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ALYREF Gene

protein-coding   GIFtS: 54
GCID: GC17M079855

Aly/REF Export Factor

(Previous name: THO complex 4)
(Previous symbol: THOC4)
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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
Aly/REF Export Factor1 2 3     BZIP-Enhancing Factor BEF2 3
THOC41 2 3 5     ALY/REF2
ALY2 3 5     REF2
BEF2 3 5     BZIP Enhancing Factor2
THO Complex 41 2     THO Complex Subunit 42
Ally Of AML-1 And LEF-12 3     tho42
Transcriptional Coactivator Aly/REF2 3     Tho43

External Ids:    HGNC: 190711   Entrez Gene: 101892   Ensembl: ENSG000001836847   OMIM: 6041715   UniProtKB: Q86V813   

Export aliases for ALYREF gene to outside databases

Previous GC identifers: GC17M079846 GC17M079849 GC17M079852


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALYREF Gene:
The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is
thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP)
proteins. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALYREF Gene:
ALYREF (Aly/REF export factor) is a protein-coding gene. GO annotations related to this gene include RNA binding and nucleotide binding.

UniProtKB/Swiss-Prot: THOC4_HUMAN, Q86V81
Function: Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to
be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Component of the TREX complex which is
thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced
mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent
mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and
cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm.
TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. The TREX
complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and
infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral
mRNA. Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC). In conjunction
with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding
activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in the nuclear export of
intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B. Involved in transcription
elongation and genome stability
Function: Acts as chaperone and promotes the dimerization of transcription factors containing basic leucine zipper
(bZIP) domains and thereby promotes transcriptional activation

Gene Wiki entry for ALYREF (THOC4) Gene


(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_000017.10  NT_010663.16  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for ALYREF
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079855:  view genomic region     (about GC identifiers)

Start:
79,845,711 bp from pter      End:
79,849,462 bp from pter
Size:
3,752 bases      Orientation:
minus 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: THOC4_HUMAN, Q86V81 (See protein sequence)
Recommended Name: THO complex subunit 4  
Size: 257 amino acids; 26888 Da
Subunit: Homomultimer. Is part of several complexes involved in mRNA processing and export. Component of the
transcription/export (TREX) complex at least composed of ALYREF/THOC4, DDX39B, SARNP/CIP29, CHTOP and the THO
subcomplex; TREX seems to have a dynamic structure involving ATP-dependent remodeling; in the complex interacts
(via C-terminus) directly with DDX39B and interacts directly with THOC1 and THOC2. Found in mRNA
splicing-dependent exon junction complexes (EJC). Identified in the spliceosome C complex. Found in a mRNP
complex with UPF3A and UPF3B. Interacts with RBM8A, NCBP1, THOC5, LEF1, RUNX1, EIF4A3, RNPS1, SRRM1, IWS1 and
EXOSC1. Interacts with NXF1; the interaction is direct. Interacts with human Kaposi's sarcoma-associated
herpesvirus (HHV-8) ORF57 protein; this interaction allows efficient export of HHV-8 early and late intronless
transcripts. Interacts with HHV-1 ICP27 protein; this interaction recruits ALYREF to viral replication
compartments and probably directs viral mRNA to the TAP/NFX1 pathway
Miscellaneous: Antibodies against ALYREF/THOC4 are found in sera of patients with systemic lupus erythematosus
(SLE)
1 PDB 3D structure from and Proteopedia for ALYREF:
3ULH (3D)    
Secondary accessions: O43672

Explore the universe of human proteins at neXtProt for ALYREF: NX_Q86V81

Explore proteomics data for ALYREF at MOPED

Post-translational modifications: 

  • Arg-50 and Arg-204 are dimethylated, probably to asymmetric dimethylarginine. Arginine methylation reduces RNA
    binding1
  • Citrullinated by PADI4 (By similarity)1
  • Ubiquitination2 at Lys4, Lys14, Lys81, Lys86, Lys164, Lys235
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_005773.3  
    ENSEMBL proteins: 
     ENSP00000421592   ENSP00000331817  
    Reactome Protein details: Q86V81

    ALYREF Human Recombinant Protein Products:

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    Novus Biologicals ALYREF Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ALYREF 

    ALYREF Antibody Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for ALYREF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing
    THOC: THO complex subunits

