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SH3RF1 Gene

protein-coding   GIFtS: 59
GCID: GC04M170015

SH3 Domain Containing Ring Finger 1

(Previous name: SH3 multiple domains 2)
(Previous symbol: SH3MD2)
  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 Containing Ring Finger 11 2     SH3 Domain-Containing RING Finger Protein 12 3
SH3MD21 2 3     SH3 Multiple Domains Protein 22 3
SH3 Multiple Domains 21 2     E3 Ubiquitin-Protein Ligase SH3RF12
Plenty Of SH3 Domains1 2     Putative E3 Ubiquitin-Protein Ligase SH3RF12
Plenty Of SH3s2 3     EC 6.3.2.-3
RING Finger Protein 1422 3     KIAA14943
POSH2 3     Protein POSH3
RNF1422 3     EC 6.3.28

External Ids:    HGNC: 176501   Entrez Gene: 576302   Ensembl: ENSG000001544477   UniProtKB: Q7Z6J03   

Export aliases for SH3RF1 gene to outside databases

Previous GC identifers: GC04M170251 GC04M165769


(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 SH3RF1 Gene:
This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in
binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an
ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act
as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional
signaling module. (provided by RefSeq, Jul 2008)

GeneCards Summary for SH3RF1 Gene:
SH3RF1 (SH3 domain containing ring finger 1) is a protein-coding gene. Diseases associated with SH3RF1 include benign paroxysmal positional nystagmus, and hiv-1. GO annotations related to this gene include MAP-kinase scaffold activity and ligase activity. An important paralog of this gene is SH3RF3.

UniProtKB/Swiss-Prot: SH3R1_HUMAN, Q7Z6J0
Function: Acts as a scaffold protein, contributes to Rac-induced signal transduction such as JNKs (MAPK8 and
MAPK9) activation and induces apoptosis. Within a signaling complex, it probably recruits protein kinases such as
MAP3K10 or MAP3K11 which are in turn activated leading to the sequential activation of MAP2K4, MAP2K7 and JNKs
(MAPK8 and MAPK9) (By similarity). May be involved in targeting of HIV-1 GAG and GAG-POL polyproteins to the
plasma membrane
Function: Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from
specific E2 ubiquitin-conjugating enzymes such as UBE2D1 or UBE2N and then transfers it to substrates. In the
absence of an external substrate, it can catalyze self-ubiquitination. Stimulates ubiquitination of potassium
channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis
Function: Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent
on it's RING domain, and hence it's E3 ligase activity

Gene Wiki entry for SH3RF1 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_000004.12  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3RF1 gene promoter:
         TBP   NF-1   NF-1/L   AP-1   Egr-1   ATF-2   Egr-4   FOXJ2 (long isoform)   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3RF1 promoter sequence
   Search Chromatin IP Primers for SH3RF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3RF1


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

Entrez Gene cytogenetic band: 4q32.3   Ensembl cytogenetic band:  4q33   HGNC cytogenetic band: 4q32.3

SH3RF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3RF1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M170015:  view genomic region     (about GC identifiers)

Start:
170,015,407 bp from pter      End:
170,192,256 bp from pter
Size:
176,850 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: SH3R1_HUMAN, Q7Z6J0 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SH3RF1  
Size: 888 amino acids; 93129 Da
Subunit: Interacts with Rac; in a GTP-dependent manner (By similarity). Interacts with MAP3K10 and MAP3K11.
Interacts with MAPK8IP; this interaction leads to the PJAC complex (POSH-JIP or SH3RF1/MAPK8IP apoptotic complex)
with a 1:1 ratio. Interacts with SIAH1. Interacts with HERP1. Probably part of a signaling complex that may
contain SH3RF1, MAPK8IP, DLK1, MAP2K4, MAP2K7, MAPK8, MAPK9, AKT1 and AKT2
Sequence caution: Sequence=AAH33203.1; Type=Frameshift; Positions=182; Sequence=AAH33203.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH53671.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the middle of the protein;
Secondary accessions: Q05BT2 Q8IW46 Q9HAM2 Q9P234
Alternative splicing: 2 isoforms:  Q7Z6J0-1   Q7Z6J0-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SH3RF1: NX_Q7Z6J0

