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Protein

Protein crumbs homolog 1

Gene

CRB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

  • cell-cell signaling Source: ProtInc
  • establishment or maintenance of cell polarity Source: ProtInc
  • eye photoreceptor cell development Source: Ensembl
  • plasma membrane organization Source: Ensembl
  • protein export from nucleus Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134376-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein crumbs homolog 1
Gene namesi
Name:CRB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:2343. CRB1.

Subcellular locationi

Isoform 1 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini26 – 1347ExtracellularSequence analysisAdd BLAST1322
Transmembranei1348 – 1368HelicalSequence analysisAdd BLAST21
Topological domaini1369 – 1406CytoplasmicSequence analysisAdd BLAST38

GO - Cellular componenti

Complete GO annotation...

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)14 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600105
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06418027C → F in RP12. 1 Publication1
Natural variantiVAR_06712545C → W in RP12. 1 PublicationCorresponds to variant rs145141811dbSNPEnsembl.1
Natural variantiVAR_067126157C → S in RP12. 1 Publication1
Natural variantiVAR_011641161A → V in RP12. 1 PublicationCorresponds to variant rs62635651dbSNPEnsembl.1
Natural variantiVAR_067127165 – 167Missing in RP12. 3
Natural variantiVAR_022943195C → F in RP12. 1 PublicationCorresponds to variant rs764256655dbSNPEnsembl.1
Natural variantiVAR_011642250C → W in RP12. 2 PublicationsCorresponds to variant rs62635652dbSNPEnsembl.1
Natural variantiVAR_067130312N → K in RP12. 1 Publication1
Natural variantiVAR_022947433Y → C in RP12. 1 PublicationCorresponds to variant rs62636288dbSNPEnsembl.1
Natural variantiVAR_068363534K → N in RP12. 1 Publication1
Natural variantiVAR_022950578V → E in RP12. 1 Publication1
Natural variantiVAR_022952587C → Y in RP12. 1 Publication1
Natural variantiVAR_067139675W → C in RP12. 1 Publication1
Natural variantiVAR_067140710E → V in RP12. 2 PublicationsCorresponds to variant rs145282040dbSNPEnsembl.1
Natural variantiVAR_067141740S → F in RP12. 1 Publication1
Natural variantiVAR_011643745T → M in RP12 and LCA8. 8 PublicationsCorresponds to variant rs28939720dbSNPEnsembl.1
Natural variantiVAR_022957749Missing in RP12 and LCA8. 2 Publications1
Natural variantiVAR_011644764R → C in RP12 and LCA8. 10 PublicationsCorresponds to variant rs62635654dbSNPEnsembl.1
Natural variantiVAR_022960836P → T in RP12. 3 PublicationsCorresponds to variant rs116471343dbSNPEnsembl.1
Natural variantiVAR_022961837D → H in RP12; located on the same allele as T-1354. 1 PublicationCorresponds to variant rs62636289dbSNPEnsembl.1
Natural variantiVAR_022962846G → R in RP12. 2 PublicationsCorresponds to variant rs539189291dbSNPEnsembl.1
Natural variantiVAR_022963850G → S in RP12 and LCA8. 3 PublicationsCorresponds to variant rs776591659dbSNPEnsembl.1
Natural variantiVAR_022965891C → G in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 PublicationCorresponds to variant rs62635658dbSNPEnsembl.1
Natural variantiVAR_022966894N → S in RP12. 1 PublicationCorresponds to variant rs62636290dbSNPEnsembl.1
Natural variantiVAR_067145901V → I Found in a patient with RP12; unknown pathological significance. 1 Publication1
Natural variantiVAR_011645948C → Y in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium. 14 PublicationsCorresponds to variant rs62645748dbSNPEnsembl.1
Natural variantiVAR_022968959G → S Found in a patient with RP12; unknown pathological significance. 1 PublicationCorresponds to variant rs557111131dbSNPEnsembl.1
Natural variantiVAR_022969962Missing in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 Publication1
Natural variantiVAR_022970986N → I in RP12. 1 Publication1
Natural variantiVAR_0671491012L → S in RP12. 1 Publication1
Natural variantiVAR_0671501025S → N in RP12. 1 Publication1
Natural variantiVAR_0116461041M → T in RP12. 1 PublicationCorresponds to variant rs62635656dbSNPEnsembl.1
Natural variantiVAR_0116471071L → P in RP12. 2 PublicationsCorresponds to variant rs62635657dbSNPEnsembl.1
Natural variantiVAR_0671511099T → K in RP12. 1 Publication1
Natural variantiVAR_0229731100I → T in RP12. 2 PublicationsCorresponds to variant rs62635659dbSNPEnsembl.1
Natural variantiVAR_0229741103G → R in LCA8 and RP12. 5 PublicationsCorresponds to variant rs62636275dbSNPEnsembl.1
Natural variantiVAR_0641811165C → W in RP12. 1 Publication1
Natural variantiVAR_0671531174C → G in LCA8 and RP12. 1 Publication1
Natural variantiVAR_0116491181C → R in RP12. 1 PublicationCorresponds to variant rs62636291dbSNPEnsembl.1
Natural variantiVAR_0671561305P → L in RP12. 1 Publication1
Natural variantiVAR_0229821354A → T Found in a patient with RP12; located on the same allele as H-837. 1 PublicationCorresponds to variant rs200469148dbSNPEnsembl.1
Natural variantiVAR_0229831383R → H in RP12. 2 PublicationsCorresponds to variant rs200573274dbSNPEnsembl.1
Leber congenital amaurosis 8 (LCA8)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613835
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022941144F → V in LCA8. 1 PublicationCorresponds to variant rs62636262dbSNPEnsembl.1
Natural variantiVAR_067131333G → D in LCA8. 1 PublicationCorresponds to variant rs587783015dbSNPEnsembl.1
Natural variantiVAR_022946383C → Y in LCA8. 1 PublicationCorresponds to variant rs62645754dbSNPEnsembl.1
Natural variantiVAR_067132438C → Y in LCA8. 1 Publication1
Natural variantiVAR_067133454G → R in LCA8. 1 Publication1
Natural variantiVAR_022948480C → G in LCA8. 1 Publication1
Natural variantiVAR_022949480C → R in LCA8. 2 PublicationsCorresponds to variant rs62636264dbSNPEnsembl.1
Natural variantiVAR_067136535L → P in LCA8. 1 PublicationCorresponds to variant rs113082791dbSNPEnsembl.1
Natural variantiVAR_067137564D → Y in LCA8. 1 Publication1
Natural variantiVAR_022951584D → Y in LCA8. 2 Publications1
Natural variantiVAR_022954681C → Y in LCA8. 2 PublicationsCorresponds to variant rs62636266dbSNPEnsembl.1
Natural variantiVAR_022955710E → Q in LCA8. 1 PublicationCorresponds to variant rs62645755dbSNPEnsembl.1
Natural variantiVAR_022956741M → T in LCA8; also found in patients with early-onset rod-cone retinal dystrophy. 4 PublicationsCorresponds to variant rs62636267dbSNPEnsembl.1
Natural variantiVAR_011643745T → M in RP12 and LCA8. 8 PublicationsCorresponds to variant rs28939720dbSNPEnsembl.1
Natural variantiVAR_022957749Missing in RP12 and LCA8. 2 Publications1
Natural variantiVAR_067142753L → P in LCA8. 2 Publications1
Natural variantiVAR_011644764R → C in RP12 and LCA8. 10 PublicationsCorresponds to variant rs62635654dbSNPEnsembl.1
Natural variantiVAR_022963850G → S in RP12 and LCA8. 3 PublicationsCorresponds to variant rs776591659dbSNPEnsembl.1
Natural variantiVAR_022964852I → T in LCA8. 2 PublicationsCorresponds to variant rs62636271dbSNPEnsembl.1
Natural variantiVAR_067147939C → Y in LCA8. 1 Publication1
Natural variantiVAR_011645948C → Y in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium. 14 PublicationsCorresponds to variant rs62645748dbSNPEnsembl.1
Natural variantiVAR_022971989I → T in LCA8. 1 Publication1
Natural variantiVAR_0671481003I → T in LCA8. 1 Publication1
Natural variantiVAR_0229721025S → I in LCA8. 1 PublicationCorresponds to variant rs62636274dbSNPEnsembl.1
Natural variantiVAR_0116481100I → R in LCA8. 1 PublicationCorresponds to variant rs62635659dbSNPEnsembl.1
Natural variantiVAR_0229741103G → R in LCA8 and RP12. 5 PublicationsCorresponds to variant rs62636275dbSNPEnsembl.1
Natural variantiVAR_0229751107L → P in LCA8. 2 PublicationsCorresponds to variant rs62636276dbSNPEnsembl.1
Natural variantiVAR_0229761107L → R in LCA8. 1 PublicationCorresponds to variant rs62636276dbSNPEnsembl.1
Natural variantiVAR_0671521161Y → C in LCA8. 1 Publication1
Natural variantiVAR_0671531174C → G in LCA8 and RP12. 1 Publication1
Natural variantiVAR_0229771205G → R in LCA8. 1 PublicationCorresponds to variant rs574742644dbSNPEnsembl.1
Natural variantiVAR_0229781218C → F in LCA8. 1 Publication1
Natural variantiVAR_0229791317N → H in LCA8. 1 PublicationCorresponds to variant rs62636281dbSNPEnsembl.1
Natural variantiVAR_0229801321C → S in LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium. 2 PublicationsCorresponds to variant rs62635649dbSNPEnsembl.1
Natural variantiVAR_0671571332C → F in LCA8. 1 PublicationCorresponds to variant rs377543137dbSNPEnsembl.1
Natural variantiVAR_0671591381P → L in LCA8. 1 Publication1
Pigmented paravenous chorioretinal atrophy (PPCRA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUnusual 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.
See also OMIM:172870
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022942162V → M in PPCRA. 1 PublicationCorresponds to variant rs137853138dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNETi23418.
MalaCardsiCRB1.
MIMi172870. phenotype.
268000. phenotype.
600105. phenotype.
613835. phenotype.
OpenTargetsiENSG00000134376.
Orphaneti65. Leber congenital amaurosis.
251295. Pigmented paravenous retinochoroidal atrophy.
791. Retinitis pigmentosa.
PharmGKBiPA26863.

