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

SASH1 Gene

protein-coding   GIFtS: 49
GCID: GC06P148593

SAM and SH3 domain containing 1

 Explore 4 diseases affiliated with
SASH1 via our new
 Human Malady Compendium 
Biological research products
for SASH1
    

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

Aliases
SAM And SH3 Domain Containing 11 2     2500002E12Rik2
KIAA07901 3 5     DJ323M41
SH3D6A1 2     SAM And SH3 Domain-Containing Protein 12
DJ323M4.11     PEPE13
Proline-Glutamate Repeat-Containing Protein2 3     

External Ids:    HGNC: 191821   Entrez Gene: 233282   Ensembl: ENSG000001119617   OMIM: 6079555   UniProtKB: O948853   

Export aliases for SASH1 gene to outside databases

Previous GC identifers: GC06P148598 GC06P148644 GC06P148705 GC06P148635 GC06P146228


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

UniProtKB/Swiss-Prot: SASH1_HUMAN, O94885
Function: May have a role in a signaling pathway. Could act as a tumor suppressor

Gene Wiki entry for SASH1


(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_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SASH1 gene promoter:
         Sox5   Pax-5   POU6F1 (c2)   GATA-1   SRY   FOXO4   HFH-1   Sox9   LyF-1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): SASH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SASH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SASH1


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

Entrez Gene cytogenetic band: 6q24.3   Ensembl cytogenetic band:  6q24.3   HGNC cytogenetic band: 6q24.3

SASH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SASH1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P148593:  view genomic region     (about GC identifiers)

Start:
148,593,440 bp from pter      End:
148,873,186 bp from pter
Size:
279,747 bases      Orientation:
plus 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: SASH1_HUMAN, O94885 (See protein sequence)
Recommended Name: SAM and SH3 domain-containing protein 1  
Size: 1247 amino acids; 136653 Da
Sequence caution: Sequence=BAA34510.1; Type=Erroneous initiation; Sequence=BAB14909.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for SASH1:
2DL0 (3D)        2EBP (3D)    
Secondary accessions: Q5TGN5 Q8TAI0 Q9H7R7

Explore the universe of human proteins at neXtProt for SASH1: NX_O94885

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O94885

  • SASH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056093.3  
    ENSEMBL proteins: 
     ENSP00000356439   ENSP00000356437  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SASH1


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

    SASH1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR011511 SH3_2
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021090 rSAM/SH3_domain-containing
     IPR011510 SAM_2

    Graphical View of Domain Structure for InterPro Entry O94885

    ProtoNet protein and cluster: O94885

    4 Blocks protein families:
    IPB001452 SH3 domain signature
    IPB001660 Sterile alpha motif SAM
    IPB011510 Sterile alpha motif homology 2
    IPB011511 Variant SH3


    UniProtKB/Swiss-Prot: SASH1_HUMAN, O94885
    Similarity: Contains 2 SAM (sterile alpha motif) domains
    Similarity: Contains 1 SH3 domain


    (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

    Function Summary:

         UniProtKB/Swiss-Prot: SASH1_HUMAN, O94885
    Function: May have a role in a signaling pathway. Could act as a tumor suppressor

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    (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 SASH1

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

    5/58 Interacting proteins for SASH1 (O948852, 3 ENSP000003564374) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED28Q9H2042, 3, ENSP000002373804MINT-7041865 I2D: score=1 STRING: ENSP00000237380
    SFNP319472, 3MINT-3975603 I2D: score=2 
    SKILP127572, 3MINT-61657 I2D: score=2 
    SUV39H2Q9H5I13, ENSP000003192084I2D: score=1 STRING: ENSP00000319208
    NCK1P163333, ENSP000002889864I2D: score=2 STRING: ENSP00000288986
    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 SASH1
    Search CenterWatch for drugs/clinical trials and news about SASH1 

    (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 SASH1 gene: 
    NM_015278.3  

    Unigene Cluster for SASH1:

    SAM and SH3 domain containing 1
    Hs.193133  [show with all ESTs]
    Unigene Representative Sequence: NM_015278
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367469 ENST00000367467(uc003qme.1 uc011eeb.1 uc003qmf.1)
    ENST00000470750

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    8/99 QIAGEN miScript miRNA Assays for microRNAs that regulate SASH1 (see all 99):
    hsa-miR-520e hsa-miR-106a hsa-miR-128 hsa-miR-578 hsa-miR-3653 hsa-miR-3138 hsa-miR-519a hsa-miR-890
    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: SASH1
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SASH1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SASH1

    Additional cDNA sequence: 

    AB018333.1 AJ507735.1 AK023607.1 AK024403.1 AK025495.1 AK074249.1 AK300403.1 AY927559.1 
    BC028303.1 BC063279.1 BX537611.1 

    18 DOTS entries:

    DT.447951  DT.100688139  DT.65287089  DT.91742298  DT.121308460  DT.95283771  DT.99938094  DT.121308362 
    DT.121308424  DT.121308458  DT.306790  DT.86838347  DT.99953156  DT.99995684  DT.105371  DT.121308378 
    DT.91724092  DT.91899828 

