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This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]
BARX1 (BARX Homeobox 1) is a Protein Coding gene. Diseases associated with BARX1 include Hernia, Hiatus and Hypertrophic Pyloric Stenosis. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is BARX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | NAS | 10995576 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
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 | IBA | 21873635 |
GO:0007267 | cell-cell signaling | IEA | -- |
GO:0009888 | tissue development | IEA | -- |
GO:0009952 | anterior/posterior pattern specification | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BARX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BARX1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BARX1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Barx1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Barx1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BARX1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BARX1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BARX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BARX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100491751 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | barx1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs191789925 | - |
p.Ala48Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3621110 | CNV | gain | 21293372 |
nsv1113011 | CNV | deletion | 24896259 |
nsv509312 | CNV | insertion | 20534489 |
nsv824993 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hernia, hiatus |
|
|
hypertrophic pyloric stenosis |
|
|
syngnathia |
|
|
pyloric stenosis |
|
|
witkop syndrome |
|
|