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SH3GL1 SH3 domain containing GRB2 like 1, endophilin A2 [ Homo sapiens (human) ]

Gene ID: 6455, updated on 17-Jun-2019

Summary

Official Symbol
SH3GL1provided by HGNC
Official Full Name
SH3 domain containing GRB2 like 1, endophilin A2provided by HGNC
Primary source
HGNC:HGNC:10830
See related
Ensembl:ENSG00000141985 MIM:601768
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EEN; CNSA1; SH3P8; SH3D2B
Summary
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 the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in esophagus (RPKM 47.4), placenta (RPKM 27.1) and 25 other tissues See more
Orthologs

Genomic context

See SH3GL1 in Genome Data Viewer
Location:
19p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (4360369..4400547, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (4360364..4400565, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene signal transducing adaptor family member 2 Neighboring gene MPN domain containing Neighboring gene eukaryotic translation initiation factor 1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory regions 262 and 14493 Neighboring gene Sharpr-MPRA regulatory regions 465 and 6457 Neighboring gene uncharacterized LOC107985297 Neighboring gene chromatin assembly factor 1 subunit A Neighboring gene microRNA 4746 Neighboring gene UBX domain protein 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Cargo recognition for clathrin-mediated endocytosis, organism-specific biosystemRecruitment of plasma membrane-localized cargo into clathrin-coated endocytic vesicles is mediated by interaction with a variety of clathrin-interacting proteins collectively called CLASPs (clathrin-...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • EGFR downregulation, organism-specific biosystem (from REACTOME)
    EGFR downregulation, organism-specific biosystemRegulation of receptor tyrosine kinase (RTK) activity is implicated in the control of almost all cellular functions. One of the best understood RTKs is epidermal growth factor receptor (EGFR). Growth...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • InlB-mediated entry of Listeria monocytogenes into host cell, organism-specific biosystem (from REACTOME)
    InlB-mediated entry of Listeria monocytogenes into host cell, organism-specific biosystemInlB, a cell wall protein of Listeria monocytogenes, binds MET receptor, acting as an HGF agonist (Shen et al. 2000, Veiga and Cossart 2005). Listeria monocytogenes InlB proteins dimerize through the...
  • Listeria monocytogenes entry into host cells, organism-specific biosystem (from REACTOME)
    Listeria monocytogenes entry into host cells, organism-specific biosystemListeria monocytogenes is a short, gram-positive, nonspore-forming motile rod. Serotypes 1/2a, 1/2b and 4b make up more than 95% of isolates from humans, with serotype 4b causing most of the food-bor...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Negative regulation of MET activity, organism-specific biosystem (from REACTOME)
    Negative regulation of MET activity, organism-specific biosystemSignaling by MET receptor is negatively regulated mainly by MET receptor dephosphorylation or MET receptor degradation. Protein tyrosine phosphatase PTPRJ dephosphorylates MET tyrosine residue Y1349,...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by EGFR, organism-specific biosystem (from REACTOME)
    Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
  • Signaling by MET, organism-specific biosystem (from REACTOME)
    Signaling by MET, organism-specific biosystemMET is a receptor tyrosine kinase (RTK) (Cooper et al. 1984, Park et al. 1984) activated by binding to its ligand, Hepatocyte growth factor/Scatter factor (HGF/SF) (Bottaro et al. 1991, Naldini et al...
  • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by focal adhesion kinase, organism-specific biosystem
    Signaling events mediated by focal adhesion kinase
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC111371

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase binding IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
beta-1 adrenergic receptor binding IEA
Inferred from Electronic Annotation
more info
 
cadherin binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IEA
Inferred from Electronic Annotation
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
phosphatase binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
modulation of excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle uncoating IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density, intracellular component IEA
Inferred from Electronic Annotation
more info
 
presynapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
endophilin-A2
Names
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

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028084.1 RefSeqGene

    Range
    5001..45202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199943.2NP_001186872.1  endophilin-A2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK299166, BU838380, CK820395, X99656
    Consensus CDS
    CCDS56076.1
    UniProtKB/Swiss-Prot
    Q99961
    Related
    ENSP00000404568.2, ENST00000417295.6
    Conserved Domains (2) summary
    cd11803
    Location:261315
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
    cl12013
    Location:25199
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001199944.2NP_001186873.1  endophilin-A2 isoform 3

    See identical proteins and their annotated locations for NP_001186873.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the coding region but maintains the reading frame, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AC007292, AC011498, AK097616, CK820395
    Consensus CDS
    CCDS59335.1
    UniProtKB/Swiss-Prot
    Q99961
    Related
    ENSP00000470792.1, ENST00000598564.5
    Conserved Domains (2) summary
    cd11803
    Location:245299
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
    cl12013
    Location:25183
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_003025.4NP_003016.1  endophilin-A2 isoform 1

    See identical proteins and their annotated locations for NP_003016.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC007292, BC001270, BU838380
    Consensus CDS
    CCDS32874.1
    UniProtKB/Swiss-Prot
    Q99961
    UniProtKB/TrEMBL
    Q6FGM0
    Related
    ENSP00000269886.2, ENST00000269886.7
    Conserved Domains (2) summary
    cd07592
    Location:25247
    BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
    cd11803
    Location:309363
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    4360369..4400547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528183.2XP_011526485.1  endophilin-A2 isoform X2

    Conserved Domains (2) summary
    cd07592
    Location:1212
    BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A
    cd11803
    Location:274328
    SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
  2. XM_017027146.1XP_016882635.1  endophilin-A2 isoform X1

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