Barx homeobox 1

BARX homeobox 1 is a protein that in humans is encoded by the BARX1 gene.

BARX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2DMT
Identifiers
Aliases	BARX1, BARX homeobox 1
External IDs	OMIM: 603260; MGI: 103124; HomoloGene: 7241; GeneCards: BARX1; OMA:BARX1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) Band 9q22.32 Start 93,951,627 bp End 93,955,355 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 A5|13 24.9 cM Start 48,816,474 bp End 48,819,983 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa body of stomach fundus gonad cartilage tissue periodontal fiber pylorus cardia left testis right testis Top expressed in mandibular prominence internal carotid artery maxillary prominence molar desmocranium urethra stomach male urethra Jacobson's organ embryo More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process regulation of transcription by RNA polymerase II cell-cell signaling negative regulation of Wnt signaling pathway regulation of transcription, DNA-templated epithelial cell differentiation spleen development transcription, DNA-templated anterior/posterior pattern specification nervous system development anatomical structure development positive regulation of transcription by RNA polymerase II animal organ development digestive system development transcription by RNA polymerase II tissue development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 56033 12022 Ensembl ENSG00000131668 ENSMUSG00000021381 UniProt Q9HBU1 Q9ER42 RefSeq (mRNA) NM_021570 NM_007526 RefSeq (protein) NP_067545 NP_031552 Location (UCSC) Chr 9: 93.95 – 93.96 Mb Chr 13: 48.82 – 48.82 Mb PubMed search
Wikidata
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Function

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].

Further reading

• Lowry RB, Gould DB, Walter MA, Savage PR (June 2007). "Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up". Am. J. Med. Genet. A. 143A (11): 1227–30. doi:10.1002/ajmg.a.31732. PMID 17486624. S2CID 44935786.
• Krivicka-Uzkurele B, Pilmane M, Akota I (2008). "Barx1, growth factors and apoptosis in facial tissue of children with clefts". Stomatologija. 10 (2): 62–6. PMID 18708738.
• Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML (September 2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genet. Med. 10 (9): 668–74. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.
• Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, Christiansen L, Lidral AC, Murray JC (July 2010). "Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia". PLOS ONE. 5 (7): e11493. Bibcode:2010PLoSO...511493J. doi:10.1371/journal.pone.0011493. PMC 2901336. PMID 20634891.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.