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SETD1A Gene

protein-coding   GIFtS: 59
GCID: GC16P030968

SET Domain Containing 1A

  See SETD1A-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SET Domain Containing 1A1 2     KIAA03393 5
Lysine N-Methyltransferase 2F2 3     SET13 5
Set1/Ash2 Histone Methyltransferase Complex Subunit SET12 3     SET1A3 5
KMT2F2 3     Set12
hSET1A2 3     Set1A2
SET Domain-Containing Protein 1A2 3     Histone-Lysine N-Methyltransferase SETD1A2
EC 2.1.1.433 8     

External Ids:    HGNC: 290101   Entrez Gene: 97392   Ensembl: ENSG000000993817   OMIM: 6110525   UniProtKB: O150473   

Export aliases for SETD1A gene to outside databases

Previous GC identifers: GC16P030877 GC16P030878 GC16P028531


(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 SETD1A Gene:
SET1A is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated
histone H3 at Lys4. The complex is the analog of the S. cerevisiae Set1/COMPASS complex (Lee and Skalnik, 2005
(PubMed 16253997)). Also see SET1B (MIM 611055).(supplied by OMIM, Mar 2008)

GeneCards Summary for SETD1A Gene:
SETD1A (SET domain containing 1A) is a protein-coding gene. Diseases associated with SETD1A include hemometra. GO annotations related to this gene include histone methyltransferase activity (H3-K4 specific) and RNA binding. An important paralog of this gene is KMT2D.

UniProtKB/Swiss-Prot: SET1A_HUMAN, O15047
Function: Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1
histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3
'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping
localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic
control of chromatin structure and gene expression




(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_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SETD1A gene promoter:
         E2F-4   E2F-3a   E2F-5   HTF   CUTL1   E2F-2   MZF-1   E2F   E2F-1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETD1A promoter sequence
   Search Chromatin IP Primers for SETD1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SETD1A


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

SETD1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETD1A gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030968:  view genomic region     (about GC identifiers)

Start:
30,968,615 bp from pter      End:
30,996,437 bp from pter
Size:
27,823 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: SET1A_HUMAN, O15047 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase SETD1A  
Size: 1707 amino acids; 186034 Da
Subunit: Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5,
WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1. Interacts with ASH2/ASH2L,
CXXC1/CFP1, WDR5 and RBBP5. Interacts (via the RRM domain) with WDR82. Interacts (via the RRM domain) with
hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of
WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad. Interacts with ZNF335.
Interacts with SUPT6H
Sequence caution: Sequence=AAH35795.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA20797.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for SETD1A:
3S8S (3D)        3UVN (3D)        4EWR (3D)    
Secondary accessions: A6NP62 Q6PIF3 Q8TAJ6

Explore the universe of human proteins at neXtProt for SETD1A: NX_O15047

Explore proteomics data for SETD1A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SETD1A (O15047) (see all 10)
     IGSSYLF  CGTESCR  PNCYAKV  ARFINHCC 


    See SETD1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055527.1  
    ENSEMBL proteins: 
     ENSP00000262519   ENSP00000391408  

    SETD1A Human Recombinant Protein Products:

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    antibodies-online antibodies for SETD1A (18 products) 

    SETD1A Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KMT: Chromatin-modifying enzymes / K-methyltransferases
    RBM: RNA binding motif (RRM) containing

    Selected InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR012677 Nucleotide-bd_a/b_plait
     IPR024657 COMPASS_Set1_N-SET
     IPR015722 Histone-lysine_MeTfrase

    Graphical View of Domain Structure for InterPro Entry O15047

    ProtoNet protein and cluster: O15047

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB001214 Nuclear protein SET


    UniProtKB/Swiss-Prot: SET1A_HUMAN, O15047
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: Contains 1 post-SET domain
    Similarity: Contains 1 RRM (RNA recognition motif) domain
    Similarity: Contains 1 SET domain


    Find genes that share domains with SETD1A           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SET1A_HUMAN, O15047
    Function: Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1
    histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3
    'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping
    localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic
    control of chromatin structure and gene expression
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI12670868
    GO:0018024histone-lysine N-methyltransferase activity ----
         
    Find genes that share ontologies with SETD1A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for SETD1A:
     Increased G1 DNA content 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Setd1a):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     skeleton 

