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SH3D21 Gene

protein-coding   GIFtS: 40
GCID: GC01P036772

SH3 Domain Containing 21

(Previous name: chromosome 1 open reading frame 113)
(Previous symbol: C1orf113)
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(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 211 2
C1orf1131 2 3
Chromosome 1 Open Reading Frame 1131
SH3 Domain-Containing Protein 212
SH3 Domain-Containing Protein C1orf1132

External Ids:    HGNC: 262361   Entrez Gene: 797292   Ensembl: ENSG000002141937   UniProtKB: A4FU493   

Export aliases for SH3D21 gene to outside databases


(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 SH3D21 Gene:
SH3D21 (SH3 domain containing 21) is a protein-coding gene. An important paralog of this gene is CD2AP.


(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_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SH3D21
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for SH3D21

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SH3D21


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

Entrez Gene cytogenetic band: 1p34.3   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.3

SH3D21 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SH3D21 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P036772:  view genomic region     (about GC identifiers)

Start:
36,771,988 bp from pter      End:
36,790,484 bp from pter
Size:
18,497 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SH321_HUMAN, A4FU49 (See protein sequence)
Recommended Name: SH3 domain-containing protein 21  
Size: 640 amino acids; 70519 Da
Sequence caution: Sequence=AAI01677.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAI01679.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB15504.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAB71191.1; Type=Erroneous translation; Note=Wrong choice of
CDS; Sequence=CAH71860.2; Type=Erroneous gene model prediction; Sequence=EAX07375.1; Type=Erroneous gene model
prediction; Sequence=EAX07376.1; Type=Erroneous gene model prediction;
Secondary accessions: B4DLI6 D3DPS6 J3KQM5 Q5VTK7 Q86XZ6 Q8N445 Q96DN4 Q9H5W5
Alternative splicing: 5 isoforms:  A4FU49-1   A4FU49-3   A4FU49-4   A4FU49-5   A4FU49-6   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SH3D21: NX_A4FU49

Explore proteomics data for SH3D21 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SH3D21 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001156002.1  NP_078952.4  

    ENSEMBL proteins: 
     ENSP00000362232   ENSP00000421294   ENSP00000425484   ENSP00000403476   ENSP00000408613  
     ENSP00000321936  

    SH3D21 Human Recombinant Protein Products:

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    antibodies-online proteins for SH3D21 (2 products) 

     
    Search antibodies-online for peptides for SH3D21

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    antibodies-online antibodies for SH3D21 (13 products) 

    SH3D21 Assay Products:

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    Cloud-Clone Corp. CLIAs for SH3D21
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    antibodies-online kits for SH3D21 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001452 SH3_domain
     IPR013315 Spectrin_alpha_SH3
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry A4FU49

    ProtoNet protein and cluster: A4FU49

    UniProtKB/Swiss-Prot: SH321_HUMAN, A4FU49
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with SH3D21           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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 SH3D21           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SH3D21

    miRNA
    Products:
        
    miRTarBase miRNAs that target SH3D21:
    hsa-mir-335-5p (MIRT017054)

    Block miRNA regulation of human, mouse, rat SH3D21 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SH3D21:
    hsa-miR-576-3p hsa-miR-588 hsa-miR-455-5p hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidSH3D21 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SH3D21
    Predesigned siRNA for gene silencing in human, mouse, rat SH3D21

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): SH3D21 (NM_024676)
    Browse Sino Biological Human cDNA Clones
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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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    (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 SH3D21
    Interactions:

        Search GeneGlobe Interaction Network for SH3D21

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

    Selected Interacting proteins for SH3D21 (A4FU493 ENSP000003219364) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005333, ENSP000002754934I2D: score=1 STRING: ENSP00000275493
    ARHGEF10LQ9HCE63I2D: score=1 
    GOLGB1Q147893I2D: score=1 
    AK2ENSP000003469214STRING: ENSP00000346921
    ARTNENSP000003919984STRING: ENSP00000391998
    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 SH3D21 (SH321)



    (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 SH3D21 gene (2 alternative transcripts): 
    NM_001162530.1  NM_024676.4  

    Unigene Cluster for SH3D21:

    SH3 domain containing 21
    Hs.524496  [show with all ESTs]
    Unigene Representative Sequence: AK056459
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373139 ENST00000505871(uc009vuz.1) ENST00000480549(uc010oic.1)
    ENST00000496636 ENST00000508854 ENST00000474766 ENST00000453908(uc010oia.1)
    ENST00000426732 ENST00000312808(uc010oib.1)
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate SH3D21:
    hsa-miR-576-3p hsa-miR-588 hsa-miR-455-5p hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidSH3D21 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SH3D21
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    GenScript: all cDNA clones in your preferred vector (see all 2): SH3D21 (NM_024676)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SH3D21
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat SH3D21
      QuantiFast Probe-based Assays in human, mouse, rat SH3D21

