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P82279

- CRUM1_HUMAN

UniProt

P82279 - CRUM1_HUMAN

Protein

Protein crumbs homolog 1

Gene

CRB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 148 (01 Oct 2014)
      Sequence version 2 (19 Jul 2005)
      Previous versions | rss
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    Functioni

    Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.

    GO - Molecular functioni

    1. calcium ion binding Source: InterPro
    2. protein binding Source: IntAct

    GO - Biological processi

    1. cell-cell signaling Source: ProtInc
    2. establishment or maintenance of cell polarity Source: ProtInc
    3. eye photoreceptor cell development Source: Ensembl
    4. plasma membrane organization Source: Ensembl

    Keywords - Ligandi

    Calcium

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein crumbs homolog 1
    Gene namesi
    Name:CRB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:2343. CRB1.

    Subcellular locationi

    Isoform 1 : Apical cell membrane; Single-pass type I membrane protein
    Note: Distributed at the apical membrane of all retinal epithelial cells. Located in the apical membrane of the adherens junction in outer limiting membrane (OLM) of the retina.

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB-SubCell
    2. extracellular region Source: UniProtKB-SubCell
    3. integral component of membrane Source: UniProtKB-KW
    4. microvillus Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    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.
    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.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271C → F in RP12. 1 Publication
    VAR_064180
    Natural varianti45 – 451C → W in RP12. 1 Publication
    VAR_067125
    Natural varianti157 – 1571C → S in RP12. 1 Publication
    VAR_067126
    Natural varianti161 – 1611A → V in RP12. 1 Publication
    VAR_011641
    Natural varianti165 – 1673Missing in RP12.
    VAR_067127
    Natural varianti195 – 1951C → F in RP12. 1 Publication
    VAR_022943
    Natural varianti250 – 2501C → W in RP12. 2 Publications
    VAR_011642
    Natural varianti312 – 3121N → K in RP12. 1 Publication
    VAR_067130
    Natural varianti433 – 4331Y → C in RP12. 1 Publication
    VAR_022947
    Natural varianti534 – 5341K → N in RP12. 1 Publication
    VAR_068363
    Natural varianti578 – 5781V → E in RP12. 1 Publication
    VAR_022950
    Natural varianti587 – 5871C → Y in RP12. 1 Publication
    VAR_022952
    Natural varianti675 – 6751W → C in RP12. 1 Publication
    VAR_067139
    Natural varianti710 – 7101E → V in RP12. 2 Publications
    VAR_067140
    Natural varianti740 – 7401S → F in RP12. 1 Publication
    VAR_067141
    Natural varianti745 – 7451T → M in RP12 and LCA8. 8 Publications
    Corresponds to variant rs28939720 [ dbSNP | Ensembl ].
    VAR_011643
    Natural varianti749 – 7491Missing in RP12 and LCA8. 2 Publications
    VAR_022957
    Natural varianti764 – 7641R → C in RP12 and LCA8. 10 Publications
    VAR_011644
    Natural varianti836 – 8361P → T in RP12. 3 Publications
    Corresponds to variant rs116471343 [ dbSNP | Ensembl ].
    VAR_022960
    Natural varianti837 – 8371D → H in RP12; located on the same allele as T-1354. 1 Publication
    VAR_022961
    Natural varianti846 – 8461G → R in RP12. 2 Publications
    VAR_022962
    Natural varianti850 – 8501G → S in RP12 and LCA8. 3 Publications
    VAR_022963
    Natural varianti891 – 8911C → G in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 Publication
    VAR_022965
    Natural varianti894 – 8941N → S in RP12. 1 Publication
    VAR_022966
    Natural varianti901 – 9011V → I Found in a patient with RP12; unknown pathological significance. 1 Publication
    VAR_067145
    Natural varianti948 – 9481C → Y in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium. 14 Publications
    VAR_011645
    Natural varianti959 – 9591G → S Found in a patient with RP12; unknown pathological significance. 1 Publication
    VAR_022968
    Natural varianti962 – 9621Missing in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 Publication
    VAR_022969
    Natural varianti986 – 9861N → I in RP12. 1 Publication
    VAR_022970
    Natural varianti1012 – 10121L → S in RP12. 1 Publication
    VAR_067149
