Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



R3HDM1 Gene

protein-coding   GIFtS: 50
GCID: GC02P136289

R3H Domain Containing 1

(Previous name: R3H domain (binds single-stranded nucleic acids) containing)
(Previous symbol: R3HDM)
  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)
About This Section

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
R3H Domain Containing 11 2
R3HDM1 2 3
R3H Domain (Binds Single-Stranded Nucleic Acids) Containing1 2
R3H Domain-Containing Protein 12
KIAA00293

External Ids:    HGNC: 97571   Entrez Gene: 235182   Ensembl: ENSG000000489917   UniProtKB: Q150323   
ORGUL members:         

Export aliases for R3HDM1 gene to outside databases

Previous GC identifers: GC02P136123 GC02P136005 GC02P128281


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

TryGeneCards Plus

GeneCards Summary for R3HDM1 Gene:
R3HDM1 (R3H domain containing 1) is a protein-coding gene. Diseases associated with R3HDM1 include ataxia, and neuroblastoma. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is R3HDM2.


(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the R3HDM1 gene promoter:
         USF1   AP-2alpha isoform 3   Tal-1   AML1a   p300   AP-2alpha isoform 2   E47   USF-1   AP-2alpha isoform 4   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidR3HDM1 promoter sequence
   Search Chromatin IP Primers for R3HDM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat R3HDM1


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

Entrez Gene cytogenetic band: 2q21.3   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q21.3

R3HDM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
R3HDM1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P136289:  view genomic region     (about GC identifiers)

Start:
136,289,025 bp from pter      End:
136,482,840 bp from pter
Size:
193,816 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, 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: R3HD1_HUMAN, Q15032 (See protein sequence)
Recommended Name: R3H domain-containing protein 1  
Size: 1099 amino acids; 120696 Da
Sequence caution: Sequence=BAA04878.2; Type=Erroneous initiation;
Secondary accessions: Q8IW32
Alternative splicing: 2 isoforms:  Q15032-1   Q15032-2   

Explore the universe of human proteins at neXtProt for R3HDM1: NX_Q15032

Explore proteomics data for R3HDM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See R3HDM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001269727.1  NP_001269728.1  NP_001269729.1  NP_056176.2  

    ENSEMBL proteins: 
     ENSP00000386457   ENSP00000264160   ENSP00000404098   ENSP00000386877   ENSP00000416082  
     ENSP00000387010   ENSP00000405668   ENSP00000402940   ENSP00000403406   ENSP00000387750  
     ENSP00000413763   ENSP00000331396  

    R3HDM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for R3HDM1
    GenScript Custom Purified and Recombinant Proteins Services for R3HDM1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for R3HDM1

    R3HDM1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for R3HDM1
    Novus Biologicals R3HDM1 Antibody
    Search for Antibodies for R3HDM1 at Abcam
    Cloud-Clone Corp. Antibodies for R3HDM1
    Search ThermoFisher Antibodies for R3HDM1
    Search LSBio for Antibodies for R3HDM1

    R3HDM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for R3HDM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for R3HDM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for R3HDM1
    Cloud-Clone Corp. CLIAs for R3HDM1


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

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR001374 R3H_ss-bd
     IPR024771 SUZ

    Graphical View of Domain Structure for InterPro Entry Q15032

    ProtoNet protein and cluster: Q15032

    1 Blocks protein domain: IPB001374 Single-stranded nucleic acid binding R3H

    UniProtKB/Swiss-Prot: R3HD1_HUMAN, Q15032
    Similarity: Contains 1 R3H domain
    Similarity: Contains 1 SUZ domain


    R3HDM1 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.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0044822poly(A) RNA binding IDA--
         
    R3HDM1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for R3HDM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for R3HDM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for R3HDM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for R3HDM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target R3HDM1:
    hsa-mir-320a (MIRT044692)

    Block miRNA regulation of human, mouse, rat R3HDM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate R3HDM1 (see all 19):
    hsa-miR-30c hsa-miR-1287 hsa-miR-300 hsa-let-7a-2* hsa-miR-30d hsa-miR-3653 hsa-miR-519a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidR3HDM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for R3HDM1
    Predesigned siRNA for gene silencing in human, mouse, rat R3HDM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for R3HDM1

    Clone
    Products:
         
    OriGene clones in human, mouse for R3HDM1 (see all 6)
    OriGene ORF clones in mouse, rat for R3HDM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: R3HDM1 (NM_015361)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for R3HDM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat R3HDM1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for R3HDM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for R3HDM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for R3HDM1
    Interactions:

