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P82279 Proteins EGF-like domain Repeats
Uniprot ID:P82279
Protein name: Protein crumbs homolog 1
Gene : CRB1
Protein Family:Crumbs protein family
Squence Length : 1406
Sequnce
>P82279 1407 MALKNINYLLIFYLSFSLLIYIKNSFCNKNNTRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNMKDPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETTIGSCGKNSCQHGGICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLEVDECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELEIDECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELNTDECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCETLMPLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEIDLNECNSNPCQSNGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEEDVNECSSNPCQNGGTCENLPGNYTCHCPFDNLSRTFYGGRDCSDILLGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIATTLSFEGDGFLWVKSGSVTTKGSVCNIALRFQTVQPMALLLFRSNRDVFVKLELLSGYIHLSIQVNNQSKVLLFISHNTSDGEWHFVEVIFAEAVTLTLIDDSCKEKCIAKAPTPLESDQSICAFQNSFLGGLPVGMTSNGVALLNFYNMPSTPSFVGCLQDIKIDWNHITLENISSGSSLNVKAGCVRKDWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLREYVAGRFGQDDSTGYVIFTLDESYGDTISLSMFVRTLQPSGLLLALENSTYQYIRVWLERGRLAMLTPNSPKLVVKFVLNDGNVHLISLKIKPYKIELYQSSQNLGFISASTWKIEKGDVIYIGGLPDKQETELNGGFFKGCIQDVRLNNQNLEFFPNPTNNASLNPVLVNVTQGCAGDNSCKSNPCHNGGVCHSRWDDFSCSCPALTSGKACEEVQWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQILFRSNGNITRELTNITFGFRTRDANVIILHAEKEPEFLNISIQDSRLFFQLQSGNSFYMLSLTSLQSVNDGTWHEVTLSMTDPLSQTSRWQMEVDNETPFVTSTIATGSLNFLKDNTDIYVGDRAIDNIKGLQGCLSTIEIGGIYLSYFENVHGFINKPQEEQFLKISTNSVVTGCLQLNVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELNIDECFSNPCIHGNCSDRVAAYHCTCEPGYTGVNCEVDIDNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQSRLPSTVCGNEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKDIDECASDPCVNGGLCQDLLNKFQCLCDVAFAGERCEVDLADDLISDIFTTIGSVTVALLLILLLAIVASVVTSNKRATQGTYSPSRQEKEGSRVEMWNLMPPPAMERLI
Domains
DOMAIN 30 68 EGF-like 1 DOMAIN 70 108 EGF-like 2 DOMAIN 110 146 EGF-like 3 DOMAIN 148 184 EGF-like 4 calcium-binding DOMAIN 186 222 EGF-like 5 calcium-binding DOMAIN 224 260 EGF-like 6 calcium-binding DOMAIN 262 299 EGF-like 7 calcium-binding DOMAIN 301 337 EGF-like 8 DOMAIN 339 395 EGF-like 9 DOMAIN 397 439 EGF-like 10 calcium-binding DOMAIN 441 481 EGF-like 11 DOMAIN 485 670 Laminin G-like 1 DOMAIN 672 708 EGF-like 12 DOMAIN 714 885 Laminin G-like 2 DOMAIN 887 923 EGF-like 13 DOMAIN 924 960 EGF-like 14 DOMAIN 950 1137 Laminin G-like 3 DOMAIN 1139 1175 EGF-like 15 DOMAIN 1177 1212 EGF-like 16 calcium-binding DOMAIN 1214 1250 EGF-like 17 DOMAIN 1255 1295 EGF-like 18 DOMAIN 1297 1333 EGF-like 19 calcium-binding
EGF-like sequence regions
30 - 68 TRCLSNSCQNNSTCKDFSKDNDCSCSDTANNLDKDCDNM 70 - 108 DPCFSNPCQGSATCVNTPGERSFLCKCPPGYSGTICETT 110 - 146 GSCGKNSCQHGGICHQDPIYPVCICPAGYAGRFCEID 148 - 184 DECASSPCQNGAVCQDGIDGYSCFCVPGYQGRHCDLE 186 - 222 DECASDPCKNEATCLNEIGRYTCICPHNYSGVNCELE 224 - 260 DECWSQPCLNGATCQDALGAYFCDCAPGFLGDHCELN 262 - 299 DECASQPCLHGGLCVDGENRYSCNCTGSGFTGTHCETL 301 - 337 PLCWSKPCHNNATCEDSVDNYTCHCWPGYTGAQCEID 339 - 395 NECNSNPCQSNGECVELSSEKQYGRITGLPSSFSYHEASGYVCICQPGFTGIHCEED 397 - 439 NECSSNPCQNGGTCENLPGNYTCHCPFDNLSRTFYGGRDCSDI 441 - 481 LGCTHQQCLNNGTCIPHFQDGQHGFSCLCPSGYTGSLCEIA 672 - 708 DWCESQPCQSRGRCINLWLSYQCDCHRPYEGPNCLRE 887 - 923 NSCKSNPCHNGGVCHSRWDDFSCSCPALTSGKACEEV 924 - 960 QWCGFSPCPHGAQCQPVLQGFECIANAVFNGQSGQIL 1139 - 1175 NVCNSNPCLHGGNCEDIYSSYHCSCPLGWSGKHCELN 1177 - 1212 DECFSNPCIHGNCSDRVAAYHCTCEPGYTGVNCEVD 1214 - 1250 DNCQSHQCANGATCISHTNGYSCLCFGNFTGKFCRQS 1255 - 1295 TVCGNEKTNLTCYNGGNCTEFQTELKCMCRPGFTGEWCEKD 1297 - 1333 DECASDPCVNGGLCQDLLNKFQCLCDVAFAGERCEVD
Function
Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion
Disease
"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 ; 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 Note=The disease is caused by mutations 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 Note=The disease is caused by mutations 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 Note=The disease is caused by mutations affecting the gene represented in this entry"