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    Nsd3 nuclear receptor binding SET domain protein 3 [ Mus musculus (house mouse) ]

    Gene ID: 234135, updated on 2-Oct-2018

    Summary

    Official Symbol
    Nsd3provided by MGI
    Official Full Name
    nuclear receptor binding SET domain protein 3provided by MGI
    Primary source
    MGI:MGI:2142581
    See related
    Ensembl:ENSMUSG00000054823 Vega:OTTMUSG00000032895
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    WHISTLE; Whsc1l1; AI528490; 6720429E03; A530023P05
    Summary
    This gene encodes a member of the SET domain family of histone lysine N-methyltransferase proteins. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. It acts in opposition to the histone demethylase Jmjd1c. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]
    Expression
    Ubiquitous expression in placenta adult (RPKM 8.2), CNS E18 (RPKM 5.3) and 28 other tissues See more
    Orthologs

    Genomic context

    See Nsd3 in Genome Data Viewer
    Location:
    8; 8 A2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (25601508..25719667)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (26712778..26830139)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene fibroblast growth factor receptor 1 Neighboring gene predicted gene 16159 Neighboring gene leucine zipper-EF-hand containing transmembrane protein 2 Neighboring gene phospholipid phosphatase 5 Neighboring gene DDHD domain containing 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    histone methyltransferase activity (H3-K27 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase activity (H3-K4 specific) IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone-lysine N-methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    histone H3-K27 methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methylation ISO
    Inferred from Sequence Orthology
    more info
     
    methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of histone H3-K36 trimethylation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase NSD3
    Names
    WHSC1-like protein 1
    nuclear SET domain-containing protein 3
    wolf-Hirschhorn syndrome candidate 1-like protein 1 homolog
    NP_001001735.1
    NP_001074738.1
    NP_001295410.1
    NP_001295411.1
    XP_017168165.1
    XP_017168166.1
    XP_017168167.1
    XP_017168168.1
    XP_017168169.1
    XP_017168170.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001001735.2NP_001001735.1  histone-lysine N-methyltransferase NSD3 isoform 1

      See identical proteins and their annotated locations for NP_001001735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC156990, BC064447
      Consensus CDS
      CCDS40305.1
      UniProtKB/Swiss-Prot
      Q6P2L6
      Related
      ENSMUSP00000115470.1, OTTMUSP00000043906, ENSMUST00000146919.7, OTTMUST00000081969
      Conserved Domains (1) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    2. NM_001081269.2NP_001074738.1  histone-lysine N-methyltransferase NSD3 isoform 2

      See identical proteins and their annotated locations for NP_001074738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a shorter 5' UTR, lacks the 3' terminal exon, and contains multiple alternate 3' exons, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AC156990
      Consensus CDS
      CCDS52528.1
      UniProtKB/TrEMBL
      D3Z357
      Related
      ENSMUSP00000081040.5, ENSMUST00000084026.11
      Conserved Domains (8) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:9681061
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:11041154
      AWS; associated with SET domains
      smart00317
      Location:11551278
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd15652
      Location:761807
      PHD2_NSD3; PHD finger 2 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15658
      Location:927962
      PHD4_NSD3; PHD finger 4 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15661
      Location:13321374
      PHD5_NSD3; PHD finger 5 found in nuclear SET domain-containing protein 3 (NSD3)
      cl22851
      Location:808860
      PHD_SF; PHD finger superfamily
    3. NM_001308481.1NP_001295410.1  histone-lysine N-methyltransferase NSD3 isoform 1

      See identical proteins and their annotated locations for NP_001295410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC156990, BB618167, BC064447
      Consensus CDS
      CCDS40305.1
      UniProtKB/Swiss-Prot
      Q6P2L6
      Related
      ENSMUSP00000117596.1, OTTMUSP00000043905, ENSMUST00000155861.7, OTTMUST00000081967
      Conserved Domains (1) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
    4. NM_001308482.1NP_001295411.1  histone-lysine N-methyltransferase NSD3 isoform 3

      See identical proteins and their annotated locations for NP_001295411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two 3' exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC156990, BC064447, BP766225
      Consensus CDS
      CCDS85518.1
      UniProtKB/Swiss-Prot
      Q6P2L6
      Related
      ENSMUSP00000147840.1, OTTMUSP00000077086, ENSMUST00000136107.8, OTTMUST00000081968
      Conserved Domains (1) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      25601508..25719667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312677.1XP_017168166.1  histone-lysine N-methyltransferase NSD3 isoform X1

      UniProtKB/TrEMBL
      D3Z357
      Conserved Domains (8) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:9681061
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:11041154
      AWS; associated with SET domains
      smart00317
      Location:11551278
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd15652
      Location:761807
      PHD2_NSD3; PHD finger 2 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15658
      Location:927962
      PHD4_NSD3; PHD finger 4 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15661
      Location:13321374
      PHD5_NSD3; PHD finger 5 found in nuclear SET domain-containing protein 3 (NSD3)
      cl22851
      Location:808860
      PHD_SF; PHD finger superfamily
    2. XM_017312676.1XP_017168165.1  histone-lysine N-methyltransferase NSD3 isoform X1

      UniProtKB/TrEMBL
      D3Z357
      Related
      ENSMUSP00000117778.1, OTTMUSP00000043907, ENSMUST00000142395.7, OTTMUST00000081971
      Conserved Domains (8) summary
      cd05837
      Location:277393
      MSH6_like; The PWWP domain is present in MSH6, a mismatch repair protein homologous to bacterial MutS. The PWWP domain of histone-lysine N-methyltransferase, also known as Nuclear SET domain-containing protein 3, is also included. Mutations in MSH6 have been ...
      cd05838
      Location:9681061
      WHSC1_related; The PWWP domain was first identified in the WHSC1 (Wolf-Hirschhorn syndrome candidate 1) protein, a protein implicated in Wolf-Hirschhorn syndrome (WHS). When translocated, WHSC1 plays a role in lymphoid multiple myeloma (MM) disease, also known as ...
      smart00570
      Location:11041154
      AWS; associated with SET domains
      smart00317
      Location:11551278
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd15652
      Location:761807
      PHD2_NSD3; PHD finger 2 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15658
      Location:927962
      PHD4_NSD3; PHD finger 4 found in nuclear SET domain-containing protein 3 (NSD3)
      cd15661
      Location:13321374
      PHD5_NSD3; PHD finger 5 found in nuclear SET domain-containing protein 3 (NSD3)
      cl22851
      Location:808860
      PHD_SF; PHD finger superfamily
    3. XM_017312678.1XP_017168167.1  histone-lysine N-methyltransferase NSD3 isoform X2

    4. XM_017312679.1XP_017168168.1  histone-lysine N-methyltransferase NSD3 isoform X3

    5. XM_017312680.1XP_017168169.1  histone-lysine N-methyltransferase NSD3 isoform X4

      UniProtKB/TrEMBL
      D3Z197
      Related
      ENSMUSP00000122096.1, OTTMUSP00000043908, ENSMUST00000139966.7, OTTMUST00000081972
    6. XM_017312681.1XP_017168170.1  histone-lysine N-methyltransferase NSD3 isoform X5

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