Polymorphism and mutation databases

BioMutaiCRB1.
DMDMi71153499.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000750026 – 1406Protein crumbs homolog 1Add BLAST1381

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi30N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi34 ↔ 45By similarity
Disulfide bondi39 ↔ 54By similarity
Glycosylationi41N-linked (GlcNAc...)Sequence analysis1
Glycosylationi42N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi215N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi228 ↔ 239By similarity
Disulfide bondi233 ↔ 248By similarity
Disulfide bondi250 ↔ 259By similarity
Disulfide bondi266 ↔ 277By similarity
Disulfide bondi271 ↔ 286By similarity
Glycosylationi287N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi288 ↔ 298By similarity
Disulfide bondi305 ↔ 316By similarity
Disulfide bondi310 ↔ 325By similarity
Glycosylationi313N-linked (GlcNAc...)Sequence analysis1
Glycosylationi322N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi327 ↔ 336By similarity
Disulfide bondi343 ↔ 354By similarity
Disulfide bondi348 ↔ 383By similarity
Disulfide bondi385 ↔ 394By similarity
Disulfide bondi401 ↔ 412By similarity
Disulfide bondi406 ↔ 421By similarity
Glycosylationi418N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi423 ↔ 438By similarity
Glycosylationi427N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi445 ↔ 456By similarity
Disulfide bondi450 ↔ 469By similarity
Glycosylationi453N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi471 ↔ 480By similarity
Glycosylationi550N-linked (GlcNAc...)Sequence analysis1
Glycosylationi561N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi642 ↔ 670By similarity
Glycosylationi657N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi676 ↔ 687By similarity
Disulfide bondi681 ↔ 696By similarity
Disulfide bondi698 ↔ 707By similarity
Glycosylationi757N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi851 ↔ 885By similarity
Glycosylationi871N-linked (GlcNAc...)Sequence analysis1
Glycosylationi880N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi891 ↔ 902By similarity
Disulfide bondi896 ↔ 911By similarity
Disulfide bondi913 ↔ 922By similarity
Disulfide bondi928 ↔ 939By similarity
Disulfide bondi933 ↔ 948By similarity
Glycosylationi968N-linked (GlcNAc...)Sequence analysis1
Glycosylationi975N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1000N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1096 ↔ 1137By similarity
Disulfide bondi1143 ↔ 1154By similarity
Disulfide bondi1148 ↔ 1163By similarity
Disulfide bondi1165 ↔ 1174By similarity
Disulfide bondi1181 ↔ 1191By similarity
Disulfide bondi1186 ↔ 1200By similarity
Glycosylationi1190N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1202 ↔ 1211By similarity
Disulfide bondi1218 ↔ 1229By similarity
Disulfide bondi1223 ↔ 1238By similarity
Disulfide bondi1240 ↔ 1249By similarity
Glycosylationi1243N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1259 ↔ 1274By similarity
Glycosylationi1265N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1268 ↔ 1283By similarity
Glycosylationi1273N-linked (GlcNAc...)Sequence analysis1
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

MaxQBiP82279.
PaxDbiP82279.
PeptideAtlasiP82279.
PRIDEiP82279.

PTM databases

iPTMnetiP82279.
PhosphoSitePlusiP82279.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000134376.
CleanExiHS_CRB1.
ExpressionAtlasiP82279. baseline and differential.
GenevisibleiP82279. HS.

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 interactors.
IntActiP82279. 3 interactors.
MINTiMINT-1774304.
STRINGi9606.ENSP00000356370.

Structurei

Secondary structure

11406
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni1394 – 1396Combined sources3
Beta strandi1403 – 1406Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UU5X-ray1.23B1390-1406[»]
ProteinModelPortaliP82279.
SMRiP82279.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 68EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini70 – 108EGF-like 2PROSITE-ProRule annotationAdd BLAST39
Domaini110 – 146EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini148 – 184EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini186 – 222EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini224 – 260EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini262 – 299EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini301 – 337EGF-like 8PROSITE-ProRule annotationAdd BLAST37
Domaini339 – 395EGF-like 9PROSITE-ProRule annotationAdd BLAST57
Domaini397 – 439EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini441 – 481EGF-like 11PROSITE-ProRule annotationAdd BLAST41
Domaini485 – 670Laminin G-like 1PROSITE-ProRule annotationAdd BLAST186
Domaini672 – 708EGF-like 12PROSITE-ProRule annotationAdd BLAST37
Domaini714 – 885Laminin G-like 2PROSITE-ProRule annotationAdd BLAST172
Domaini887 – 923EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini924 – 960EGF-like 14PROSITE-ProRule annotationAdd BLAST37
Domaini950 – 1137Laminin G-like 3PROSITE-ProRule annotationAdd BLAST188
Domaini1139 – 1175EGF-like 15PROSITE-ProRule annotationAdd BLAST37
Domaini1177 – 1212EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini1214 – 1250EGF-like 17PROSITE-ProRule annotationAdd BLAST37
Domaini1255 – 1295EGF-like 18PROSITE-ProRule annotationAdd BLAST41
Domaini1297 – 1333EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST37

