CLRN1
entrez
7401
canonical
uniprot
P58418
canonical
ensembl
ENSG00000163646
resolver
ensp
ENSP00000295911
resolver
ensp
ENSP00000322280
resolver
ensp
ENSP00000329158
resolver
ensp
ENSP00000419892
resolver
genesymbol
CLRN1
resolver
genesymbol_syn
USH3A
resolver
hgnc
HGNC:12605
resolver
uniprot
D3DNJ3
resolver
uniprot
E1ACU9
resolver
uniprot
Q8N6A9
resolver
uniprot_entry
CLRN1_HUMAN
resolver
uniprot_sec
D3DNJ3
resolver
uniprot_sec
E1ACU9
resolver
uniprot_sec
Q8N6A9
resolver
amino_acid_sequence
MPSQQKKIIFCMAGVFSFACALGVVTALGTPLWIKATVLCKTGALLVNASGQELDKFMGEMQYGLFHGEGVRQCGLGARPFRFSFFPDLLKAIPVSIHVNVILFSAILIVLTMVGTAFFMYNAFGKPFETLHGPLGLYLLSFISGSCGCLVMILFASEVKIHHLSEKIANYKEGTYVYKTQSEKYTTSFWVIFFCFFVHFLNGLLIRLAGFQFPFAKSKDAETTNVAADLMY
uniprot
proteins
disease_involvement
DISEASE: Usher syndrome 3A (USH3A) [MIM:276902]: 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). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. {ECO:0000269|PubMed:11524702, ECO:0000269|PubMed:12080385, ECO:0000269|PubMed:12145752, ECO:0000269|PubMed:15521980, ECO:0000269|PubMed:18273898, ECO:0000269|PubMed:23304067}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Retinitis pigmentosa 61 (RP61) [MIM:614180]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:21310491}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina. {ECO:0000269|PubMed:12080385}.
uniprot
proteins
mass_dalton
25719
uniprot
proteins
protein_family
Clarin family
uniprot
proteins
pubmed
11524702
uniprot
proteins
pubmed
12080385
uniprot
proteins
pubmed
12145752
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15521980
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18273898
uniprot
proteins
pubmed
20717163
uniprot
proteins
pubmed
21310491
uniprot
proteins
pubmed
23304067
uniprot
proteins
sequence_length
232
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21310491}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 101..121; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 135..155; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 186..206; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins