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Q96JP9

- CDHR1_HUMAN

UniProt

Q96JP9 - CDHR1_HUMAN

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Protein

Cadherin-related family member 1

Gene
CDHR1, KIAA1775, PCDH21, PRCAD
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. cellular process Source: Ensembl
  2. homophilic cell adhesion Source: InterPro
  3. photoreceptor cell maintenance Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Cell adhesion

Keywords - Ligandi

Calcium

Names & Taxonomyi

Protein namesi
Recommended name:
Cadherin-related family member 1
Alternative name(s):
Photoreceptor cadherin
Short name:
prCAD
Protocadherin-21
Gene namesi
Name:CDHR1
Synonyms:KIAA1775, PCDH21, PRCAD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:14550. CDHR1.

Subcellular locationi

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 700681Extracellular Reviewed predictionAdd
BLAST
Transmembranei701 – 72121Helical; Reviewed predictionAdd
BLAST
Topological domaini722 – 859138Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: Ensembl
  2. photoreceptor outer segment membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Cone-rod dystrophy

Organism-specific databases

MIMi613660. phenotype.
Orphaneti1872. Cone rod dystrophy.
791. Retinitis pigmentosa.
PharmGKBiPA33005.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1919 Reviewed predictionAdd
BLAST
Chaini20 – 859840Cadherin-related family member 1PRO_0000318498Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi58 – 581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi89 – 891N-linked (GlcNAc...) Reviewed prediction
Glycosylationi296 – 2961N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

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

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96JP9.
PRIDEiQ96JP9.

PTM databases

PhosphoSiteiQ96JP9.

Expressioni

Gene expression databases

ArrayExpressiQ96JP9.
BgeeiQ96JP9.
CleanExiHS_PCDH21.
GenevestigatoriQ96JP9.

Organism-specific databases

HPAiHPA036819.
HPA036820.

Interactioni

Subunit structurei

Interacts with PROM1.1 Publication

Protein-protein interaction databases

BioGridi124919. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ96JP9.
SMRiQ96JP9. Positions 23-678.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini36 – 135100Cadherin 1Add
BLAST
Domaini136 – 246111Cadherin 2Add
BLAST
Domaini247 – 353107Cadherin 3Add
BLAST
Domaini359 – 472114Cadherin 4Add
BLAST
Domaini473 – 576104Cadherin 5Add
BLAST
Domaini573 – 688116Cadherin 6Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi773 – 82957Pro-richAdd
BLAST

Sequence similaritiesi

Contains 6 cadherin domains.

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG286214.
HOGENOMiHOG000082675.
HOVERGENiHBG101964.
InParanoidiQ96JP9.
KOiK16501.
OMAiYHISFDP.
OrthoDBiEOG7QRQT4.
PhylomeDBiQ96JP9.
TreeFamiTF332908.

Family and domain databases

Gene3Di2.60.40.60. 6 hits.
InterProiIPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view]
PfamiPF00028. Cadherin. 5 hits.
[Graphical view]
PRINTSiPR00205. CADHERIN.
SMARTiSM00112. CA. 6 hits.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 6 hits.
PROSITEiPS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JP9-1) [UniParc]FASTAAdd to Basket

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

MRRCRWAALA LGLLRLCLAQ ANFAPHFFDN GVGSTNGNMA LFSLPEDTPV    50
GSHVYTLNGT DPEGDPISYH ISFDPSTRSV FSVDPTFGNI TLVEELDRER 100
EDEIEAIISI SDGLNLVAEK VVILVTDAND EAPRFIQEPY VALVPEDIPA 150
GSIIFKVHAV DRDTGSGGSV TYFLQNLHSP FAVDRHSGVL RLQAGATLDY 200
ERSRTHYITV VAKDGGGRLH GADVVFSATT TVTVNVEDVQ DMAPVFVGTP 250
YYGYVYEDTL PGSEVLKVVA MDGDRGKPNR ILYSLVNGND GAFEINETSG 300
AISITQSPAQ LQREVYELHV QVTEMSPAGS PAAQATVPVT IRIVDLNNHP 350
PTFYGESGPQ NRFELSMNEH PPQGEILRGL KITVNDSDQG ANAKFNLQLV 400
GPRGIFRVVP QTVLNEAQVT IIVENSAAID FEKSKVLTFK LLAVEVNTPE 450
KFSSTADVVI QLLDTNDNVP KFDSLYYVAR IPENAPGGSS VVAVTAVDPD 500
TGPWGEVKYS TYGTGADLFL IHPSTGLIYT QPWASLDAEA TARYNFYVKA 550
EDMEGKYSVA EVFITLLDVN DHPPQFGKSV QKKTMVLGTP VKIEAIDEDA 600
EEPNNLVDYS ITHAEPANVF DINSHTGEIW LKNSIRSLDA LHNITPGRDC 650
LWSLEVQAKD RGSPSFSTTA LLKIDITDAE TLSRSPMAAF LIQTKDNPMK 700
AVGVLAGTMA TVVAITVLIS TATFWRNKKS NKVLPMRRVL RKRPSPAPRT 750
IRIEWLKSKS TKAATKFMLK EKPPNENCNN NSPESSLLPR APALPPPPSV 800
APSTGAAQWT VPTVSGSLTP QPTQPPPKPK TMGSPVQSTL ISELKQKFEK 850
KSVHNKAYF 859
Length:859
Mass (Da):93,595
Last modified:February 5, 2008 - v2
Checksum:i7D5D9E3E3353039A
GO
Isoform 2 (identifier: Q96JP9-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:745
Mass (Da):81,503
Checksum:i2DC1824EBB4AA7D9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531H → Q.
Corresponds to variant rs12781048 [ dbSNP | Ensembl ].
VAR_038744
Natural varianti212 – 2121A → T.1 Publication
VAR_038745
Natural varianti243 – 2431A → V.
Corresponds to variant rs7086200 [ dbSNP | Ensembl ].
VAR_038746
Natural varianti532 – 5321P → A.1 Publication
VAR_038747