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

eggNOGiENOG410IR70. Eukaryota.
ENOG411193Y. LUCA.
GeneTreeiENSGT00810000125346.
HOVERGENiHBG080001.
InParanoidiP82279.
KOiK16681.
OMAiCEDSVDN.
OrthoDBiEOG091G00H8.
PhylomeDBiP82279.
TreeFamiTF316224.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
InterProiIPR013320. ConA-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR001791. Laminin_G.
[Graphical view]
PfamiPF00008. EGF. 13 hits.
PF12661. hEGF. 3 hits.
PF02210. Laminin_G_2. 3 hits.
[Graphical view]
SMARTiSM00181. EGF. 18 hits.
SM00179. EGF_CA. 16 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. AlignAdd to basket

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

        10         20         30         40         50
MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK
60 70 80 90 100
DNDCSCSDTA NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP
110 120 130 140 150
GYSGTICETT IGSCGKNSCQ HGGICHQDPI YPVCICPAGY AGRFCEIDHD
160 170 180 190 200
ECASSPCQNG AVCQDGIDGY SCFCVPGYQG RHCDLEVDEC ASDPCKNEAT
210 220 230 240 250
CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ DALGAYFCDC
260 270 280 290 300
APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET
310 320 330 340 350
LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS
360 370 380 390 400
NGECVELSSE KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE
410 420 430 440 450
CSSNPCQNGG TCENLPGNYT CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC
460 470 480 490 500
LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC EIATTLSFEG DGFLWVKSGS
510 520 530 540 550
VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG YIHLSIQVNN
560 570 580 590 600
QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE
610 620 630 640 650
SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW
660 670 680 690 700
NHITLENISS GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR
710 720 730 740 750
PYEGPNCLRE YVAGRFGQDD STGYVIFTLD ESYGDTISLS MFVRTLQPSG
760 770 780 790 800
LLLALENSTY QYIRVWLERG RLAMLTPNSP KLVVKFVLND GNVHLISLKI
810 820 830 840 850
KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE TELNGGFFKG
860 870 880 890 900
CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG
910 920 930 940 950
VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA
960 970 980 990 1000
NAVFNGQSGQ ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN
1010 1020 1030 1040 1050
ISIQDSRLFF QLQSGNSFYM LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR
1060 1070 1080 1090 1100
WQMEVDNETP FVTSTIATGS LNFLKDNTDI YVGDRAIDNI KGLQGCLSTI
1110 1120 1130 1140 1150
EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL NVCNSNPCLH
1160 1170 1180 1190 1200
GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC
1210 1220 1230 1240 1250
TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGYSCLC FGNFTGKFCR
1260 1270 1280 1290 1300
QSRLPSTVCG NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE
1310 1320 1330 1340 1350
CASDPCVNGG LCQDLLNKFQ CLCDVAFAGE RCEVDLADDL ISDIFTTIGS
1360 1370 1380 1390 1400
VTVALLLILL LAIVASVVTS NKRATQGTYS PSRQEKEGSR VEMWNLMPPP

AMERLI
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.

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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.
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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.
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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.

