• Gene id: 6455

Gene Summary

• Gene Symbol: SH3GL1   Gene   UCSC   Ensembl
• Aliases: CNSA1, EEN, SH3D2B, SH3P8
• Gene name: SH3 domain containing GRB2 like 1, endophilin A2
• Alternate names: endophilin-A2, EEN fusion partner of MLL, SH3 domain protein 2B, SH3 domain-containing GRB2-like protein 1, SH3-containing Grb-2-like 1 protein, SH3-domain GRB2-like 1, endophilin-2, extra 11-19 leukemia fusion, extra eleven-nineteen leukemia fusion gene protein,
• Gene location: 19p13.3 (4400546: 4360368)     Exons: 12     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and
• OMIM: 618740

Protein Summary

• Protein general information: Q99961  
  • Name: Endophilin A2 (EEN fusion partner of MLL) (Endophilin 2) (Extra eleven nineteen leukemia fusion gene protein) (EEN) (SH3 domain protein 2B) (SH3 domain containing GRB2 like protein 1)
  • Length: 368  
  • Mass: 41490
  • Tissue specificity: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus.
• Sequence:

  MSVAGLKKQFYKASQLVSEKVGGAEGTKLDDDFKEMEKKVDVTSKAVTEVLARTIEYLQPNPASRAKLTMLNTVS
  KIRGQVKNPGYPQSEGLLGECMIRHGKELGGESNFGDALLDAGESMKRLAEVKDSLDIEVKQNFIDPLQNLCEKD
  LKEIQHHLKKLEGRRLDFDYKKKRQGKIPDEELRQALEKFEESKEVAETSMHNLLETDIEQVSQLSALVDAQLDY
  HRQAVQILDELAEKLKRRMREASSRPKREYKPKPREPFDLGEPEQSNGGFPCTTAPKIAASSSFRSSDKPIRTPS
  RSMPPLDQPSCKALYDFEPENDGELGFHEGDVITLTNQIDENWYEGMLDGQSGFFPLSYVEVLVPLPQ

• Structural information:
  • Protein Domains: (18..24-)
    (/note="BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00361-)
    (306..36-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR027267  IPR004148  IPR028501  IPR035824  IPR036028   IPR001452  
  • Prosite: PS51021 PS50002
  • CDD: cd11803
  • DIP: 29452
  • STRING: ENSP00000269886
• Other Databases: GeneCards:  SH3GL1  Malacards:  SH3GL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016191	synaptic vesicle uncoating	IEA	biological process
GO:1900244	positive regulation of synaptic vesicle endocytosis	IEA	biological process
GO:0099092	postsynaptic density, intracellular component	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0044325	ion channel binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:1900242	regulation of synaptic vesicle endocytosis	IEA	biological process
GO:0098815	modulation of excitatory postsynaptic potential	IEA	biological process
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0051020	GTPase binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0031697	beta-1 adrenergic receptor binding	IEA	molecular function
GO:0019902	phosphatase binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0002102	podosome	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0098793	presynapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Malignant glioma	PMID:23050879
Malignant glioma	PMID:23050879
Cryptorchidism	MIK: 28606200

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