    24/243 AceView cDNA sequences (see all 243):

    AK023607 BF063496 AI915644 AI420072 AI381832 Z39303 AL120922 BC063279 
    AI193496 AA482652 N41469 BF061342 AI625446 AA663123 BM672572 CA412755 
    AW236502 AI499827 BM713041 AJ507735 BU947541 BM720526 AA971414 NM_015278 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SASH1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d · 14e · 14f ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a ·
    SP1:                          -                             -     -     -     -                                         -     -           -                 -   
    SP2:                                                                                                                                      -           -     -   
    SP3:                                      -     -           -     -     -     -                                                                                 
    SP4:                                                              -     -     -                                                                                 
    SP5:                                                                    -     -                                                                                 

    ExUns: 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b
    SP1:                                      -                     
    SP2:                                      -                     
    SP3:                                                            
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for SASH1

    (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

    SASH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGTACTGT

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

    About this image
    See SASH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SASH1

    SOURCE GeneReport for Unigene cluster: Hs.193133

    UniProtKB/Swiss-Prot: SASH1_HUMAN, O94885
    Tissue specificity: Expressed ubiquitously, with highest levels in lung, placenta, spleen and thymus. Down-regulated in
    the majority (74%) of breast tumors in comparison with corresponding normal breast epithelial tissues

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SASH1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SASH11 SAM and SH3 domain containing 1 73.87(n)
    76.8(a)
      421621  XM_419659.3  XP_419659.3 
    lizard
    (Anolis carolinensis)
    Reptilia SASH16
    --
    69(a)
    1 ↔ 1
    1(208686696-208778498)
    zebrafish
    (Danio rerio)
    Actinopterygii iktdsubc_2e12 iktdsubc_2e1 73.84(n)   337791  57065286 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343776
    SKIP6
    Shal K[+] channel interacting protein
    8(a)
    13(a)
    many ↔ many
    many ↔ many
    3R(18135203-18149816)
    3R(17959557-18121848)


    ENSEMBL Gene Tree for SASH1 (if available)
    TreeFam Gene Tree for SASH1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SASH1 gene
    SASH32  SAMSN12  
    3 SIMAP similar genes for SASH1 using alignment to 4 protein entries:     SASH1_HUMAN (see all proteins):
    DKFZp686I1750    SAMSN1    SASH3

    SASH1 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

    10/4170 NCBI SNPs in SASH1 are shown (see all 4170    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2004950511,2
    --148661757(+) CAATT-/AAAAAA 1 -- us2k10--------
    rs1173189621,2
    --148661814(+) GAGCAC/TGAGGG 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs1181084971,2
    F,--148661889(+) CTGACT/CCATAG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1116313731,2
    --148661928(+) GCCTCG/AATGCT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1818461361,2
    --148661929(+) CCTCAA/GTGCTA 1 -- us2k10--------
    rs350739401,2
    C,F,--148662145(+) GTGTGC/GCTGTA 1 -- us2k11Minor allele frequency- G:0.23EA 120
    rs1862820381,2
    --148662215(+) GCAGTA/GAGCTA 1 -- us2k10--------
    rs1908366531,2
    --148662222(+) GCTACA/GATTGC 1 -- us2k10--------
    rs1450150741,2
    --148662235(+) ACTGC-/AACTGC 1 -- us2k10--------
    rs1397695411,2
    --148662438(+) CAACAC/GTCTTG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SASH1 (148593440 - 148843440 bp, first 250kb of SASH1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SASH1
         2 CNVs: 4510 69613

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SASH1
    DNA2.0 Custom Variant and Variant Library Synthesis for SASH1

    (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

    SASH1 for disorders           About GeneDecksing

    OMIM gene information: 607955    OMIM disorders: --

    4 diseases for SASH1:    About MalaCards
    cleft lip/palate    cleft lip    colon cancer    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: SASH1 (5 documents)

    Export disorders for SASH1 gene to outside databases

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

    PubMed articles for SASH1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SASH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SASH1 - a candidate tumour suppressor gene on chromosome 6q24.3 is downregulated in breast cancer. (PubMed id 12771949)1, 2, 3 Zeller C....Scherneck S. (2003)
    2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2, 3 Nagase T.... Ohara O. (1998)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Effects of SASH1 on lung cancer cell proliferation, ap optosis, and invasion in vitro. (PubMed id 22488244)1 Chen E.G....Zhang J.S. (2012)
    7. Overexpression of SASH1 related to the decreased invas ion ability of human glioma U251 cells. (PubMed id 22915266)1 Yang L....Li J. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (2012)
    10. A genome-wide association study for diabetic nephropa thy genes in African Americans. (PubMed id 21150874)1 McDonough C.W....Bowden D.W. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23328 HGNC: 19182 AceView: SASH1 Ensembl:ENSG00000111961 euGenes: HUgn23328
    ECgene: SASH1 H-InvDB: SASH1

    (According to HUGE)
    About This Section
    HUGE: KIAA0790

    (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 SASH1 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 SASH1 gene:
    Search GeneIP for patents involving SASH1

    GeneCards and IP:
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