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

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06418027C → F in RP12. 1 Publication1
Natural variantiVAR_06712545C → W in RP12. 1 PublicationCorresponds to variant rs145141811dbSNPEnsembl.1
Natural variantiVAR_022941144F → V in LCA8. 1 PublicationCorresponds to variant rs62636262dbSNPEnsembl.1
Natural variantiVAR_067126157C → S in RP12. 1 Publication1
Natural variantiVAR_011641161A → V in RP12. 1 PublicationCorresponds to variant rs62635651dbSNPEnsembl.1
Natural variantiVAR_022942162V → M in PPCRA. 1 PublicationCorresponds to variant rs137853138dbSNPEnsembl.1
Natural variantiVAR_067127165 – 167Missing in RP12. 3
Natural variantiVAR_022943195C → F in RP12. 1 PublicationCorresponds to variant rs764256655dbSNPEnsembl.1
Natural variantiVAR_022944205I → T Found in patients with Leber congenital amaurosis; unknown pathological significance. 3 PublicationsCorresponds to variant rs62645749dbSNPEnsembl.1
Natural variantiVAR_067128222E → K.1 PublicationCorresponds to variant rs114846212dbSNPEnsembl.1
Natural variantiVAR_011642250C → W in RP12. 2 PublicationsCorresponds to variant rs62635652dbSNPEnsembl.1
Natural variantiVAR_022945289T → M Rare variant found in patients with retinal dystrophy; does not segregate with the disease in a family; unlikely to be pathogenic. 5 PublicationsCorresponds to variant rs62636263dbSNPEnsembl.1
Natural variantiVAR_067129310C → Y Probable disease-associated mutation found in patients with early-onset retinal dystrophy. 1 PublicationCorresponds to variant rs779835125dbSNPEnsembl.1
Natural variantiVAR_067130312N → K in RP12. 1 Publication1
Natural variantiVAR_067131333G → D in LCA8. 1 PublicationCorresponds to variant rs587783015dbSNPEnsembl.1
Natural variantiVAR_022946383C → Y in LCA8. 1 PublicationCorresponds to variant rs62645754dbSNPEnsembl.1
Natural variantiVAR_022947433Y → C in RP12. 1 PublicationCorresponds to variant rs62636288dbSNPEnsembl.1
Natural variantiVAR_067132438C → Y in LCA8. 1 Publication1
Natural variantiVAR_067133454G → R in LCA8. 1 Publication1
Natural variantiVAR_022948480C → G in LCA8. 1 Publication1
Natural variantiVAR_022949480C → R in LCA8. 2 PublicationsCorresponds to variant rs62636264dbSNPEnsembl.1
Natural variantiVAR_067134488F → S.1 PublicationCorresponds to variant rs777377174dbSNPEnsembl.1
Natural variantiVAR_067135491D → V Found in a patient with early-onset retinal dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_068363534K → N in RP12. 1 Publication1
Natural variantiVAR_067136535L → P in LCA8. 1 PublicationCorresponds to variant rs113082791dbSNPEnsembl.1
Natural variantiVAR_067137564D → Y in LCA8. 1 Publication1
Natural variantiVAR_022950578V → E in RP12. 1 Publication1
Natural variantiVAR_022951584D → Y in LCA8. 2 Publications1
Natural variantiVAR_022952587C → Y in RP12. 1 Publication1
Natural variantiVAR_067138635S → P Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 Publication1
Natural variantiVAR_067139675W → C in RP12. 1 Publication1
Natural variantiVAR_022953679Q → E.1 PublicationCorresponds to variant rs62636286dbSNPEnsembl.1
Natural variantiVAR_022954681C → Y in LCA8. 2 PublicationsCorresponds to variant rs62636266dbSNPEnsembl.1
Natural variantiVAR_022955710E → Q in LCA8. 1 PublicationCorresponds to variant rs62645755dbSNPEnsembl.1
Natural variantiVAR_067140710E → V in RP12. 2 PublicationsCorresponds to variant rs145282040dbSNPEnsembl.1
Natural variantiVAR_067141740S → F in RP12. 1 Publication1
Natural variantiVAR_022956741M → T in LCA8; also found in patients with early-onset rod-cone retinal dystrophy. 4 PublicationsCorresponds to variant rs62636267dbSNPEnsembl.1
Natural variantiVAR_011643745T → M in RP12 and LCA8. 8 PublicationsCorresponds to variant rs28939720dbSNPEnsembl.1
Natural variantiVAR_022957749Missing in RP12 and LCA8. 2 Publications1
Natural variantiVAR_067142753L → P in LCA8. 2 Publications1
Natural variantiVAR_011644764R → C in RP12 and LCA8. 10 PublicationsCorresponds to variant rs62635654dbSNPEnsembl.1
Natural variantiVAR_022958769R → H.3 PublicationsCorresponds to variant rs62636287dbSNPEnsembl.1
Natural variantiVAR_022959769R → Q.1 Publication