    Natural varianti1025 – 10251S → N in RP12. 1 Publication
    VAR_067150
    Natural varianti1041 – 10411M → T in RP12. 1 Publication
    VAR_011646
    Natural varianti1071 – 10711L → P in RP12. 2 Publications
    VAR_011647
    Natural varianti1099 – 10991T → K in RP12. 1 Publication
    VAR_067151
    Natural varianti1100 – 11001I → T in RP12. 2 Publications
    VAR_022973
    Natural varianti1103 – 11031G → R in LCA8 and RP12. 5 Publications
    VAR_022974
    Natural varianti1165 – 11651C → W in RP12. 1 Publication
    VAR_064181
    Natural varianti1174 – 11741C → G in LCA8 and RP12. 1 Publication
    VAR_067153
    Natural varianti1181 – 11811C → R in RP12. 1 Publication
    VAR_011649
    Natural varianti1305 – 13051P → L in RP12. 1 Publication
    VAR_067156
    Natural varianti1354 – 13541A → T Found in a patient with RP12; located on the same allele as H-837. 1 Publication
    VAR_022982
    Natural varianti1383 – 13831R → H in RP12. 2 Publications
    Corresponds to variant rs200573274 [ dbSNP | Ensembl ].
    VAR_022983
    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.17 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti144 – 1441F → V in LCA8. 1 Publication
    Corresponds to variant rs62636262 [ dbSNP | Ensembl ].
    VAR_022941
    Natural varianti333 – 3331G → D in LCA8. 1 Publication
    VAR_067131
    Natural varianti383 – 3831C → Y in LCA8. 1 Publication
    VAR_022946
    Natural varianti438 – 4381C → Y in LCA8. 1 Publication
    VAR_067132
    Natural varianti454 – 4541G → R in LCA8. 1 Publication
    VAR_067133
    Natural varianti480 – 4801C → G in LCA8. 1 Publication
    VAR_022948
    Natural varianti480 – 4801C → R in LCA8. 2 Publications
    VAR_022949
    Natural varianti535 – 5351L → P in LCA8. 1 Publication
    VAR_067136
    Natural varianti564 – 5641D → Y in LCA8. 1 Publication
    VAR_067137
    Natural varianti584 – 5841D → Y in LCA8. 2 Publications
    VAR_022951
    Natural varianti681 – 6811C → Y in LCA8. 2 Publications
    VAR_022954
    Natural varianti710 – 7101E → Q in LCA8. 1 Publication
    VAR_022955
    Natural varianti741 – 7411M → T in LCA8 and early-onset retinal dystrophy. 4 Publications
    VAR_022956
    Natural varianti745 – 7451T → M in RP12 and LCA8. 8 Publications
    Corresponds to variant rs28939720 [ dbSNP | Ensembl ].
    VAR_011643
    Natural varianti749 – 7491Missing in RP12 and LCA8. 2 Publications
    VAR_022957
    Natural varianti753 – 7531L → P in LCA8. 2 Publications
    VAR_067142
    Natural varianti764 – 7641R → C in RP12 and LCA8. 10 Publications
    VAR_011644
    Natural varianti850 – 8501G → S in RP12 and LCA8. 3 Publications
    VAR_022963
    Natural varianti852 – 8521I → T in LCA8. 2 Publications
    VAR_022964
    Natural varianti939 – 9391C → Y in LCA8. 1 Publication
    VAR_067147
    Natural varianti948 – 9481C → Y in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium. 14 Publications
    VAR_011645
    Natural varianti989 – 9891I → T in LCA8. 1 Publication
    VAR_022971
    Natural varianti1003 – 10031I → T in LCA8. 1 Publication
    VAR_067148
    Natural varianti1025 – 10251S → I in LCA8. 1 Publication
    VAR_022972
    Natural varianti1100 – 11001I → R in LCA8. 1 Publication
    VAR_011648
    Natural varianti1103 – 11031G → R in LCA8 and RP12. 5 Publications
    VAR_022974
    Natural varianti1107 – 11071L → P in LCA8. 2 Publications
    VAR_022975
    Natural varianti1107 – 11071L → R in LCA8. 1 Publication
    VAR_022976
    Natural varianti1161 – 11611Y → C in LCA8. 1 Publication
    VAR_067152
    Natural varianti1174 – 11741C → G in LCA8 and RP12. 1 Publication
    VAR_067153
    Natural varianti1205 – 12051G → R in LCA8. 1 Publication
    VAR_022977
    Natural varianti1218 – 12181C → F in LCA8. 1 Publication
    VAR_022978
    Natural varianti1317 – 13171N → H in LCA8. 1 Publication
    VAR_022979
    Natural varianti1321 – 13211C → S in LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium. 2 Publications
    VAR_022980
    Natural varianti1332 – 13321C → F in LCA8. 1 Publication
    VAR_067157
    Natural varianti1381 – 13811P → L in LCA8. 1 Publication
    VAR_067159
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti162 – 1621V → M in PPCRA. 1 Publication
    Corresponds to variant rs137853138 [ dbSNP | Ensembl ].
    VAR_022942

