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Protein

Hepatocyte nuclear factor 1-alpha

Gene

HNF1A

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

Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.2 Publications

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 bindingi199 – 279Homeobox; 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-210745 Regulation of gene expression in beta cells

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P20823

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P20823

<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-alpha
Short name:
HNF-1-alpha
Short name:
HNF-1A
Alternative name(s):
Liver-specific transcription factor LF-B1
Short name:
LFB1
Transcription factor 1
Short name:
TCF-1
<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:HNF1A
Synonyms:TCF1
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000135100.17

Human Gene Nomenclature Database

More...
HGNCi
HGNC:11621 HNF1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
142410 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20823

<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

Hepatic adenomas familial (HEPAF)
The disease is caused by mutations affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the development of some hepatocellular carcinomas.
Disease descriptionRare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
See also OMIM:142330
Maturity-onset diabetes of the young 3 (MODY3)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
See also OMIM:600496
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_01053712L → H in MODY3; abolishes interaction with PCBD1 and DNA. 3 Publications1
Natural variantiVAR_01248320G → R in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications1
Natural variantiVAR_01053831G → D in MODY3; no effect on interaction with PCBD1 and DNA. 3 Publications1
Natural variantiVAR_010541107L → R in MODY3. 1 Publication1
Natural variantiVAR_010542117K → E in MODY3. 1 Publication1
Natural variantiVAR_003756122Y → C in MODY3. 1 Publication1
Natural variantiVAR_010543128I → N in MODY3. 1 Publication1
Natural variantiVAR_010544129P → T in MODY3. 1 Publication1
Natural variantiVAR_010545131R → Q in MODY3. 2 Publications1
Natural variantiVAR_010546131R → W in MODY3. 2 Publications1
Natural variantiVAR_010547133V → M in MODY3. 1 Publication1
Natural variantiVAR_003757142S → F in MODY3; reduces transcription activation by about 80%. 2 Publications1
Natural variantiVAR_010548143H → Y in MODY3. 2 Publications1
Natural variantiVAR_010549158K → N in MODY3. 1 Publication1
Natural variantiVAR_003758159R → Q in MODY3. 2 Publications1
Natural variantiVAR_010550159R → W in MODY3. 2 Publications1
Natural variantiVAR_010551161A → T in MODY3. 1 Publication1
Natural variantiVAR_079478171 – 631Missing in MODY3. 1 PublicationAdd BLAST461
Natural variantiVAR_063069200R → W in MODY3. 1 Publication1
Natural variantiVAR_010554203R → C in MODY3. 1 Publication1
Natural variantiVAR_012484203R → H in MODY3. 1 Publication1
Natural variantiVAR_010555205K → Q in MODY3; reduces transcription activation by about 50%. 2 Publications1
Natural variantiVAR_010556229R → Q in MODY3. 1 Publication1
Natural variantiVAR_010559259V → D in MODY3. 1
Natural variantiVAR_010560260T → M in MODY3. 1 Publication1
Natural variantiVAR_010561263R → C in MODY3. 1 Publication1
Natural variantiVAR_079479271R → G in MODY3. 1 Publication1
Natural variantiVAR_010562271R → W in MODY3. 1 Publication1
Natural variantiVAR_012485432S → C in MODY3. 1 Publication1
Natural variantiVAR_003760447P → L in MODY3. 3 Publications1
Natural variantiVAR_010567519P → L in MODY3. 1 Publication1
Natural variantiVAR_010568537T → R in MODY3; incomplete penetrance. 1 Publication1
Natural variantiVAR_010571594S → I in MODY3. 1
Natural variantiVAR_012486618I → M in MODY3. 1 Publication1
Natural variantiVAR_010572619E → K in MODY3. 1 Publication1
Natural variantiVAR_010573620T → I in MODY3; incomplete penetrance. 2 Publications1
Diabetes mellitus, insulin-dependent, 20 (IDDM20)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:612520
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01053948E → K in IDDM20. 1 Publication1
Natural variantiVAR_010565415G → R in IDDM20; decreased function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_003761583R → G in IDDM20. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi127N → W: Abolishes transcription activation. 1 Publication1
Mutagenesisi132E → K: Abolishes transcription activation. 1 Publication1
Mutagenesisi177F → S: No significant effect on transcription activation. 1 Publication1
Mutagenesisi186I → Q: No effect on transcription activation. 1 Publication1
Mutagenesisi190T → Q: No effect on transcription activation. 1 Publication1
Mutagenesisi202N → D: Reduces transcription activation by 70%. 1 Publication1
Mutagenesisi246V → D: Reduces transcription activation by 75%. 1 Publication1
Mutagenesisi257N → W: Reduces transcription activation by 70%. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6927

