Gene: BARX1

Basic information

Tag Content
Uniprot ID Q9HBU1; Q6P2R4; Q96GH8;
Entrez ID 56033
Genbank protein ID AAH09458.1; AAH64363.1; EAW62873.1; AAG23738.1;
Genbank nucleotide ID NM_021570.3
Ensembl protein ID ENSP00000253968; ENSP00000385613;
Ensembl nucleotide ID ENSG00000131668
Gene name Homeobox protein BarH-like 1
Gene symbol BARX1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter.
Sequence
MQRPGEPGAA RFGPPEGCAD HRPHRYRSFM IEEILTEPPG PKGAAPAAAA AAAGELLKFG 60
VQALLAARPF HSHLAVLKAE QAAVFKFPLA PLGCSGLSSA LLAAGPGLPG AAGAPHLPLE 120
LQLRGKLEAA GPGEPGTKAK KGRRSRTVFT ELQLMGLEKR FEKQKYLSTP DRIDLAESLG 180
LSQLQVKTWY QNRRMKWKKI VLQGGGLESP TKPKGRPKKN SIPTSEQLTE QERAKDAEKP 240
AEVPGEPSDR SRED 254

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function


GO:Biological Process


GO:Cellular Component


Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction