730        740        750        760        770        780 
TATFWRNKKS NKVLPMRRVL RKRPSPAPRT IRIEWLKSKS TKAATKFMLK EKPPNENCNN 

       790        800        810        820        830        840 
NSPESSLLPR APALPPPPSV APSTGAAQWT VPTVSGSLTP QPTQPPPKPK TMGSPVQSTL 

       850 
ISELKQKFEK KSVHNKAYF 

« Hide

Isoform 2 [UniParc].

Checksum: 2DC1824EBB4AA7D9
Show »

FASTA74581,503

References

« Hide 'large scale' references
[1]"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].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Retinoblastoma.
[3]"Identification of three novel non-classical cadherin genes through comprehensive analysis of large cDNAs."
Nakajima D., Nakayama M., Kikuno R., Hirosawa M., Nagase T., Ohara O.
Brain Res. Mol. Brain Res. 94:85-95(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-859 (ISOFORM 1).
Tissue: Brain.
[4]"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] OF 595-859 (ISOFORM 1).
Tissue: Testis.
[5]"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice."
Yang Z., Chen Y., Lillo C., Chien J., Yu Z., Michaelides M., Klein M., Howes K.A., Li Y., Kaminoh Y., Chen H., Zhao C., Chen Y., Al-Sheikh Y.T., Karan G., Corbeil D., Escher P., Kamaya S. expand/collapse author list , Li C., Johnson S., Frederick J.M., Zhao Y., Wang C., Cameron D.J., Huttner W.B., Schorderet D.F., Munier F.L., Moore A.T., Birch D.G., Baehr W., Hunt D.M., Williams D.S., Zhang K.
J. Clin. Invest. 118:2908-2916(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PROM1.
[6]"Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy."
Ostergaard E., Batbayli M., Duno M., Vilhelmsen K., Rosenberg T.
J. Med. Genet. 47:665-669(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN CORD15.
[7]"Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies."
Bolz H., Ebermann I., Gal A.
Mol. Vis. 11:929-933(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS THR-212 AND ALA-532.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC022389 Genomic DNA. No translation available.
BC038799 mRNA. Translation: AAH38799.1.
AB053448 mRNA. Translation: BAB61905.1.
AL080188 mRNA. Translation: CAH10732.1.
RefSeqNP_001165442.1. NM_001171971.2.
NP_149091.1. NM_033100.3.
UniGeneHs.137556.
Hs.660813.

3D structure databases

ProteinModelPortalQ96JP9.
SMRQ96JP9. Positions 10-678.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124919. 2 interactions.

PTM databases

PhosphoSiteQ96JP9.

Polymorphism databases

DMDM166980558.

Proteomic databases

PaxDbQ96JP9.
PRIDEQ96JP9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332904; ENSP00000331063; ENSG00000148600. [Q96JP9-2]
ENST00000372117; ENSP00000361189; ENSG00000148600. [Q96JP9-1]
GeneID92211.
KEGGhsa:92211.
UCSCuc001kcv.3. human. [Q96JP9-1]
uc001kcw.3. human. [Q96JP9-2]

Organism-specific databases

CTD92211.
GeneCardsGC10P085954.
HGNCHGNC:14550. CDHR1.
HPAHPA036819.
HPA036820.
MIM609502. gene.
613660. phenotype.
neXtProtNX_Q96JP9.
Orphanet1872. Cone rod dystrophy.
791. Retinitis pigmentosa.
PharmGKBPA33005.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG286214.
HOGENOMHOG000082675.
HOVERGENHBG101964.
InParanoidQ96JP9.
KOK16501.
OMAYHISFDP.
OrthoDBEOG7QRQT4.
PhylomeDBQ96JP9.
TreeFamTF332908.

Gene expression databases

ArrayExpressQ96JP9.
BgeeQ96JP9.
CleanExHS_PCDH21.
GenevestigatorQ96JP9.

Family and domain databases

Gene3D2.60.40.60. 6 hits.
InterProIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamPF00028. Cadherin. 5 hits.
[Graphical view]
PRINTSPR00205. CADHERIN.
SMARTSM00112. CA. 6 hits.
[Graphical view]
SUPFAMSSF49313. SSF49313. 6 hits.
PROSITEPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi92211.
NextBio77634.
PROQ96JP9.
SOURCESearch...

Entry information

Entry nameCDHR1_HUMAN
AccessionPrimary (citable) accession number: Q96JP9
Secondary accession number(s): Q69YZ8, Q8IXY5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: March 19, 2014
This is version 94 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