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P41235 of Proteins NR C4-type domain repeats

Uniprot ID:P41235	Protein name: Hepatocyte nuclear factor 4-alpha	Gene : HNF4A HNF4 NR2A1 TCF14
Protein Family:"Nuclear hormone receptor family, NR2 subfamily"	Squence Length : 474

Sequnce	>P41235 475 MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI
NR C4-type domains repeats	ZN_FING 60 80 NR C4-type ZN_FING 96 120 NR C4-type
Domin repeated regions	60 - 80 CAICGDRATGKHYGASSCDGC 96 - 120 CRFSRQCVVDKDKRNQCRYCRLKKC
Function	"Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine"
Mutation	313 313 S->A: Abolishes AMPK-mediated phosphorylation 313 313 S->D: Phosphomimetic mutant that leads to reduced ability to bind DNA
Disease	"DISEASE: Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]: 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 Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own 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 Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry ; DISEASE: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026]: A disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia Note=The disease is caused by mutations affecting the gene represented in this entry"