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

More...
GeneReviewsi
HNF1A

MalaCards human disease database

More...
MalaCardsi
HNF1A
MIMi142330 phenotype
600496 phenotype
606391 phenotype
612520 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000135100

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

More...
Orphaneti
319303 Chromophobe renal cell carcinoma
404511 Clear cell papillary renal cell carcinoma
324575 Hyperinsulinism due to HNF1A deficiency
552 MODY

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36380

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB04419 Norleucine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HNF1A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51338763

<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_00000491151 – 631Hepatocyte nuclear factor 1-alphaAdd BLAST631

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 residuei70PhosphoserineBy similarity1
Modified residuei74PhosphothreonineBy similarity1
Modified residuei93PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1
Modified residuei313PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P20823

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

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PaxDbi
P20823

PeptideAtlas

More...
PeptideAtlasi
P20823

PRoteomics IDEntifications database

More...
PRIDEi
P20823

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53806
53807 [P20823-2]
53808 [P20823-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P20823

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

More...
PhosphoSitePlusi
P20823

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000135100 Expressed in 95 organ(s), highest expression level in right lobe of liver

CleanEx database of gene expression profiles

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CleanExi
HS_HNF1A

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P20823 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20823 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035231

<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. Interacts with PCBD1. Heterotetramer with PCBD1; formed by a dimer of dimers.2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
112789, 39 interactors

Database of interacting proteins

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DIPi
DIP-33544N

Protein interaction database and analysis system

More...
IntActi
P20823, 11 interactors

Molecular INTeraction database

More...
MINTi
P20823

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000257555

<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

1631
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
P20823

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

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SMRi
P20823

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P20823

<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 – 31DimerizationAdd BLAST31
Regioni130 – 132Interaction with DNA3
Regioni143 – 149Interaction with DNA7
Regioni155 – 158Interaction with DNA4
Regioni203 – 206Interaction with DNA4
Regioni263 – 265Interaction with DNA3
Regioni270 – 273Interaction with DNA4

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi197 – 205Nuclear localization signalCurated9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi71 – 80Asp/Glu-rich (acidic; potential involvement with transcription)10

<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

More...
HOGENOMi
HOG000015305

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005980

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P20823

KEGG Orthology (KO)

