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This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
KANSL1 (KAT8 Regulatory NSL Complex Subunit 1) is a Protein Coding gene. Diseases associated with KANSL1 include Koolen-De Vries Syndrome and Koolen-De Vries Syndrome Due To A Point Mutation. Among its related pathways are Chromatin organization and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is KANSL1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 15960975 |
GO:0035035 | histone acetyltransferase binding | IBA | 21873635 |
GO:0043995 | histone acetyltransferase activity (H4-K5 specific) | IBA | -- |
GO:0043996 | histone acetyltransferase activity (H4-K8 specific) | IBA | -- |
GO:0046972 | histone acetyltransferase activity (H4-K16 specific) | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000123 | histone acetyltransferase complex | IEA,IDA | 20018852 |
GO:0000775 | chromosome, centromeric region | IEA | -- |
GO:0000776 | kinetochore | IEA | -- |
GO:0000777 | condensed chromosome kinetochore | IEA | -- |
GO:0005634 | nucleus | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Pathways Affected in Adenoid Cystic Carcinoma |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0043981 | histone H4-K5 acetylation | IDA | 20018852 |
GO:0043982 | histone H4-K8 acetylation | IDA | 20018852 |
GO:0043984 | histone H4-K16 acetylation | IDA | 20018852 |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KANSL1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KANSL1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KANSL1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kansl1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kansl1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KANSL1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KANSL1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KANSL1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KANSL1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485168 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2848 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC567884 30 |
|
||
kansl1b 31 |
|
OneToMany | |||
kansl1a 31 |
|
OneToMany | |||
KANSL1 (1 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | wah 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
323715 | Benign: Syndromic intellectual disability; MAPT-Related Spectrum Disorders | 46,027,249(-) |
G/. NM_005910.5(MAPT):c.*3079= |
NO_SEQUENCE_ALTERATION | |
803431 | Benign: Koolen-de Vries syndrome | 46,067,627(-) |
G/. NM_015443.4(KANSL1):c.1574= (p.Pro525=) |
NO_SEQUENCE_ALTERATION | |
833548 | Likely Benign: Koolen-de Vries syndrome | 46,039,111(-) |
G/A NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys) |
MISSENSE | |
833689 | Likely Benign: Koolen-de Vries syndrome | 46,171,202(-) |
C/G NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp) |
MISSENSE | |
833691 | Likely Benign: Koolen-de Vries syndrome | 46,170,864(-) |
T/C NM_015443.4(KANSL1):c.1280A>G (p.His427Arg) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
koolen-de vries syndrome |
|
|
koolen-de vries syndrome due to a point mutation |
|
|
disease of mental health |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
chromosome 17q21.31 duplication syndrome |
|
|