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Protein

Hepatocyte nuclear factor 1-beta

Gene

HNF1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transcription factor, probably binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi231 – 311Homeobox; HNF1-typePROSITE-ProRule annotationAdd BLAST81

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-210747 Regulation of gene expression in early pancreatic precursor cells

SIGNOR Signaling Network Open Resource

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SIGNORi
P35680

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hepatocyte nuclear factor 1-beta
Short name:
HNF-1-beta
Short name:
HNF-1B
Alternative name(s):
Homeoprotein LFB3
Transcription factor 2
Short name:
TCF-2
Variant hepatic nuclear factor 1
Short name:
vHNF1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HNF1B
Synonyms:TCF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000275410.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11630 HNF1B

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
189907 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P35680

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Renal cysts and diabetes syndrome (RCAD)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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 also OMIM:137920
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04601236S → F in RCAD; gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs544890850Ensembl.1
Natural variantiVAR_04601361V → G in RCAD. 1 PublicationCorresponds to variant dbSNP:rs147816724EnsemblClinVar.1
Natural variantiVAR_04601476G → C in RCAD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144425830EnsemblClinVar.1
Natural variantiVAR_046015110V → G in RCAD. 1 PublicationCorresponds to variant dbSNP:rs894213416Ensembl.1
Natural variantiVAR_046016112R → P in RCAD. 2 Publications1
Natural variantiVAR_046017136Q → E in RCAD. 2 Publications1
Natural variantiVAR_046018148S → L in RCAD. 1 Publication1
Natural variantiVAR_046019148S → W in RCAD. 1 PublicationCorresponds to variant dbSNP:rs121918674EnsemblClinVar.1
Natural variantiVAR_046020151S → P in RCAD. 1 Publication1
Natural variantiVAR_046021153H → N in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication1
Natural variantiVAR_046022156K → E in RCAD. 1 Publication1
Natural variantiVAR_046023164K → Q in RCAD. 2 Publications1
Natural variantiVAR_046024165R → H in RCAD. 2 PublicationsCorresponds to variant dbSNP:rs121918675EnsemblClinVar.1
Natural variantiVAR_046025235R → Q in RCAD. 1 Publication1
Natural variantiVAR_046026241A → T in RCAD. 1 PublicationCorresponds to variant dbSNP:rs761415487EnsemblClinVar.1
Natural variantiVAR_046027260E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 PublicationCorresponds to variant dbSNP:rs536638039Ensembl.1
Natural variantiVAR_046028276R → G in RCAD. 1 Publication1
Natural variantiVAR_046029276R → Q in RCAD. 1 Publication1
Natural variantiVAR_046030285G → D in RCAD. 1 Publication1
Natural variantiVAR_046031295R → C in RCAD. 1 Publication1
Natural variantiVAR_046032295R → H in RCAD. 2 PublicationsCorresponds to variant dbSNP:rs886043813EnsemblClinVar.1
Natural variantiVAR_046033295R → P in RCAD. 1 Publication1
Natural variantiVAR_046034370G → S in RCAD. 1 PublicationCorresponds to variant dbSNP:rs113042313EnsemblClinVar.1
Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017665465S → R in NIDDM; 22% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs121918673EnsemblClinVar.1
Prostate cancer, hereditary, 11 (HPC11)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease 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 also OMIM:611955

Keywords - Diseasei

Diabetes mellitus

Organism-specific databases

DisGeNET

More...
DisGeNETi
6928

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HNF1B

MalaCards human disease database

More...
MalaCardsi
HNF1B
MIMi125853 phenotype
137920 phenotype
611955 phenotype

Open Targets

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OpenTargetsi
ENSG00000275410

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
261265 17q12 microdeletion syndrome
34528 Autosomal dominant primary hypomagnesemia with hypocalciuria
97364 Bilateral multicystic dysplastic kidney
1331 Familial prostate cancer
93111 Renal cysts and diabetes syndrome
97363 Unilateral multicystic dysplastic kidney

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162391083

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HNF1B

Domain mapping of disease mutations (DMDM)

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DMDMi
547664

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000491211 – 557Hepatocyte nuclear factor 1-betaAdd BLAST557

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei49PhosphoserineBy similarity1
Modified residuei52PhosphoserineBy similarity1
Modified residuei75PhosphoserineBy similarity1
Modified residuei80PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P35680