    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR025715 FoP_duplication

    Graphical View of Domain Structure for InterPro Entry Q86V81

    ProtoNet protein and cluster: Q86V81

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: THOC4_HUMAN, Q86V81
    Similarity: Belongs to the ALYREF family
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    Find genes that share domains with ALYREF           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: THOC4_HUMAN, Q86V81
    Function: Export adapter involved in nuclear export of spliced and unspliced mRNA. Binds mRNA which is thought to
    be transferred to the NXF1-NXT1 heterodimer for export (TAP/NFX1 pathway). Component of the TREX complex which is
    thought to couple mRNA transcription, processing and nuclear export, and specifically associates with spliced
    mRNA and not with unspliced pre-mRNA. TREX is recruited to spliced mRNAs by a transcription-independent
    mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and
    cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm.
    TREX recruitment occurs via an interaction between ALYREF/THOC4 and the cap-binding protein NCBP1. The TREX
    complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and
    infectious virus production; ALYREF/THOC4 mediates the recruitment of the TREX complex to the intronless viral
    mRNA. Required for TREX complex assembly and for linking DDX39B to the cap-binding complex (CBC). In conjunction
    with THOC5 functions in NXF1-NXT1 mediated nuclear export of HSP70 mRNA; both proteins enhance the RNA binding
    activity of NXF1 and are required for NXF1 localization to the nuclear rim. Involved in the nuclear export of
    intronless mRNA; proposed to be recruited to intronless mRNA by ATP-bound DDX39B. Involved in transcription
    elongation and genome stability
    Function: Acts as chaperone and promotes the dimerization of transcription factors containing basic leucine zipper
    (bZIP) domains and thereby promotes transcriptional activation

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI15047853
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with ALYREF           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALYREF:
     Decreased TP53 protein express  Decreased homologous recombina 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALYREF
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    miRNA
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    Block miRNA regulation of human, mouse, rat ALYREF using miScript Target Protectors
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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALYREF

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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 UniProtKB/Swiss-Prot
    THOC4_HUMAN, Q86V81: Nucleus. Nucleus speckle. Cytoplasm. Note=Colocalizes with the core EJC, ALYREF/THOC4, NXF1
    and DDX39B in the nucleus and nuclear speckles. Travels to the cytoplasm as part of the exon junction complex
    (EJC) bound to mRNA. Localizes to regions surrounding nuclear speckles known as perispeckles in which TREX
    complex assembly seems to occur

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000346transcription export complex IDA15833825
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0016607nuclear speck IEA--

    Find genes that share ontologies with ALYREF           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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    SuperPaths for ALYREF About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Glucokinase by Glucokinase Regulatory Protein
    Transport of the SLBP Dependant Mature mRNA0.92
    Transport of the SLBP independent Mature mRNA0.91
    Transport of Mature mRNAs Derived from Intronless Transcripts0.92
    Transport of Mature mRNA Derived from an Intronless Transcript0.91
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    3mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    4Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    5Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60


    Find genes that share SuperPaths with ALYREF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ALYREF
        Translational Control

    Selected Reactome Pathways for ALYREF (see all 7)
        Transport of the SLBP Dependant Mature mRNA
    mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    Transport of Mature mRNA Derived from an Intronless Transcript
    mRNA 3'-end processing


    4 Kegg Pathways  (Kegg details for ALYREF):
        RNA transport
    mRNA surveillance pathway
    Spliceosome
    Herpes simplex infection

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

        Search GeneGlobe Interaction Network for ALYREF

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

    Selected Interacting proteins for ALYREF (Q86V812, 3 ENSP000003318174) via UniProtKB, MINT, STRING, and/or I2D (see all 422)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NXF1Q9UBU92, 3, ENSP000002941724MINT-7234858 I2D: score=1 STRING: ENSP00000294172
    DDX39BQ138383, ENSP000003794754I2D: score=3 STRING: ENSP00000379475
    ENSG00000225073Q138383, ENSP000004003264I2D: score=3 STRING: ENSP00000400326
    ENSG00000215425Q138383I2D: score=3 
    ENSG00000225859Q138383I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000018regulation of DNA recombination IMP--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006406mRNA export from nucleus TAS--

    Find genes that share ontologies with ALYREF           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 ALYREF (THOC4)



    (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 ALYREF gene: 
    NM_005782.3  

    Unigene Cluster for ALYREF:

    Aly/REF export factor
    Hs.534385  [show with all ESTs]
    Unigene Representative Sequence: BU943861
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505490 ENST00000504015 ENST00000512673 ENST00000511412 ENST00000331204(uc002kbu.2)

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      QuantiFast Probe-based Assays in human, mouse, rat ALYREF

    Additional mRNA sequence: 

    AF047002.1 AF086513.1 BC052302.1 

    8 DOTS entries:

    DT.95304701  DT.113574  DT.100738694  DT.86849160  DT.92056696  DT.95158694  DT.100826159  DT.95158693 

    Selected AceView cDNA sequences (see all 123):

    BF512771 AF086513 BM766572 AI809223 BM782652 BM785773 AI523869 AI088790 
    AI343405 AI206071 AI243940 AI423863 AI378380 BM782350 AI085289 BF446070 
    AI285920 BQ919512 BU957767 AI934760 BU624466 BU538782 AW082296 AI824093 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
    SP1:                          -                                 
    SP2:                                                            
    SP3:                          -           -                     


    ECgene alternative splicing isoforms for ALYREF

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


    ALYREF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ALYREF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALYREF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534385
        Custom PCR Arrays for ALYREF
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALYREF

    (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 eukaryotes.

