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

Gene ID: 80854, updated on 16-Aug-2021

Summary

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
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
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

See SETD7 in Genome Data Viewer
Location:
4q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (139492974..139556219, complement)
105.20201022 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 glucose-fructose oxidoreductase domain containing 2 pseudogene Neighboring gene RAB33B antisense RNA 1 Neighboring gene RAB33B, member RAS oncogene family Neighboring gene ferritin heavy chain 1 pseudogene 24 Neighboring gene uncharacterized LOC105377451 Neighboring gene uncharacterized LOC105377622

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide and candidate gene association study of cigarette smoking behaviors.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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-lysine N-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables histone-lysine N-methyltransferase activity NAS
Non-traceable Author Statement
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 IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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
 

General protein information

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

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_001306199.2NP_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/Swiss-Prot
    Q8WTS6
    UniProtKB/TrEMBL
    D6RJA0
    Related
    ENSP00000427300.1, ENST00000506866.6
    Conserved Domains (1) summary
    smart00317
    Location:226303
    SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  2. NM_001306200.2NP_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:37123
    YwqK; Antitoxin component YwqK of the YwqJK toxin-antitoxin module [Defense mechanisms]
  3. NM_030648.4NP_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
    Q8WTS6
    Related
    ENSP00000274031.3, ENST00000274031.8
    Conserved Domains (2) summary
    COG2849
    Location:37134
    YwqK; Antitoxin component YwqK of the YwqJK toxin-antitoxin module [Defense mechanisms]
    cd10530
    Location:208337
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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