NP_000449.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
46,907 Da
NCBI Official Full Name
hepatocyte nuclear factor 1-beta isoform 1
NCBI Official Synonym Full Names
HNF1 homeobox B
NCBI Official Synonym Symbols
FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta; HNF-1-beta [Similar Products]
NCBI Protein Information
hepatocyte nuclear factor 1-beta
UniProt Protein Name
Hepatocyte nuclear factor 1-beta
UniProt Synonym Protein Names
Homeoprotein LFB3; Transcription factor 2; TCF-2; Variant hepatic nuclear factor 1; vHNF1
UniProt Synonym Gene Names
UniProt Entry Name
HNF1B_HUMAN
NCBI Summary for HNF1b
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
UniProt Comments for HNF1b
TCF2: Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in HNF1B are the cause of renal cysts and diabetes syndrome (RCAD); also called maturity-onset diabetes of the young type 5 (MODY5) or familial hypoplastic glomerulocystic kidney disease (GCKD). RCAD is an autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Defects in HNF1B may be rare genetic risk factor contributing to the development of non-insulin-dependent diabetes mellitus (NIDDM). NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. Defects in HNF1B may be a cause of susceptibility to prostate cancer hereditary type 11 (HPC11). It is a condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. Belongs to the HNF1 homeobox family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 17q12
Cellular Component: nucleoplasm; transcription factor complex; nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; protein homodimerization activity; DNA binding; protein heterodimerization activity; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; endodermal cell fate specification; regulation of Wnt receptor signaling pathway; negative regulation of transcription from RNA polymerase II promoter; endocrine pancreas development; pronephros development; anterior/posterior pattern formation; epithelial cell proliferation; genitalia development; inner cell mass cell differentiation; branching morphogenesis of a tube; embryonic digestive tract morphogenesis; insulin secretion; response to glucose stimulus; regulation of endodermal cell fate specification; kidney development; hindbrain development
Disease: Renal Cysts And Diabetes Syndrome; Renal Cell Carcinoma, Nonpapillary; Diabetes Mellitus, Noninsulin-dependent
Research Articles on HNF1b
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