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Protein Page:
HNF1A (human)

Overview
HNF1A Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'- GTTAATNATTAAC-3'. Defects in HNF1A are a cause of hepatic adenomas familial (HEPAF). Hepatic adenomas are rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the developmant of some hepatocellular carcinomas. Defects in HNF1A are the cause of maturity-onset diabetes of the young type 3 (MODY3); also symbolized MODY-3. MODY is 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. Defects in HNF1A are the cause of susceptibility to diabetes mellitus insulin-dependent type 20 (IDDM20). IDDM20 is a multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical fetaures are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These features can result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Belongs to the HNF1 homeobox family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Cellular Component: protein complex; cytoplasm; nucleolus; nucleus
Molecular Function: protein dimerization activity; protein binding; protein homodimerization activity; DNA binding; sequence-specific DNA binding; protein heterodimerization activity; transcription factor activity
Biological Process: regulation of transcription from RNA polymerase II promoter; transcription, DNA-dependent; insulin secretion; positive regulation of transcription, DNA-dependent; glucose import; positive regulation of transcription from RNA polymerase II promoter; glucose homeostasis
Reference #:  P20823 (UniProtKB)
Alt. Names/Synonyms: albumin proximal factor; hepatic nuclear factor 1; Hepatocyte nuclear factor 1-alpha; HNF-1-alpha; HNF-1A; HNF1; HNF1 homeobox A; HNF1A; interferon production regulator factor; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor; LFB1; Liver-specific transcription factor LF-B1; MODY3; TCF-1; TCF1; Transcription factor 1; transcription factor 1, hepatic
Gene Symbols: HNF1A
Molecular weight: 67,356 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
CST Pathways:  Adherens Junction Dynamics  |  Wnt/├č-Catenin Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
Select Structure to View Below

HNF1A

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 2 T67-p LPNGLGEtRGsEDEt
0 8 S70-p GLGEtRGsEDEtDDD
0 12 T74-p tRGsEDEtDDDGEDF
0 2 T82-p DDDGEDFtPPILKEL
0 1 S93-p LKELENLsPEEAAHQ
1 4 S247-p ECIQRGVsPsQAQGL
2 1 S249-p IQRGVsPsQAQGLGS
0 1 S303 GPALPAHSSPGLPPP
0 1 S304 PALPAHSSPGLPPPA
0 2 A311 SPGLPPPALSPSKVH
0 2 S313 GLPPPALSPSKVHGV
0 1 S315 PPPALSPSKVHGVRY
  mouse

 
T67-p LPNGLGEtRGsEDDt
S70-p GLGEtRGsEDDtDDD
T74-p tRGsEDDtDDDGEDF
A82 DDDGEDFAPPILKEL
S93 LKELENLSPEEAAHQ
S247-p ECIQRGVsPSQAQGL
S249 IQRGVsPSQAQGLGS
S303-p GPALPAHssPGLPTT
S304-p PALPAHssPGLPTTt
T311-p sPGLPTTtLsPsKVH
S313-p GLPTTtLsPsKVHGV
S315-p PTTtLsPsKVHGVRY
  rat

 
T67 LPNGLGETRGSEDDt
S70 GLGETRGSEDDtDDD
T74-p TRGSEDDtDDDGEDF
A82 DDDGEDFAPPILKEL
S93 LKELENLSPEEAAHQ
S247-p ECIQRGVsPsQAQGL
S249-p IQRGVsPsQAQGLGS
S303 GPALPAHSSPGLPTT
S304 PALPAHSSPGLPTTT
T311 SPGLPTTTLSPSKVH
S313 GLPTTTLSPSKVHGV
S315 PTTTLSPSKVHGVRY
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