    Keywords - Diseasei

    Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

    Organism-specific databases

    MIMi172870. phenotype.
    268000. phenotype.
    600105. phenotype.
    613835. phenotype.
    Orphaneti65. Leber congenital amaurosis.
    251295. Pigmented paravenous retinochoroidal atrophy.
    791. Retinitis pigmentosa.
    PharmGKBiPA26863.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 14061381Protein crumbs homolog 1PRO_0000007500Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi30 – 301N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi34 ↔ 45By similarity
    Disulfide bondi39 ↔ 54By similarity
    Glycosylationi41 – 411N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi42 – 421N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi56 ↔ 67By similarity
    Disulfide bondi74 ↔ 85By similarity
    Disulfide bondi79 ↔ 96By similarity
    Disulfide bondi98 ↔ 107By similarity
    Disulfide bondi114 ↔ 125By similarity
    Disulfide bondi119 ↔ 134By similarity
    Disulfide bondi136 ↔ 145By similarity
    Disulfide bondi152 ↔ 163By similarity
    Disulfide bondi157 ↔ 172By similarity
    Disulfide bondi174 ↔ 183By similarity
    Disulfide bondi190 ↔ 201By similarity
    Disulfide bondi195 ↔ 210By similarity
    Disulfide bondi212 ↔ 221By similarity
    Glycosylationi215 – 2151N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi228 ↔ 239By similarity
    Disulfide bondi233 ↔ 248By similarity
    Disulfide bondi250 ↔ 259By similarity
    Disulfide bondi266 ↔ 277By similarity
    Disulfide bondi271 ↔ 286By similarity
    Glycosylationi287 – 2871N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi288 ↔ 298By similarity
    Disulfide bondi305 ↔ 316By similarity
    Disulfide bondi310 ↔ 325By similarity
    Glycosylationi313 – 3131N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi322 – 3221N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi327 ↔ 336By similarity
    Disulfide bondi343 ↔ 354By similarity
    Disulfide bondi348 ↔ 383By similarity
    Disulfide bondi385 ↔ 394By similarity
    Disulfide bondi401 ↔ 412By similarity
    Disulfide bondi406 ↔ 421By similarity
    Glycosylationi418 – 4181N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi423 ↔ 438By similarity
    Glycosylationi427 – 4271N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi445 ↔ 456By similarity
    Disulfide bondi450 ↔ 469By similarity
    Glycosylationi453 – 4531N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi471 ↔ 480By similarity
    Glycosylationi550 – 5501N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi561 – 5611N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi642 ↔ 670By similarity
    Glycosylationi657 – 6571N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi676 ↔ 687By similarity
    Disulfide bondi681 ↔ 696By similarity
    Disulfide bondi698 ↔ 707By similarity
    Glycosylationi757 – 7571N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi851 ↔ 885By similarity
    Glycosylationi871 – 8711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi880 – 8801N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi891 ↔ 902By similarity
    Disulfide bondi896 ↔ 911By similarity
    Disulfide bondi913 ↔ 922By similarity
    Disulfide bondi928 ↔ 939By similarity
    Disulfide bondi933 ↔ 948By similarity
    Glycosylationi968 – 9681N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi975 – 9751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1000 – 10001N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1096 ↔ 1137By similarity
    Disulfide bondi1143 ↔ 1154By similarity
    Disulfide bondi1148 ↔ 1163By similarity
    Disulfide bondi1165 ↔ 1174By similarity
    Disulfide bondi1181 ↔ 1191By similarity
    Disulfide bondi1186 ↔ 1200By similarity
    Glycosylationi1190 – 11901N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1202 ↔ 1211By similarity
    Disulfide bondi1218 ↔ 1229By similarity
    Disulfide bondi1223 ↔ 1238By similarity
    Disulfide bondi1240 ↔ 1249By similarity
    Glycosylationi1243 – 12431N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1259 ↔ 1274By similarity
    Glycosylationi1265 – 12651N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1268 ↔ 1283By similarity
    Glycosylationi1273 – 12731N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi1285 ↔ 1294By similarity
    Disulfide bondi1301 ↔ 1312By similarity
    Disulfide bondi1306 ↔ 1321By similarity
    Disulfide bondi1323 ↔ 1332By similarity

