P35680 · HNF1B_HUMAN
- ProteinHepatocyte nuclear factor 1-beta
- GeneHNF1B
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids557 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999).
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).
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).
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 231-311 | Homeobox; HNF1-type | ||||
Sequence: MRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQ |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameHepatocyte nuclear factor 1-beta
- Short namesHNF-1-beta; HNF-1B
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP35680
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Renal cysts and diabetes syndrome (RCAD)
- Note
- DescriptionAn 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.
- See alsoMIM:137920
Natural variants in RCAD
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_046012 | 36 | S>F | in RCAD; gain-of-function mutation; dbSNP:rs544890850 | |
VAR_046013 | 61 | V>G | in RCAD; dbSNP:rs147816724 | |
VAR_046014 | 76 | G>C | in RCAD; uncertain significance; dbSNP:rs144425830 | |
VAR_046015 | 110 | V>G | in RCAD; dbSNP:rs894213416 | |
VAR_046016 | 112 | R>P | in RCAD | |
VAR_046017 | 136 | Q>E | in RCAD | |
VAR_046018 | 148 | S>L | in RCAD | |
VAR_046019 | 148 | S>W | in RCAD; dbSNP:rs121918674 | |
VAR_046020 | 151 | S>P | in RCAD | |
VAR_046021 | 153 | H>N | in RCAD; has diminished transcriptional activity by loss of DNA binding activity | |
VAR_046022 | 156 | K>E | in RCAD; no impact on interaction with PCBD1; reduced coactivation by PCBD1 | |
VAR_046023 | 164 | K>Q | in RCAD | |
VAR_046024 | 165 | R>H | in RCAD; dbSNP:rs121918675 | |
VAR_046025 | 235 | R>Q | in RCAD | |
VAR_046026 | 241 | A>T | in RCAD; dbSNP:rs761415487 | |
VAR_046027 | 260 | E>D | in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B; dbSNP:rs536638039 | |
VAR_046028 | 276 | R>G | in RCAD; no impact on interaction with PCBD1; reduced coactivation by PCBD1 | |
VAR_046029 | 276 | R>Q | in RCAD | |
VAR_046030 | 285 | G>D | in RCAD | |
VAR_046031 | 295 | R>C | in RCAD | |
VAR_046032 | 295 | R>H | in RCAD; dbSNP:rs886043813 | |
VAR_046033 | 295 | R>P | in RCAD | |
VAR_046034 | 370 | G>S | in RCAD; dbSNP:rs113042313 |
Type 2 diabetes mellitus (T2D)
- Note
- DescriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to 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.
- See alsoMIM:125853
Natural variants in T2D
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_017665 | 465 | S>R | in T2D; 22% reduction in activity; dbSNP:rs121918673 |
Prostate cancer, hereditary, 11 (HPC11)
- Note
- DescriptionA 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.
- See alsoMIM:611955
Features
Showing features for mutagenesis, natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 1-32 | Loss of interaction with PCBD1. Loss of PCBD1 recruitment to the nucleus. | ||||
Sequence: Missing | ||||||
Natural variant | VAR_046012 | 36 | in RCAD; gain-of-function mutation; dbSNP:rs544890850 | |||
Sequence: S → F | ||||||
Natural variant | VAR_046013 | 61 | in RCAD; dbSNP:rs147816724 | |||
Sequence: V → G | ||||||
Natural variant | VAR_046014 | 76 | in RCAD; uncertain significance; dbSNP:rs144425830 | |||
Sequence: G → C | ||||||
Natural variant | VAR_046015 | 110 | in RCAD; dbSNP:rs894213416 | |||
Sequence: V → G | ||||||
Natural variant | VAR_046016 | 112 | in RCAD | |||
Sequence: R → P | ||||||
Natural variant | VAR_046017 | 136 | in RCAD | |||
Sequence: Q → E | ||||||
Natural variant | VAR_046018 | 148 | in RCAD | |||
Sequence: S → L | ||||||
Natural variant | VAR_046019 | 148 | in RCAD; dbSNP:rs121918674 | |||
