Human Gene SH3GL1 (ENST00000269886.7_7) from GENCODE V47lift37
  Description: SH3 domain containing GRB2 like 1, endophilin A2, transcript variant 1 (from RefSeq NM_003025.4)
Gencode Transcript: ENST00000269886.7_7
Gencode Gene: ENSG00000141985.9_13
Transcript (Including UTRs)
   Position: hg19 chr19:4,360,367-4,400,544 Size: 40,178 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr19:4,361,597-4,400,365 Size: 38,769 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:4,360,367-4,400,544)mRNA (may differ from genome)Protein (368 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SH3G1_HUMAN
DESCRIPTION: RecName: Full=Endophilin-A2; AltName: Full=EEN fusion partner of MLL; AltName: Full=Endophilin-2; AltName: Full=Extra eleven-nineteen leukemia fusion gene protein; Short=EEN; AltName: Full=SH3 domain protein 2B; AltName: Full=SH3 domain-containing GRB2-like protein 1;
FUNCTION: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity).
SUBUNIT: Interacts with ARC (By similarity). Interacts with SYNJ1 and DNM1. Interacts with PDCD6IP.
INTERACTION: Q7L190:DPPA4; NbExp=3; IntAct=EBI-697911, EBI-710457; Q9H788:SH2D4A; NbExp=3; IntAct=EBI-697911, EBI-747035; Q99963:SH3GL3; NbExp=3; IntAct=EBI-697911, EBI-473910;
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Early endosome membrane; Peripheral membrane protein (By similarity). Note=Associated with postsynaptic endosomes in hippocampal neurons (By similarity).
TISSUE SPECIFICITY: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus.
DOMAIN: An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes (By similarity).
DISEASE: Note=In some cases of acute leukemia, a translocation results in the formation of a MLL-EEN fusion gene.
SIMILARITY: Belongs to the endophilin family.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 SH3 domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EEN.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SH3GL1
Diseases sorted by gene-association score: leukemia, acute myeloid* (10), lymphoid leukemia (9), clear cell hidradenoma (8), enamel caries (7), childhood medulloblastoma (7), eastern equine encephalitis (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 66.96 RPKM in Esophagus - Mucosa
Total median expression: 1224.95 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -99.80179-0.558 Picture PostScript Text
3' UTR -494.501230-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004148 - BAR_dom
IPR000108 - p67phox
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF03114 - BAR domain
PF07653 - Variant SH3 domain
PF10455 - Bin/amphiphysin/Rvs domain for vesicular trafficking
PF14604 - Variant SH3 domain

SCOP Domains:
103657 - BAR/IMD domain-like
50044 - SH3-domain

ModBase Predicted Comparative 3D Structure on Q99961
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0008289 lipid binding
GO:0017124 SH3 domain binding
GO:0019902 phosphatase binding
GO:0031697 beta-1 adrenergic receptor binding
GO:0042802 identical protein binding
GO:0044325 ion channel binding
GO:0045296 cadherin binding
GO:0051020 GTPase binding

Biological Process:
GO:0006897 endocytosis
GO:0007165 signal transduction
GO:0007417 central nervous system development
GO:0016191 synaptic vesicle uncoating
GO:0098815 modulation of excitatory postsynaptic potential
GO:1900242 regulation of synaptic vesicle endocytosis
GO:1900244 positive regulation of synaptic vesicle endocytosis