Explore proteomics data for SH3RF1 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-304 by AKT1 and AKT2. When phosphorylated, it has reduced ability to bind Rac1
  • Subject to ubiquitination and proteasomal degradation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SH3RF1 (Q7Z6J0) (see all 19)
     LLECPVC  HIQTSPQ  RVDENWAEG  PVLISSSNP 


    See SH3RF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065921.2  
    ENSEMBL proteins: 
     ENSP00000284637   ENSP00000426418   ENSP00000427585   ENSP00000421714  

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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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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 6):
     IPR028502 POSH1
     IPR001841 Znf_RING
     IPR001452 SH3_domain
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS

    Graphical View of Domain Structure for InterPro Entry Q7Z6J0

    ProtoNet protein and cluster: Q7Z6J0

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: SH3R1_HUMAN, Q7Z6J0
    Domain: The RING finger domain is responsible of ubiquitination and proteasomal degradation
    Similarity: Belongs to the SH3RF family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 4 SH3 domains


    SH3RF1 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: SH3R1_HUMAN, Q7Z6J0
    Function: Acts as a scaffold protein, contributes to Rac-induced signal transduction such as JNKs (MAPK8 and
    MAPK9) activation and induces apoptosis. Within a signaling complex, it probably recruits protein kinases such as
    MAP3K10 or MAP3K11 which are in turn activated leading to the sequential activation of MAP2K4, MAP2K7 and JNKs
    (MAPK8 and MAPK9) (By similarity). May be involved in targeting of HIV-1 GAG and GAG-POL polyproteins to the
    plasma membrane
    Function: Might act as an E3 ubiquitin-protein ligase, or as part of E3 complex, which accepts ubiquitin from
    specific E2 ubiquitin-conjugating enzymes such as UBE2D1 or UBE2N and then transfers it to substrates. In the
    absence of an external substrate, it can catalyze self-ubiquitination. Stimulates ubiquitination of potassium
    channel KCNJ1, enhancing it's dynamin-dependent and clathrin-independent endocytosis
    Function: Plays an essential role in the targeting of HIV-1 Gag to the plasma membrane, this function is dependent
    on it's RING domain, and hence it's E3 ligase activity

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005078MAP-kinase scaffold activity ----
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0016874ligase activity IEA--
    GO:0046872metal ion binding ----
         
    SH3RF1 for ontologies           About GeneDecksing


    Animal Models:
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    miRTarBase miRNAs that target SH3RF1:
    hsa-mir-296-3p (MIRT038416), hsa-mir-128-3p (MIRT021985)

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    Selected qRT-PCR Assays for microRNAs that regulate SH3RF1 (see all 32):
    hsa-miR-128 hsa-miR-30d hsa-miR-624 hsa-miR-649 hsa-miR-1244 hsa-miR-30a hsa-miR-124 hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidSH3RF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SH3RF1

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    (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
    SH3R1_HUMAN, Q7Z6J0: Cytoplasm, perinuclear region (By similarity). Cell projection, lamellipodium. Cytoplasm.
    Golgi apparatus, trans-Golgi network. Note=Colocalizes, with AKT2, in lamellipodia (By similarity). Colocalizes,
    with HERP1, in trans-Golgi network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    golgi apparatus3
    nucleus3
    cytoskeleton1
    endosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IDA--
    GO:0030027lamellipodium IEA--
    GO:0048471perinuclear region of cytoplasm IEA--

    SH3RF1 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 SH3RF1 About    
    See pathways by source

    SuperPathContained pathways About
    1G13 Signaling Pathway
    G13 Signaling Pathway

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SH3RF1
        MAPK Signaling
    Rac1 Pathway
    JNK Pathway

    1 BioSystems Pathway for SH3RF1
        G13 Signaling Pathway


    UniProtKB/Swiss-Prot: SH3R1_HUMAN, Q7Z6J0
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SH3RF1
    Interactions:

