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This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
AKNAD1 (AKNA Domain Containing 1) is a Protein Coding gene. Diseases associated with AKNAD1 include Autism and Autosomal Recessive Congenital Ichthyosis. An important paralog of this gene is AKNA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0005515 | protein binding | IPI | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001837 | epithelial to mesenchymal transition | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 17b | ^ | 18 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AKNAD1 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | AKNAD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AKNAD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Aknad1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Aknad1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | AKNAD1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | AKNAD1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Zebrafish (Danio rerio) |
Actinopterygii | AKNAD1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11580913 | - |
p.Leu352Val |
|||
rs12060255 | - |
p.Gly582Val |
|||
rs1277207 | - |
p.Ser61Asn |
|||
rs17621411 | - |
p.Ala104Val |
|||
rs17852793 | - |
p.Glu167Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv488n54 | CNV | loss | 21841781 |
dgv489n54 | CNV | loss | 21841781 |
dgv63n67 | CNV | loss | 20364138 |
esv2421353 | CNV | deletion | 20811451 |
esv26096 | CNV | loss | 19812545 |
esv2670634 | CNV | deletion | 23128226 |
esv2715929 | CNV | deletion | 23290073 |
esv3567215 | CNV | deletion | 23714750 |
esv3587138 | CNV | loss | 21293372 |
esv3587139 | CNV | gain | 21293372 |
esv3587140 | CNV | gain | 21293372 |
esv7631 | CNV | loss | 19470904 |
nsv1013192 | CNV | gain | 25217958 |
nsv2287 | CNV | deletion | 18451855 |
nsv463106 | CNV | loss | 19166990 |
nsv463117 | CNV | loss | 19166990 |
nsv517381 | CNV | loss | 19592680 |
nsv521427 | CNV | loss | 19592680 |
nsv526819 | CNV | loss | 19592680 |
nsv547416 | CNV | loss | 21841781 |
nsv818322 | CNV | loss | 17921354 |
nsv823943 | CNV | loss | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autism |
|
|
autosomal recessive congenital ichthyosis |
|
|