HNF4A_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
HNF4A
, HNF4, NR2A1, TCF14
Protein names and data:
HNF4A_HUMAN
, Hepatocyte nuclear factor 4-alpha; HNF-4-alpha
, Nuclear receptor subfamily 2 group A member 1; Transcription factor 14; TCF-14; Transcription factor HNF-4
Lenght: 474 a.a.
Mass: 52785 Da
fasta formatted sequence
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.
Disease:
( OMIM:
125850
125853
600281
606391
)
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. 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.
Cellular location:
Nucleus.
Genetic variants
136 - 136
R -> W (in MODY1; dbSNP:rs137853336). VAR_004668
137853336
139 - 139
T -> I (in dbSNP:rs1800961). VAR_004669
1800961
264 - 264
V -> M (rare polymorphism found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity; dbSNP:rs139779712). VAR_010600
139779712
285 - 285
E -> Q (in MODY1; results in loss of function). VAR_010601
402 - 402
V -> I (in NIDDM; reduced transactivation activity; dbSNP:rs137853337). VAR_004670
137853337
445 - 445
P -> S (in dbSNP:rs1063239). VAR_011785
1063239
453 - 453
V -> I. VAR_062267
Database cross-references
UniProt:
P41235
Ensembl:
ENST00000316099
Ensembl:
ENST00000316673
Ensembl:
ENST00000415691
Ensembl:
ENST00000443598
Ensembl:
ENST00000457232
MIM:
125850
MIM:
125853
MIM:
600281
MIM:
606391
neXtProt:
NX_P41235
Antibodypedia:
P41235
(may not find the protein thus also not any antibody)
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