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

Gene ID: 80854, updated on 14-Nov-2024

Summary

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Official Symbol
SETD7provided by HGNC
Official Full Name
SET domain containing 7, histone lysine methyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:30412
See related
Ensembl:ENSG00000145391 MIM:606594; AllianceGenome:HGNC:30412
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
Summary
Enables histone H3 methyltransferase activity; p53 binding activity; and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine dimethylation and peptidyl-lysine monomethylation. Acts upstream of or within DNA damage response and heterochromatin organization. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 22.9), prostate (RPKM 16.7) and 24 other tissues See more
Orthologs
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Genomic context

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See SETD7 in Genome Data Viewer
Location:
4q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (139492974..139556219, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (142812640..142875826, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (140414128..140477373, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA ACA64 Neighboring gene RAB33B, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21925 Neighboring gene RAB33B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15701 Neighboring gene Sharpr-MPRA regulatory region 15265 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21926 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:140469419-140469605 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:140472251-140472751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21927 Neighboring gene ferritin heavy chain 1 pseudogene 24 Neighboring gene uncharacterized LOC105377451 Neighboring gene uncharacterized LOC105377622

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SETD7 Promotes Cell Proliferation and Migration via Methylation-mediated TAF7 in Clear Cell Renal Cell Carcinoma.
    Title: SETD7 Promotes Cell Proliferation and Migration via Methylation-mediated TAF7 in Clear Cell Renal Cell Carcinoma.
  2. Epigenetic mechanism of SET7/9-mediated histone methylation modification in high glucose-induced ferroptosis in retinal pigment epithelial cells.
    Title: Epigenetic mechanism of SET7/9-mediated histone methylation modification in high glucose-induced ferroptosis in retinal pigment epithelial cells.
  3. ZKSCAN5 activates LAPTM5 expression by recruiting SETD7 to promote metastasis in pancreatic ductal adenocarcinoma.
    Title: ZKSCAN5 activates LAPTM5 expression by recruiting SETD7 to promote metastasis in pancreatic ductal adenocarcinoma.
  4. Combined SET7/9 and CDK4 inhibition act synergistically against osteosarcoma.
    Title: Combined SET7/9 and CDK4 inhibition act synergistically against osteosarcoma.
  5. Methyltransferase Set7/9 controls PARP1 expression and regulates cisplatin response of breast cancer cells.
    Title: Methyltransferase Set7/9 controls PARP1 expression and regulates cisplatin response of breast cancer cells.
  6. SET7/9-mediated methylation affects oncogenic functions of histone demethylase JMJD2A.
    Title: SET7/9-mediated methylation affects oncogenic functions of histone demethylase JMJD2A.
  7. Methylation of KRAS by SETD7 promotes KRAS degradation in non-small cell lung cancer.
    Title: Methylation of KRAS by SETD7 promotes KRAS degradation in non-small cell lung cancer.
  8. Lysine N-methyltransferase SETD7 promotes bladder cancer progression and immune escape via STAT3/PD-L1 cascade.
    Title: Lysine N-methyltransferase SETD7 promotes bladder cancer progression and immune escape via STAT3/PD-L1 cascade.
  9. SETD7 functions as a transcription repressor in prostate cancer via methylating FOXA1.
    Title: SETD7 functions as a transcription repressor in prostate cancer via methylating FOXA1.
  10. SET7 methylates the deubiquitinase OTUB1 at Lys [122] to impair its binding to E2 enzyme UBC13 and relieve its suppressive role on ferroptosis.
    Title: SET7 methylates the deubiquitinase OTUB1 at Lys (122) to impair its binding to E2 enzyme UBC13 and relieve its suppressive role on ferroptosis.
Submit: New GeneRIF Correction See all GeneRIFs (92)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat is monomethylated at lysine 71 by SETD7 (KMT7) in HEK293T and Jurkat A2 cell lines PubMed
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21193, KIAA1717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
  
enables histone H3 methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables histone H3 methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone H3K4 monomethyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables histone methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables p53 binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-lysine N-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chromatin organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in chromatin remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in heterochromatin organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within heterochromatin organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-lysine dimethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptidyl-lysine monomethylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in chromosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in chromosome IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
histone-lysine N-methyltransferase SETD7
Names
H3-K4-HMTase SETD7
SET domain containing 7, lysine methyltransferase
SET domain containing lysine methyltransferase 7
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
XP_054206895.1

NCBI Reference Sequences (RefSeq)

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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_001306199.2 → NP_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)
    AC114743, AI985614, AK310856
    Consensus CDS
    CCDS77961.1
    UniProtKB/TrEMBL
    D6RJA0
    Related
    ENSP00000427300.1, ENST00000506866.6
    Conserved Domains (1) summary
    smart00317
    Location:226 → 303
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain

  2. NM_001306200.2 → NP_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)
    AC114743, BC110904
    Consensus CDS
    CCDS82956.1
    UniProtKB/TrEMBL
    B5MCZ8
    Related
    ENSP00000385913.3, ENST00000404104.7
    Conserved Domains (1) summary
    COG2849
    Location:37 → 123
    YwqK; Antitoxin component YwqK of the YwqJK toxin-antitoxin module [Defense mechanisms]

  3. NM_030648.4 → NP_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)
    AC112236, AC114743
    Consensus CDS
    CCDS3748.1
    UniProtKB/Swiss-Prot
    B5WWL3, Q0VAH3, Q4W5A9, Q8WTS6, Q9C0E6
    Related
    ENSP00000274031.3, ENST00000274031.8
    Conserved Domains (2) summary
    COG2849
    Location:37 → 134
    YwqK; Antitoxin component YwqK of the YwqJK toxin-antitoxin module [Defense mechanisms]
    cd10530
    Location:208 → 337
    SET_SETD7; SET domain found in SET domain-containing protein 7 (SETD7) and similar proteins

RNA

  1. NR_131339.2 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)
    AC114743, BC066361, BC110904
    Related
    ENST00000406354.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    139492974..139556219 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    142812640..142875826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350920.1 → XP_054206895.1  histone-lysine N-methyltransferase SETD7 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WTS6.1 GenPept UniProtKB/Swiss-Prot:Q8WTS6

Gene LinkOut

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