        Search GeneGlobe Interaction Network for R3HDM1

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

    Selected Interacting proteins for R3HDM1 (Q150322, 3 ENSP000002641604) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2871037 I2D: score=3 STRING: ENSP00000244769
    PEX5P505423I2D: score=1 
    ZNF24P170283I2D: score=1 
    MED15ENSP000002632054STRING: ENSP00000263205
    MED20ENSP000002653504STRING: ENSP00000265350
    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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for R3HDM1 (R3HD1)



    (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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for R3HDM1 gene (4 alternative transcripts): 
    NM_001282798.1  NM_001282799.1  NM_001282800.1  NM_015361.3  

    Unigene Cluster for R3HDM1:

    R3H domain containing 1
    Hs.412462  [show with all ESTs]
    Unigene Representative Sequence: NM_015361
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000483021 ENST00000463230 ENST00000409478 ENST00000264160(uc002tuo.3 uc010fni.3)
    ENST00000438014 ENST00000488035 ENST00000410054(uc002tup.3 uc010zbh.2)
    ENST00000436436 ENST00000409606 ENST00000456040 ENST00000480793 ENST00000486532
    ENST00000443537 ENST00000441871 ENST00000429703 ENST00000425804 ENST00000487294
    ENST00000445855
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat R3HDM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate R3HDM1 (see all 19):
    hsa-miR-30c hsa-miR-1287 hsa-miR-300 hsa-let-7a-2* hsa-miR-30d hsa-miR-3653 hsa-miR-519a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidR3HDM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for R3HDM1
    Predesigned siRNA for gene silencing in human, mouse, rat R3HDM1
    Clone
    Products:
         
    OriGene clones in human, mouse for R3HDM1 (see all 6)
    OriGene ORF clones in mouse, rat for R3HDM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: R3HDM1 (NM_015361)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for R3HDM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat R3HDM1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for R3HDM1
    OriGene qSTAR qPCR primer pairs in human, mouse for R3HDM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat R3HDM1
      QuantiTect SYBR Green Assays in human, mouse, rat R3HDM1
      QuantiFast Probe-based Assays in human, mouse, rat R3HDM1

    Additional mRNA sequence: 

    AK026987.1 AK127793.1 AK290015.1 AK297000.1 BC001217.1 BC041093.1 D21852.1 

    19 DOTS entries:

    DT.99936451  DT.444093  DT.97842133  DT.91765962  DT.91765965  DT.120981929  DT.120981938  DT.91765960 
    DT.99994573  DT.100023489  DT.100783632  DT.120981932  DT.120981978  DT.91937103  DT.92434780  DT.95275633 
    DT.99959947  DT.120982014  DT.91765963 

    Selected AceView cDNA sequences (see all 189):

    AW949493 CK820226 BU170798 AU124193 AU123526 AW086199 NM_015361 D21852 
    BX472161 F09566 AA609327 BU165311 BM984783 CF243122 AI074503 AI150121 
    AA471019 BE856664 AI420384 CD557193 AA504206 BM142469 AI419397 AI554735 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for R3HDM1 (see all 17)    About this scheme

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

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


    ECgene alternative splicing isoforms for R3HDM1

    (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)
    About This Section

    TryGeneCards Plus

    R3HDM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    R3HDM1 Expression
    About this image


    R3HDM1 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
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Epidermis (Integumentary System)
    R3HDM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    R3HDM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.412462
        Custom PCR Arrays for R3HDM1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for R3HDM1
    OriGene qSTAR qPCR primer pairs in human, mouse for R3HDM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat R3HDM1
    QuantiTect SYBR Green Assays in human, mouse, rat R3HDM1
    QuantiFast Probe-based Assays in human, mouse, rat R3HDM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for R3HDM1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia R3hdm11 , 5 R3H domain 1 (binds single-stranded nucleic acids)5
    R3H domain containing 11
    90.04(n)1
    90.62(a)1
      1 (55.80 cM)5
    2264121  NM_181750.21  NP_861415.21 
     1281033065 
    chicken
    (Gallus gallus)
    Aves R3HDM11 R3H domain containing 1 80.96(n)
    80.15(a)
      424292  XM_422137.4  XP_422137.3 
    lizard
    (Anolis carolinensis)
    Reptilia R3HDM16
    R3H domain containing 1
    77(a)
    1 ↔ 1
    1(96595969-96688692)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX853422.12   -- 76.54(n)    BX853422.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570739892   -- 75.75(n)   338117  57073989 
    fruit fly
    (Drosophila melanogaster)
    Insecta enc6
    encore
    11(a)
    1 → many
    3L(3818679-3842326)
    worm
    (Caenorhabditis elegans)
    Secernentea ZK121.26
    Protein ZK121.2 (ZK121.2) mRNA, complete cds
    25(a)
    1 → many
    III(5341690-5344273) WBGene00022664


    ENSEMBL Gene Tree for R3HDM1 (if available)
    TreeFam Gene Tree for R3HDM1 (if available)

