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P82279

- CRUM1_HUMAN

UniProt

P82279 - CRUM1_HUMAN

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Protein

Protein crumbs homolog 1

Gene
CRB1
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
Complete GO annotation...

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.1 Publication
Isoform 2 : Secreted 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini26 – 13471322Extracellular Reviewed predictionAdd
BLAST
Transmembranei1348 – 136821Helical; Reviewed predictionAdd
BLAST
Topological domaini1369 – 140638Cytoplasmic Reviewed predictionAdd
BLAST

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
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) [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.14 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.17 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 – 2525 Reviewed predictionAdd
BLAST
Chaini26 – 14061381Protein crumbs homolog 1PRO_0000007500Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

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

Sequence similaritiesi

Belongs to the Crumbs protein family.
Contains 19 EGF-like domains.

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.

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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
VAR_022964
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 varianti905 – 9051R → Q.1 Publication
Corresponds to variant rs114052315 [ dbSNP | Ensembl ].
VAR_022967
Natural varianti937 – 9371A → T Found in a patient with Leber congenital amaurosis; unknown pathological significance. 1 Publication
VAR_067146
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