CRB1
entrez
23418
canonical
uniprot
P82279
canonical
ensembl
ENSG00000134376
resolver
ensp
ENSP00000356369
resolver
ensp
ENSP00000356370
resolver
ensp
ENSP00000438786
resolver
ensp
ENSP00000491102
resolver
ensp
ENSP00000505267
resolver
enst
ENST00000535699
resolver
genesymbol
CRB1
resolver
hgnc
HGNC:2343
resolver
uniprot
A0A7D6VM04
resolver
uniprot
A2A308
resolver
uniprot
A8K118
resolver
uniprot
B7Z5T2
resolver
uniprot
B7Z824
resolver
uniprot
B7Z826
resolver
uniprot
B9EG71
resolver
uniprot
F5H0L2
resolver
uniprot
Q5K3A6
resolver
uniprot
Q5TC28
resolver
uniprot
Q5VUT1
resolver
uniprot
Q6N027
resolver
uniprot
Q8WWY0
resolver
uniprot
Q8WWY1
resolver
uniprot_entry
A0A7D6VM04_HUMAN
resolver
uniprot_entry
A8K118_HUMAN
resolver
uniprot_entry
B7Z824_HUMAN
resolver
uniprot_entry
B7Z826_HUMAN
resolver
uniprot_entry
CRUM1_HUMAN
resolver
uniprot_entry
F5H0L2_HUMAN
resolver
uniprot_sec
A2A308
resolver
uniprot_sec
B7Z5T2
resolver
uniprot_sec
B9EG71
resolver
uniprot_sec
Q5K3A6
resolver
uniprot_sec
Q5TC28
resolver
uniprot_sec
Q5VUT1
resolver
uniprot_sec
Q6N027
resolver
uniprot_sec
Q8WWY0
resolver
uniprot_sec
Q8WWY1
resolver
amino_acid_sequence
MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNMKDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEIDECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCETLMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYTCHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLESDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQETELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGGVCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSRWQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCGNEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGERCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPPAMERLI
uniprot
proteins
disease_involvement
DISEASE: Note=CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy among others. {ECO:0000269|PubMed:20683928, ECO:0000269|PubMed:22065545, ECO:0000269|PubMed:28819299}.; DISEASE: Retinitis pigmentosa 12 (RP12) [MIM:600105]: 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. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia. {ECO:0000269|PubMed:10508521, ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:11559858, ECO:0000269|PubMed:12573663, ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:19956407, ECO:0000269|PubMed:20591486, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:21987686, ECO:0000269|PubMed:22065545, ECO:0000269|PubMed:22128245, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:28819299}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber congenital amaurosis 8 (LCA8) [MIM:613835]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:11231775, ECO:0000269|PubMed:11389483, ECO:0000269|PubMed:12567265, ECO:0000269|PubMed:12573663, ECO:0000269|PubMed:12700176, ECO:0000269|PubMed:12843338, ECO:0000269|PubMed:15024725, ECO:0000269|PubMed:15459956, ECO:0000269|PubMed:15691574, ECO:0000269|PubMed:16205573, ECO:0000269|PubMed:16936081, ECO:0000269|PubMed:17128490, ECO:0000269|PubMed:17438615, ECO:0000269|PubMed:17724218, ECO:0000269|PubMed:18055821, ECO:0000269|PubMed:18682808, ECO:0000269|PubMed:20108431, ECO:0000269|PubMed:20956273, ECO:0000269|PubMed:21602930, ECO:0000269|PubMed:28819299}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pigmented paravenous chorioretinal atrophy (PPCRA) [MIM:172870]: Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein. {ECO:0000269|PubMed:15623792}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in photoreceptor morphogenesis in the retina (By similarity). May maintain cell polarization and adhesion (By similarity). {ECO:0000250|UniProtKB:Q8VHS2}.
uniprot
proteins
mass_dalton
154183
uniprot
proteins
mutagenesis
MUTAGEN 1377..1379; /note="Missing: Abolishes interaction with EPB41L5. No effection on interaction wtih PALS1."; /evidence="ECO:0000269|PubMed:17920587"; MUTAGEN 1403..1406; /note="Missing: Abolishes interaction with PALS1. Not required for interaction with EPB41L5."; /evidence="ECO:0000269|PubMed:17920587
uniprot
proteins
post_translational_modification
PTM: Extensively glycosylated. {ECO:0000269|PubMed:15914641}.
uniprot
proteins
protein_family
Crumbs protein family
uniprot
proteins
pubmed
10508521
uniprot
proteins
pubmed
11231775
uniprot
proteins
pubmed
11389483
uniprot
proteins
pubmed
11559858
uniprot
proteins
pubmed
11734541
uniprot
proteins
pubmed
12567265
uniprot
proteins
pubmed
12573663
uniprot
proteins
pubmed
12700176
uniprot
proteins
pubmed
12843338
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15024725
uniprot
proteins
pubmed
15459956
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15623792
uniprot
proteins
pubmed
15691574
uniprot
proteins
pubmed
15914641
uniprot
proteins
pubmed
16205573
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16936081
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17128490
uniprot
proteins
pubmed
17438615
uniprot
proteins
pubmed
17724218
uniprot
proteins
pubmed
17920587
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18055821
uniprot
proteins
pubmed
18682808
uniprot
proteins
pubmed
19140180
uniprot
proteins
pubmed
19956407
uniprot
proteins
pubmed
20108431
uniprot
proteins
pubmed
20591486
uniprot
proteins
pubmed
20683928
uniprot
proteins
pubmed
20956273
uniprot
proteins
pubmed
21602930
uniprot
proteins
pubmed
21987686
uniprot
proteins
pubmed
22065545
uniprot
proteins
pubmed
22128245
uniprot
proteins
pubmed
22334370
uniprot
proteins
pubmed
28819299
uniprot
proteins
pubmed
30120214
uniprot
proteins
sequence_length
1406
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Apical cell membrane {ECO:0000250|UniProtKB:Q8VHS2}; Single-pass type I membrane protein {ECO:0000255}. Secreted {ECO:0000305}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q8VHS2}. Photoreceptor inner segment {ECO:0000250|UniProtKB:Q8VHS2}.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted.
uniprot
proteins
transmembrane_region
TRANSMEM 1348..1368; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins