Q63HQ2 · EGFLA_HUMAN
- ProteinPikachurin
- GeneEGFLAM
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1017 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglycan and GPR179 on the postsynaptic membrane. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | basement membrane | |
Cellular Component | cell projection | |
Cellular Component | interstitial matrix | |
Cellular Component | photoreceptor ribbon synapse | |
Cellular Component | presynaptic active zone | |
Cellular Component | synaptic cleft | |
Molecular Function | calcium ion binding | |
Molecular Function | glycosaminoglycan binding | |
Biological Process | extracellular matrix organization | |
Biological Process | positive regulation of cell-substrate adhesion |
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended namePikachurin
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ63HQ2
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Detected in the synaptic cleft of the ribbon synapse around the postsynaptic terminals of bipolar cells. Colocalizes with BSN, CTBP2 and DAG1 in photoreceptor synaptic terminals.
Keywords
- Cellular component
Disease & Variants
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_055718 | 26 | in dbSNP:rs12522205 | |||
Sequence: R → P | ||||||
Natural variant | VAR_035302 | 111 | in dbSNP:rs2561111 | |||
Sequence: R → H | ||||||
Natural variant | VAR_035303 | 229 | in dbSNP:rs1465567 | |||
Sequence: W → R | ||||||
Natural variant | VAR_035304 | 473 | in dbSNP:rs16903965 | |||
Sequence: T → M | ||||||
Natural variant | VAR_035305 | 576 | in dbSNP:rs6897179 | |||
Sequence: H → N | ||||||
Natural variant | VAR_055719 | 745 | in dbSNP:rs2561818 | |||
Sequence: V → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,332 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, glycosylation, disulfide bond.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-24 | |||||
Sequence: MDLIRGVLLRLLLLASSLGPGAVS | ||||||
Chain | PRO_0000306803 | 25-1017 | Pikachurin | |||
Sequence: LRAAIRKPGKVGPPLDIKLGALNCTAFSIQWKMPRHPGSPILGYTVFYSEVGADKSLQEQLHSVPLSRDIPTTEEVIGDLKPGTEYRVSIAAYSQAGKGRLSSPRHVTTLSQDSCLPPAAPQQPHVIVVSDSEVALSWKPGASEGSAPIQYYSVEFIRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPSPRSWPSDIIRTLCPEEAGSGRYGPRYITDMGAGEDDEGFEDDLDLDISFEEVKPLPATKGGNKKFLVESKKMSISNPKTISRLIPPTSASLPVTTVAPQPIPIQRKGKNGVAIMSRLFDMPCDETLCSADSFCVNDYTWGGSRCQCTLGKGGESCSEDIVIQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAEDGLLLYCGENEHGRGDFMSLAIIRRSLQFRFNCGTGVAIIVSETKIKLGGWHTVMLYRDGLNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRATGTNRGFQGCVQSLAVNGRRIDMRPWPLGKALSGADVGECSSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRHCEDAFTLTIPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKDFLSINLAGGHVEFRFDCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGMAEGGFTQIKCNTDIFIGGVPNYDDVKKNSGVLKPFSGSIQKIILNDRTIHVKHDFTSGVNVENAAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQKECGNYCLNTIIEAIEIPQFIGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGALVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNINGALYVGGMKEIALHTNRQYMRGLVGCISHFTLSTDYHISLVEDAVDGKNINTCGAK | ||||||
Glycosylation | 47 | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | ||||||
Disulfide bond | 347↔358 | |||||
Sequence: CDETLCSADSFC | ||||||
Disulfide bond | 352↔369 | |||||
Sequence: CSADSFCVNDYTWGGSRC | ||||||
Disulfide bond | 371↔380 | |||||
Sequence: CTLGKGGESC | ||||||
Disulfide bond | 534↔564 | |||||
Sequence: CVQSLAVNGRRIDMRPWPLGKALSGADVGEC | ||||||
Disulfide bond | 569↔580 | |||||
Sequence: CDEASCIHGGTC | ||||||
Disulfide bond | 574↔590 | |||||
Sequence: CIHGGTCTAIKADSYIC | ||||||
Disulfide bond | 592↔601 | |||||
Sequence: CPLGFKGRHC | ||||||
Disulfide bond | 788↔799 | |||||
Sequence: CVRAPCAHGGSC | ||||||
Disulfide bond | 793↔808 | |||||
Sequence: CAHGGSCRPRKEGYDC | ||||||
Disulfide bond | 810↔819 | |||||
Sequence: CPLGFEGLHC | ||||||
Disulfide bond | 987↔1014 | |||||
Sequence: CISHFTLSTDYHISLVEDAVDGKNINTC |
Post-translational modification
