O43316
uniprot
O43316
canonical
amino_acid_sequence
MHQDGISSMNQLGGLFVNGRPLPLDTRQQIVRLAVSGMRPCDISRILKVSNGCVSKILGRYYRTGVLEPKGIGGSKPRLATPPVVARIAQLKGECPALFAWEIQRQLCAEGLCTQDKTPSVSSINRVLRALQEDQGLPCTRLRSPAVLAPAVLTPHSGSETPRGTHPGTGHRNRTIFSPSQAEALEKEFQRGQYPDSVARGKLATATSLPEDTVRVWFSNRRAKWRRQEKLKWEMQLPGASQGLTVPRVAPGIISAQQSPGSVPTAALPALEPLGPSCYQLCWATAPERCLSDTPPKACLKPCWDCGSFLLPVIAPSCVDVAWPCLDASLAHHLIGGAGKATPTHFSHWP
uniprot
proteins
disease_involvement
DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:11723072}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Diabetes mellitus, ketosis-prone (KPD) [MIM:612227]: An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding. {ECO:0000269|PubMed:15509590}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Maturity-onset diabetes of the young 9 (MODY9) [MIM:612225]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269|PubMed:17426099}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA-binding transcription factor that plays a central role in the differentiation and development of type B pancreatic cells, which are located within the pancreatic islets of Langerhans responsible for the production and release of insulin (By similarity). Mainly acts as a transcription repressor that binds to a common element in the glucagon, insulin and somatostatin promoters and inhibits their expression (By similarity). Prevents differentiation of type A pancreatic cells, probably by repressing expression of ARX (By similarity). Competes with another transcription factor, PAX6, for this same promoter binding site (By similarity). Also plays a key role in intestinal enteroendocrine cell differentiation by (1) directly promoting differentiation of enterochromaffin cells and (2) preventing differentiation of other intestinal enteroendocrine cell types (PubMed:37883554). Prevents differentiation of other intestinal enteroendocrine cell types by repressing the expression of ARX, the master transcription factor for intestinal type-L, -N, -D, -I and -G enteroendocrine cell differentiation (PubMed:37883554). {ECO:0000250|UniProtKB:P32115, ECO:0000269|PubMed:37883554}.; FUNCTION: [Isoform 2]: Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity. {ECO:0000269|PubMed:11263967}.
uniprot
proteins
mass_dalton
37833
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11263967
uniprot
proteins
pubmed
11723072
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15509590
uniprot
proteins
pubmed
15834548
uniprot
proteins
pubmed
17426099
uniprot
proteins
pubmed
37883554
uniprot
proteins
pubmed
9439631
uniprot
proteins
pubmed
9753306
uniprot
proteins
sequence_length
350
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P32115}. Chromosome {ECO:0000250|UniProtKB:P32115}.
uniprot
proteins