More...
KOi
K08036

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20823

TreeFam database of animal gene trees

More...
TreeFami
TF320327

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039066 HNF-1
IPR006899 HNF-1_N
IPR023219 HNF1_dimer_N_dom_sf
IPR006898 HNF1a_C
IPR006897 HNF1b_C
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR11568 PTHR11568, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04814 HNF-1_N, 1 hit
PF04813 HNF-1A_C, 1 hit
PF04812 HNF-1B_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
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 (8+)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 8 <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 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: P20823-1) [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
MVSKLSQLQT ELLAALLESG LSKEALIQAL GEPGPYLLAG EGPLDKGESC
60 70 80 90 100
GGGRGELAEL PNGLGETRGS EDETDDDGED FTPPILKELE NLSPEEAAHQ
110 120 130 140 150
KAVVETLLQE DPWRVAKMVK SYLQQHNIPQ REVVDTTGLN QSHLSQHLNK
160 170 180 190 200
GTPMKTQKRA ALYTWYVRKQ REVAQQFTHA GQGGLIEEPT GDELPTKKGR
210 220 230 240 250
RNRFKWGPAS QQILFQAYER QKNPSKEERE TLVEECNRAE CIQRGVSPSQ
260 270 280 290 300
AQGLGSNLVT EVRVYNWFAN RRKEEAFRHK LAMDTYSGPP PGPGPGPALP
310 320 330 340 350
AHSSPGLPPP ALSPSKVHGV RYGQPATSET AEVPSSSGGP LVTVSTPLHQ
360 370 380 390 400
VSPTGLEPSH SLLSTEAKLV SAAGGPLPPV STLTALHSLE QTSPGLNQQP
410 420 430 440 450
QNLIMASLPG VMTIGPGEPA SLGPTFTNTG ASTLVIGLAS TQAQSVPVIN
460 470 480 490 500
SMGSSLTTLQ PVQFSQPLHP SYQQPLMPPV QSHVTQSPFM ATMAQLQSPH
510 520 530 540 550
ALYSHKPEVA QYTHTGLLPQ TMLITDTTNL SALASLTPTK QVFTSDTEAS
560 570 580 590 600
SESGLHTPAS QATTLHVPSQ DPAGIQHLQP AHRLSASPTV SSSSLVLYQS
610 620 630
SDSSNGQSHL LPSNHSVIET FISTQMASSS Q
Length:631
Mass (Da):67,356
Last modified:August 16, 2004 - v2
<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:i8327CD4FDC39254A
GO
Isoform B (identifier: P20823-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     501-542: ALYSHKPEVA...LASLTPTKQV → GEHPVPHTAG...ACVSGTSVFP
     543-601: Missing.

Show »
Length:572
Mass (Da):61,112
Checksum:iE9BD79E885C2E3C0
GO
Isoform C (identifier: P20823-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     438-494: LASTQAQSVP...TQSPFMATMA → KLVGMGGHLG...SHCATSVIPG
     495-601: Missing.

Show »
Length:524
Mass (Da):55,930
Checksum:iF6855702DE665780
GO
Isoform 4 (identifier: P20823-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-278: QFTHAGQGGL...ANRRKEEAFR → RRNASREGCP...QKYPQAAAVP
     279-631: Missing.

Show »
Length:278
Mass (Da):30,407
Checksum:i1AB561D8993D268F
GO
Isoform 5 (identifier: P20823-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     239-247: AECIQRGVS → CALWTACDQ
     248-631: Missing.

Show »
Length:247
Mass (Da):27,519
Checksum:i65A8988847FC27DF
GO
Isoform 6 (identifier: P20823-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-117: Missing.
     438-520: LASTQAQSVP...QYTHTGLLPQ → KLVGMGGHLG...NTSILWYLRR
     521-631: Missing.

Show »
Length:403
Mass (Da):43,469
Checksum:i5D22409F773364C6
GO
Isoform 7 (identifier: P20823-7) [UniParc]FASTAAdd to basket
Also known as: insIVS8

The sequence of this isoform differs from the canonical sequence as follows:
     540-540: K → KQVRSRPAGPPLACDRAPHPHIPRAQEAALLP

Note: Due to intron retention.Curated
Show »
Length:662
Mass (Da):70,661
Checksum:iFCCE6C78F8F6676F
GO
Isoform 8 (identifier: P20823-8) [UniParc]FASTAAdd to basket
Also known as: delta 2

The sequence of this isoform differs from the canonical sequence as follows:
     110-119: EDPWRVAKMV → VHPCRAGRAD
     120-631: Missing.

