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

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; AllianceGenome:HGNC:10830
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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (4360370..4400547, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (4343819..4383971, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (4360367..4400544, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2.
Title: The SH3 binding site in front of the WH1 domain contributes to the membrane binding of the BAR domain protein endophilin A2.
Endophilin A2 regulates B-cell endocytosis and is required for germinal center and humoral responses.
Title: Endophilin A2 regulates B-cell endocytosis and is required for germinal center and humoral responses.
EV71 enters Caco-2 cells mainly via an endophilin-A2-mediated endocytic pathway.
Title: Endophilin-A2-mediated endocytic pathway is critical for enterovirus 71 entry into caco-2 cells.
FBP17 and CIP4 prime the membrane of resting cells for fast endophilin-mediated endocytosis by recruiting the 5'-lipid phosphatase SHIP2 and lamellipodin to mediate the local production of phosphatidylinositol-3,4-bisphosphate and endophilin pre-enrichment.
Title: FBP17 and CIP4 recruit SHIP2 and lamellipodin to prime the plasma membrane for fast endophilin-mediated endocytosis.
Study observed elevated EA2 gene expression in the subcutaneous compared to that in the visceral human adipose tissue. EA2 gene expression negatively correlated with adiponectin and chemerin in visceral adipose tissue, and positively correlated with TNF-alpha in subcutaneous adipose tissue. EA2 gene expression was significantly downregulated during differentiation of preadipocytes in vitro.
Title: Endophilin A2: A Potential Link to Adiposity and Beyond.
Our study provides novel evidence of Endo II function in HER2+ cancer cell motility and trafficking of HER2 that relates to effective treatments with trastuzumab or T-DM1. Thus, differential expression of Endo II may relate to sensitivity or resistance to trastuzumab-based therapies for HER2+ cancers
Title: Endophilin A2 promotes HER2 internalization and sensitivity to trastuzumab-based therapy in HER2-positive breast cancers.
Expression level of SH3GL1 was widely upregulated in human OS tissues, and their overexpression was significantly correlated with more aggressive clinicopathological features.
Title: Essential role of SH3GL1 in interleukin-6(IL-6)- and vascular endothelial growth factor (VEGF)-triggered p130(cas)-mediated proliferation and migration of osteosarcoma cells.
Endophilin-A2 was identified as a novel molecule regulating macrophage-derived foam cell formation by mechanisms attributable to clathrin-mediated endocytosis and beyond clathrin-mediated endocytosis
Title: Endophilin-A2-mediated increase in scavenger receptor expression contributes to macrophage-derived foam cell formation.
inhibition of SH3GL1 reverses multidrug resistance through declining P-glycoprotein expression via the EGFR/ERK/AP-1 pathway.
Title: SH3GL1 inhibition reverses multidrug resistance in colorectal cancer cells by downregulation of MDR1/P-glycoprotein via EGFR/ERK/AP-1 pathway.
Endo II expression was highest in triple-negative breast cancers tumors compared with other subtypes, and at the level of gene expression, high Endo II was associated with reduced relapse-free survival in patients with basal-like breast cancers.
Title: Endophilin A2 Promotes TNBC Cell Invasion and Tumor Metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D19S894 (e-PCR), detects polymorphism
- UniSTS:76836

RH119795 (e-PCR)
- UniSTS:133270

STS-F10175 (e-PCR)
- UniSTS:21498

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cadherin binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in central nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in synaptic vesicle uncoating	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in podosome	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

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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

NG_028084.1 RefSeqGene

Range

5022..45199

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199943.2 → NP_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/TrEMBL

Q9UQD4

Related

ENSP00000404568.2, ENST00000417295.6

Conserved Domains (2) summary

cd11803
Location:261 → 315

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

cl12013
Location:25 → 199

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001199944.2 → NP_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/TrEMBL

Q9UQD4

Related

ENSP00000470792.1, ENST00000598564.5

Conserved Domains (2) summary

cd11803
Location:245 → 299

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A

cl12013
Location:25 → 183

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_003025.4 → NP_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

B4DRA1, E7EVZ4, M0QZV5, Q99668, Q99961

UniProtKB/TrEMBL

Q6FGM0, Q9UQD4

Related

ENSP00000269886.2, ENST00000269886.7

Conserved Domains (2) summary

cd07592
Location:25 → 247

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:309 → 363

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A