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei681 – 74464TLSRS…LRKRP → VRRLRYMKNSNFPGTTKSVR KPKFKPKKPHSSQGLFLHPH CEIALFNLSNVNLYSRVFQG AAQAS in isoform 2. VSP_031190Add
BLAST
Alternative sequencei745 – 859115Missing in isoform 2. VSP_031191Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC022389 Genomic DNA. No translation available.
BC038799 mRNA. Translation: AAH38799.1.
AB053448 mRNA. Translation: BAB61905.1.
AL080188 mRNA. Translation: CAH10732.1.
CCDSiCCDS53548.1. [Q96JP9-2]
CCDS7372.1. [Q96JP9-1]
RefSeqiNP_001165442.1. NM_001171971.2. [Q96JP9-2]
NP_149091.1. NM_033100.3. [Q96JP9-1]
UniGeneiHs.137556.
Hs.660813.

Genome annotation databases

EnsembliENST00000332904; ENSP00000331063; ENSG00000148600. [Q96JP9-2]
ENST00000372117; ENSP00000361189; ENSG00000148600. [Q96JP9-1]
GeneIDi92211.
KEGGihsa:92211.
UCSCiuc001kcv.3. human. [Q96JP9-1]
uc001kcw.3. human. [Q96JP9-2]

Polymorphism databases

DMDMi166980558.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC022389 Genomic DNA. No translation available.
BC038799 mRNA. Translation: AAH38799.1 .
AB053448 mRNA. Translation: BAB61905.1 .
AL080188 mRNA. Translation: CAH10732.1 .
CCDSi CCDS53548.1. [Q96JP9-2 ]
CCDS7372.1. [Q96JP9-1 ]
RefSeqi NP_001165442.1. NM_001171971.2. [Q96JP9-2 ]
NP_149091.1. NM_033100.3. [Q96JP9-1 ]
UniGenei Hs.137556.
Hs.660813.

3D structure databases

ProteinModelPortali Q96JP9.
SMRi Q96JP9. Positions 23-678.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124919. 2 interactions.

PTM databases

PhosphoSitei Q96JP9.

Polymorphism databases

DMDMi 166980558.

Proteomic databases

PaxDbi Q96JP9.
PRIDEi Q96JP9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332904 ; ENSP00000331063 ; ENSG00000148600 . [Q96JP9-2 ]
ENST00000372117 ; ENSP00000361189 ; ENSG00000148600 . [Q96JP9-1 ]
GeneIDi 92211.
KEGGi hsa:92211.
UCSCi uc001kcv.3. human. [Q96JP9-1 ]
uc001kcw.3. human. [Q96JP9-2 ]

Organism-specific databases

CTDi 92211.
GeneCardsi GC10P085954.
HGNCi HGNC:14550. CDHR1.
HPAi HPA036819.
HPA036820.
MIMi 609502. gene.
613660. phenotype.
neXtProti NX_Q96JP9.
Orphaneti 1872. Cone rod dystrophy.
791. Retinitis pigmentosa.
PharmGKBi PA33005.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG286214.
HOGENOMi HOG000082675.
HOVERGENi HBG101964.
InParanoidi Q96JP9.
KOi K16501.
OMAi YHISFDP.
OrthoDBi EOG7QRQT4.
PhylomeDBi Q96JP9.
TreeFami TF332908.

Miscellaneous databases

GenomeRNAii 92211.
NextBioi 77634.
PROi Q96JP9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96JP9.
Bgeei Q96JP9.
CleanExi HS_PCDH21.
Genevestigatori Q96JP9.

Family and domain databases

Gene3Di 2.60.40.60. 6 hits.
InterProi IPR002126. Cadherin.
IPR015919. Cadherin-like.
IPR020894. Cadherin_CS.
[Graphical view ]
Pfami PF00028. Cadherin. 5 hits.
[Graphical view ]
PRINTSi PR00205. CADHERIN.
SMARTi SM00112. CA. 6 hits.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 6 hits.
PROSITEi PS00232. CADHERIN_1. 2 hits.
PS50268. CADHERIN_2. 6 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 595-859 (ISOFORM 1).
    Tissue: Testis.
  5. 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.

Entry informationi

Entry nameiCDHR1_HUMAN
AccessioniPrimary (citable) accession number: Q96JP9
Secondary accession number(s): Q69YZ8, Q8IXY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: February 5, 2008
Last modified: July 9, 2014
This is version 97 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

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