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MLLT1 (MLLT1 Super Elongation Complex Subunit) is a Protein Coding gene. Diseases associated with MLLT1 include Testicular Disease and Borderline Leprosy. Among its related pathways are Tat-mediated elongation of the HIV-1 transcript and Transcriptional misregulation in cancer. An important paralog of this gene is MLLT3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | TAS | 7991593 |
GO:0005515 | protein binding | IPI | 20153263 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | TAS | 8080983 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0008023 | transcription elongation factor complex | IDA | 22195968 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Tat-mediated elongation of the HIV-1 transcript | ||
2 | Chromatin Regulation / Acetylation | ||
3 | Transcriptional misregulation in cancer | ||
4 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | TAS | -- |
GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
GO:0006469 | negative regulation of protein kinase activity | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MLLT1 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | MLLT1 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | MLLT1 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Mllt1 32 |
|
||
mouse (Mus musculus) |
Mammalia | Mllt1 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | MLLT1 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | MLLT1 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | MLLT1 33 32 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | mllt1 32 |
|
||
Str.6223 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | mllt1 33 32 |
|
OneToMany | |
MLLT1 (1 of 2) 33 |
|
OneToMany | |||
Dr.29084 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | ear 33 34 |
|
OneToMany | |
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2675 33 |
|
OneToMany |
SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs749203329 | likely-pathogenic, Abnormal cortical gyration, Cerebral atrophy, Global developmental delay, Hypertelorism, Infantile spasms, Muscular hypotonia, Short nose | 6,213,787(-) | C/T | coding_sequence_variant, missense_variant | |
rs1000040978 | -- | 6,228,172(-) | G/A | intron_variant | |
rs1000046459 | -- | 6,261,392(-) | G/T | intron_variant | |
rs1000072322 | -- | 6,267,127(-) | A/T | intron_variant | |
rs1000178917 | -- | 6,240,711(-) | C/T | intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2662795 | CNV | deletion | 23128226 |
esv2666707 | CNV | deletion | 23128226 |
esv2718063 | CNV | deletion | 23290073 |
esv2718064 | CNV | deletion | 23290073 |
esv3643548 | CNV | loss | 21293372 |
esv3643549 | CNV | loss | 21293372 |
esv991625 | CNV | deletion | 20482838 |
nsv1055913 | CNV | gain | 25217958 |
nsv1059525 | CNV | gain | 25217958 |
nsv1134748 | CNV | deletion | 24896259 |
nsv2396 | CNV | insertion | 18451855 |
nsv953953 | CNV | deletion | 24416366 |
nsv953954 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
testicular disease |
|
|
borderline leprosy |
|
|
indeterminate leprosy |
|
|
leprosy 3 |
|
|
childhood leukemia |
|
|