    Additional mRNA sequence: 

    AK026591.1 AK056459.1 AK297015.1 BC036763.1 BC048273.1 BC101676.1 BC101678.1 

    7 DOTS entries:

    DT.97839374  DT.100688771  DT.99954074  DT.97839373  DT.40309189  DT.95197404  DT.97826872 

    Selected AceView cDNA sequences (see all 78):

    BC036763 AA426190 BF448949 BQ653081 BM834826 AI304726 BC048273 BX094136 
    AI660231 AK026591 AI274105 AA252262 BI496816 AY240960 CA396557 BM127821 
    AI467782 BM128101 AI671089 AW301083 NM_024676 BM831728 T82280 CB046377 

    GeneLoc Exon Structure


    (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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    SH3D21 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCTCCCAT
    SH3D21 Expression
    About this image

    SH3D21 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SH3D21 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.524496
        Custom PCR Arrays for SH3D21
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH3D21

    (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 SH3D21 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sh3d211 , 5 RIKEN cDNA 1700029G01 gene5
    SH3 domain containing 211
    71.2(n)1
    58.61(a)1
      4 (59.97 cM)5
    669381  NM_001162533.11  NP_001156005.11 
     1261506025 
    lizard
    (Anolis carolinensis)
    Reptilia SH3D216
    SH3 domain containing 21
    23(a)
    1 ↔ 1
    GL343481.1(18969-40633)
    zebrafish
    (Danio rerio)
    Actinopterygii SH3D216
    SH3 domain containing 21
    28(a)
    1 ↔ 1
    16(39881005-39914131) ENSDARG00000041190
    fruit fly
    (Drosophila melanogaster)
    Insecta cindr6
    CIN85 and CD2AP orthologue
    14(a)
    1 → many
    3R(26634338-26652722)
    worm
    (Caenorhabditis elegans)
    Secernentea Y44E3A.46
    Protein Y44E3A.4 (Y44E3A.4) mRNA, complete cds
    16(a)
    1 → many
    I(3319853-3330673) WBGene00021549


    ENSEMBL Gene Tree for SH3D21 (if available)
    TreeFam Gene Tree for SH3D21 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SH3D21 gene
    CD2AP2  SH3KBP12  
    3 SIMAP similar genes for SH3D21 using alignment to 3 protein entries:     SH321_HUMAN (see all proteins):
    SH3GL2    ARHGEF7    ITSN1

    Find genes that share paralogs with SH3D21           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 SH3D21 (see all 357)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1408725851,2
    --36771541(+) TGCTGA/GTACAA 2 -- us2k10--------
    rs1446889201,2
    --36771586(+) AGCGGC/TTGCTA 2 -- us2k10--------
    rs3687821871,2
    C--36771774(+) AAGAAA/CCTGTG 2 -- us2k10--------
    rs1389522131,2
    --36772517(+) CGCAAC/GGGCGG 2 -- us2k1 int10--------
    rs3716972521,2
    C--36772534(+) GCGCCA/GGTGGG 2 -- us2k1 int10--------
    rs1878879591,2
    C--36772712(+) TCCCCA/CAGCTC 2 -- ut51 int10--------
    rs18754281,2
    C,F,H--36772868(+) GAGATC/GGTGGA 3 I M ut51 mis115Minor allele frequency- G:0.22NA NS EA WA CSA 739
    rs1380161971,2
    C--36773075(+) GACTC-/TTGGGGC 2 -- int10--------
    rs353434371,2
    C,F,H--36773405(+) AGCCCT/GGGTCC 4 /P syn120Minor allele frequency- G:0.43NS EA NA CSA WA EU 2955
    rs1156842971,2
    C,F--36773415(+) CCCAGC/TGGCCT 4 R W mis11Minor allele frequency- T:0.01WA 118

    HapMap Linkage Disequilibrium report for SH3D21 (36771988 - 36790484 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SH3D21:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv444CNV Loss18451855
    nsv834702CNV Loss17160897
    dgv47e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SH3D21
    DNA2.0 Custom Variant and Variant Library Synthesis for SH3D21

    (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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    (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 SH3D21 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with SH3D21)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross- validation of MS/MS and MS/MS/MS spectra. (PubMed id 17924679)1 Yu L.R.... Veenstra T.D. (J. Proteome Res. 2007)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    8. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)

    (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: 79729 HGNC: 26236 AceView: FLJ22938 Ensembl:ENSG00000214193 euGenes: HUgn79729
    ECgene: SH3D21 H-InvDB: SH3D21

    (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 SH3D21 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 SH3D21 gene:
    Search GeneIP for patents involving SH3D21

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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