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SH3BP5L Gene

protein-coding   GIFtS: 46
GCID: GC01M249104

SH3-Binding Domain Protein 5-Like

  See related disease
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-Binding Domain Protein 5-Like1 2
SH3BP-5-like2 3
SH3 Domain-Binding Protein 5-Like2
KIAA17203

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SH3BP5L Gene:
SH3BP5L (SH3-binding domain protein 5-like) is a protein-coding gene. Diseases associated with SH3BP5L include malaria. An important paralog of this gene is SH3BP5.


(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_000001.11  NC_018912.2  NT_167186.2  
Regulatory elements:
   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 Chromatin IP Primers for SH3BP5L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, and/or Cloud-Clone Corp.)
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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

Explore proteomics data for SH3BP5L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3BP5L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_085148.1  
    ENSEMBL proteins: 
     ENSP00000355428   ENSP00000412203  

    SH3BP5L Human Recombinant Protein Products:

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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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    1 InterPro protein domain:
     IPR007940 SH3-bd_5

    Graphical View of Domain Structure for InterPro Entry Q7L8J4

    ProtoNet protein and cluster: Q7L8J4

    1 Blocks protein domain: IPB007940 SH3-binding 5

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


    SH3BP5L 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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    Phenotypes:
         1 GenomeRNAi human phenotype for SH3BP5L:
     Actin fiber cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3BP5L
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SH3BP5L

    miRNA
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    miRTarBase miRNAs that target SH3BP5L:
    hsa-mir-106a-5p (MIRT048323)

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    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat SH3BP5L

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3BP5L


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3BP5L
    Interactions:

        Search GeneGlobe Interaction Network for SH3BP5L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for SH3BP5L (Q7L8J42, 3 ENSP000003554284) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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, 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 SH3BP5L (3BP5L)



    (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,
    Conferences by KenesGroup, 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 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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    Block miRNA regulation of human, mouse, rat SH3BP5L using miScript Target Protectors
    Selected qRT-PCR 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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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3BP5L
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    OriGene qSTAR qPCR primer pairs in human, mouse for SH3BP5L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SH3BP5L
      QuantiTect SYBR Green Assays in human, mouse, rat SH3BP5L
      QuantiFast Probe-based Assays in human, mouse, rat SH3BP5L

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 159):

    CR606601 BQ065352 AA731605 AI082297 BC017254 AK056345 BE220619 BC010871 
    AL136569 BQ188699 AL043516 AB051507 AI123075 BE468070 BM920755 AI806926 
    AK091164 CR613756 BU839061 AA788591 CR624935 BC011962 BG252164 BF059499 

    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™, 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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    SH3BP5L expression in normal human tissues (normalized intensities)      SH3BP5L embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SH3BP5L Expression
    About this image


    SH3BP5L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    SH3BP5L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3BP5L Protein Expression

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

     
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    (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 SH3BP5L gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3bp5l1 , 5 SH3 binding domain protein 5 like1, 5 86.99(n)1
    94.9(a)1
      11 (36.19 cM)5
    795661  NM_001161338.11  NP_001154810.11 
     583307505 
    lizard
    (Anolis carolinensis)
    Reptilia SH3BP5L6
    SH3-binding domain protein 5-like
    70(a)
    1 ↔ 1
    2(189548776-189566042)
    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 pcs6
    parcas
    28(a)
    1 ↔ 1
    2R(10868782-10878841)
    worm
    (Caenorhabditis elegans)
    Secernentea C03C10.46
    K03E6.76
    Protein K03E6.7 (K03E6.7) mRNA, complete cds
    26(a)
    24(a)
    1 ↔ many
    1 ↔ many
    III(4096901-4098133) WBGene00007270
    X(1084222-1088148) WBGene00019365


    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)
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    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, 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 SH3BP5L (see all 365)    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,F--249104158(+) ATAATG/CTAAGT 1 -- ds50012Minor allele frequency- C:0.07WA 120
    rs1422009121,2
    C--249104238(+) AATCTA/GGCATC 1 -- ds50010--------
    rs731505781,2
    C,F--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
    C--249104356(+) CAGGCC/GCCTTT 1 -- ds50010--------
    rs788036331,2
    C,F--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
         Database of Genomic Variants (DGV) 4 variations for SH3BP5L:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2145823CNV Deletion18987734
    nsv5398CNV Insertion18451855
    esv2750835CNV Gain17911159
    esv2750832CNV Gain17911159

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3BP5L
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3BP5L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for SH3BP5L:    About MalaCards
    malaria


    SH3BP5L for disorders           About GeneDecksing


    Export disorders for SH3BP5L 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)
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    PubMed articles for SH3BP5L gene, integrated from 10 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. (Nat. Genet. 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. (Genome Res. 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. (Genome Res. 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. (DNA Res. 2000)
    5. A human MAP kinase interactome. (PubMed id 20936779)1 Bandyopadhyay S....Ideker T. (Nat. Methods 2010)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 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. (Sci. Signal. 2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    OMIM
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      (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)
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    Entrez Gene: 80851 HGNC: 29360 AceView: KIAA1720 Ensembl:ENSG00000175137 euGenes: HUgn80851
    ECgene: SH3BP5L H-InvDB: SH3BP5L

    (According to HUGE)
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    HUGE: KIAA1720

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for SH3BP5L gene:
    Search GeneIP for patents involving SH3BP5L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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