    Post-translational modificationi

    Extensively glycosylated.

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiP82279.
    PRIDEiP82279.

    PTM databases

    PhosphoSiteiP82279.

    Expressioni

    Tissue specificityi

    Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye.1 Publication

    Gene expression databases

    ArrayExpressiP82279.
    BgeeiP82279.
    CleanExiHS_CRB1.
    GenevestigatoriP82279.

    Interactioni

    Subunit structurei

    Forms a complex with MPDZ By similarity. Forms a complex with MPP4 and MPP5.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    INADLQ8NI352EBI-1048648,EBI-724390

    Protein-protein interaction databases

    BioGridi116990. 3 interactions.
    IntActiP82279. 3 interactions.
    MINTiMINT-1774304.
    STRINGi9606.ENSP00000356370.

    Structurei

    3D structure databases

    ProteinModelPortaliP82279.
    SMRiP82279. Positions 24-482, 736-923, 971-1336.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini26 – 13471322ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1369 – 140638CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei1348 – 136821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 6839EGF-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini70 – 10839EGF-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini110 – 14637EGF-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini148 – 18437EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini186 – 22237EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini224 – 26037EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini262 – 29938EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini301 – 33737EGF-like 8PROSITE-ProRule annotationAdd
    BLAST
    Domaini339 – 39557EGF-like 9PROSITE-ProRule annotationAdd
    BLAST
    Domaini397 – 43943EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini441 – 48141EGF-like 11PROSITE-ProRule annotationAdd
    BLAST
    Domaini485 – 670186Laminin G-like 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini672 – 70837EGF-like 12PROSITE-ProRule annotationAdd
    BLAST
    Domaini714 – 885172Laminin G-like 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini887 – 92337EGF-like 13PROSITE-ProRule annotationAdd
    BLAST
    Domaini924 – 96037EGF-like 14PROSITE-ProRule annotationAdd
    BLAST
    Domaini950 – 1137188Laminin G-like 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1139 – 117537EGF-like 15PROSITE-ProRule annotationAdd
    BLAST
    Domaini1177 – 121236EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1214 – 125037EGF-like 17PROSITE-ProRule annotationAdd
    BLAST
    Domaini1255 – 129541EGF-like 18PROSITE-ProRule annotationAdd
    BLAST
    Domaini1297 – 133337EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the Crumbs protein family.Curated
    Contains 19 EGF-like domains.PROSITE-ProRule annotation
    Contains 3 laminin G-like domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG080001.
    InParanoidiP82279.
    KOiK16681.
    OMAiQSICAFQ.
    OrthoDBiEOG7KH9HX.
    PhylomeDBiP82279.
    TreeFamiTF316224.

    Family and domain databases

    Gene3Di2.60.120.200. 3 hits.
    InterProiIPR008985. ConA-like_lec_gl_sf.
    IPR013320. ConA-like_subgrp.
    IPR000742. EG-like_dom.
    IPR001881. EGF-like_Ca-bd_dom.
    IPR013032. EGF-like_CS.
    IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
    IPR018097. EGF_Ca-bd_CS.
    IPR009030. Growth_fac_rcpt_N_dom.
    IPR001791. Laminin_G.
    [Graphical view]
    PfamiPF00008. EGF. 13 hits.
    PF12661. hEGF. 1 hit.
    PF02210. Laminin_G_2. 3 hits.
    [Graphical view]
    SMARTiSM00181. EGF. 9 hits.
    SM00179. EGF_CA. 8 hits.
    SM00282. LamG. 3 hits.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 3 hits.
    SSF57184. SSF57184. 2 hits.
    PROSITEiPS00010. ASX_HYDROXYL. 10 hits.
    PS00022. EGF_1. 15 hits.
    PS01186. EGF_2. 11 hits.
    PS50026. EGF_3. 19 hits.
    PS01187. EGF_CA. 7 hits.
    PS50025. LAM_G_DOMAIN. 3 hits.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

