Pikachurin information

EGFLAM
Identifiers
Aliases	EGFLAM, AGRINL, AGRNL, PIKA, EGF like, fibronectin type III and laminin G domains, Smp_128580.1
External IDs	OMIM: 617683; MGI: 2146149; HomoloGene: 65044; GeneCards: EGFLAM; OMA:EGFLAM - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	38,465,480 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	7,427,876 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; muscle of thigh; ; tibialis anterior muscle; ; deltoid muscle; ; vastus lateralis muscle; ; tibial nerve; ; apex of heart; ; biceps brachii; ; Skeletal muscle tissue of biceps brachii; ; gonad;
	Top expressed in
	neural layer of retina; ; efferent ductule; ; spermatocyte; ; interventricular septum; ; spermatid; ; medial head of gastrocnemius muscle; ; left lung lobe; ; lumbar spinal ganglion; ; Gonadal ridge; ; vastus lateralis muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	glycosaminoglycan binding; calcium ion binding;
Cellular component	extracellular region; basement membrane; cell junction; interstitial matrix; synapse; extracellular matrix;
Biological process	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan; extracellular matrix organization; positive regulation of cell-substrate adhesion; animal organ morphogenesis; tissue development; cell migration; substrate adhesion-dependent cell spreading;
	Sources:Amigo / QuickGO
Orthologs
	133584
	268780
	ENSG00000164318
	ENSMUSG00000042961
	Q63HQ2
	Q4VBE4
	NM_182801; NM_001205301; NM_152403; NM_182798; NM_182799
	NM_001289496; NM_001289498; NM_178748
	NP_001192230; NP_689616; NP_877950; NP_877953
	NP_001276425; NP_001276427; NP_848863
	Wikidata
View/Edit Human	View/Edit Mouse

Pikachurin, also known as AGRINL (AGRINL) and EGF-like, fibronectin type-III and laminin G-like domain-containing protein (EGFLAM), is a protein that in humans is encoded by the EGFLAM gene.^[5]^[6]^[7]

Pikachurin is a dystroglycan-interacting protein which has an essential role in the precise interactions between the photoreceptor ribbon synapse and the bipolar dendrites.^[6] The binding with dystroglycan (DG) depends on several factors (glycosylation of DG, presence of divalent cations, presence of other proteins).

A non-correct binding between pikachurin and DG is associated with muscular dystrophies that often involve eye abnormalities.^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164318 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000042961 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: EGF-like".
^ ^a ^b Sato S, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T (August 2008). "Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation". Nature Neuroscience. 11 (8): 923–31. doi:10.1038/nn.2160. PMID 18641643. S2CID 5921645.
^ Gu XH, Lu Y, Ma D, Liu XS, Guo SW (October 2009). "[Model of aberrant DNA methylation patterns and its applications in epithelial ovarian cancer.]". Zhonghua Fu Chan Ke Za Zhi (in Chinese). 44 (10): 754–9. PMID 20078962.
^ Kanagawa M, Omori Y, Sato S, Kobayashi K, Miyagoe-Suzuki Y, Takeda S, Endo T, Furukawa T, Toda T (October 2010). "Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization". The Journal of Biological Chemistry. 285 (41): 31208–16. doi:10.1074/jbc.M110.116343. PMC 2951195. PMID 20682766.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164318 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000042961 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: EGF-like".

[pmid18641643-6] Sato S, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T (August 2008). "Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation". Nature Neuroscience. 11 (8): 923–31. doi:10.1038/nn.2160. PMID 18641643. S2CID 5921645.

[pmid20078962-7] Gu XH, Lu Y, Ma D, Liu XS, Guo SW (October 2009). "[Model of aberrant DNA methylation patterns and its applications in epithelial ovarian cancer.]". Zhonghua Fu Chan Ke Za Zhi (in Chinese). 44 (10): 754–9. PMID 20078962.

[Kanagawa_2010-8] Kanagawa M, Omori Y, Sato S, Kobayashi K, Miyagoe-Suzuki Y, Takeda S, Endo T, Furukawa T, Toda T (October 2010). "Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization". The Journal of Biological Chemistry. 285 (41): 31208–16. doi:10.1074/jbc.M110.116343. PMC 2951195. PMID 20682766.

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