Sequence: S → W | ||||||
Natural variant | VAR_046020 | 151 | in RCAD | |||
Sequence: S → P | ||||||
Natural variant | VAR_046021 | 153 | in RCAD; has diminished transcriptional activity by loss of DNA binding activity | |||
Sequence: H → N | ||||||
Natural variant | VAR_046022 | 156 | in RCAD; no impact on interaction with PCBD1; reduced coactivation by PCBD1 | |||
Sequence: K → E | ||||||
Natural variant | VAR_046023 | 164 | in RCAD | |||
Sequence: K → Q | ||||||
Natural variant | VAR_046024 | 165 | in RCAD; dbSNP:rs121918675 | |||
Sequence: R → H | ||||||
Natural variant | VAR_046025 | 235 | in RCAD | |||
Sequence: R → Q | ||||||
Natural variant | VAR_046026 | 241 | in RCAD; dbSNP:rs761415487 | |||
Sequence: A → T | ||||||
Mutagenesis | 253 | No impact on interaction with PCBD1. Reduced PCBD1 recruitment to the nucleus. Reduced coactivation by PCBD1. | ||||
Sequence: Q → P | ||||||
Natural variant | VAR_046027 | 260 | in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B; dbSNP:rs536638039 | |||
Sequence: E → D | ||||||
Natural variant | VAR_046028 | 276 | in RCAD; no impact on interaction with PCBD1; reduced coactivation by PCBD1 | |||
Sequence: R → G | ||||||
Natural variant | VAR_046029 | 276 | in RCAD | |||
Sequence: R → Q | ||||||
Natural variant | VAR_046030 | 285 | in RCAD | |||
Sequence: G → D | ||||||
Natural variant | VAR_046031 | 295 | in RCAD | |||
Sequence: R → C | ||||||
Natural variant | VAR_046032 | 295 | in RCAD; dbSNP:rs886043813 | |||
Sequence: R → H | ||||||
Natural variant | VAR_046033 | 295 | in RCAD | |||
Sequence: R → P | ||||||
Natural variant | VAR_046034 | 370 | in RCAD; dbSNP:rs113042313 | |||
Sequence: G → S | ||||||
Natural variant | VAR_017665 | 465 | in T2D; 22% reduction in activity; dbSNP:rs121918673 | |||
Sequence: S → R | ||||||
Natural variant | VAR_012058 | 492 | found in patients with early-onset diabetes; uncertain significance; dbSNP:rs187556368 | |||
Sequence: G → S |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,142 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000049121 | 1-557 | UniProt | Hepatocyte nuclear factor 1-beta | |||
Sequence: MVSKLTSLQQELLSALLSSGVTKEVLVQALEELLPSPNFGVKLETLPLSPGSGAEPDTKPVFHTLTNGHAKGRLSGDEGSEDGDDYDTPPILKELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQSSGNMTDKSSQDQLLFLFPEFSQQSHGPGQSDDACSEPTNKKMRRNRFKWGPASQQILYQAYDRQKNPSKEEREALVEECNRAECLQRGVSPSKAHGLGSNLVTEVRVYNWFANRRKEEAFRQKLAMDAYSSNQTHSLNPLLSHGSPHHQPSSSPPNKLSGVRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDGKMISVSGGGLPPVSTLTNIHSLSHHNPQQSQNLIMTPLSGVMAIAQSLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQQPLMQQSPGSHMAQQPFMAAVTQLQNSHMYAHKQEPPQYSHTSRFPSAMVVTDTSSISTLTNMSSSKQCPLQAW | |||||||
Modified residue | 49 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 49 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 52 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 52 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 75 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 75 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 80 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 80 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 279 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 334 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha. Interacts (via HNF-p1 domain) with PCBD1; the interaction increases its transactivation activity (PubMed:24204001).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | P35680 | BPIFA1 Q9NP55 | 3 | EBI-2798841, EBI-953896 | |
BINARY | P35680 | C10orf55 Q5SWW7 | 3 | EBI-2798841, EBI-12809220 | |
BINARY | P35680 | CRX O43186 | 3 | EBI-2798841, EBI-748171 | |
BINARY | P35680 | HNF1A P20823 | 2 | EBI-2798841, EBI-636034 | |
