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SH3TC1 Gene

protein-coding   GIFtS: 47
GCID: GC04P008183

SH3 Domain And Tetratricopeptide Repeats 1

  Search for SH3TC1
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 And Tetratricopeptide Repeats 11 2
SH3 Domain And Tetratricopeptide Repeat-Containing Protein 12
SH3 Domain And Tetratricopeptide Repeats-Containing Protein 12

External Ids:    HGNC: 260091   Entrez Gene: 544362   Ensembl: ENSG000001250897   UniProtKB: Q8TE823   

Export aliases for SH3TC1 gene to outside databases

Previous GC identifers: GC04P008393 GC04P008319 GC04P008251 GC04P008201 GC04P008120


(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 SH3TC1 Gene:
SH3TC1 (SH3 domain and tetratricopeptide repeats 1) is a protein-coding gene. An important paralog of this gene is SH3TC2.


(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 at NCBI GenBank:
NC_000004.11  NT_006051.19  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SH3TC1 gene promoter:
         POU3F1   Pax-6   Lmo2   NF-kappaB   E47   NF-kappaB2   Hand1   Chx10   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSH3TC1 promoter sequence
   Search Chromatin IP Primers for SH3TC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3TC1


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

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

SH3TC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3TC1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P008183:  view genomic region     (about GC identifiers)

Start:
8,183,799 bp from pter      End:
8,243,530 bp from pter
Size:
59,732 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: S3TC1_HUMAN, Q8TE82 (See protein sequence)
Recommended Name: SH3 domain and tetratricopeptide repeat-containing protein 1  
Size: 1336 amino acids; 146961 Da
Secondary accessions: Q4W5G5

Explore the universe of human proteins at neXtProt for SH3TC1: NX_Q8TE82

Explore proteomics data for SH3TC1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3TC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061859.3  
    ENSEMBL proteins: 
     ENSP00000422315   ENSP00000425970   ENSP00000371961   ENSP00000245105   ENSP00000390311  
     ENSP00000425079   ENSP00000427316   ENSP00000426035   ENSP00000423583   ENSP00000475411  
     ENSP00000441045  

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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:
    TTC: Tetratricopeptide (TTC) repeat domain containing

    3 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001452 SH3_domain
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8TE82

    ProtoNet protein and cluster: Q8TE82

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: S3TC1_HUMAN, Q8TE82
    Similarity: Contains 1 SH3 domain
    Similarity: Contains 9 TPR repeats


    Find genes that share domains with SH3TC1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with SH3TC1           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SH3TC1
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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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with SH3TC1           About GenesLikeMe


    (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 SH3TC1
    Interactions:

        Search GeneGlobe Interaction Network for SH3TC1

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with SH3TC1           About GenesLikeMe



    (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 SH3TC1 (S3TC1)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SH3TC1 gene: 
    NM_018986.3  

    Unigene Cluster for SH3TC1:

    SH3 domain and tetratricopeptide repeats 1
    Hs.479116  [show with all ESTs]
    Unigene Representative Sequence: AK126165
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000510763 ENST00000509119 ENST00000507123 ENST00000506360 ENST00000502669
    ENST00000382521 ENST00000245105(uc003gkv.4 uc003gkx.4) ENST00000457650
    ENST00000515682 ENST00000504822 ENST00000503284 ENST00000504223 ENST00000512100
    ENST00000507891 ENST00000508641 ENST00000514274 ENST00000508438 ENST00000509553

    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate SH3TC1
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    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SH3TC1 (NM_018986)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SH3TC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SH3TC1
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      QuantiTect SYBR Green Assays in human, mouse, rat SH3TC1
      QuantiFast Probe-based Assays in human, mouse, rat SH3TC1

    Additional mRNA sequence: 

    AK000363.1 AK074402.1 AK126165.1 AK222865.1 AK310552.1 BC028011.1 BC030283.1 BC068094.1 
    BC131785.1 

    16 DOTS entries:

    DT.211037  DT.100775296  DT.99948038  DT.40269465  DT.101975261  DT.121232430  DT.100025933  DT.121232450 
    DT.121232461  DT.95197788  DT.100745235  DT.121232444  DT.121232446  DT.92420813  DT.91652509  DT.91704735 

    Selected AceView cDNA sequences (see all 134):

    AI719732 AA380624 BM128923 CA488989 CA776992 AI913259 AI439165 AI479274 
    AW055222 AI261362 BC068094 AI733671 BX100810 AA300200 CK824905 AI739264 
    BM264617 BX483858 AA020913 BP373081 AI017843 CA772430 CK824904 AW272331 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SH3TC1 (see all 22)    About this scheme

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

    ExUns: 16b ^ 17a · 17b · 17c · 17d ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29a ·
    SP1:        -                             -     -     -     -     -                 -     -     -     -     -                 -     -                           
    SP2:        -                             -     -     -     -     -                 -     -     -     -     -                 -     -                           
    SP3:        -                             -     -     -     -     -                                                           -     -                           
    SP4:                                                        -     -                                                           -     -                           
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for SH3TC1

    (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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    SH3TC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGAGCTGGC
    SH3TC1 Expression
    About this image


    SH3TC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Heart (Cardiovascular System)
             Endocardial Tube Cells Endocardium
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
    SH3TC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3TC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.479116
        Custom PCR Arrays for SH3TC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3TC1

    (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 chordates.

    Orthologs for SH3TC1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3tc11 , 5 SH3 domain and tetratricopeptide repeats 11, 5 78.07(n)1
    74.31(a)1
      5 (18.60 cM)5
    2311471  NM_194344.21  NP_919325.21 
     356971805 
    chicken
    (Gallus gallus)
    Aves SH3TC11 SH3 domain and tetratricopeptide repeats 1 57.44(n)
    55.35(a)
      422867  XM_420812.4  XP_420812.3 
    lizard
    (Anolis carolinensis)
    Reptilia SH3TC16
    SH3 domain and tetratricopeptide repeats 1
    48(a)
    1 ↔ 1
    GL343236.1(1508493-1553867)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sh3tc11 SH3 domain and tetratricopeptide repeats 1 56.38(n)
    52.84(a)
      100491060  XM_004911255.1  XP_004911312.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sh3tc11 SH3 domain and tetratricopeptide repeats 1 52.53(n)
    43.99(a)
      100535608  XM_005166494.1  XP_005166551.1 


    ENSEMBL Gene Tree for SH3TC1 (if available)
    TreeFam Gene Tree for SH3TC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3TC1 gene
    SH3TC22  
    2 SIMAP similar genes for SH3TC1 using alignment to 14 protein entries:     S3TC1_HUMAN (see all proteins):
    FLJ00164    SH3TC2

    Find genes that share paralogs with SH3TC1           About GenesLikeMe



    (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 SH3TC1 (see all 1585)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358664
    A colorectal cancer sample4--see VAR_0358662 R H mis40--------
    VAR_0358674
    A colorectal cancer sample4--see VAR_0358672 A T mis40--------
    rs1867694691,2
    --8199090(+) TGGCAC/TACAGT 1 -- us2k10--------
    rs16782611,2
    C,F,H--8199091(+) GGCACG/ACAGTT 1 -- us2k120Minor allele frequency- A:0.05NS EA NA WA CSA 1570
    rs1160088791,2
    C,F--8199137(+) CTCGAC/TGAGGC 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs1924004621,2
    C--8199177(+) GCAGCC/TGGGGC 1 -- us2k10--------
    rs1498882711,2
    C--8199192(+) GAGCCA/GTGTCC 1 -- us2k10--------
    rs1450703981,2
    C--8199330(+) TGCTCA/TCTGAG 1 -- us2k10--------
    rs1491246541,2
    --8199369(+) GGCCAC/GGCCGG 1 -- us2k10--------
    rs716039151,2
    C,F--8199372(+) CAGGCC/G/TGGGCC 1 -- us2k12NA WA 120

    HapMap Linkage Disequilibrium report for SH3TC1 (8183799 - 8243530 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SH3TC1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv863e201CNV Deletion23290073
    dgv862e201CNV Deletion23290073
    esv2658523CNV Deletion23128226
    nsv4220CNV Insertion18451855
    dgv5456n71CNV Loss21882294
    dgv5455n71CNV Loss21882294
    dgv5457n71CNV Loss21882294
    nsv878591CNV Loss21882294
    nsv878593CNV Loss21882294
    nsv470012CNV Loss18288195

    Site Specific Mutation Identification with 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.)
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    Find genes that share disorders with SH3TC1           About GenesLikeMe

    Genetic Association Database (GAD): SH3TC1
    Human Genome Epidemiology (HuGE) Navigator: SH3TC1 (2 documents)

    Export disorders for SH3TC1 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 SH3TC1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SH3TC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. 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)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    9. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (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: 54436 HGNC: 26009 AceView: SH3TC1 Ensembl:ENSG00000125089 euGenes: HUgn54436
    ECgene: SH3TC1 H-InvDB: SH3TC1

    (According to HUGE)
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      --

    (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 SH3TC1 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 SH3TC1 gene:
    Search GeneIP for patents involving SH3TC1

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



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