    Orthologs for ALYREF gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alyref5 Aly/REF export factor   --   11 (84.31 cM) 120592121 
    chicken
    (Gallus gallus)
    Aves ALYREF6
    Gallus gallus Aly/REF export factor (ALYREF), mRNA...
    83(a)
    1 ↔ 1
    18(10214965-10219808)
    lizard
    (Anolis carolinensis)
    Reptilia ALYREF6
    Aly/REF export factor
    80(a)
    1 ↔ 1
    2(118563537-118566808)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.209042 Xenopus laevis transcribed sequence with moderate similarity more 75.82(n)    CA972927.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb39h112 Transcribed sequence with weak similarity to protein more 79.24(n)    CK148094.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ref16
    Ref26
    RNA and export factor binding protein 2
    45(a)
    32(a)
    many → 1
    many → 1
    3R(2903618-2906126)
    2L(12610515-12646356)
    rice
    (Oryza sativa)
    Liliopsida AK068868.12   -- 71.78(n)    AK068868.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALYREF gene

    Find genes that share paralogs with ALYREF           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ALYREF
    PGOHUM00000233434 PGOHUM00000262546


    (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 ALYREF (see all 77)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1823148441,2
    --79845320(+) AGAAGA/GAAAGG 1 -- ds50010--------
    rs1866844911,2
    --79845366(+) TGGACA/GGCACA 1 -- ds50010--------
    rs1925760051,2
    --79845606(+) TGGGGA/CTGCTC 1 -- ds50010--------
    rs1858258361,2
    --79845818(+) AAAACA/CGGTCT 1 -- ut310--------
    rs1498528471,2
    C--79845941(+) CCACCA/GCCCCC 1 -- ut310--------
    rs1886893221,2
    C--79845947(+) CCCCCC/GAACCA 1 -- ut310--------
    rs1932024601,2
    C--79845954(+) ACCAGG/AGAGCA 1 -- ut311Minor allele frequency- A:0.01EU 425
    rs1458909261,2
    C--79845968(+) GGAGAC/TGCCTG 1 -- ut311Minor allele frequency- T:0.00EU 775
    rs3772016581,2
    C--79846035(+) CAGAGA/GAGAAA 1 -- int10--------
    rs2017887221,2
    C--79846043(+) AAAGAG/AGCTTG 1 -- int11Minor allele frequency- A:0.00EU 1067

    HapMap Linkage Disequilibrium report for ALYREF (79845711 - 79849462 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ALYREF: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALYREF
    DNA2.0 Custom Variant and Variant Library Synthesis for ALYREF

    (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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    OMIM gene information: 604171    OMIM disorders: --


    Find genes that share disorders with ALYREF           About GenesLikeMe


    Export disorders for ALYREF 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 ALYREF gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with ALYREF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Autoantibodies to transcriptional regulation proteins DEK and ALY in a patient with systemic lupus erythematosus. (PubMed id 9952027)1, 2, 9 Wichmann I.... Nunez-Roldan A. (Hum. Immunol. 1999)
    2. A human nuclear-localized chaperone that regulates dimerization, DNA binding, and transcriptional activity of bZIP proteins. (PubMed id 10488337)1, 2, 9 Virbasius C.-M.... Green M.R. (Mol. Cell 1999)
    3. Recruitment of the complete hTREX complex is required for Kaposi's sarcoma-associated herpesvirus intronless mRNA nuclear export and virus replication. (PubMed id 18974867)1, 2, 9 Boyne J.R.... Whitehouse A. (PLoS Pathog. 2008)
    4. Mapping interactions between mRNA export factors in living cells. (PubMed id 23826332)1, 2 Teng I.F. and Wilson S.A. (PLoS ONE 2013)
    5. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA. (PubMed id 23222130)1, 2 Chi B....Cheng H. (Nucleic Acids Res. 2013)
    6. Adaptor Aly and co-adaptor Thoc5 function in the Tap-p15-mediated nuclear export of HSP70 mRNA. (PubMed id 19165146)1, 2 Katahira J.... Yoneda Y. (EMBO J. 2009)
    7. Human mRNA export machinery recruited to the 5' end of mRNA. (PubMed id 17190602)1, 2 Cheng H.... Reed R. (Cell 2006)
    8. Linking transcriptional elongation and messenger RNA export to metastatic breast cancers. (PubMed id 15833825)1, 2 Guo S.... Shiekhattar R. (Cancer Res. 2005)
    9. Biochemical analysis of the EJC reveals two new factors and a stable tetrameric protein core. (PubMed id 16314458)1, 2 Tange T.O.... Moore M.J. (RNA 2005)
    10. Recruitment of the human TREX complex to mRNA during splicing. (PubMed id 15998806)1, 2 Masuda S.... Reed R. (Genes Dev. 2005)

    (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: 10189 HGNC: 19071 AceView: THOC4 Ensembl:ENSG00000183684 euGenes: HUgn10189
    ECgene: ALYREF Kegg: 10189 H-InvDB: ALYREF

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ALYREF 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 ALYREF gene:
    Search GeneIP for patents involving ALYREF

    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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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