Entity Details

Primary name HNF1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35680
EntryNameHNF1B_HUMAN
FullNameHepatocyte nuclear factor 1-beta
TaxID9606
Evidenceevidence at protein level
Length557
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesHNF1B

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001822 kidney development
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0009743 response to carbohydrate
GO:0014070 response to organic cyclic compound
GO:0030073 insulin secretion
GO:0031016 pancreas development
GO:0031018 endocrine pancreas development
GO:0032922 circadian regulation of gene expression
GO:0035565 regulation of pronephros size
GO:0039020 pronephric nephron tubule development
GO:0042493 response to drug
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043231 intracellular membrane-bounded organelle
GO:0044877 protein-containing complex binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048598 embryonic morphogenesis
GO:0048793 pronephros development
GO:0048806 genitalia development
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
GO:0065004 protein-DNA complex assembly
GO:0070365 hepatocyte differentiation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR006897 Hepatocyte nuclear factor 1, beta isoform, C-terminalDomainDomain
IPR006899 Hepatocyte nuclear factor 1, N-terminalDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR010982 Lambda repressor-like, DNA-binding domain superfamilyFamilyHomologous superfamily
IPR023219 Hepatocyte nuclear factor 1, N-terminal domain superfamilyFamilyHomologous superfamily
IPR039066 Hepatocyte nuclear factor 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
137920 OMIMRenal 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. The disease is caused by variants affecting the gene represented in this entry.
611955 OMIMProstate 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
125853 OMIMDiabetes 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. Disease susceptibility may be associated with variants affecting the gene represented in this entry.