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    Set1 SET domain containing 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 3354971, updated on 17-Dec-2024

    Summary

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    Official Symbol
    Set1provided by FlyBase
    Official Full Name
    SET domain containing 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0040022
    Locus tag
    Dmel_CG40351
    See related
    AllianceGenome:FB:FBgn0040022
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    aaf45425 Dm; CG17395; CG17396; CG40351; Dmel\CG40351; dSet-1; dset1; dSet1; dSET1; l(3)h5; l5; set1; SET1; SetD1; SETD1
    Summary
    Enables histone H3K4 trimethyltransferase activity. Located in euchromatin and polytene chromosome. Part of Set1C/COMPASS complex. Is expressed in spermatozoon. Used to study neurodevelopmental disorder with speech impairment and dysmorphic facies. Human ortholog(s) of this gene implicated in early-onset epilepsy 2 and neurodevelopmental disorder with speech impairment and dysmorphic facies. Orthologous to human SETD1A (SET domain containing 1A, histone lysine methyltransferase) and SETD1B (SET domain containing 1B, histone lysine methyltransferase). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Set1 in Genome Data Viewer
    Location:
    80F9-80F9; 3-47 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (25107594..25115180)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3LHet NW_001848857.1 (593050..600636)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR46483 Neighboring gene NADH dehydrogenase (ubiquinone) AGGG subunit Neighboring gene Ubiquinol-cytochrome c reductase 11 kDa subunit Neighboring gene Mediator complex subunit 21 Neighboring gene pseudo

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. Kummeling J, et al. Mol Psychiatry, 2021 Jun. PMID 32346159
    2. dBre1/dSet1-dependent pathway for histone H3K4 trimethylation has essential roles in controlling germline stem cell maintenance and germ cell differentiation in the Drosophila ovary. Xuan T, et al. Dev Biol, 2013 Jul 15. PMID 23624310
    3. Distinct Roles for COMPASS Core Subunits Set1, Trx, and Trr in the Epigenetic Regulation of Drosophila Heart Development. Zhu JY, et al. Int J Mol Sci, 2023 Dec 9. PMID 38139143, Free PMC Article
    4. The Drosophila histone methyltransferase SET1 coordinates multiple signaling pathways in regulating male germline stem cell maintenance and differentiation. Vidaurre V, et al. Development, 2024 Aug 1. PMID 39007366, Free PMC Article
    5. Enhancer malfunction in cancer. Herz HM, et al. Mol Cell, 2014 Mar 20. PMID 24656127, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Distinct Roles for COMPASS Core Subunits Set1, Trx, and Trr in the Epigenetic Regulation of Drosophila Heart Development.
      Title: Distinct Roles for COMPASS Core Subunits Set1, Trx, and Trr in the Epigenetic Regulation of Drosophila Heart Development.
    2. dBre1 interacts with dSet1 in controlling germline stem cells maintenance and germ cell differentiation.
      Title: dBre1/dSet1-dependent pathway for histone H3K4 trimethylation has essential roles in controlling germline stem cell maintenance and germ cell differentiation in the Drosophila ovary.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    • Annotated by Drosophila Heterochromatin Genome Project, Lawrence Berkeley National Lab, http://www.dhgp.org

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K4 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables histone H3K4 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables histone H3K4 trimethyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Set1C/COMPASS complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Set1C/COMPASS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Set1C/COMPASS complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in euchromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in polytene chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    SET domain containing 1
    Names
    CG40351-PA
    CG40351-PB
    CG40351-PC
    CG40351-PD
    CG40351-PE
    CG40351-PF
    CG40351-PG
    CG40351-PH
    CG40351-PI
    SET domain-containing 1
    Set1-PA
    Set1-PB
    Set1-PC
    Set1-PD
    Set1-PE
    Set1-PF
    Set1-PG
    Set1-PH
    Set1-PI
    lethal 5
    lethal5

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_037436.4 Reference assembly

      Range
      25107594..25115180
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170377.1 → NP_001163848.1  SET domain containing 1, isoform F [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163848.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    2. NM_001110936.3 → NP_001104406.1  SET domain containing 1, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001104406.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    3. NM_001015222.3 → NP_001015222.1  SET domain containing 1, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001015222.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    4. NM_001170375.2 → NP_001163846.1  SET domain containing 1, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163846.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    5. NM_001170376.2 → NP_001163847.1  SET domain containing 1, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163847.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    6. NM_001170380.2 → NP_001163851.1  SET domain containing 1, isoform I [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163851.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    7. NM_001015221.3 → NP_001015221.1  SET domain containing 1, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001015221.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    8. NM_001170378.1 → NP_001163849.1  SET domain containing 1, isoform G [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163849.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term

    9. NM_001170379.1 → NP_001163850.1  SET domain containing 1, isoform H [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001163850.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      M9WDY6, Q4V706, Q5LJZ2, Q8SXR9
      Conserved Domains (6) summary
      smart00317
      Location:1504 → 1625
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      COG2940
      Location:1463 → 1641
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      cd12304
      Location:99 → 191
      RRM_Set1; RNA recognition motif in the Set1-like family of histone-lysine N-methyltransferases
      pfam08648
      Location:255 → 380
      DUF1777; Protein of unknown function (DUF1777)
      pfam11764
      Location:1341 → 1492
      N-SET; COMPASS (Complex proteins associated with Set1p) component N
      pfam12871
      Location:318 → 388
      PRP38_assoc; Pre-mRNA-splicing factor 38-associated hydrophilic C-term
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5LJZ2.1 Q5LJZ2

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