Cellular Component:
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005829 cytosol
GO:0016020 membrane
GO:0030054 cell junction
GO:0031901 early endosome membrane
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC000089 - Homo sapiens SH3-domain GRB2-like 1, mRNA (cDNA clone IMAGE:3509447), partial cds.
BC001094 - Homo sapiens SH3-domain GRB2-like 1, mRNA (cDNA clone IMAGE:3506791), partial cds.
BC014387 - Homo sapiens SH3-domain GRB2-like 1, mRNA (cDNA clone IMAGE:3505990), partial cds.
BC001270 - Homo sapiens SH3-domain GRB2-like 1, mRNA (cDNA clone MGC:5069 IMAGE:3458016), complete cds.
BC098565 - Homo sapiens SH3-domain GRB2-like 1, mRNA (cDNA clone MGC:111371 IMAGE:30561140), complete cds.
X99656 - H.sapiens mRNA for protein containing SH3 domain, SH3GL1.
AK097616 - Homo sapiens cDNA FLJ40297 fis, clone TESTI2028891, highly similar to Mus musculus endophilin II mRNA.
JD224298 - Sequence 205322 from Patent EP1572962.
JD260948 - Sequence 241972 from Patent EP1572962.
JD312318 - Sequence 293342 from Patent EP1572962.
JD393748 - Sequence 374772 from Patent EP1572962.
JD443906 - Sequence 424930 from Patent EP1572962.
JD216207 - Sequence 197231 from Patent EP1572962.
JD156791 - Sequence 137815 from Patent EP1572962.
JD385928 - Sequence 366952 from Patent EP1572962.
JD188904 - Sequence 169928 from Patent EP1572962.
JD415144 - Sequence 396168 from Patent EP1572962.
JD460129 - Sequence 441153 from Patent EP1572962.
JD488140 - Sequence 469164 from Patent EP1572962.
JD187178 - Sequence 168202 from Patent EP1572962.
JD467021 - Sequence 448045 from Patent EP1572962.
JD476547 - Sequence 457571 from Patent EP1572962.
JD114457 - Sequence 95481 from Patent EP1572962.
JD497774 - Sequence 478798 from Patent EP1572962.
JD522622 - Sequence 503646 from Patent EP1572962.
JD549840 - Sequence 530864 from Patent EP1572962.
JD051455 - Sequence 32479 from Patent EP1572962.
AK299166 - Homo sapiens cDNA FLJ58609 complete cds, highly similar to SH3-containing GRB2-like protein 1.
JD416860 - Sequence 397884 from Patent EP1572962.
JD426654 - Sequence 407678 from Patent EP1572962.
AY364240 - Homo sapiens clone peg2122 SH3 domain GRB2-like 1 (SH3GL1) mRNA, complete cds.
JD078322 - Sequence 59346 from Patent EP1572962.
DL491515 - Novel nucleic acids.
JD422436 - Sequence 403460 from Patent EP1572962.
DL490124 - Novel nucleic acids.
JD226479 - Sequence 207503 from Patent EP1572962.
CR542087 - Homo sapiens full open reading frame cDNA clone RZPDo834C0337D for gene SH3GL1, SH3-domain GRB2-like 1; complete cds, incl. stopcodon.
U65999 - Human SH3-containing protein EEN mRNA, complete cds.
AK315450 - Homo sapiens cDNA, FLJ96508, Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), mRNA.
KJ897551 - Synthetic construct Homo sapiens clone ccsbBroadEn_06945 SH3GL1 gene, encodes complete protein.
DQ891258 - Synthetic construct clone IMAGE:100003888; FLH170495.01X; RZPDo839F1298D SH3-domain GRB2-like 1 (SH3GL1) gene, encodes complete protein.
DQ894444 - Synthetic construct Homo sapiens clone IMAGE:100008904; FLH170491.01L; RZPDo839F1297D SH3-domain GRB2-like 1 (SH3GL1) gene, encodes complete protein.
AB527297 - Synthetic construct DNA, clone: pF1KB3486, Homo sapiens SH3GL1 gene for SH3-domain GRB2-like protein 1, without stop codon, in Flexi system.
JD195736 - Sequence 176760 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q99961 (Reactome details) participates in the following event(s):

R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-182994 Assembly of EGFR complex in clathrin-coated vesicles
R-HSA-183072 EGFR non-clathrin mediated endocytosis
R-HSA-8875482 CBL recruits CIN85:endophilin to ubiquitinated MET
R-HSA-8876255 CBL recruits CIN85:endophilin complex to InlB-bound MET
R-HSA-8951490 CIN85 dissociates from EGF:p-6Y-EGFR:CBL:Beta-Pix:CDC42:GTP:CIN85
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-183002 Beta-Pix:CDC42:GTP binds CBL in EGF:p-6Y-EGFR:CBL:CIN85
R-HSA-8867044 EGFR binds EPS15, EPN1, EPS15L1
R-HSA-182986 CBL-mediated ubiquitination of CIN85
R-HSA-182990 Sprouty sequesters CBL away from active EGFR
R-HSA-8876262 EPS15 and HGS bind CBL-monoubiquitinated MET engaged with Listeria InlB
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8867041 EGFR phosphorylates EPS15
R-HSA-8867047 PTPN3 dephosphorylates EPS15
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8875490 EPS15 and HGS bind ubiquitinated MET
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-182971 EGFR downregulation
R-HSA-6807004 Negative regulation of MET activity
R-HSA-8875360 InlB-mediated entry of Listeria monocytogenes into host cell
R-HSA-199991 Membrane Trafficking
R-HSA-177929 Signaling by EGFR
R-HSA-6806834 Signaling by MET
R-HSA-8876384 Listeria monocytogenes entry into host cells
R-HSA-5653656 Vesicle-mediated transport
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-5663205 Infectious disease
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B4DRA1, CNSA1, E7EVZ4, ENST00000269886.1, ENST00000269886.2, ENST00000269886.3, ENST00000269886.4, ENST00000269886.5, ENST00000269886.6, M0QZV5, NM_003025, Q99668, Q99961, SH3D2B, SH3G1_HUMAN, uc317isr.1, uc317isr.2
UCSC ID: ENST00000269886.7_7
RefSeq Accession: NM_003025.4
Protein: Q99961 (aka SH3G1_HUMAN or SH31_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.