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SH3GL1 Gene

protein-coding   GIFtS: 62
GCID: GC19M004360

SH3-Domain GRB2-Like 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SH3-Domain GRB2-Like 11 2     SH3 Domain-Containing GRB2-Like Protein 12 3
EEN2 3 5     Fusion Partner Of MLL1
Extra 11-19 Leukemia Fusion1 2     SH3 Domain GRB2-Like 11
SH3-Containing Grb-2-Like 1 Protein1 2     SH3-Containing Protein EEN1
Extra Eleven-Nineteen Leukemia Fusion Gene Protein2 3     SH3P82
CNSA12 3     endophilin-22
SH3D2B2 3     endophilin-A22
EEN Fusion Partner Of MLL2 3     Endophilin-23
SH3 Domain Protein 2B2 3     

External Ids:    HGNC: 108301   Entrez Gene: 64552   Ensembl: ENSG000001419857   OMIM: 6017685   UniProtKB: Q999613   

Export aliases for SH3GL1 gene to outside databases

Previous GC identifers: GC19M004452 GC19M004300 GC19M004311 GC19M004122


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SH3GL1 Gene:
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)

GeneCards Summary for SH3GL1 Gene:
SH3GL1 (SH3-domain GRB2-like 1) is a protein-coding gene. Diseases associated with SH3GL1 include clear cell hidradenoma, and lymphoid leukemia. GO annotations related to this gene include phosphatase binding and identical protein binding. An important paralog of this gene is SH3GL3.

UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961
Function: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity)

Gene Wiki entry for SH3GL1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3GL1 gene promoter:
         AP-1   AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3GL1 promoter sequence
   Search Chromatin IP Primers for SH3GL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3GL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

SH3GL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3GL1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M004360:  view genomic region     (about GC identifiers)

Start:
4,360,364 bp from pter      End:
4,400,565 bp from pter
Size:
40,202 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961 (See protein sequence)
Recommended Name: Endophilin-A2  
Size: 368 amino acids; 41490 Da
Subunit: Interacts with ARC (By similarity). Interacts with SYNJ1 and DNM1. Interacts with PDCD6IP. Interacts with
BIN2
Secondary accessions: B4DRA1 E7EVZ4 M0QZV5 Q99668
Alternative splicing: 3 isoforms:  Q99961-1   Q99961-2   Q99961-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3GL1: NX_Q99961

Explore proteomics data for SH3GL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys239
  • Modification sites at PhosphoSitePlus

  • See SH3GL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186872.1  NP_001186873.1  NP_003016.1  

    ENSEMBL proteins: 
     ENSP00000269886   ENSP00000470792   ENSP00000404568   ENSP00000471260   ENSP00000469766  
     ENSP00000472640  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR027267 AH/BAR-dom
     IPR001452 SH3_domain
     IPR004148 BAR_dom

    Graphical View of Domain Structure for InterPro Entry Q99961

    ProtoNet protein and cluster: Q99961

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961
    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)
    Similarity: Belongs to the endophilin family
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 SH3 domain


    SH3GL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SH3G1_HUMAN, Q99961
    Function: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity)

         Genatlas biochemistry entry for SH3GL1:
    Src-homology 3 domain GRB2-like gene 1,ubiquitously expressed

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16115810
    GO:0008289lipid binding IEA--
    GO:0019902phosphatase binding IEA--
    GO:0042802identical protein binding IPI16115810
    GO:0051020GTPase binding IEA--
         
    SH3GL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SH3GL1:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sh3gl1):
     behavior/neurological  growth/size/body  mortality/aging  nervous system  normal 
     respiratory system 

    SH3GL1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sh3gl1tm1Pdc for SH3GL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3GL1
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    miRNA
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    miRTarBase miRNAs that target SH3GL1:
    hsa-mir-744-5p (MIRT037699), hsa-mir-877-5p (MIRT037377), hsa-mir-296-3p (MIRT038486), hsa-mir-30a-5p (MIRT028595), hsa-mir-320b (MIRT036218), hsa-mir-193b-3p (MIRT041509), hsa-mir-320a (MIRT044698)

    Block miRNA regulation of human, mouse, rat SH3GL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SH3GL1 (see all 14):
    hsa-miR-4311 hsa-miR-206 hsa-miR-3673 hsa-miR-429 hsa-miR-4255 hsa-miR-1 hsa-miR-218 hsa-miR-374c
    SwitchGear 3'UTR luciferase reporter plasmidSH3GL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SH3GL1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GL1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SH3G1_HUMAN, Q99961: Cytoplasm (By similarity). Early endosome membrane; Peripheral membrane protein (By
    similarity). Cell projection, podosome. Note=Associated with postsynaptic endosomes in hippocampal neurons (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    endosome5
    cytosol3
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002102podosome IEA--
    GO:0005737cytoplasm IDA--
    GO:0030054cell junction IEA--
    GO:0031901early endosome membrane IEA--
    GO:0042995cell projection IEA--