BINARY | P35680 | KRTAP26-1 Q6PEX3 | 3 | EBI-2798841, EBI-3957672 | |
BINARY | P35680 | MLLT10 P55197-2 | 3 | EBI-2798841, EBI-12853322 | |
BINARY | P35680 | OTX2 P32243-2 | 3 | EBI-2798841, EBI-9087860 | |
BINARY | P35680 | OXER1 Q8TDS5 | 3 | EBI-2798841, EBI-12813389 | |
BINARY | P35680 | PCBD1 P61457 | 8 | EBI-2798841, EBI-740475 | |
BINARY | P35680 | POU6F2 P78424 | 3 | EBI-2798841, EBI-12029004 | |
BINARY | P35680 | UFSP1 Q6NVU6 | 3 | EBI-2798841, EBI-12068150 | |
BINARY | P35680 | USP54 Q70EL1-9 | 3 | EBI-2798841, EBI-11975223 | |
BINARY | P35680 | VAC14 Q08AM6 | 3 | EBI-2798841, EBI-2107455 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-31 | Dimerization | ||||
Sequence: MVSKLTSLQQELLSALLSSGVTKEVLVQALE | ||||||
Domain | 1-32 | HNF-p1 | ||||
Sequence: MVSKLTSLQQELLSALLSSGVTKEVLVQALEE | ||||||
Region | 64-85 | Disordered | ||||
Sequence: TLTNGHAKGRLSGDEGSEDGDD | ||||||
Domain | 93-188 | POU-specific atypical | ||||
Sequence: KELQALNTEEAAEQRAEVDRMLSEDPWRAAKMIKGYMQQHNIPQREVVDVTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREILRQFNQTVQ | ||||||
Region | 324-352 | Disordered | ||||
Sequence: HSLNPLLSHGSPHHQPSSSPPNKLSGVRY |
Sequence similarities
Belongs to the HNF1 homeobox family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 4 isoforms produced by Alternative splicing.
P35680-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- NameA
- Length557
- Mass (Da)61,324
- Last updated1994-06-01 v1
- Checksum9E1ECC7423B73980
P35680-2
- NameB
- Differences from canonical
- 183-208: Missing
P35680-3
- NameC
P35680-4
- Name4
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E0YMJ8 | E0YMJ8_HUMAN | HNF1B | 425 | ||
A0A087WXS2 | A0A087WXS2_HUMAN | HNF1B | 293 | ||
A0A087WZC2 | A0A087WZC2_HUMAN | HNF1B | 548 | ||
A0A0C4DGS8 | A0A0C4DGS8_HUMAN | HNF1B | 457 |
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_053327 | 96-125 | in isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_002254 | 183-208 | in isoform B and isoform 4 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_002255 | 350-400 | in isoform C | |||
Sequence: VRYSQQGNNEITSSSTISHHGNSAMVTSQSVLQQVSPASLDPGHNLLSPDG → KQRLGLTASATQPSWFLPRILSGLRVFRGANAFEMILGPLSHCQNILPWK | ||||||
Alternative sequence | VSP_002256 | 401-557 | in isoform C | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_053328 | 447-483 | in isoform 4 | |||
Sequence: SLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQ → MSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ | ||||||
Alternative sequence | VSP_053329 | 484-557 | in isoform 4 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
X58840 EMBL· GenBank· DDBJ | CAA41652.1 EMBL· GenBank· DDBJ | mRNA | ||
X71348 EMBL· GenBank· DDBJ | CAB59223.1 EMBL· GenBank· DDBJ | mRNA | ||
U90287 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90279 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90280 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90281 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90282 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90283 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90284 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90285 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
U90286 EMBL· GenBank· DDBJ | AAC63388.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
HM116556 EMBL· GenBank· DDBJ | ADM43493.1 EMBL· GenBank· DDBJ | mRNA | ||
AK296633 EMBL· GenBank· DDBJ | BAG59235.1 EMBL· GenBank· DDBJ | mRNA | ||
AC091199 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC113211 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC017714 EMBL· GenBank· DDBJ | AAH17714.1 EMBL· GenBank· DDBJ | mRNA |