O-glycosylated; contains chondroitin sulfate and heparan sulfate.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with DAG1 alpha-dystroglycan. Interacts with GPR158 and GPR179; transsynaptic interaction is required for synaptic organization of photoreceptor cells.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q63HQ2 | GPR179 Q6PRD1 | 3 | EBI-21327031, EBI-20895185 |
Protein-protein interaction databases
Miscellaneous
Family & Domains
Features
Showing features for domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 37-136 | Fibronectin type-III 1 | ||||
Sequence: PPLDIKLGALNCTAFSIQWKMPRHPGSPILGYTVFYSEVGADKSLQEQLHSVPLSRDIPTTEEVIGDLKPGTEYRVSIAAYSQAGKGRLSSPRHVTTLSQ | ||||||
Domain | 144-239 | Fibronectin type-III 2 | ||||
Sequence: APQQPHVIVVSDSEVALSWKPGASEGSAPIQYYSVEFIRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPSPRSWPSDIIRTLCP | ||||||
Domain | 343-381 | EGF-like 1 | ||||
Sequence: FDMPCDETLCSADSFCVNDYTWGGSRCQCTLGKGGESCS | ||||||
Domain | 386-564 | Laminin G-like 1 | ||||
Sequence: IQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAEDGLLLYCGENEHGRGDFMSLAIIRRSLQFRFNCGTGVAIIVSETKIKLGGWHTVMLYRDGLNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRATGTNRGFQGCVQSLAVNGRRIDMRPWPLGKALSGADVGEC | ||||||
Domain | 565-602 | EGF-like 2 | ||||
Sequence: SSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRHCE | ||||||
Domain | 609-788 | Laminin G-like 2 | ||||
Sequence: IPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKDFLSINLAGGHVEFRFDCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGMAEGGFTQIKCNTDIFIGGVPNYDDVKKNSGVLKPFSGSIQKIILNDRTIHVKHDFTSGVNVENAAHPC | ||||||
Domain | 784-820 | EGF-like 3 | ||||
Sequence: AAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQ | ||||||
Domain | 835-1014 | Laminin G-like 3 | ||||
Sequence: IEIPQFIGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGALVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNINGALYVGGMKEIALHTNRQYMRGLVGCISHFTLSTDYHISLVEDAVDGKNINTC |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 5 isoforms produced by Alternative splicing.
Q63HQ2-1
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.
- Name1
- Length1,017
- Mass (Da)111,271
- Last updated2007-10-02 v2
- ChecksumAF251212507A57EB
Q63HQ2-2
- Name2
- Differences from canonical
- 822-830: ECGNYCLNT → A
Q63HQ2-3
- Name3
Q63HQ2-4
- Name4
Q63HQ2-5
- Name5
- Differences from canonical
- 1-865: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_028477 | 1-234 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_028476 | 1-634 | in isoform 3 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_028475 | 1-865 | in isoform 5 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_028478 | 235-238 | in isoform 4 | |||
Sequence: RTLC → MHPG | ||||||
Sequence conflict | 546 | in Ref. 2; CAH56137 | ||||
Sequence: D → G | ||||||
Sequence conflict | 602 | in Ref. 2; CAH56137 | ||||
Sequence: E → G | ||||||
Sequence conflict | 641 | in Ref. 1; BAF84291 | ||||
Sequence: F → L | ||||||
Sequence conflict | 775 | in Ref. 2; CAH56137 | ||||
Sequence: F → L | ||||||
Alternative sequence | VSP_028481 | 822-830 | in isoform 2, isoform 3 and isoform 4 | |||
Sequence: ECGNYCLNT → A | ||||||
Sequence conflict | 1005 | in Ref. 5; AAH33177 | ||||
Sequence: A → S |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AK092479 EMBL· GenBank· DDBJ | BAC03900.1 EMBL· GenBank· DDBJ | mRNA | ||
AK092994 EMBL· GenBank· DDBJ | BAC04013.1 EMBL· GenBank· DDBJ | mRNA | ||
AK096474 EMBL· GenBank· DDBJ | BAC04800.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AK097549 EMBL· GenBank· DDBJ | BAC05096.1 EMBL· GenBank· DDBJ | mRNA | ||
AK291602 EMBL· GenBank· DDBJ | BAF84291.1 EMBL· GenBank· DDBJ | mRNA | ||
BX647551 EMBL· GenBank· DDBJ | CAH56137.1 EMBL· GenBank· DDBJ | mRNA | ||
AC010338 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC010457 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC091839 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471119 EMBL· GenBank· DDBJ | EAW55968.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC031251 EMBL· GenBank· DDBJ | AAH31251.1 EMBL· GenBank· DDBJ | mRNA | ||
BC033177 EMBL· GenBank· DDBJ | AAH33177.1 EMBL· GenBank· DDBJ | mRNA | ||
BC033188 EMBL· GenBank· DDBJ | AAH33188.1 EMBL· GenBank· DDBJ | mRNA | ||
BC063822 EMBL· GenBank· DDBJ | AAH63822.1 EMBL· GenBank· DDBJ | mRNA |