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

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P82279-1) [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

    MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK     50
    DNDCSCSDTA NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP 100
    GYSGTICETT IGSCGKNSCQ HGGICHQDPI YPVCICPAGY AGRFCEIDHD 150
    ECASSPCQNG AVCQDGIDGY SCFCVPGYQG RHCDLEVDEC ASDPCKNEAT 200
    CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ DALGAYFCDC 250
    APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET 300
    LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS 350
    NGECVELSSE KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE 400
    CSSNPCQNGG TCENLPGNYT CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC 450
    LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC EIATTLSFEG DGFLWVKSGS 500
    VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG YIHLSIQVNN 550
    QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE 600
    SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW 650
    NHITLENISS GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR 700
    PYEGPNCLRE YVAGRFGQDD STGYVIFTLD ESYGDTISLS MFVRTLQPSG 750
    LLLALENSTY QYIRVWLERG RLAMLTPNSP KLVVKFVLND GNVHLISLKI 800
    KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE TELNGGFFKG 850
    CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG 900
    VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA 950
    NAVFNGQSGQ ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN 1000
    ISIQDSRLFF QLQSGNSFYM LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR 1050
    WQMEVDNETP FVTSTIATGS LNFLKDNTDI YVGDRAIDNI KGLQGCLSTI 1100
    EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL NVCNSNPCLH 1150
    GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC 1200
    TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGYSCLC FGNFTGKFCR 1250
    QSRLPSTVCG NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE 1300
    CASDPCVNGG LCQDLLNKFQ CLCDVAFAGE RCEVDLADDL ISDIFTTIGS 1350
    VTVALLLILL LAIVASVVTS NKRATQGTYS PSRQEKEGSR VEMWNLMPPP 1400
    AMERLI 1406
    Length:1,406
    Mass (Da):154,183
    Last modified:July 19, 2005 - v2
    Checksum:iF2D04D20FAA6E37D
    GO
    Isoform 2 (identifier: P82279-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1336-1376: LADDLISDIF...VVTSNKRATQ → VSSLSFYVSL...VVEWGEQEDY
         1377-1406: Missing.

    Show »
    Length:1,376
    Mass (Da):151,413
    Checksum:iF380DF2AA046A2FE
    GO
    Isoform 3 (identifier: P82279-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         218-329: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,294
    Mass (Da):142,088
    Checksum:i469C464159974813
    GO
    Isoform 4 (identifier: P82279-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-351: Missing.
         352-390: GECVELSSEK...YVCICQPGFT → MIRNSLCQPS...GFHILMAMLI
         1294-1406: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:942
    Mass (Da):104,250
    Checksum:iA95CA11C40DAAF47
    GO
    Isoform 5 (identifier: P82279-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         710-1245: Missing.

