Gene id |
79918 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
SETD6 Gene UCSC Ensembl |
Gene name |
SET domain containing 6, protein lysine methyltransferase |
Alternate names |
N-lysine methyltransferase SETD6, SET domain containing 6, SET domain-containing protein 6, |
Gene location |
16q21 (58515478: 58523841) Exons: 8 NC_000016.10
|
Gene summary(Entrez) |
This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor s
|
OMIM |
616424 |
Protein Summary
|
Protein general information
| Q8TBK2
Name: N lysine methyltransferase SETD6 (EC 2.1.1. ) (SET domain containing protein 6)
Length: 473 Mass: 53189
|
Sequence |
MATQAKRPRVAGPVDGGDLDPVACFLSWCRRVGLELSPKVSERAGGRRTRGGARAALTSPPAQVAVSRQGTVAGY GMVARESVQAGELLFVVPRAALLSQHTCSIGGLLERERVALQSQSGWVPLLLALLHELQAPASRWRPYFALWPEL GRLEHPMFWPEEERRCLLQGTGVPEAVEKDLANIRSEYQSIVLPFMEAHPDLFSLRVRSLELYHQLVALVMAYSF QEPLEEEEDEKEPNSPVMVPAADILNHLANHNANLEYSANCLRMVATQPIPKGHEIFNTYGQMANWQLIHMYGFV EPYPDNTDDTADIQMVTVREAALQGTKTEAERHLVYERWDFLCKLEMVGEEGAFVIGREEVLTEEELTTTLKVLC MPAEEFRELKDQDGGGDDKREEGSLTITNIPKLKASWRQLLQNSVLLTLQTYATDLKTDQGLLSNKEVYAKLSWR EQQALQVRYGQKMILHQLLELTS
|
Structural information |
|
Other Databases |
GeneCards: SETD6 Malacards: SETD6 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0005634 |
nucleus
|
IBA |
cellular component |
GO:0032088 |
negative regulation of NF -kappaB transcription fac tor activity
|
IBA |
biological process |
GO:0051059 |
NF-kappaB binding
|
IBA |
molecular function |
GO:0016279 |
protein-lysine N-methyltr ansferase activity
|
IBA |
molecular function |
GO:0018026 |
peptidyl-lysine monomethy lation
|
IBA |
biological process |
GO:0050727 |
regulation of inflammator y response
|
IBA |
biological process |
GO:0018026 |
peptidyl-lysine monomethy lation
|
IDA |
biological process |
GO:0016279 |
protein-lysine N-methyltr ansferase activity
|
IDA |
molecular function |
GO:0016279 |
protein-lysine N-methyltr ansferase activity
|
IDA |
molecular function |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0034968 |
histone lysine methylatio n
|
IDA |
biological process |
GO:0050727 |
regulation of inflammator y response
|
IMP |
biological process |
GO:0048863 |
stem cell differentiation
|
ISS |
biological process |
GO:0051059 |
NF-kappaB binding
|
IPI |
molecular function |
GO:0032088 |
negative regulation of NF -kappaB transcription fac tor activity
|
IMP |
biological process |
GO:0019827 |
stem cell population main tenance
|
ISS |
biological process |
GO:0016279 |
protein-lysine N-methyltr ansferase activity
|
IEA |
molecular function |
GO:0018026 |
peptidyl-lysine monomethy lation
|
IEA |
biological process |
GO:0032259 |
methylation
|
IEA |
biological process |
GO:0016740 |
transferase activity
|
IEA |
molecular function |
GO:0008168 |
methyltransferase activit y
|
IEA |
molecular function |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005654 |
nucleoplasm
|
TAS |
cellular component |
GO:0016279 |
protein-lysine N-methyltr ansferase activity
|
TAS |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0048863 |
stem cell differentiation
|
IEA |
biological process |
GO:0019827 |
stem cell population main tenance
|
IEA |
biological process |
GO:0005634 |
nucleus
|
IEA |
cellular component |
GO:0005654 |
nucleoplasm
|
IDA |
cellular component |
GO:0005829 |
cytosol
|
IDA |
cellular component |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Teratozoospermia | MIK: 17327269 |
Unexplained infertility | MIK: 25753583 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
25753583 |
Unexplaine d infertil ity
|
|
|
46 (17 fertile men, 29 male pa tients)
|
Male infertility |
Microarray
|
Show abstract |
|