CDHR1
entrez
92211
canonical
uniprot
Q96JP9
canonical
ensembl
ENSG00000148600
resolver
ensp
ENSP00000331063
resolver
ensp
ENSP00000361189
resolver
ensp
ENSP00000485478
resolver
genesymbol
CDHR1
resolver
genesymbol_syn
KIAA1775
resolver
genesymbol_syn
PCDH21
resolver
genesymbol_syn
PRCAD
resolver
hgnc
HGNC:14550
resolver
uniprot
F1T0L2
resolver
uniprot
Q69YZ8
resolver
uniprot
Q8IXY5
resolver
uniprot_entry
CDHR1_HUMAN
resolver
uniprot_entry
F1T0L2_HUMAN
resolver
uniprot_sec
Q69YZ8
resolver
uniprot_sec
Q8IXY5
resolver
amino_acid_sequence
MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGTDPEGDPISYHISFDPSTRSVFSVDPTFGNITLVEELDREREDEIEAIISISDGLNLVAEKVVILVTDANDEAPRFIQEPYVALVPEDIPAGSIIFKVHAVDRDTGSGGSVTYFLQNLHSPFAVDRHSGVLRLQAGATLDYERSRTHYITVVAKDGGGRLHGADVVFSATTTVTVNVEDVQDMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNRILYSLVNGNDGAFEINETSGAISITQSPAQLQREVYELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHPPTFYGESGPQNRFELSMNEHPPQGEILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVTIIVENSAAIDFEKSKVLTFKLLAVEVNTPEKFSSTADVVIQLLDTNDNVPKFDSLYYVARIPENAPGGSSVVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPSTGLIYTQPWASLDAEATARYNFYVKAEDMEGKYSVAEVFITLLDVNDHPPQFGKSVQKKTMVLGTPVKIEAIDEDAEEPNNLVDYSITHAEPANVFDINSHTGEIWLKNSIRSLDALHNITPGRDCLWSLEVQAKDRGSPSFSTTALLKIDITDAETLSRSPMAAFLIQTKDNPMKAVGVLAGTMATVVAITVLISTATFWRNKKSNKVLPMRRVLRKRPSPAPRTIRIEWLKSKSTKAATKFMLKEKPPNENCNNNSPESSLLPRAPALPPPPSVAPSTGAAQWTVPTVSGSLTPQPTQPPPKPKTMGSPVQSTLISELKQKFEKKSVHNKAYF
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 15 (CORD15) [MIM:613660]: An autosomal recessive 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:20805371, ECO:0000269|PubMed:26350383}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
93595
uniprot
proteins
post_translational_modification
PTM: Undergoes proteolytic cleavage; produces a soluble 95 kDa N-terminal fragment and a 25 kDa cell-associated C-terminal fragment. {ECO:0000250}.
uniprot
proteins
pubmed
11597768
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16288196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18654668
uniprot
proteins
pubmed
20805371
uniprot
proteins
pubmed
26350383
uniprot
proteins
pubmed
28965847
uniprot
proteins
pubmed
30120214
uniprot
proteins
sequence_length
859
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. 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). {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 701..721; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins