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

SRBD1 Gene

protein-coding   GIFtS: 48
GCID: GC02M045615

S1 RNA binding domain 1

 Explore 3 diseases affiliated with
SRBD1 via our new
 Human Malady Compendium 
Biological research products
for SRBD1
    

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

Aliases
S1 RNA Binding Domain 11 2
FLJ103791
H_NH0576F01.12
WUGSC:H_NH0576F01.12
S1 RNA-Binding Domain-Containing Protein 12

External Ids:    HGNC: 255211   Entrez Gene: 551332   Ensembl: ENSG000000687847   UniProtKB: Q8N5C63   

Export aliases for SRBD1 gene to outside databases

Previous GC identifers: GC02M045469 GC02M045354


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

  --

(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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SRBD1 gene promoter:
         Oct-B1   TBP   oct-B3   oct-B2   E4BP4   RORalpha1   POU2F1   Nkx6-1   TFIID   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRBD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SRBD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRBD1


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

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

SRBD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRBD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M045615:  view genomic region     (about GC identifiers)

Start:
45,615,819 bp from pter      End:
45,839,304 bp from pter
Size:
223,486 bases      Orientation:
minus 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: SRBD1_HUMAN, Q8N5C6 (See protein sequence)
Recommended Name: S1 RNA-binding domain-containing protein 1  
Size: 995 amino acids; 111776 Da
Sequence caution: Sequence=AAY14821.1; Type=Erroneous gene model prediction;
Secondary accessions: Q53T56 Q96TA4 Q9NW11
Alternative splicing: 2 isoforms:  Q8N5C6-1   Q8N5C6-2   

Explore the universe of human proteins at neXtProt for SRBD1: NX_Q8N5C6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N5C6

  • SRBD1 Protein expression data from MOPED and PaxDb:    About this image 
    SRBD1 Protein Expression
    REFSEQ proteins: NP_060549.4  
    ENSEMBL proteins: 
     ENSP00000263736   ENSP00000441272  

    Human Recombinant Protein Products for SRBD1: 
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    Uscn Proteins for SRBD1


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    Uscn ELISAs and CLIAs for SRBD1


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

    SRBD1 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR012340 NA-bd_OB-fold
     IPR003029 Rbsml_prot_S1_RNA-bd_dom
     IPR023323 Tex-like_dom
     IPR023319 Tex-like_HTH_dom
     IPR006641 YqgF/RNaseH-like_dom

    Graphical View of Domain Structure for InterPro Entry Q8N5C6

    ProtoNet protein and cluster: Q8N5C6

    1 Blocks protein family: IPB003029 RNA binding S1

    UniProtKB/Swiss-Prot: SRBD1_HUMAN, Q8N5C6
    Similarity: Contains 1 S1 motif domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0016788hydrolase activity, acting on ester bonds IEA--
         
    SRBD1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SRBD1:
     Cell division defect  Increased G2M DNA content  Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SRBD1 

    miRNA
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    hsa-miR-3163 hsa-miR-3159 hsa-miR-592
    SwitchGear 3'UTR luciferase reporter plasmidSRBD1 3' UTR sequence
    Inhib. RNA
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRBD1


    (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 SRBD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for SRBD1 (Q8N5C63 ENSP000002637364) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SART3Q150203, ENSP000002282844I2D: score=2 STRING: ENSP00000228284
    USP45Q70EL23, ENSP000003333764I2D: score=2 STRING: ENSP00000333376
    PRKAA1Q131313I2D: score=1 
    CUX1ENSP000002925354STRING: ENSP00000292535
    CBX7ENSP000002161334STRING: ENSP00000216133
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006139nucleobase-containing compound metabolic process IEA--

    SRBD1 for ontologies           About GeneDecksing



    (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 SRBD1
    Search CenterWatch for drugs/clinical trials and news about SRBD1 

    (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, Sirion Biotech, 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 SRBD1 gene: 
    NM_018079.4  

    Unigene Cluster for SRBD1:

    S1 RNA binding domain 1
    Hs.14229  [show with all ESTs]
    Unigene Representative Sequence: NM_018079
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263736(uc010yoc.2 uc002rus.3) ENST00000490133 ENST00000475073
    ENST00000493649 ENST00000461805 ENST00000535761

    miRNA
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    hsa-miR-3163 hsa-miR-3159 hsa-miR-592
    SwitchGear 3'UTR luciferase reporter plasmidSRBD1 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SRBD1 (see all 4)
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SRBD1 
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SRBD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SRBD1

    Additional cDNA sequence: 

    AK001241.1 AK055896.1 AK056536.1 AK301122.1 AK316222.1 BC032538.1 

    5 DOTS entries:

    DT.452509  DT.100718784  DT.95355916  DT.95250943  DT.99993307 

    24/92 AceView cDNA sequences (see all 92):

    AK056536 AI880589 CN482331 CR615345 CB240838 AU124317 AK055896 BX099167 
    CA310423 CK906214 BE671767 AI655126 AA173044 NM_018079 AI283963 BM127324 
    CA426893 AL529203 BM449711 BF059599 BQ434016 BX369047 BQ427891 BM969133 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SRBD1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                                                                        -                                 
    SP2:                                                                                                                                          
    SP3:                                                                                                                                          


    ECgene alternative splicing isoforms for SRBD1

    (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

    SRBD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGCCAAAA
    SRBD1 Expression
    About this image
    See SRBD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SRBD1

    SOURCE GeneReport for Unigene cluster: Hs.14229
        SABiosciences Custom PCR Arrays for SRBD1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRBD1

    (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 last universal common ancestor (LUCA).

    Orthologs for SRBD1 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SRBD11 S1 RNA binding domain 1 71.57(n)
    72.15(a)
      421408  XM_419463.2  XP_419463.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    74(a)
    61(a)
    1 ↔ many
    1 ↔ many
    GL343284.1(935912-957381)
    GL343284.1(740718-790547)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480463772   -- 72.2(n)    48046377 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5582011 uncharacterized LOC558201 58.73(n)
    56.72(a)
      558201  XM_001921482.3  XP_001921517.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG311561 CG31156 46.24(n)
    38.25(a)
      42669  NM_142813.5  NP_651070.3 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK973.11 Protein ZK973.1 46.72(n)
    34.31(a)
      172040  NM_058961.2  NP_491362.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yhgF6
    predicted transcriptional accessory protein
    33(a)
    possible ortholog
    Chromosome(3535407-3537728)


    ENSEMBL Gene Tree for SRBD1 (if available)
    TreeFam Gene Tree for SRBD1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/4161 NCBI SNPs in SRBD1 are shown (see all 4161    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422393281,2
    --45615537(+) CCATCC/TCCACT 1 -- int10--------
    rs1445400571,2
    --45615602(+) TCACAC/TCTGAT 1 -- int10--------
    rs1478185051,2
    --45615690(+) TATGCC/TAAATC 1 -- int10--------
    rs1915196331,2
    --45615879(+) GTTTCA/GAGCCA 1 -- ut310--------
    rs1833031221,2
    --45615975(+) AATTAA/TGAATG 1 -- ut310--------
    rs67543531,2
    C,F,H--45616023(+) TGGAAG/CGATTA 1 -- ut31 ese310Minor allele frequency- C:0.02NS EA NA WA CSA 684
    rs1880381311,2
    --45616143(+) TGTTAC/TACAAA 1 -- ut310--------
    rs1921270831,2
    --45616300(+) CAGAAA/GAAAAA 1 -- ut310--------
    rs1152587821,2
    C,F--45616313(+) AAAGGA/CAAGTG 1 -- ut311Minor allele frequency- C:0.14WA 118
    rs1142792131,2
    C,F--45616345(+) TAAGTG/TAATTA 1 -- ut311Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for SRBD1 (45615819 - 45839304 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for SRBD1
         6 CNVs: 67667 89625 97836 8368 50503 97837
         1 Indel: 89626

    SABiosciences Cancer Mutation 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.)
    About This Section

    SRBD1 for disorders           About GeneDecksing

    3 diseases for SRBD1:    About MalaCards
    low tension glaucoma    glaucoma    pneumonia

    1 disease from the University of Copenhagen DISEASES database for SRBD1:
    Glaucoma
    Human Genome Epidemiology (HuGE) Navigator: SRBD1 (3 documents)

    Export disorders for SRBD1 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 SRBD1 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SRBD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. 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. (2002)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)1 Naji S....Gerace L. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    9. Genome-wide association study of normal tension glauc oma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. (PubMed id 20363506)1  ....Bahram S. (2010)
    10. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55133 HGNC: 25521 AceView: FLJ10379 Ensembl:ENSG00000068784 euGenes: HUgn55133
    ECgene: SRBD1 H-InvDB: SRBD1

    (According to HUGE)
    About This Section
      --

    (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 SRBD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SRBD1 gene:
    Search GeneIP for patents involving SRBD1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
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    von Willebrand factor
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