• Gene id: 133584

Gene Summary

• Gene Symbol: EGFLAM   Gene   UCSC   Ensembl
• Aliases: AGRINL, AGRNL, PIKA
• Gene name: EGF like, fibronectin type III and laminin G domains
• Alternate names: pikachurin, EGF-like, fibronectin type-III and laminin G-like domain-containing protein, agrin-like protein,
• Gene location: 5p13.2-p13.1 (38258558: 38465479)     Exons: 24     NC_000005.10
• OMIM: 601919

Protein Summary

• Protein general information: Q63HQ2  
  • Name: Pikachurin (Agrin like protein) (EGF like, fibronectin type III and laminin G like domain containing protein)
  • Length: 1017  
  • Mass: 111271
• Sequence:

  MDLIRGVLLRLLLLASSLGPGAVSLRAAIRKPGKVGPPLDIKLGALNCTAFSIQWKMPRHPGSPILGYTVFYSEV
  GADKSLQEQLHSVPLSRDIPTTEEVIGDLKPGTEYRVSIAAYSQAGKGRLSSPRHVTTLSQDSCLPPAAPQQPHV
  IVVSDSEVALSWKPGASEGSAPIQYYSVEFIRPDFDKKWTSIHERIQMDSMVIKGLDPDTNYQFAVRAMNSHGPS
  PRSWPSDIIRTLCPEEAGSGRYGPRYITDMGAGEDDEGFEDDLDLDISFEEVKPLPATKGGNKKFLVESKKMSIS
  NPKTISRLIPPTSASLPVTTVAPQPIPIQRKGKNGVAIMSRLFDMPCDETLCSADSFCVNDYTWGGSRCQCTLGK
  GGESCSEDIVIQYPQFFGHSYVTFEPLKNSYQAFQITLEFRAEAEDGLLLYCGENEHGRGDFMSLAIIRRSLQFR
  FNCGTGVAIIVSETKIKLGGWHTVMLYRDGLNGLLQLNNGTPVTGQSQGQYSKITFRTPLYLGGAPSAYWLVRAT
  GTNRGFQGCVQSLAVNGRRIDMRPWPLGKALSGADVGECSSGICDEASCIHGGTCTAIKADSYICLCPLGFKGRH
  CEDAFTLTIPQFRESLRSYAATPWPLEPQHYLSFMEFEITFRPDSGDGVLLYSYDTGSKDFLSINLAGGHVEFRF
  DCGSGTGVLRSEDPLTLGNWHELRVSRTAKNGILQVDKQKIVEGMAEGGFTQIKCNTDIFIGGVPNYDDVKKNSG
  VLKPFSGSIQKIILNDRTIHVKHDFTSGVNVENAAHPCVRAPCAHGGSCRPRKEGYDCDCPLGFEGLHCQKECGN
  YCLNTIIEAIEIPQFIGRSYLTYDNPDILKRVSGSRSNVFMRFKTTAKDGLLLWRGDSPMRPNSDFISLGLRDGA
  LVFSYNLGSGVASIMVNGSFNDGRWHRVKAVRDGQSGKITVDDYGARTGKSPGMMRQLNINGALYVGGMKEIALH
  TNRQYMRGLVGCISHFTLSTDYHISLVEDAVDGKNINTCGAK

• Structural information:
  • Protein Domains: (37..13-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (144..23-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (343..38-)
    (/note="EGF-like-1)
    (/evidence="ECO:-)
  • Interpro: IPR013320  IPR001881  IPR013032  IPR000742  IPR003961   IPR036116  IPR013783  IPR001791  
  • Prosite: PS00022 PS01186 PS50026 PS50853 PS50025
  • CDD: cd00063
  • STRING: ENSP00000346964
• Other Databases: GeneCards:  EGFLAM  Malacards:  EGFLAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005604	basement membrane	IBA	cellular component
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0016358	dendrite development	IBA	biological process
GO:0008045	motor neuron axon guidance	IBA	biological process
GO:0009888	tissue development	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0019800	peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan	IEA	biological process
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005614	interstitial matrix	IEA	cellular component
GO:0005539	glycosaminoglycan binding	IEA	molecular function
GO:0043083	synaptic cleft	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray