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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

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.

GO - Cellular componenti

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

MaxQBiP82279.
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

BgeeiP82279.
CleanExiHS_CRB1.
ExpressionAtlasiP82279. baseline and differential.
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 36-482, 673-708, 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.
GeneTreeiENSGT00760000118786.
HOVERGENiHBG080001.
InParanoidiP82279.
KOiK16681.
OMAiQSICAFQ.
OrthoDBiEOG7KH9HX.
PhylomeDBiP82279.
TreeFamiTF316224.

Family and domain databases

Gene3Di2.60.120.200. 3 hits.
InterProiIPR013320. ConA-like_dom.
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) [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 CAE45845.1 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