MGP Database

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MGP003084

UniProt Annotations

Entry Information
Gene NameHNF1 homeobox B
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=A; IsoId=P35680-1; Sequence=Displayed; Name=B; IsoId=P35680-2; Sequence=VSP_002254; Name=C; IsoId=P35680-3; Sequence=VSP_002255, VSP_002256; Name=4; IsoId=P35680-4; Sequence=VSP_053327, VSP_002254, VSP_053328, VSP_053329;
DiseaseDiabetes 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. {ECO:0000269|PubMed:12161522}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
DiseaseProstate cancer, hereditary, 11 (HPC11) [MIM:611955]: 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
DiseaseRenal cysts and diabetes syndrome (RCAD) [MIM:137920]: 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. {ECO:0000269|PubMed:10484768, ECO:0000269|PubMed:10672455, ECO:0000269|PubMed:11845238, ECO:0000269|PubMed:11918730, ECO:0000269|PubMed:14583183, ECO:0000269|PubMed:15001636, ECO:0000269|PubMed:15068978, ECO:0000269|PubMed:15181075, ECO:0000269|PubMed:15930087, ECO:0000269|PubMed:16249435}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionTranscription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.
SimilarityBelongs to the HNF1 homeobox family. {ECO:0000305}.
SimilarityContains 1 homeobox DNA-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00108}.
Subcellular LocationNucleus.
SubunitBinds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha. {ECO:0000269|PubMed:17924661}.
Web ResourceName=Wikipedia; Note=Hepatocyte nuclear factors entry; URL="http://en.wikipedia.org/wiki/Hepatocyte_nuclear_factors";
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