Gene id |
124512 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
METTL23 Gene UCSC Ensembl |
Aliases |
C17orf95, MRT44 |
Gene name |
methyltransferase like 23 |
Alternate names |
methyltransferase-like protein 23, spike binding protein 1, |
Gene location |
17q25.1 (76726040: 76733880) Exons: 7 NC_000017.11
|
Gene summary(Entrez) |
The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autos
|
OMIM |
615262 |
Protein Summary
|
Protein general information
| Q86XA0
Name: Methyltransferase like protein 23 (EC 2.1.1. )
Length: 190 Mass: 21469
|
Sequence |
MYVWPCAVVLAQYLWFHRRSLPGKAILEIGAGVSLPGILAAKCGAEVILSDSSELPHCLEVCRQSCQMNNLPHLQ VVGLTWGHISWDLLALPPQDIILASDVFFEPEDFEDILATIYFLMHKNPKVQLWSTYQVRSADWSLEALLYKWDM KCVHIPLESFDADKEDIAESTLPGRHTVEMLVISFAKDSL
|
Structural information |
|
Other Databases |
GeneCards: METTL23  Malacards: METTL23 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0032259 |
methylation
|
IBA |
biological process |
GO:0005634 |
nucleus
|
IBA |
cellular component |
GO:0005737 |
cytoplasm
|
IBA |
cellular component |
GO:0008168 |
methyltransferase activit y
|
IBA |
molecular function |
GO:0032259 |
methylation
|
IEA |
biological process |
GO:0016740 |
transferase activity
|
IEA |
molecular function |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0008168 |
methyltransferase activit y
|
IEA |
molecular function |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IEA |
cellular component |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0005737 |
cytoplasm
|
IDA |
cellular component |
GO:0005634 |
nucleus
|
IDA |
cellular component |
GO:0032991 |
protein-containing comple x
|
IDA |
cellular component |
GO:0031072 |
heat shock protein bindin g
|
IPI |
molecular function |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0045944 |
positive regulation of tr anscription by RNA polyme rase II
|
IMP |
biological process |
GO:0008134 |
transcription factor bind ing
|
IPI |
molecular function |
GO:0050890 |
cognition
|
IMP |
biological process |
GO:0005515 |
protein binding
|
IPI |
molecular function |
GO:0031072 |
heat shock protein bindin g
|
IPI |
molecular function |
|
|
Associated diseases |
References |
Autosomal recessive mental retardation | KEGG:H00768 |
Autosomal recessive mental retardation | KEGG:H00768 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|