PeptideAtlas

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PeptideAtlasi
P35680

PRoteomics IDEntifications database

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PRIDEi
P35680

ProteomicsDB human proteome resource

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ProteomicsDBi
55134
55135 [P35680-2]
55136 [P35680-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P35680

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P35680

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000275410 Expressed in 188 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

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CleanExi
HS_HNF1B

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P35680 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P35680 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB068192
HPA002083

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112790, 6 interactors

Protein interaction database and analysis system

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IntActi
P35680, 14 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000225893

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1557
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P35680

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P35680

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P35680

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 31DimerizationBy similarityAdd BLAST31

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HNF1 homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFA0 Eukaryota
ENOG410ZZZ0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153818

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000015305

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005980

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P35680

KEGG Orthology (KO)

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KOi
K08034

Identification of Orthologs from Complete Genome Data

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OMAi
THKQEPP

Database of Orthologous Groups

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OrthoDBi
EOG091G052F

Database for complete collections of gene phylogenies

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PhylomeDBi
P35680

TreeFam database of animal gene trees

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TreeFami
TF320327

Family and domain databases

Conserved Domains Database

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CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039066 HNF-1
IPR006899 HNF-1_N
IPR023219 HNF1_dimer_N_dom_sf
IPR006897 HNF1b_C
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR11568 PTHR11568, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04814 HNF-1_N, 1 hit
PF04812 HNF-1B_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100957 SSF100957, 1 hit
SSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: P35680-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MVSKLTSLQQ ELLSALLSSG VTKEVLVQAL EELLPSPNFG VKLETLPLSP
60 70 80 90 100
GSGAEPDTKP VFHTLTNGHA KGRLSGDEGS EDGDDYDTPP ILKELQALNT
110 120 130 140 150
EEAAEQRAEV DRMLSEDPWR AAKMIKGYMQ QHNIPQREVV DVTGLNQSHL
160 170 180 190 200
SQHLNKGTPM KTQKRAALYT WYVRKQREIL RQFNQTVQSS GNMTDKSSQD
210 220 230 240 250
QLLFLFPEFS QQSHGPGQSD DACSEPTNKK MRRNRFKWGP ASQQILYQAY
260 270 280 290 300
DRQKNPSKEE REALVEECNR AECLQRGVSP SKAHGLGSNL VTEVRVYNWF
310 320 330 340 350
ANRRKEEAFR QKLAMDAYSS NQTHSLNPLL SHGSPHHQPS SSPPNKLSGV
360 370 380 390 400
RYSQQGNNEI TSSSTISHHG NSAMVTSQSV LQQVSPASLD PGHNLLSPDG
410 420 430 440 450
KMISVSGGGL PPVSTLTNIH SLSHHNPQQS QNLIMTPLSG VMAIAQSLNT
460 470 480 490 500
SQAQSVPVIN SVAGSLAALQ PVQFSQQLHS PHQQPLMQQS PGSHMAQQPF
510 520 530 540 550
MAAVTQLQNS HMYAHKQEPP QYSHTSRFPS AMVVTDTSSI STLTNMSSSK

QCPLQAW
Length:557
Mass (Da):61,324
Last modified:June 1, 1994 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9E1ECC7423B73980
GO
Isoform B (identifier: P35680-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-208: Missing.

Show »
Length:531
Mass (Da):58,379
Checksum:iCEC69B827DD176D3
GO
Isoform C (identifier: P35680-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-400: VRYSQQGNNE...PGHNLLSPDG → KQRLGLTASA...SHCQNILPWK
     401-557: Missing.

Show »
Length:399
Mass (Da):44,764
Checksum:iCA374B25AB5A2A48
GO
Isoform 4 (identifier: P35680-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     96-125: Missing.
     183-208: Missing.
     447-483: SLNTSQAQSVPVINSVAGSLAALQPVQFSQQLHSPHQ → MSSTSLVMPTHHLLRAQQQGPCFPHHHPLGSCHGKAQ
     484-557: Missing.

