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SH3GL1 Gene

protein-coding   GIFtS: 63

GC19M004311
SH3-domain GRB2-like 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CNSA1 1, 2, 3
EEN 1, 2, 3, 5
Endophilin-2 3
MGC111371 1, 2
SH3D2B 1, 2, 3
SH3P8 1, 2
Descriptions
EEN fusion partner of MLL 3
Extra eleven-nineteen leukemia fusion gene protein 3
SH3 domain GRB2-like 1 2
SH3 domain protein 2B 3
SH3 domain-containing GRB2-like protein 1 3
SH3-containing Grb-2-like 1 protein 2
SH3-containing protein EEN 2
SH3-domain GRB2-like 1 2
extra 11-19 leukemia fusion 2
fusion partner of MLL 2
External Ids
HGNC: 108301
Entrez Gene: 64552
UniProtKB: Q999613
Ensembl: ENSG000001419857
Search outside databases for aliases for SH3GL1 gene

Previous GC identifers: GC19M004452 GC19M004300

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the SH3GL1 gene  

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)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M004311:     (about GC identifiers)

Start:
4,311,367 bp from pter
End:
4,351,496 bp from pter
Size:
40,130 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011255.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

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
Subcellular location: Cytoplasm (By similarity). Early endosome membrane; Peripheral membrane
protein (By similarity). Note=Associated with postsynaptic endosomes in hippocampal neurons (By
similarity)
Secondary accessions: Q99668

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_003016.1  

    ENSEMBL proteins: 
    ENSP00000269886 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (pan Endophilin, SH3 containing Grb 2 like 1 protein)
    Human Recombinant Proteins from Abnova (SH3GL1)
                  OriGene Purified Recombinant Human Protein: SH3GL1 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005768 endosome IEA--
    GO:0016020 membrane IEA--
    GO:0031901 early endosome membrane IEA--
    About this table

    Antibodies for SH3GL1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for SH3GL1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (pan Endophilin, SH3 containing Grb 2 like 1 protein), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (SH3GL1)
    Novus Biologicals Antibodies for SH3GL1

    Assays for SH3GL1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR000108 Neu_cyt_fact_2
     IPR001452 SH3_domain
     IPR004148 BAR


       GeneDecks  SH3GL1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q99961

    ProtoNet protein and cluster: Q99961

    1 Blocks protein family: 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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SH3GL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SH3GL1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003025

                  Applied Biosystems Silencer® siRNAs for SH3GL1

                  Sigma-Aldrich siRNA for SH3GL1  
                         Sigma-Aldrich shRNA for SH3GL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for SH3GL1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_003025
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_003025
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_003025 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_003025

    UniProtKB/Swiss-Prot: 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

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI16169070
    GO:0008289 lipid binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  SH3GL1 


    5/10 Interacting proteins for SH3GL1 (Q999611, 2 ENSP000002698863) via UniProtKB, MINT, and/or STRING (see all 10 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3KBP1Q96B972, ENSP000003690493MINT-18019 MINT-18017 MINT-18018 STRING (score=.88)
    DPPA4Q7L1901EBI-697911, EBI-710457
    PDCD6IPENSP000003073873STRING (score=.969)
    PRR5ENSP000003375603STRING (score=.966)
    DNM1ENSP000003620143STRING (score=.961)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006897 endocytosis IEA--
    GO:0007165 signal transduction TAS9169142
    GO:0007417 central nervous system development TAS9169142
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for SH3GL1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (SH3GL1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (SH3GL1)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_003025

                  Sigma-Aldrich siRNA for SH3GL1  
                         Sigma-Aldrich shRNA for SH3GL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_003025  

    REFSEQ mRNAs for SH3GL1 gene: 

    NM_003025.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_003025  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_003025
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_003025
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_003025 

    Additional cDNA sequence: 

    AK097616.1 AK299166.1 AK315450.1 AY364240.1 BC000089.2 BC001094.2 BC001270.1 BC014387.2 
    BC098565.1 CR542087.1 CR591966.1 CR592875.1 CR593755.1 CR597141.1 CR602738.1 CR613203.1 
    CR618121.1 CR622297.1 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.100825116  DT.100825117  DT.121469746  DT.92450437  DT.95368598  DT.97776717 

    24/431 AceView cDNA sequences (see all 431 ):

    BQ927755 BQ058123 NM_003025 BQ954686 CR593755 BQ232981 AI357771 BG030676 
    BQ068252 BG748247 CR602738 CR622297 AU125067 AW591078 BQ642070 BU628211 
    BC014387 BM678851 BX339719 AA296899 BM802335 BQ070669 BU508518 CR592875 

    highest scoring ESTs for SH3GL1:

    X99656 AK097616 AL529468 BC001270 BE300361 BI752462 BI767439 BI824373 BQ070669 BQ695166 

    Unigene Cluster for SH3GL1:

