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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SH3BP5L Gene

protein-coding   GIFtS: 46
GCID: GC01M249104

SH3-binding domain protein 5-like

  Search for SH3BP5L
in our new
 Human Malady Compendium 
Biological research products
for SH3BP5L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SH3-Binding Domain Protein 5-Like1 2
KIAA17201 3
SH3BP-5-Like1
SH3 Domain-Binding Protein 5-Like2

External Ids:    HGNC: 293601   Entrez Gene: 808512   Ensembl: ENSG000001751377   UniProtKB: Q7L8J43   

Export aliases for SH3BP5L gene to outside databases

Previous GC identifers: GC01M245316 GC01M247071


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032968.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SH3BP5L gene promoter:
         ER-alpha   Sox5   AML1a   Olf-1   Nkx5-1   C/EBPalpha   Evi-1   CREB   deltaCREB   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3BP5L promoter sequence
   Search SABiosciences Chromatin IP Primers for SH3BP5L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH3BP5L


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

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

SH3BP5L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3BP5L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M249104:  view genomic region     (about GC identifiers)

Start:
249,104,648 bp from pter      End:
249,120,832 bp from pter
Size:
16,185 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 3BP5L_HUMAN, Q7L8J4 (See protein sequence)
Recommended Name: SH3 domain-binding protein 5-like  
Size: 393 amino acids; 43499 Da
Sequence caution: Sequence=BAB21811.1; Type=Erroneous initiation;
Secondary accessions: Q96FI5 Q9BQH8 Q9C0E3

Explore the universe of human proteins at neXtProt for SH3BP5L: NX_Q7L8J4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7L8J4

  • SH3BP5L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_085148.1  
    ENSEMBL proteins: 
     ENSP00000355428   ENSP00000412203  

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    Uscn Proteins for SH3BP5L


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    Uscn ELISAs and CLIAs for SH3BP5L


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

    SH3BP5L for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007940 SH3-bd_5

    Graphical View of Domain Structure for InterPro Entry Q7L8J4

    ProtoNet protein and cluster: Q7L8J4

    1 Blocks protein family: IPB007940 SH3-binding 5

    UniProtKB/Swiss-Prot: 3BP5L_HUMAN, Q7L8J4
    Similarity: Belongs to the SH3BP5 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-3938 hsa-miR-125a-5p hsa-miR-2110 hsa-miR-3614-3p hsa-miR-29c hsa-miR-29a hsa-miR-371-5p hsa-miR-103a
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BP5L

    1 GenomeRNAi human phenotype for SH3BP5L:
     Actin fiber cells 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SH3BP5L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/15 Interacting proteins for SH3BP5L (Q7L8J42, 3 ENSP000003554284) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3, ENSP000003063304MINT-50787 I2D: score=4 STRING: ENSP00000306330
    YWHAZP631042, 3, ENSP000003095034MINT-3320030 I2D: score=1 STRING: ENSP00000309503
    NINLQ9Y2I63, ENSP000002788864I2D: score=4 STRING: ENSP00000278886
    PLEKHA5Q9HAU03, ENSP000002992754I2D: score=3 STRING: ENSP00000299275
    YWHABP319463, ENSP000003001614I2D: score=1 STRING: ENSP00000300161
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SH3BP5L
    Search CenterWatch for drugs/clinical trials and news about SH3BP5L / 3BP5L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SH3BP5L gene: 
    NM_030645.1  

    Unigene Cluster for SH3BP5L:

    SH3-binding domain protein 5-like
    Hs.298573  [show with all ESTs]
    Unigene Representative Sequence: AK125837
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484202 ENST00000366472(uc001iew.1) ENST00000475978(uc010pzp.1 uc001iev.1)
    ENST00000494837 ENST00000411742

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SH3BP5L
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SH3BP5L (see all 24):
    hsa-miR-3938 hsa-miR-125a-5p hsa-miR-2110 hsa-miR-3614-3p hsa-miR-29c hsa-miR-29a hsa-miR-371-5p hsa-miR-103a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene siRNA: SH3BP5L
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SH3BP5L
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SH3BP5L
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SH3BP5L

    Additional cDNA sequence: 