    Find genes that share phenotypes with SETD1A           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SETD1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target SETD1A:
    hsa-mir-320a (MIRT044797), hsa-mir-361-5p (MIRT044067), hsa-mir-18a-3p (MIRT040819), hsa-let-7e-5p (MIRT051709), hsa-mir-760 (MIRT036712)

    Block miRNA regulation of human, mouse, rat SETD1A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETD1A (see all 28):
    hsa-miR-142-5p hsa-miR-1914* hsa-let-7a-2* hsa-miR-340 hsa-miR-3692 hsa-miR-23b* hsa-let-7g* hsa-miR-34b
    SwitchGear 3'UTR luciferase reporter plasmidSETD1A 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SETD1A

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    Addgene plasmids for SETD1A 

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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
    SET1A_HUMAN, O15047: Nucleus speckle. Chromosome. Note=Localizes to a largely non-overlapping set of euchromatic
    nuclear speckles with SETD1B, suggesting that SETD1A and SETD1B each bind to a unique set of target genes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005694chromosome IEA--
    GO:0005730NOT nucleolus IDA--
    GO:0016607nuclear speck IEA--
    GO:0035097histone methyltransferase complex IDA17355966

    Find genes that share ontologies with SETD1A           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 SETD1A About    
    See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation


    Find genes that share SuperPaths with SETD1A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SETD1A):
        Lysine degradation

        Pathway & Disease-focused RT2 Profiler PCR Array including SETD1A: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SETD1A

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

    Selected Interacting proteins for SETD1A (O150471, 3 ENSP000002625194) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCFC1P516101, 3, ENSP000003095554EBI-540779,EBI-396176 I2D: score=3 STRING: ENSP00000309555
    ASH2LQ9UBL33, ENSP000003408964I2D: score=1 STRING: ENSP00000340896
    CREBBPQ927933, ENSP000002623674I2D: score=1 STRING: ENSP00000262367
    CXXC1Q9P0U43, ENSP000003904754I2D: score=1 STRING: ENSP00000390475
    MYBP102423, ENSP000003399924I2D: score=1 STRING: ENSP00000339992
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0051568histone H3-K4 methylation IDA--

    Find genes that share ontologies with SETD1A           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 SETD1A (SET1A)

    2 HMDB Compounds for SETD1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (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 SETD1A gene: 
    NM_014712.1  

    Unigene Cluster for SETD1A:

    SET domain containing 1A
    Hs.297483  [show with all ESTs]
    Unigene Representative Sequence: NM_014712
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262519(uc002eae.1 uc002ead.1) ENST00000452917
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SETD1A (see all 28):
    hsa-miR-142-5p hsa-miR-1914* hsa-let-7a-2* hsa-miR-340 hsa-miR-3692 hsa-miR-23b* hsa-let-7g* hsa-miR-34b
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      QuantiFast Probe-based Assays in human, mouse, rat SETD1A

    Additional mRNA sequence: 

    AB002337.2 BC027450.1 BC035795.2 

    6 DOTS entries:

    DT.95162069  DT.97843351  DT.95273550  DT.91762705  DT.95094180  DT.100048179 

    Selected AceView cDNA sequences (see all 125):

    BM973083 BG912869 AB002337 BQ420749 BU944676 CK430507 BQ923219 BE302430 
    BE727774 CK429872 BE207359 BM679865 BQ073607 CD360042 BF591347 BE743024 
    BG752701 AL044881 AA860173 AI206377 BU181062 AI860292 BC027450 BE275805 

    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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    SETD1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTCCCCCT
    SETD1A Expression
    About this image


    SETD1A 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
    SETD1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SETD1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.297483
        Pathway & Disease-focused RT2 Profiler PCR Array including SETD1A: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD1A

    (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 SETD1A gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setd1a1 , 5 SET domain containing 1A1, 5 84.31(n)1
    89.81(a)1
      7 (69.73 cM)5
    2339041  NM_178029.31  NP_821172.21 
     1277766705 
    lizard
    (Anolis carolinensis)
    Reptilia SETD1A6
    SET domain containing 1A
    55(a)
    1 ↔ 1
    GL343220.1(1873149-1900528)
    zebrafish
    (Danio rerio)
    Actinopterygii setd1a6
    SET domain containing 1A
    38(a)
    1 ↔ 1
    3(32851133-32879554) ENSDARG00000060030
    fruit fly
    (Drosophila melanogaster)
    Insecta Set16
    --
    25(a)
    1 → many
    3LHet(593050-600636)
    worm
    (Caenorhabditis elegans)
    Secernentea set-26
    Protein SET-2, isoform a
    20(a)
    1 → many
    III(4922446-4930204) WBGene00004782
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SET1(YHR119W)4 Histone methyltransferase, subunit of the COMPASS (Set1C) more   --   8(346043-349285) 856519  NP_011987.1 
    rice
    (Oryza sativa)
    Liliopsida Os.88202 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 68.69(n)    AK068250.1 