Note: No experimental confirmation available.
Show »
Length:119
Mass (Da):12,491
Checksum:i136DC46C438C5BC9
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0K0F5H0K0_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
638Annotation 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>
U3KQS6U3KQS6_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A TCF1, hCG_27361
542Annotation 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>
A0A0A0MTK8A0A0A0MTK8_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
662Annotation 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>
A0A0A0MQU7A0A0A0MQU7_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
631Annotation 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>
H0YND5H0YND5_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
356Annotation score:

Annotation score:1 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>
E0YMI9E0YMI9_HUMAN
HNF1 alpha A splice variant 3
HNF1A
452Annotation score:

Annotation score:1 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>
A0A087WYP0A0A087WYP0_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
235Annotation score:

Annotation score:1 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>
E0YMJ1E0YMJ1_HUMAN
HNF1 alpha A splice variant 5
HNF1A
227Annotation score:

Annotation score:1 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>
F5H3Z5F5H3Z5_HUMAN
Hepatocyte nuclear factor 1-alpha
HNF1A
41Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 7 (identifier: P20823-7)
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti551L → S in ADK56177 (Ref. 5) Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01053712L → H in MODY3; abolishes interaction with PCBD1 and DNA. 3 Publications1
Natural variantiVAR_01248320G → R in MODY3; abolishes interaction with PCBD1 and DNA. 2 Publications1
Natural variantiVAR_00790527I → L7 PublicationsCorresponds to variant dbSNP:rs1169288EnsemblClinVar.1
Natural variantiVAR_01053831G → D in MODY3; no effect on interaction with PCBD1 and DNA. 3 Publications1
Natural variantiVAR_01053948E → K in IDDM20. 1 Publication1
Natural variantiVAR_01054098A → V3 PublicationsCorresponds to variant dbSNP:rs1800574EnsemblClinVar.1
Natural variantiVAR_010541107L → R in MODY3. 1 Publication1
Natural variantiVAR_010542117K → E in MODY3. 1 Publication1
Natural variantiVAR_003756122Y → C in MODY3. 1 Publication1
Natural variantiVAR_033088127N → Y in a hepatocellular carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010543128I → N in MODY3. 1 Publication1
Natural variantiVAR_010544129P → T in MODY3. 1 Publication1
Natural variantiVAR_010545131R → Q in MODY3. 2 Publications1
Natural variantiVAR_010546131R → W in MODY3. 2 Publications1
Natural variantiVAR_010547133V → M in MODY3. 1 Publication1
Natural variantiVAR_003757142S → F in MODY3; reduces transcription activation by about 80%. 2 Publications1
Natural variantiVAR_010548143H → Y in MODY3. 2 Publications1
Natural variantiVAR_010549158K → N in MODY3. 1 Publication1
Natural variantiVAR_003758159R → Q in MODY3. 2 Publications1
Natural variantiVAR_010550159R → W in MODY3. 2 Publications1
Natural variantiVAR_010551161A → T in MODY3. 1 Publication1
Natural variantiVAR_033089165W → C in a hepatocellular carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_079478171 – 631Missing in MODY3. 1 PublicationAdd BLAST461
Natural variantiVAR_010552191G → D in late-onset NIDDM. 1 Publication1
Natural variantiVAR_063069200R → W in MODY3. 1 Publication1
Natural variantiVAR_010554203R → C in MODY3. 1 Publication1
Natural variantiVAR_012484203R → H in MODY3. 1 Publication1
Natural variantiVAR_010555205K → Q in MODY3; reduces transcription activation by about 50%. 2 Publications1
Natural variantiVAR_033090206W → C in a hepatic adenoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_033091206W → L in a hepatic adenoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010556229R → Q in MODY3. 1 Publication1
Natural variantiVAR_033092237N → S in a hepatic multiple adenoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010557241C → G in IDDM20 and MODY3. 2 Publications1
Natural variantiVAR_033093244R → G in a hepatic adenoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_033094250Q → P in a hepatocellular carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_010558254L → M in late-onset NIDDM; low penetrance; unknown pathological significance. 1 Publication1
Natural variantiVAR_010559259V → D in MODY3. 1
Natural variantiVAR_010560260T → M in MODY3. 1 Publication1
Natural variantiVAR_010561263R → C in MODY3. 1 Publication1
Natural variantiVAR_033095268F → C in a hepatic adenoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_079479271R → G in MODY3. 1 Publication1
Natural variantiVAR_010562271R → W in MODY3. 1 Publication1
Natural variantiVAR_010563272R → C in NIDDM; loss of function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_003759272R → H in IDDM20 and MODY3. 3 Publications1
Natural variantiVAR_033096273K → E in a hepatic adenoma sample; somatic mutation. 2 Publications1
Natural variantiVAR_010564319G → S Strong association with NIDDM susceptibility; unique to the Canadian Oji-Cree population. 1 Publication1
Natural variantiVAR_010565415G → R in IDDM20; decreased function in positive regulation of DNA-templated transcription. 1 Publication1
Natural variantiVAR_012485432S → C in MODY3. 1 Publication1
Natural variantiVAR_003760447P → L in MODY3. 3 Publications1
Natural variantiVAR_007906487S → N6 PublicationsCorresponds to variant dbSNP:rs2464196EnsemblClinVar.1
Natural variantiVAR_010566514H → R1 Publication1
Natural variantiVAR_010567519P → L in MODY3. 1 Publication1
Natural variantiVAR_010568537T → R in MODY3; incomplete penetrance. 1 Publication1
Natural variantiVAR_010569574G → S in a black African with an atypical form of diabetes; also in an individual with hepatic adenoma and familial early-onset diabetes. 4 PublicationsCorresponds to variant dbSNP:rs1169305EnsemblClinVar.1
Natural variantiVAR_003761583R → G in IDDM20. 1 Publication1
Natural variantiVAR_010570583R → Q in late-onset NIDDM; also in an individual with hepatic hyperplasia and familial early-onset diabetes. 2 Publications1
Natural variantiVAR_010571594S → I in MODY3. 1
Natural variantiVAR_012486618I → M in MODY3. 1 Publication1
Natural variantiVAR_010572619E → K in MODY3. 1 Publication1
Natural variantiVAR_010573620T → I in MODY3; incomplete penetrance. 2 Publications1

