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

SETD1A Gene

protein-coding   GIFtS: 60
GCID: GC16P030968

SET Domain Containing 1A

  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

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

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 anus neoplasm, and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SETD1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15047

  • 4/10 DME Specific Peptides for SETD1A (O15047) (see all 10)
     IGSSYLF  CGTESCR  PNCYAKV  ARFINHCC 

    SETD1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SETD1A Protein Expression
    REFSEQ proteins: NP_055527.1  
    ENSEMBL proteins: 
     ENSP00000262519   ENSP00000391408  

    Human Recombinant Protein Products for SETD1A: 
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    Cloud-Clone Corp. Proteins for SETD1A 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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

    SETD1A for ontologies           About GeneDecksing



    SETD1A Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for SETD1A 

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    Cloud-Clone Corp. CLIAs for SETD1A


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

    5/6 InterPro protein domains (see all 6):
     IPR001214 SET_dom
     IPR003616 Post-SET_dom
     IPR024657 COMPASS_Set1_N-SET
     IPR015722 Histone-lysine_MeTfrase
     IPR000504 RRM_dom

    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


    SETD1A 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5 molecular function terms (GO ID links to tree view):    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:0042800histone methyltransferase activity (H3-K4 specific) IDA--
         
    SETD1A for ontologies           About GeneDecksing


    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 

    SETD1A for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SETD1A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SETD1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETD1A 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SETD1A 

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    SwitchGear 3'UTR luciferase reporter plasmidSETD1A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD1A


    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SETD1A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



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


    SETD1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETD1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/23 Interacting proteins for SETD1A (O150471, 3 ENSP000002625194) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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 (GO ID links to tree view):    About this table

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

    SETD1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for 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--

    Search CenterWatch for drugs/clinical trials and news about SETD1A / SET1A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/28 QIAGEN miScript miRNA Assays for microRNAs that regulate SETD1A (see all 28):
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    SwitchGear 3'UTR luciferase reporter plasmidSETD1A 3' UTR sequence
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    Additional mRNA sequence: 

    AB002337.2 BC027450.1 BC035795.2 

    6 DOTS entries:

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

    24/125 AceView cDNA sequences (see all 125):

    BU181062 AL044881 BE727774 BQ420749 BG912869 AI860292 CD360042 BG752701 
    AI206377 AB002337 BE207359 BQ073607 CK430507 CK429872 BF591347 AA860173 
    BM973083 BU944676 BM679865 BE302430 BQ923219 BE743024 BG820725 BE741362 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SETD1A expression in normal human tissues (normalized intensities)      SETD1A embryonic expression: see
    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 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Uterus
             uterus, pre-menopause ; glandular cells   

    See SETD1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETD1A

    SOURCE GeneReport for Unigene cluster: Hs.297483
        SABiosciences Expression via Pathway-Focused PCR Array including SETD1A: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SETD1A gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setd1a1 , 5 SET domain containing 1A1, 5 85.24(n)1
    91.11(a)1
      7 (69.73 cM)5
    2339041  NM_178029.31  NP_821172.21 
     1277766705 
    lizard
    (Anolis carolinensis)
    Reptilia SETD1A6
    Uncharacterized protein
    52(a)
    1 ↔ 1
    GL343220.1(1873149-1900528)
    zebrafish
    (Danio rerio)
    Actinopterygii setd1a1 SET domain containing 1A 55.23(n)
    50.56(a)
      556535  XM_001920817.3  XP_001920852.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Set16
    --
    21(a)
    1 → many
    3LHet(593050-600636)
    worm
    (Caenorhabditis elegans)
    Secernentea set-26
    Probable histone-lysine N-methyltransferase set-2
    21(a)
    1 → many
    III(4922871-4930206)
    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)
    About This Section
    Paralogs for SETD1A gene
    KMT2D2  SETD1B2  KMT2C2  KMT2A2  ENSG000002723332  
    1 SIMAP similar gene for SETD1A using alignment to 3 protein entries:     SET1A_HUMAN (see all proteins):
    DKFZp686C08112

    SETD1A 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/689 SNPs in SETD1A are shown (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) 10/11 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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611052    OMIM disorders: --

    4 diseases for SETD1A:    About MalaCards
    anus neoplasm    hemometra    herpes simplex    leukemia

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

    SETD1A for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for SETD1A gene, integrated from 9 sources (see all 47):
    (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. (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. (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. (2005)
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (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. (2008)
    6. Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (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. (2007)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (2004)
    10. USF1 and hSET1A mediated epigenetic modifications regu late lineage differentiation and HoxB4 transcription. (PubMed id 23754954)1 Deng C....Huang S. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9739 HGNC: 29010 AceView: KIAA0339 Ensembl:ENSG00000099381 euGenes: HUgn9739
    ECgene: SETD1A Kegg: 9739 H-InvDB: SETD1A

    (According to HUGE)
    About This Section
    HUGE: KIAA0339

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SETD1A Pharmacogenomics, SNPs, Pathways

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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