    SH3-domain GRB2-like 1
    Hs.97616  [show with all ESTs]
    Unigene Representative Sequence: BC098565


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for SH3GL1

    1 Ensembl transcript including schematic representation:
    ENST00000269886  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    SH3GL1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for SH3GL1

    1 / 2 / 3

    3 probe-sets matching SH3GL1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    39159_at2, 3 U95-A 2 1.00 0.91 1.00 1.00 X99656 1.00 1.00 1.00 1

    201851_at2, 3 U133-A 2 1.00 0.91 -- -- NM_003025 0.60 1.00 0.82 1

    201851_at2 U133Plus2 2 1.00 0.91 -- -- -- -- -- -- --
    GeneDecks  SH3GL1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: AGGGGCGCAG

    SOURCE GeneReport for Unigene cluster: Hs.97616

    Expression variation in blood from EXPOLDB for SH3GL1

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for SH3GL1 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    SH3GL11   -- SH3-domain GRB2-like 1 89.55(n)
    95.2(a)
    485039  XM_863414.1  XP_868507.1 
    chimpanzee
    (Pan troglodytes)
    SH3GL11   -- SH3-domain GRB2-like 1 88.14(n)
    84.18(a)
    738129  XM_001138821.1  XP_001138821.1 
    cow
    (Bos taurus)
    SH3GL11   -- SH3-domain GRB2-like 1 91.85(n)
    97.01(a)
    512719  NM_001046130.1  NP_001039595.1 
    mouse
    (Mus musculus)
    Sh3gl11, 5 17 (35.00 cM)5
    SH3-domain GRB2-like 11, 5 87.95(n)1
    94.02(a)1
    204051  NM_013664.21  NP_038692.11 
     AK1548365  AK1627155  (see all 13)
    chicken
    (Gallus gallus)
    SH3GL11   -- SH3-domain GRB2-like 1 83.11(n)
    91.55(a)
    395202  NM_204529.1  NP_989860.1 
    About this table        Species with no ortholog for SH3GL1

    ENSEMBL Gene Tree for SH3GL1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for SH3GL1 gene
    SH3GL32  SH3GL22  

    Pseudogenes
    3 related pseudogenes


    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/185 NCBI SNPs in SH3GL1 are shown (see all 185 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 64)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    --
    rs113221,2
    A,F4311627(+) ATGTCG/AGGGCT 1 -- ut31 ese31Minor allele frequency- A:0.02MN 184
    --
    rs2432611,2
    A,C,F4313691(+) GGCTTG/CGGCTT 1 P/P syn13Minor allele frequency- C:0.16MN NA 444
    rs2434041,2
    A,C,F,H,O4335674(-) AGAGTC/TTCCAA 1 -- int121Minor allele frequency- T:0.34NA EA MN EU WA 2165
    rs732341,2
    A,C,F,H,O4345310(+) CTAGCC/GGCATT 1 -- int115Minor allele frequency- G:0.42NA EA MN EU WA 2942
    rs22472051,2
    C,F,H,O4342485(-) AGTTCG/AGCTAA 1 -- int17Minor allele frequency- A:0.32EA EU WA 2082
    rs110850731,2
    A,C,F,H4326162(+) GGTGCG/AAGGCT 1 -- int14Minor allele frequency- A:0.10EU EA WA 416
    rs1072881,2
    A,C,F,H4316397(+) GCACAC/TGCAGG 1 -- int17Minor allele frequency- T:0.27EA EU WA 1534
    rs110850741,2
    A,C,F,H4337352(+) GGGCAA/GAGTCC 1 -- int112Minor allele frequency- G:0.14EA NA EU WA 986
    rs18829301,2
    C,H,O4330805(+) AGCACG/ACCGCT 1 -- int111Minor allele frequency- A:0.02NA EA MN EU WA 1110
    rs72572091,2
    C,F,H4323656(+) CAACAC/TCTGGG 1 -- int14Minor allele frequency- T:0.03EU EA WA 418
    About this table

    HapMap Linkage Disequilibrium images for SH3GL1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601768   disorders: 601626  

    UniProtKB/Swiss-Prot: SH3G1_HUMAN, Q99961

  • In some cases of acute leukemia, a translocation results in the formation of a MLL-EEN
    fusion gene
  • 1 Novoseek disease relationship for SH3GL1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemogenesis 76.29 5 16990610 (2), 14551139 (1), 15077184 (1)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/24 PubMed articles for SH3GL1 gene (see all 24 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 6455 HGNC: 10830 AceView: SH3GL1 Ensembl:ENSG00000141985 euGenes: HUgn6455
    ECgene: SH3GL1 H-InvDB: SH3GL1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for SH3GL1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for SH3GL1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for SH3GL1 Antibodies for SH3GL1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for SH3GL1 Browse small molecules at Sigma-Aldrich
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     Recombinant Proteins
    (pan Endophilin, SH3 containing Grb 2 like 1 protein)
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for SH3GL1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for SH3GL1

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