        GeneGlobe Interaction Network for SH3RF1

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

    Selected Interacting proteins for SH3RF1 (Q7Z6J01, 3 ENSP000002846374) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAC1P630001, 3, ENSP000003484614EBI-311339,EBI-413628 I2D: score=5 STRING: ENSP00000348461
    SIAH2O432551, 3, ENSP000003224574EBI-311339,EBI-948141 I2D: score=1 STRING: ENSP00000322457
    MAP3K11Q165843, ENSP000003095974I2D: score=3 STRING: ENSP00000309597
    MAP4K3Q8IVH83, ENSP000002638814I2D: score=3 STRING: ENSP00000263881
    SEMA6AQ9H2E63, ENSP000003455124I2D: score=3 STRING: ENSP00000345512
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    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0016567protein ubiquitination IEA--
    GO:0043066negative regulation of apoptotic process IMP--
    GO:0043154negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP--
    GO:0046328regulation of JNK cascade IEA--

    SH3RF1 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
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    Browse Tocris compounds for SH3RF1 (SH3R1)

    1 HMDB Compound for SH3RF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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 SH3RF1 gene: 
    NM_020870.3  

    Unigene Cluster for SH3RF1:

    SH3 domain containing ring finger 1
    Hs.301804  [show with all ESTs]
    Unigene Representative Sequence: BC053671
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284637(uc003isa.1) ENST00000511421 ENST00000508685(uc010irc.1)
    ENST00000502315 ENST00000510806
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    hsa-miR-128 hsa-miR-30d hsa-miR-624 hsa-miR-649 hsa-miR-1244 hsa-miR-30a hsa-miR-124 hsa-miR-186
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      QuantiFast Probe-based Assays in human, mouse, rat SH3RF1

    Additional mRNA sequence: 

    AB040927.1 AK021429.1 AK025255.1 AK026726.1 BC033203.1 BC041023.1 BC053671.1 

    7 DOTS entries:

    DT.308292  DT.100748160  DT.100009539  DT.101978498  DT.75138116  DT.75195914  DT.91995916 

    Selected AceView cDNA sequences (see all 106):

    AB040927 BI224417 Z45709 BC033203 BX093287 CD672041 BI223903 BG166931 
    BX506138 BC041023 BM722487 AL601555 N46563 BM836830 AA742642 NM_020870 
    CN478827 CA429414 AK025255 AK021429 BG753534 BX477817 AI686957 CB045140 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SH3RF1 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15
    SP1:        -     -                       -                                                                                             
    SP2:                                                                          -                                                         
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for SH3RF1

    (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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    SH3RF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAATAATTT
    SH3RF1 Expression
    About this image


    SH3RF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Stomach (Gastrointestinal Tract)
    SH3RF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3RF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.301804
        Custom PCR Arrays for SH3RF1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3RF1

    (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 SH3RF1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3rf11 , 5 SH3 domain containing ring finger 11, 5 85.95(n)1
    90.73(a)1
      8 (30.94 cM)5
    590091  NM_021506.21  NP_067481.21 
     612241715 
    chicken
    (Gallus gallus)
    Aves SH3RF11 SH3 domain containing ring finger 1 76.15(n)
    80.81(a)
      422434  XM_420402.4  XP_420402.2 
    lizard
    (Anolis carolinensis)
    Reptilia SH3RF16
    SH3 domain containing ring finger 1
    79(a)
    1 ↔ 1
    GL343216.1(586186-640321)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI449829.12   -- 74.32(n)    BI449829.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sh3rf11 SH3 domain containing ring finger 1 63.83(n)
    66.71(a)
      556523  NM_001045487.2  NP_001038952.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta POSH6
    Plenty of SH3s
    31(a)
    1 → many
    2R(13456232-13459827)
    worm
    (Caenorhabditis elegans)
    Secernentea sorb-16
    Protein SORB-1, isoform a (sorb-1) mRNA, complete ...
    12(a)
    1 → many
    IV(13750336-13770607) WBGene00012891


    ENSEMBL Gene Tree for SH3RF1 (if available)
    TreeFam Gene Tree for SH3RF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3RF1 gene
    SH3RF32  SH3RF22  SORBS32  SORBS12  SORBS22  SH3D192  
    16 SIMAP similar genes for SH3RF1 using alignment to 4 protein entries:     SH3R1_HUMAN (see all proteins):
    SH3GL2    SH3GL1    GRAPL    ARHGEF7    BRCA1    SH3RF3
    RNF138    TRIM3    TRIM2    TRIM73    ITSN2    RFWD2
    RNF152    TRIM59    RNF135    SH3RF2