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

    TryGeneCards Plus
    Paralogs for R3HDM1 gene
    R3HDM22  ARPP212  ENSG000002588302  
    3 SIMAP similar genes for R3HDM1 using alignment to 12 protein entries:     R3HD1_HUMAN (see all proteins):
    R3HDM    ARPP21    R3HDM2

    R3HDM1 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

    TryGeneCards Plus

    Selected SNPs for R3HDM1 (see all 3215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907211771,2
    --136291073(+) GATCCC/TTCCAT 1 -- int10--------
    rs1814768081,2
    --136291173(+) TGGCCA/GGGCGC 1 -- int10--------
    rs1874252511,2
    --136291211(+) TGGGAA/GGCTGG 1 -- int10--------
    rs1919407521,2
    --136291222(+) GCGGGC/TGGATC 1 -- int10--------
    rs92874411,2
    C,A--136291310(+) CGCTCA/GTGGTG 1 -- int16Minor allele frequency- G:0.43WA CSA EA 244
    rs1830375101,2
    --136291488(+) AATCCC/TCTAGC 1 -- int10--------
    rs1143519421,2
    F--136291586(+) GTGTTG/ATTGCA 1 -- int11Minor allele frequency- A:0.01NA 120
    rs1865826681,2
    --136291616(+) TACTGA/CAGAGT 1 -- int10--------
    rs1473324651,2
    --136291713(+) TGAATC/TAAAAT 1 -- int10--------
    rs1902419681,2
    --136291808(+) CTTTTA/CAATTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for R3HDM1 (136289025 - 136482840 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for R3HDM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720864CNV Deletion23290073
    esv34026CNV Loss18971310

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing R3HDM1
    DNA2.0 Custom Variant and Variant Library Synthesis for R3HDM1

    (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

    TryGeneCards Plus
    2 diseases for R3HDM1:    
    About MalaCards
    ataxia    neuroblastoma


    R3HDM1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): R3HDM1
    Human Genome Epidemiology (HuGE) Navigator: R3HDM1 (2 documents)

    Export disorders for R3HDM1 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

    TryGeneCards Plus

    PubMed articles for R3HDM1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with R3HDM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2, 3 Nomura N.... Tabata S. (DNA Res. 1994)
    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. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 2004)
    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. (Genome Res. 2004)
    5. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    6. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. 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)
    9. Global analysis of host-pathogen interactions that regulate early-stage HIV-1 replication. (PubMed id 18854154)1 KAPnig R....Chanda S.K. (Cell 2008)
    10. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (PubMed id 18463370)4 Maris J.M....Hakonarson H. (N. Engl. J. Med. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 23518 HGNC: 9757 AceView: R3HDM Ensembl:ENSG00000048991 euGenes: HUgn23518
    ECgene: R3HDM1 H-InvDB: R3HDM1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0029

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for R3HDM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for R3HDM1 gene:
    Search GeneIP for patents involving R3HDM1

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for R3HDM1  
     OriGene qPCR primer pairs and template standards for R3HDM1   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for R3HDM1  
     OriGene qSTAR qPCR primer pairs in human, mouse for R3HDM1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for R3HDM1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for R3HDM1   OriGene Custom Protein Services for R3HDM1  

     
     
     Block miRNA regulation of human, mouse, rat R3HDM1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing R3HDM1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat R3HDM1 Predesigned siRNA for gene silencing in human, mouse, rat R3HDM1
     QuantiFast Probe-based Assays in human, mouse, rat R3HDM1 QuantiTect SYBR Green Assays in human, mouse, rat R3HDM1
     Custom PCR Arrays for R3HDM1 Search Chromatin IP Primers for R3HDM1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat R3HDM1  Search GeneGlobe Interaction Network for R3HDM1
     Regulatory tfbs in R3HDM1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for R3HDM1 GenScript cDNA clones with any tag delivered in your preferred vector for R3HDM1
     GenScript Custom Assay Services for R3HDM1 GenScript Custom overexpressing Cell Line Services for R3HDM1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for R3HDM1 (R3HD1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     R3HDM1 antibodies
     Search for Antibodies for R3HDM1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for R3HDM1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for R3HDM1
     Antibodies for R3HDM1
     ELISAs for R3HDM1
     CLIAs for R3HDM1



     Browse ESI BIO Cell Lines and PureStem Progenitors for R3HDM1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HDM1
     SwitchGear 3'UTR luciferase reporter plasmids for R3HDM1
     SwitchGear Promoter luciferase reporter plasmids for R3HDM1
     Search ThermoFisher Antibodies for R3HDM1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat R3HDM1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for R3HDM1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for R3HDM1
     Search LSBio for Antibodies for R3HDM1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      R3HDM1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4