    ENSEMBL Gene Tree for SETD1A (if available)
    TreeFam Gene Tree for SETD1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SETD1A gene
    KMT2D2  EZH12  SETD1B2  KMT2C2  KMT2A2  EZH22  ENSG000002723332  
    1 SIMAP similar gene for SETD1A using alignment to 3 protein entries:     SET1A_HUMAN (see all proteins):
    DKFZp686C08112

    Find genes that share paralogs with SETD1A           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 SETD1A (see all 689)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs579648601,2
    C--30971073(+) TTCTT-/CTT/CT
    TT
    /CTTTTT
    TTTTT
    3 -- int1 cds11NA 2
    rs769090041,2
    C--30971073(+) TTCTTC/TTTTTT 1 -- int10--------
    rs1884931381,2
    --31967766(+) CGGCTA/CACTGC 1 -- us2k10--------
    rs1921561401,2
    --31967776(+) CAAGCA/GCCGCC 1 -- us2k10--------
    rs1847860491,2
    --31967833(+) GATTAC/TAGGTG 1 -- us2k10--------
    rs1895246091,2
    --31967851(+) CCACGA/CTCGGC 1 -- us2k10--------
    rs1808028651,2
    --31967897(+) TTCACC/TGTGTT 1 -- us2k10--------
    rs2005314241,2
    --31968136(+) CCAGC-/TAAT  
            
    TAATT
    1 -- us2k10--------
    rs2010606891,2
    --31968139(+) GCTAA-/TTAAT 
            
    TTTTT
    1 -- us2k10--------
    rs340675801,2
    C--31968143(-) AAAAA-/ATTAAT 1 -- us2k11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for SETD1A (30968615 - 30996437 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SETD1A (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673466CNV Deletion23128226
    dgv35n68CNV Loss17160897
    nsv905738CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2671n71CNV Loss21882294
    nsv905739CNV Loss21882294
    esv33379CNV Loss17666407
    nsv905729CNV Loss21882294
    nsv905733CNV Loss21882294
    dgv2670n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SETD1A
    DNA2.0 Custom Variant and Variant Library Synthesis for SETD1A

    (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: 611052    OMIM disorders: --

    1 disease for SETD1A:    
    About MalaCards
    hemometra

    2 diseases from the University of Copenhagen DISEASES database for SETD1A:
    Hemometra     Anus neoplasm

    Find genes that share disorders with SETD1A           About GenesLikeMe

    Genetic Association Database (GAD): SETD1A
    Human Genome Epidemiology (HuGE) Navigator: SETD1A (1 document)

    Export disorders for SETD1A 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 SETD1A gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with SETD1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell- proliferation factor HCF-1. (PubMed id 12670868)1, 2, 3 Wysocka J.... Herr W. (Genes Dev. 2003)
    2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1997)
    3. CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. (PubMed id 16253997)1, 2, 9 Lee J.-H. and Skalnik D.G. (J. Biol. Chem. 2005)
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    5. Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (Mol. Cell. Biol. 2008)
    6. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (Mol. Cell. Biol. 2008)
    7. Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)1, 2 Lee J.-H.... Skalnik D.G. (J. Biol. Chem. 2007)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    9. 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)
    10. USF1 and hSET1A mediated epigenetic modifications regulate lineage differentiation and HoxB4 transcription. (PubMed id 23754954)1 Deng C....Huang S. (PLoS Genet. 2013)

    (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: 9739 HGNC: 29010 AceView: KIAA0339 Ensembl:ENSG00000099381 euGenes: HUgn9739
    ECgene: SETD1A Kegg: 9739 H-InvDB: SETD1A

    (According to HUGE)
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    HUGE: KIAA0339

    (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 SETD1A 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 SETD1A gene:
    Search GeneIP for patents involving SETD1A

    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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