Mouse Anti-HNF1B Recombinant Antibody (3H4) (CBMAB-A8951-LY)

HNF1 Homeobox B

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

FJHN; HNF1beta; HNF2; HPC11; LF-B3; LFB3; MODY5; TCF2; VHNF1

Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:7900999, PubMed:17924661).

Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity).

Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001).

Anterior/posterior pattern specification Source: Ensembl
Branching morphogenesis of an epithelial tube Source: Ensembl
Circadian regulation of gene expression Source: Ensembl
Embryonic digestive tract morphogenesis Source: Ensembl
Endocrine pancreas development Source: UniProtKB
Endodermal cell fate specification Source: Ensembl
Epithelial cell proliferation Source: Ensembl
Genitalia development Source: UniProtKB
Hepatoblast differentiation Source: Ensembl
Hepatocyte differentiation Source: Ensembl
Hindbrain development Source: Ensembl
Inner cell mass cell differentiation Source: Ensembl
Insulin secretion Source: Ensembl
Kidney development Source: UniProtKB
Mesonephric duct formation Source: Ensembl
Negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis Source: Ensembl
Negative regulation of mesenchymal cell apoptotic process involved in metanephros development Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: Ensembl
Notch signaling pathway Source: Ensembl
Pancreas development Source: InterPro
Positive regulation of gene expression Source: Ensembl
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
Pronephric nephron tubule development Source: UniProtKB
Pronephros development Source: UniProtKB
Protein-DNA complex assembly Source: Ensembl
Regulation of branch elongation involved in ureteric bud branching Source: Ensembl
Regulation of pronephros size Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Regulation of Wnt signaling pathway Source: Ensembl
Response to glucose Source: Ensembl
Response to organic cyclic compound Source: Ensembl
Response to xenobiotic stimulus Source: Ensembl
Ureteric bud elongation Source: Ensembl

Nucleus

Renal cysts and diabetes syndrome (RCAD):
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. Affected individuals may also have abnormalities of the genital tract.
Diabetes mellitus, non-insulin-dependent (NIDDM):
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.
Prostate cancer, hereditary, 11 (HPC11):
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.