• Gene id: 392617

Gene Summary

• Gene Symbol: ELFN1   Gene   UCSC   Ensembl
• Aliases: PPP1R28
• Gene name: extracellular leucine rich repeat and fibronectin type III domain containing 1
• Alternate names: protein ELFN1, extracellular leucine-rich repeat and fibronectin type III containing 1, extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1, protein phosphatase 1 regulatory subunit 28,
• Gene location: 7p22.3 (1666074: 1747953)     Exons: 8     NC_000007.14
• OMIM: 610639

Protein Summary

• Protein general information: P0C7U0  
  • Name: Protein ELFN1 (Extracellular leucine rich repeat and fibronectin type III domain containing protein 1) (Protein phosphatase 1 regulatory subunit 28)
  • Length: 828  
  • Mass: 90477
• Sequence:

  MAGRGWGALWVCVAAATLLHAGGLARADCWLIEGDKGFVWLAICSQNQPPYEAIPQQINSTIVDLRLNENRIRSV
  QYASLSRFGNLTYLNLTKNEIGYIEDGAFSGQFNLQVLQLGYNRLRNLTEGMLRGLGKLEYLYLQANLIEVVMAS
  SFWECPNIVNIDLSMNRIQQLNSGTFAGLAKLSVCELYSNPFYCSCELLGFLRWLAAFTNATQTYDRMQCESPPV
  YSGYYLLGQGRRGHRSILSKLQSVCTEDSYAAEVVGPPRPASGRSQPGRSPPPPPPPEPSDMPCADDECFSGDGT
  TPLVALPTLATQAEARPLIKVKQLTQNSATITVQLPSPFHRMYTLEHFNNSKASTVSRLTKAQEEIRLTNLFTLT
  NYTYCVVSTSAGLRHNHTCLTICLPRLPSPPGPVPSPSTATHYIMTILGCLFGMVLVLGAVYYCLRRRRRQEEKH
  KKAASAAAAGSLKKTIIELKYGPELEAPGLAPLSQGPLLGPEAVTRIPYLPAAGEVEQYKLVESADTPKASKGSY
  MEVRTGDPPERRDCELGRPGPDSQSSVAEISTIAKEVDKVNQIINNCIDALKSESTSFQGVKSGPVSVAEPPLVL
  LSEPLAAKHGFLAPGYKDAFGHSLQRHHSVEAAGPPRASTSSSGSVRSPRAFRAEAVGVHKAAAAEAKYIEKGSP
  AADAILTVTPAAAVLRAEAEKGRQYGEHRHSYPGSHPAEPPAPPGPPPPPPHEGLGRKASILEPLTRPRPRDLAY
  SQLSPQYHSLSYSSSPEYTCRASQSIWERFRLSRRRHKEEEEFMAAGHALRKKVQFAKDEDLHDILDYWKGVSAQ
  HKS

• Structural information:
  • Protein Domains: (190..25-)
    (/note="LRRCT-)
    (312..39-)
    (/note="Fibronectin-type-III")
  • Interpro: IPR000483  IPR001611  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000456548
• Other Databases: GeneCards:  ELFN1  Malacards:  ELFN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0010923	negative regulation of phosphatase activity	IDA	biological process
GO:0050808	synapse organization	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0060076	excitatory synapse	ISS	cellular component
GO:0004864	protein phosphatase inhibitor activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0050808	synapse organization	IEA	biological process
GO:0060076	excitatory synapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0032515	negative regulation of phosphoprotein phosphatase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
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