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The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]
THAP11 (THAP Domain Containing 11) is a Protein Coding gene. Diseases associated with THAP11 include Disorders Of Intracellular Cobalamin Metabolism and Methylmalonic Acidemia And Homocysteinemia, Cblx Type. Gene Ontology (GO) annotations related to this gene include nucleic acid binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19008924 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 19008924 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA,IDA | 23306615 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19008924 |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | THAP11 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Thap11 30 |
|
||
Cow (Bos Taurus) |
Mammalia | THAP11 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | THAP11 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Thap11 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | THAP11 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | THAP11 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | THAP11 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | thap11 30 31 |
|
OneToOne | |
wufa14e04 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs188675529 | Likely Pathogenic: Mental retardation 3, X-linked | 67,842,794(+) |
C/G NM_020457.3(THAP11):c.240C>G (p.Phe80Leu) |
MISSENSE_VARIANT,INTRON | |
rs377516180 | Benign: not provided | 67,842,920(+) |
ACAG/A NM_020457.3(THAP11):c.367_369CAG[9] (p.Gln132del) |
INFRAME_DELETION,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
disorders of intracellular cobalamin metabolism |
|
|
methylmalonic acidemia and homocysteinemia, cblx type |
|
|