Show »
Length:427
Mass (Da):46,907
Checksum:iDE3646E9A2B068E7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZC2A0A087WZC2_HUMAN
Hepatocyte nuclear factor 1-beta
HNF1B
548Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DGS8A0A0C4DGS8_HUMAN
Hepatocyte nuclear factor 1-beta
HNF1B
457Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E0YMJ8E0YMJ8_HUMAN
HNF1 beta A splice variant 3
HNF1B
425Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WXS2A0A087WXS2_HUMAN
Hepatocyte nuclear factor 1-beta
HNF1B
293Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04601236S → F in RCAD; gain-of-function mutation. 1 PublicationCorresponds to variant dbSNP:rs544890850Ensembl.1
Natural variantiVAR_04601361V → G in RCAD. 1 PublicationCorresponds to variant dbSNP:rs147816724EnsemblClinVar.1
Natural variantiVAR_04601476G → C in RCAD; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144425830EnsemblClinVar.1
Natural variantiVAR_046015110V → G in RCAD. 1 PublicationCorresponds to variant dbSNP:rs894213416Ensembl.1
Natural variantiVAR_046016112R → P in RCAD. 2 Publications1
Natural variantiVAR_046017136Q → E in RCAD. 2 Publications1
Natural variantiVAR_046018148S → L in RCAD. 1 Publication1
Natural variantiVAR_046019148S → W in RCAD. 1 PublicationCorresponds to variant dbSNP:rs121918674EnsemblClinVar.1
Natural variantiVAR_046020151S → P in RCAD. 1 Publication1
Natural variantiVAR_046021153H → N in RCAD; has diminished transcriptional activity by loss of DNA binding activity. 1 Publication1
Natural variantiVAR_046022156K → E in RCAD. 1 Publication1
Natural variantiVAR_046023164K → Q in RCAD. 2 Publications1
Natural variantiVAR_046024165R → H in RCAD. 2 PublicationsCorresponds to variant dbSNP:rs121918675EnsemblClinVar.1
Natural variantiVAR_046025235R → Q in RCAD. 1 Publication1
Natural variantiVAR_046026241A → T in RCAD. 1 PublicationCorresponds to variant dbSNP:rs761415487EnsemblClinVar.1
Natural variantiVAR_046027260E → D in RCAD; insignificant differences in transactivation ability between wild-type and mutated HNF1B. 1 PublicationCorresponds to variant dbSNP:rs536638039Ensembl.1
Natural variantiVAR_046028276R → G in RCAD. 1 Publication1
Natural variantiVAR_046029276R → Q in RCAD. 1 Publication1
Natural variantiVAR_046030285G → D in RCAD. 1 Publication1
Natural variantiVAR_046031295R → C in RCAD. 1 Publication1
Natural variantiVAR_046032295R → H in RCAD. 2 PublicationsCorresponds to variant dbSNP:rs886043813EnsemblClinVar.1
Natural variantiVAR_046033295R → P in RCAD. 1 Publication1
Natural variantiVAR_046034370G → S in RCAD. 1 PublicationCorresponds to variant dbSNP:rs113042313EnsemblClinVar.1
Natural variantiVAR_017665465S → R in NIDDM; 22% reduction in activity. 1 PublicationCorresponds to variant dbSNP:rs121918673EnsemblClinVar.1
Natural variantiVAR_012058492G → S in diabetes; early onset association; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs187556368EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05332796 – 125Missing in isoform 4. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_002254183 – 208Missing in isoform B and isoform 4. 3 PublicationsAdd BLAST26
Alternative sequenceiVSP_002255350 – 400VRYSQ…LSPDG → KQRLGLTASATQPSWFLPRI LSGLRVFRGANAFEMILGPL SHCQNILPWK in isoform C. 1 PublicationAdd BLAST51
Alternative sequenceiVSP_002256401 – 557Missing in isoform C. 1 PublicationAdd BLAST157
Alternative sequenceiVSP_053328447 – 483SLNTS…HSPHQ → MSSTSLVMPTHHLLRAQQQG PCFPHHHPLGSCHGKAQ in isoform 4. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_053329484 – 557Missing in isoform 4. 1 PublicationAdd BLAST74

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X58840 mRNA Translation: CAA41652.1
X71348 mRNA Translation: CAB59223.1
U90287
, U90279, U90280, U90281, U90282, U90283, U90284, U90285, U90286 Genomic DNA Translation: AAC63388.1
HM116556 mRNA Translation: ADM43493.1
AK296633 mRNA Translation: BAG59235.1
AC091199 Genomic DNA No translation available.
AC113211 Genomic DNA No translation available.
BC017714 mRNA Translation: AAH17714.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11324.1 [P35680-1]
CCDS58538.1 [P35680-2]

Protein sequence database of the Protein Information Resource

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PIRi
S34412

NCBI Reference Sequences

More...
RefSeqi
NP_000449.1, NM_000458.3 [P35680-1]
NP_001159395.1, NM_001165923.3 [P35680-2]
NP_001291215.1, NM_001304286.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.191144