    SH3GL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SH3GL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling events mediated by focal adhesion kinase
    Signaling events mediated by focal adhesion kinase
    2Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SH3GL1
        Signaling events mediated by focal adhesion kinase


    1 Kegg Pathway  (Kegg details for SH3GL1):
        Endocytosis


    SH3GL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3GL1
    Interactions:

        GeneGlobe Interaction Network for SH3GL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SH3GL1 (Q999611, 2, 3 ENSP000002698864) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DPPA4Q7L1901, 2, 3, ENSP000003353064EBI-697911,EBI-710457 MINT-8270330 I2D: score=6 STRING: ENSP00000335306
    SYNJ1O434262, 3, ENSP000003222344MINT-8096061 MINT-8096099 MINT-8096027 I2D: score=3 STRING: ENSP00000322234
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-18019 MINT-18017 MINT-18018 I2D: score=2 STRING: ENSP00000380921
    SH2D4AQ9H7881, 3, ENSP000002658074EBI-697911,EBI-747035 I2D: score=4 STRING: ENSP00000265807
    DPYSL4O145312, 3, ENSP000003398504MINT-8270341 I2D: score=2 STRING: ENSP00000339850
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897endocytosis IEA--
    GO:0007165signal transduction TAS9169142
    GO:0007417central nervous system development TAS9169142

    SH3GL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SH3GL1 (SH3G1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SH3GL1 gene (3 alternative transcripts): 
    NM_001199943.1  NM_001199944.1  NM_003025.3  

    Unigene Cluster for SH3GL1:

    SH3-domain GRB2-like 1
    Hs.97616  [show with all ESTs]
    Unigene Representative Sequence: NM_003025
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269886(uc002mak.3 uc002maj.3 uc010xig.2) ENST00000598564
    ENST00000417295 ENST00000593591 ENST00000598230 ENST00000598219
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SH3GL1 (see all 14):
    hsa-miR-4311 hsa-miR-206 hsa-miR-3673 hsa-miR-429 hsa-miR-4255 hsa-miR-1 hsa-miR-218 hsa-miR-374c
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    Additional mRNA sequence: 

    AK097616.1 AK299166.1 AK315450.1 AY364240.1 BC000089.2 BC001094.2 BC001270.1 BC014387.2 
    BC098565.1 CR542087.1 U65999.1 X99656.1 

    15 DOTS entries:

    DT.454463  DT.100840804  DT.100832273  DT.121469726  DT.100038384  DT.100711751  DT.100825112  DT.100825122 
    DT.100825102  DT.100825117  DT.121469746  DT.92450437  DT.95368598  DT.97776717  DT.100825116 

    Selected AceView cDNA sequences (see all 431):

    BM757269 AI199609 BX399000 BQ058123 BM802335 BE885443 CB133042 BU517319 
    AA296899 BQ954686 AU125067 BX375014 BC001094 BM772949 BI767439 BQ642070 
    CR593755 CF131232 U65999 BQ068252 CD370859 CA388750 CR618121 CR591966 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for SH3GL1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                          -     -                                       
    SP2:                                                                        


    ECgene alternative splicing isoforms for SH3GL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SH3GL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGGCGCAG
    SH3GL1 Expression
    About this image

    SH3GL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3GL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.97616

    UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961
    Tissue specificity: Ubiquitous. Higher expression in pancreas, placenta, prostate, testis and uterus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3GL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SH3GL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3gl11 , 5 SH3-domain GRB2-like 11, 5 88.04(n)1
    94.02(a)1
      17 (29.11 cM)5
    204051  NM_013664.31  NP_038692.11 
     560167535 
    chicken
    (Gallus gallus)
    Aves SH3GL11 SH3-domain GRB2-like 1 83.2(n)
    91.55(a)
      395202  NM_204529.1  NP_989860.1 
    lizard
    (Anolis carolinensis)
    Reptilia SH3GL16
    SH3-domain GRB2-like 1
    89(a)
    1 ↔ 1
    AAWZ02037346(4648-17157)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.41752 Xenopus laevis transcribed sequence with moderate similarity more 74.66(n)    BX847835.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.210432 Danio rerio mRNA similar to SH3-domain GRB2-like 1 more 78.04(n)    BC045942.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta endoA3 synaptic vesicle endocytosis
    lysophosphatidic more
    48(a)   91D4   --
    worm
    (Caenorhabditis elegans)
    Secernentea T04D1.33   -- 50(a)   I(4675134-4676809)   --


    ENSEMBL Gene Tree for SH3GL1 (if available)
    TreeFam Gene Tree for SH3GL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3GL1 gene
    SH3GL32  SH3GLB12  SH3GL22  SH3GLB22  
    Selected SIMAP similar genes for SH3GL1 using alignment to 7 protein entries:     SH3G1_HUMAN (see all proteins) (see all similar genes):
    SH3GL3    SH3GL2    DKFZp686B23205    ABI-2    ABI2    SGSM3
    SNX18    SH3D19    SH3RF1    ARHGEF5    DKFZp686N08224    PACSIN1
    SORBS1    GRB2    ABI1    SH3KBP1    ARHGEF6    HCLS1