    AB051507.1 AK056345.1 AK056382.1 AK091164.1 AK125138.1 AK125837.1 AK298698.1 AK299713.1 
    AL136569.1 AY358453.1 BC010871.1 BC011962.1 BC017254.2 

    8 DOTS entries:

    DT.100693748  DT.75193328  DT.215101  DT.121331535  DT.40201699  DT.121331537  DT.95199949  DT.121331548 

    24/159 AceView cDNA sequences (see all 159):

    BG252164 BM920755 BQ188699 CO245215 BC011962 AL043516 CR624935 AA731605 
    AA490261 AK056345 BE503187 AI082297 BU839061 CR613756 CR606601 AA142979 
    AK091164 BC010871 CB217120 BC017254 BQ897661 AI806926 BQ690602 NM_030645 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP5L    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:                                                                                -                           
    SP2:                    -     -                 -     -                 -           -                           
    SP3:                                                                                                            
    SP4:              -     -     -     -     -     -     -     -     -     -     -     -     -     -               
    SP5:                          -                                                                                 


    ECgene alternative splicing isoforms for SH3BP5L

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SH3BP5L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SH3BP5L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SH3BP5L

    SOURCE GeneReport for Unigene cluster: Hs.298573
        SABiosciences Custom PCR Arrays for SH3BP5L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BP5L

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SH3BP5L gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia SH3BP5L6
    --
    71(a)
    1 ↔ 1
    2(189555979-189566042)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ627589.12   -- 77.56(n)    BJ627589.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC057413.12   -- 75.54(n)    BC057413.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta pcs1 parcas 56.05(n)
    53.47(a)
      36674  NM_137166.4  NP_611010.4 
    worm
    (Caenorhabditis elegans)
    Secernentea C03C10.46
    K03E6.76
    Protein K03E6.7
    26(a)
    24(a)
    possible ortholog
    possible ortholog
    III(4096875-4098107)
    X(1084219-1088147)


    ENSEMBL Gene Tree for SH3BP5L (if available)
    TreeFam Gene Tree for SH3BP5L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SH3BP5L gene
    SH3BP52  
    1 SIMAP similar gene for SH3BP5L using alignment to 3 protein entries:     3BP5L_HUMAN (see all proteins):
    SH3BP5

    SH3BP5L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/342 NCBI SNPs in SH3BP5L are shown (see all 342    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476113631,2
    --249104154(+) ATTCAA/TAATGT 1 -- ds50010--------
    rs120958291,2
    C,--249104158(+) ATAATG/CTAAGT 1 -- ds50012Minor allele frequency- C:0.07WA 120
    rs1422009121,2
    --249104238(+) AATCTA/GGCATC 1 -- ds50010--------
    rs731505781,2
    C,--249104303(+) CCAACC/TCTCTG 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs122392591,2
    C,F,A,H,--249104349(+) CACCCC/TGCAGG 1 -- ds500121Minor allele frequency- T:0.46NS EA NA WA CSA 2344
    rs1512236361,2
    --249104356(+) CAGGCC/GCCTTT 1 -- ds50010--------
    rs788036331,2
    C,--249104486(+) ACCCCC/GGCAAG 1 -- ds50012Minor allele frequency- G:0.04NA 122
    rs1400539791,2
    --249104611(+) TTTGCC/TCCTTT 1 -- ds50010--------
    rs1503017961,2
    --249104657(+) TTACAC/TAAACT 1 -- ut310--------
    rs1468425981,2
    --249104736(+) CCACA-/CCCT  
            
    CCCTC
    1 -- ut310--------

    HapMap Linkage Disequilibrium report for SH3BP5L (249104648 - 249120832 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SH3BP5L
         2 CNVs: 8355 8354

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

    (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

    PubMed articles for SH3BP5L gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with SH3BP5L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    4. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (2000)
    5. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (2010)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80851 HGNC: 29360 AceView: KIAA1720 Ensembl:ENSG00000175137 euGenes: HUgn80851
    ECgene: SH3BP5L H-InvDB: SH3BP5L

    (According to HUGE)
    About This Section
    HUGE: KIAA1720

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SH3BP5L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SH3BP5L gene:
    Search GeneIP for patents involving SH3BP5L

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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