    SH3RF1 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)
    About This Section

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    Selected SNPs for SH3RF1 (see all 3316)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106469921,2
    H--165930403(+) acacaC/Tacaca 1 -- int10--------
    rs68111981,2
    C,F,A,H--170014982(+) CATGGG/CCCTTT 1 -- ds50014Minor allele frequency- C:0.00NS EA 418
    rs1469561071,2
    --170015066(+) TCATAC/TTATTG 1 -- ds50010--------
    rs1826840121,2
    --170015069(+) TACTAC/TTGGTT 1 -- ds50010--------
    rs1880738071,2
    --170015177(+) GACCTC/TGTGCG 1 -- ds50010--------
    rs26088511,2
    C,H--170015488(-) ATTGCA/G/TATTTA 2 -- ut3111NA WA CSA EA 375
    rs1918120971,2
    --170015573(+) GAAAAC/TCCATA 1 -- ut310--------
    rs1824831781,2
    --170015620(+) TTTAAA/CCAACT 1 -- ut310--------
    rs1875226001,2
    --170015631(+) TTATAA/CCAGGA 1 -- ut310--------
    rs1918779501,2
    --170015641(+) AAACTA/CTGAAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for SH3RF1 (170015407 - 170192256 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SH3RF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728720CNV Deletion23290073
    esv2728721CNV Deletion23290073
    esv1236515CNV Deletion17803354
    esv1943131CNV Deletion18987734
    esv2728723CNV Deletion23290073
    esv2728722CNV Deletion23290073
    nsv290567CNV Insertion16902084
    nsv4599CNV Insertion18451855
    nsv880897CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3RF1
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3RF1

    (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.)
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    3 diseases for SH3RF1:    
    About MalaCards
    benign paroxysmal positional nystagmus    hiv-1    prostatitis

    1 disease from the University of Copenhagen DISEASES database for SH3RF1:
    Benign paroxysmal positional nystagmus

    SH3RF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SH3RF1
    Human Genome Epidemiology (HuGE) Navigator: SH3RF1 (1 document)

    Export disorders for SH3RF1 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 SH3RF1 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with SH3RF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Akt2 negatively regulates assembly of the POSH-MLK-JNK signaling complex. (PubMed id 14504284)1, 2, 9 Figueroa C.... Vojtek A.B. (J. Biol. Chem. 2003)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. POSH stimulates the ubiquitination and the clathrin-independent endocytosis of ROMK1 channels. (PubMed id 19710010)1, 2 Lin D.H.... Wang W.H. (J. Biol. Chem. 2009)
    4. Regulation of the pro-apoptotic scaffolding protein POSH by Akt. (PubMed id 17535800)1, 2 Lyons T.R....Kassenbrock C.K. (J. Biol. Chem. 2007)
    5. Siah1 interacts with the scaffold protein POSH to promote JNK activation and apoptosis. (PubMed id 16230351)1, 2 Xu Z.... Greene L.A. (J. Biol. Chem. 2006)
    6. The trans-Golgi network-associated human ubiquitin-protein ligase POSH is essential for HIV type 1 production. (PubMed id 15659549)1, 2 Alroy I.... Reiss Y. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    9. A new rac target POSH is an SH3-containing scaffold protein involved in the JNK and NF-kappaB signalling pathways. (PubMed id 9482736)1, 3 Tapon N....Hall A. (EMBO J. 1998)
    10. Imputation-based association analyses identify new lung cancer susceptibility variants in CDK6 and SH3RF1 and their interactions with smoking in Chinese populations. (PubMed id 23644744)1 Deng Q....Wu T. (Carcinogenesis 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 57630 HGNC: 17650 AceView: SH3MD2 Ensembl:ENSG00000154447 euGenes: HUgn57630
    ECgene: SH3RF1 H-InvDB: SH3RF1

    (According to HUGE)
    About This Section

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    HUGE: KIAA1494

    (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 SH3RF1 Pharmacogenomics, SNPs, Pathways

    (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 SH3RF1 gene:
    Search GeneIP for patents involving SH3RF1

    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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