    SH3GL1 for paralogs           About GeneDecksing


    5 Pseudogenes.org Pseudogenes for SH3GL1
    PGOHUM00000242897 PGOHUM00000237166 PGOHUM00000237347 PGOHUM00000237358 PGOHUM00000262602


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SH3GL1 (see all 1189)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs777829941,2
    C,F--4122425(+) CCCTCG/ATTTCA 3 -- ds50011Minor allele frequency- A:0.04EA 120
    rs1159215611,2
    C,F--4122688(+) CAGGGC/TATTAA 3 -- ds50011Minor allele frequency- T:0.02WA 118
    rs3682000751,2
    C--4122772(+) GGCTCA/GGAGCA 3 -- ds50010--------
    rs81107811,2
    C,F--4122808(+) GGGGTG/TTGTGT 3 -- ds50011Minor allele frequency- T:0.08WA 118
    rs1399936721,2
    --4122831(+) GGCCCC/TTCAGG 3 -- ds50010--------
    rs1498618571,2
    C--4122847(+) GGTGGA/GTGGCA 3 -- ds50010--------
    rs1814586961,2
    --4122862(+) CACCCC/TTGCAC 3 -- ds50010--------
    rs1861062541,2
    C--4122873(+) CAAGAC/TGAGGC 3 -- ds50010--------
    rs772054291,2
    C,F--4122945(+) TTTGCC/TCTGGA 3 -- ut311Minor allele frequency- T:0.05EA 120
    rs1458634171,2
    --4123049(+) GGCTTC/TACTGG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SH3GL1 (4360364 - 4400565 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SH3GL1 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718012CNV Deletion23290073
    esv2718013CNV Deletion23290073
    nsv910827CNV Loss21882294
    dgv3675n71CNV Loss21882294
    dgv3674n71CNV Loss21882294
    nsv833717CNV Loss17160897
    nsv833718CNV Loss17160897
    nsv910817CNV Loss21882294
    nsv833720CNV Loss17160897
    nsv833719CNV Loss17160897

    Human Gene Mutation Database (HGMD): SH3GL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3GL1
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3GL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 601768   
    OMIM disorders: 601626  
    UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961
  • Note=In some cases of acute leukemia, a translocation results in the formation of a KMT2A/MLL1-EEN fusion
    gene

  • 11 diseases for SH3GL1:    
    About MalaCards
    clear cell hidradenoma    lymphoid leukemia    hidradenoma    leukemia
    acute myeloid leukemia    myeloid leukemia    acute leukemia    multiple myeloma
    myeloma    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SH3GL1:
    Leukemia

    SH3GL1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for SH3GL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 75.7 5 16990610 (2), 14551139 (1), 15077184 (1)


    Export disorders for SH3GL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for SH3GL1 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with SH3GL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel SH3-containing human gene family preferentially expressed in the central nervous system. (PubMed id 9169142)1, 2, 3 Giachino C....Migone N. (Genomics 1997)
    2. EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia. (PubMed id 9122235)1, 2, 9 So C.W.... Chan L.C. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The SH3 domains of endophilin and amphiphysin bind to the proline- rich region of synaptojanin 1 at distinct sites that display an unconventional binding specificity. (PubMed id 10542231)1, 2 Cestra G.... Cesareni G. (J. Biol. Chem. 1999)
    6. Aberrant transcriptional regulation of the MLL fusion partner EEN by AML1-ETO and its implication in leukemogenesis. (PubMed id 16990610)1, 9 Ma L.H....Chen S.J. (Blood 2007)
    7. Functional contribution of EEN to leukemogenic transformation by MLL-EEN fusion protein. (PubMed id 15077184)1, 9 Liu H....Chen S.J. (Oncogene 2004)
    8. Activation of EGF receptor endocytosis and ERK1/2 signaling by BPGAP1 requires direct interaction with EEN/endophilin II and a functional RhoGAP domain. (PubMed id 15944398)1, 9 Lua B.L. and Low B.C. (J. Cell. Sci. 2005)
    9. Identification and characterization of EBP, a novel EEN binding protein that inhibits Ras signaling and is recruited into the nucleus by the MLL-EEN fusion protein. (PubMed id 14551139)1, 9 Yam J.W.... Chan L.C. (Blood 2004)
    10. miR-218 is downregulated and directly targets SH3GL1 in childhood medulloblastoma. (PubMed id 23970061)1 Shi J....Niu H. (Mol Med Rep 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 6455 HGNC: 10830 AceView: SH3GL1 Ensembl:ENSG00000141985 euGenes: HUgn6455
    ECgene: SH3GL1 Kegg: 6455 H-InvDB: SH3GL1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SH3GL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SH3GL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SH3GL1 gene:
    Search GeneIP for patents involving SH3GL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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