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000610754; ENSP00000484591; ENSG00000276194 [P35680-1]
ENST00000617811; ENSP00000480291; ENSG00000275410 [P35680-1]
ENST00000621123; ENSP00000482711; ENSG00000275410 [P35680-2]
ENST00000633792; ENSP00000488080; ENSG00000276194 [P35680-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6928

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6928

UCSC genome browser

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UCSCi
uc010wdi.3 human [P35680-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Hepatocyte nuclear factors entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X58840 mRNA Translation: CAA41652.1
X71348 mRNA Translation: CAB59223.1
U90287
, U90279, U90280, U90281, U90282, U90283, U90284, U90285, U90286 Genomic DNA Translation: AAC63388.1
HM116556 mRNA Translation: ADM43493.1
AK296633 mRNA Translation: BAG59235.1
AC091199 Genomic DNA No translation available.
AC113211 Genomic DNA No translation available.
BC017714 mRNA Translation: AAH17714.1
CCDSiCCDS11324.1 [P35680-1]
CCDS58538.1 [P35680-2]
PIRiS34412
RefSeqiNP_000449.1, NM_000458.3 [P35680-1]
NP_001159395.1, NM_001165923.3 [P35680-2]
NP_001291215.1, NM_001304286.1
UniGeneiHs.191144

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DA6NMR-A233-321[»]
2H8RX-ray3.20A/B91-310[»]
5K9SX-ray2.40B/C227-237[»]
ProteinModelPortaliP35680
SMRiP35680
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112790, 6 interactors
IntActiP35680, 14 interactors
STRINGi9606.ENSP00000225893

PTM databases

iPTMnetiP35680
PhosphoSitePlusiP35680

Polymorphism and mutation databases

BioMutaiHNF1B
DMDMi547664

Proteomic databases

PaxDbiP35680
PeptideAtlasiP35680
PRIDEiP35680
ProteomicsDBi55134
55135 [P35680-2]
55136 [P35680-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6928
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000610754; ENSP00000484591; ENSG00000276194 [P35680-1]
ENST00000617811; ENSP00000480291; ENSG00000275410 [P35680-1]
ENST00000621123; ENSP00000482711; ENSG00000275410 [P35680-2]
ENST00000633792; ENSP00000488080; ENSG00000276194 [P35680-2]
GeneIDi6928
KEGGihsa:6928
UCSCiuc010wdi.3 human [P35680-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6928
DisGeNETi6928
EuPathDBiHostDB:ENSG00000275410.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HNF1B
GeneReviewsiHNF1B
HGNCiHGNC:11630 HNF1B
HPAiCAB068192
HPA002083
MalaCardsiHNF1B
MIMi125853 phenotype
137920 phenotype
189907 gene
611955 phenotype
neXtProtiNX_P35680
OpenTargetsiENSG00000275410
Orphaneti261265 17q12 microdeletion syndrome
34528 Autosomal dominant primary hypomagnesemia with hypocalciuria
97364 Bilateral multicystic dysplastic kidney
1331 Familial prostate cancer
93111 Renal cysts and diabetes syndrome
97363 Unilateral multicystic dysplastic kidney
PharmGKBiPA162391083

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFA0 Eukaryota
ENOG410ZZZ0 LUCA
GeneTreeiENSGT00940000153818
HOGENOMiHOG000015305
HOVERGENiHBG005980
InParanoidiP35680
KOiK08034
OMAiTHKQEPP
OrthoDBiEOG091G052F
PhylomeDBiP35680
TreeFamiTF320327

Enzyme and pathway databases

ReactomeiR-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
R-HSA-210747 Regulation of gene expression in early pancreatic precursor cells
SIGNORiP35680

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
HNF1B human
EvolutionaryTraceiP35680

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HNF1B

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6928

Protein Ontology

More...
PROi
PR:P35680

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000275410 Expressed in 188 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_HNF1B
ExpressionAtlasiP35680 baseline and differential
GenevisibleiP35680 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR039066 HNF-1
IPR006899 HNF-1_N
IPR023219 HNF1_dimer_N_dom_sf
IPR006897 HNF1b_C
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
PANTHERiPTHR11568 PTHR11568, 1 hit
PfamiView protein in Pfam
PF04814 HNF-1_N, 1 hit
PF04812 HNF-1B_C, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF100957 SSF100957, 1 hit
SSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHNF1B_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P35680
Secondary accession number(s): B4DKM3, E0YMJ9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: June 1, 1994
Last modified: December 5, 2018
This is version 207 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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