    Show »
    Length:870
    Mass (Da):95,046
    Checksum:iEAC761848F0392AE
    GO

    Sequence cautioni

    The sequence CAE45845.1 differs from that shown. Reason: Erroneous termination at position 567. Translated as Trp.
    The sequence CAI16644.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271C → F in RP12. 1 Publication
    VAR_064180
    Natural varianti45 – 451C → W in RP12. 1 Publication
    VAR_067125
    Natural varianti144 – 1441F → V in LCA8. 1 Publication
    Corresponds to variant rs62636262 [ dbSNP | Ensembl ].
    VAR_022941
    Natural varianti157 – 1571C → S in RP12. 1 Publication
    VAR_067126
    Natural varianti161 – 1611A → V in RP12. 1 Publication
    VAR_011641
    Natural varianti162 – 1621V → M in PPCRA. 1 Publication
    Corresponds to variant rs137853138 [ dbSNP | Ensembl ].
    VAR_022942
    Natural varianti165 – 1673Missing in RP12.
    VAR_067127
    Natural varianti195 – 1951C → F in RP12. 1 Publication
    VAR_022943
    Natural varianti205 – 2051I → T Found in patients with Leber congenital amaurosis; unknown pathological significance. 3 Publications
    VAR_022944
    Natural varianti222 – 2221E → K.1 Publication
    Corresponds to variant rs114846212 [ dbSNP | Ensembl ].
    VAR_067128
    Natural varianti250 – 2501C → W in RP12. 2 Publications
    VAR_011642
    Natural varianti289 – 2891T → M Rare variant found in patients with retinal dystrophy; does not segregate with the disease in a family; unlikely to be pathogenic. 5 Publications
    VAR_022945
    Natural varianti310 – 3101C → Y Probable disease-associated mutation found in patients with early-onset retinal dystrophy. 1 Publication
    VAR_067129
    Natural varianti312 – 3121N → K in RP12. 1 Publication
    VAR_067130
    Natural varianti333 – 3331G → D in LCA8. 1 Publication
    VAR_067131
    Natural varianti383 – 3831C → Y in LCA8. 1 Publication
    VAR_022946
    Natural varianti433 – 4331Y → C in RP12. 1 Publication
    VAR_022947
    Natural varianti438 – 4381C → Y in LCA8. 1 Publication
    VAR_067132
    Natural varianti454 – 4541G → R in LCA8. 1 Publication
    VAR_067133
    Natural varianti480 – 4801C → G in LCA8. 1 Publication
    VAR_022948
    Natural varianti480 – 4801C → R in LCA8. 2 Publications
    VAR_022949
    Natural varianti488 – 4881F → S.1 Publication
    VAR_067134
    Natural varianti491 – 4911D → V Found in a patient with early-onset retinal dystrophy; unknown pathological significance. 1 Publication
    VAR_067135
    Natural varianti534 – 5341K → N in RP12. 1 Publication
    VAR_068363
    Natural varianti535 – 5351L → P in LCA8. 1 Publication
    VAR_067136
    Natural varianti564 – 5641D → Y in LCA8. 1 Publication
    VAR_067137
    Natural varianti578 – 5781V → E in RP12. 1 Publication
    VAR_022950
    Natural varianti584 – 5841D → Y in LCA8. 2 Publications
    VAR_022951
    Natural varianti587 – 5871C → Y in RP12. 1 Publication
    VAR_022952
    Natural varianti635 – 6351S → P Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 Publication
    VAR_067138
    Natural varianti675 – 6751W → C in RP12. 1 Publication
    VAR_067139
    Natural varianti679 – 6791Q → E.1 Publication
    VAR_022953
    Natural varianti681 – 6811C → Y in LCA8. 2 Publications
    VAR_022954
    Natural varianti710 – 7101E → Q in LCA8. 1 Publication
    VAR_022955
    Natural varianti710 – 7101E → V in RP12. 2 Publications
    VAR_067140
    Natural varianti740 – 7401S → F in RP12. 1 Publication
    VAR_067141
    Natural varianti741 – 7411M → T in LCA8 and early-onset retinal dystrophy. 4 Publications
    VAR_022956
    Natural varianti745 – 7451T → M in RP12 and LCA8. 8 Publications
    Corresponds to variant rs28939720 [ dbSNP | Ensembl ].
    VAR_011643
    Natural varianti749 – 7491Missing in RP12 and LCA8. 2 Publications
    VAR_022957
    Natural varianti753 – 7531L → P in LCA8. 2 Publications
    VAR_067142
    Natural varianti764 – 7641R → C in RP12 and LCA8. 10 Publications
    VAR_011644
    Natural varianti769 – 7691R → H.3 Publications
    Corresponds to variant rs62636287 [ dbSNP | Ensembl ].
    VAR_022958
    Natural varianti769 – 7691R → Q.1 Publication
    VAR_022959
    Natural varianti789 – 7891Missing in early-onset retinal dystrophy; probable disease-associated mutation. 1 Publication
    VAR_067143
    Natural varianti821 – 8211T → M.1 Publication
    VAR_067144
    Natural varianti836 – 8361P → T in RP12. 3 Publications
    Corresponds to variant rs116471343 [ dbSNP | Ensembl ].
    VAR_022960
    Natural varianti837 – 8371D → H in RP12; located on the same allele as T-1354. 1 Publication
    VAR_022961
    Natural varianti846 – 8461G → R in RP12. 2 Publications
    VAR_022962
    Natural varianti850 – 8501G → S in RP12 and LCA8. 3 Publications
    VAR_022963
    Natural varianti852 – 8521I → T in LCA8. 2 Publications