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    SETD7 SET domain containing lysine methyltransferase 7 [ Homo sapiens (human) ]

    Gene ID: 80854, updated on 9-Jul-2017
    Official Symbol
    SETD7provided by HGNC
    Official Full Name
    SET domain containing lysine methyltransferase 7provided by HGNC
    Primary source
    HGNC:HGNC:30412
    See related
    Ensembl:ENSG00000145391 MIM:606594; Vega:OTTHUMG00000133385
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KMT7; SET7; SET9; SET7/9
    Orthologs
    Location:
    4q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (139495934..139556769, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140427192..140477577, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene glucose-fructose oxidoreductase domain containing 2 pseudogene Neighboring gene uncharacterized LOC107984036 Neighboring gene RAB33B, member RAS oncogene family Neighboring gene ferritin heavy chain 1 pseudogene 24 Neighboring gene uncharacterized LOC105377451 Neighboring gene uncharacterized LOC105377622

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat is methylated at residue lysine 51 in its RNA-binding domain by SET7/9-KMT7 PubMed
    tat SET7/9-KMT7 binds directly to HIV-1 Tat and enhances recruitment of the Tat/P-TEFb complex to HIV-1 TAR RNA PubMed

    Go to the HIV-1, Human Interaction Database

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Histone Modifications, organism-specific biosystem (from WikiPathways)
      Histone Modifications, organism-specific biosystemHistones can undergo many post-translational modifications that are involved in transcription regulation. This pathway provides an overview of various modifications for histones H3 and H4 and the en...
    • Lysine degradation, organism-specific biosystem (from KEGG)
      Lysine degradation, organism-specific biosystem
      Lysine degradation
    • Lysine degradation, conserved biosystem (from KEGG)
      Lysine degradation, conserved biosystem
      Lysine degradation
    • PKMTs methylate histone lysines, organism-specific biosystem (from REACTOME)
      PKMTs methylate histone lysines, organism-specific biosystemLysine methyltransferases (KMTs) and arginine methyltransferases (RMTs) have a common mechanism of catalysis. Both families transfer a methyl group from a common donor, S-adenosyl-L-methionine (SAM),...
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21193, KIAA1717

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IEA
    Inferred from Electronic Annotation
    more info
     
    histone-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone-lysine N-methyltransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    histone-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    heterochromatin organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone lysine methylation IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-lysine dimethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-lysine monomethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of histone H3-K9 methylation IEA
    Inferred from Electronic Annotation
    more info
     
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    histone-lysine N-methyltransferase SETD7
    Names
    H3-K4-HMTase SETD7
    SET domain-containing protein 7
    histone H3-K4 methyltransferase SETD7
    histone H3-lysine 4-specific methyltransferase
    lysine N-methyltransferase 7
    NP_001293128.1
    NP_001293129.1
    NP_085151.1
    XP_016864150.1

    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_001306199.1NP_001293128.1  histone-lysine N-methyltransferase SETD7 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' terminal exon that results in a different 3' UTR and a novel 3' coding region compared to variant 1. It encodes isoform 2, which is shorter than and has a novel C-terminus compared to isoform 1.
      Source sequence(s)
      AB051504, AC114743, AI985614, AK310856, BC110904
      Consensus CDS
      CCDS77961.1
      UniProtKB/Swiss-Prot
      Q8WTS6
      UniProtKB/TrEMBL
      D6RJA0
      Related
      ENSP00000427300.1, OTTHUMP00000220049, ENST00000506866.6, OTTHUMT00000364537
      Conserved Domains (1) summary
      smart00317
      Location:226303
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    2. NM_001306200.1NP_001293129.1  histone-lysine N-methyltransferase SETD7 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, lacks exons in the 3' coding region, and has a 3' end that extends into an intron compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC110904
      Consensus CDS
      CCDS82956.1
      UniProtKB/TrEMBL
      B5MCZ8
      Related
      ENSP00000385913.3, OTTHUMP00000197533, ENST00000404104.7, OTTHUMT00000318413
      Conserved Domains (1) summary
      COG2849
      Location:37123
      YwqK; Antitoxin component YwqK of the YwqJK toxin-antitoxin module [Defense mechanisms]
    3. NM_030648.3NP_085151.1  histone-lysine N-methyltransferase SETD7 isoform 1

      See identical proteins and their annotated locations for NP_085151.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB051504, AC114743, AK024846, BC040990, BC110904, BM922680
      Consensus CDS
      CCDS3748.1
      UniProtKB/Swiss-Prot
      Q8WTS6
      Related
      ENSP00000274031.3, OTTHUMP00000164543, ENST00000274031.7, OTTHUMT00000257236
      Conserved Domains (1) summary
      smart00317
      Location:226342
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

    RNA

    1. NR_131339.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate internal exon, lacks alternate exons, and has a 3' end that extends into an intron compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC066361, BC110904

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      139495934..139556769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008661.1XP_016864150.1  histone-lysine N-methyltransferase SETD7 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      140394346..140455132 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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