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_0533241 – 117Missing in isoform 6. 1 PublicationAdd BLAST117
Alternative sequenceiVSP_054300110 – 119EDPWRVAKMV → VHPCRAGRAD in isoform 8. Curated10
Alternative sequenceiVSP_054301120 – 631Missing in isoform 8. CuratedAdd BLAST512
Alternative sequenceiVSP_047736176 – 278QFTHA…EEAFR → RRNASREGCPHHRHRGWAPT SSRRCVSTTGLPTGAKKKPS GTSWPWTRTAGPPQGQARDL RCPLTAPLACLHLPSPPVRS TVCAMDSLRPVRLQKYPQAA AVP in isoform 4. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_047737239 – 247AECIQRGVS → CALWTACDQ in isoform 5. 1 Publication9
Alternative sequenceiVSP_047738248 – 631Missing in isoform 5. 1 PublicationAdd BLAST384
Alternative sequenceiVSP_047739279 – 631Missing in isoform 4. 1 PublicationAdd BLAST353
Alternative sequenceiVSP_053325438 – 520LASTQ…GLLPQ → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHTTCIYPV PTLDQSLCYISDTWVNQTDQ NLSNSSREAGTKHNTSILWY LRR in isoform 6. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_002252438 – 494LASTQ…MATMA → KLVGMGGHLGGRLMGQPQNP GAGRATGTHSFIHSFIQHVF IQCLLWTSHCATSVIPG in isoform C. CuratedAdd BLAST57
Alternative sequenceiVSP_002253495 – 601Missing in isoform C. CuratedAdd BLAST107
Alternative sequenceiVSP_002250501 – 542ALYSH…PTKQV → GEHPVPHTAGDDDRGWLSMD AGERGAWQALQSACVSGTSV FP in isoform B. CuratedAdd BLAST42
Alternative sequenceiVSP_053326521 – 631Missing in isoform 6. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_054302540K → KQVRSRPAGPPLACDRAPHP HIPRAQEAALLP in isoform 7. 1 Publication1
Alternative sequenceiVSP_002251543 – 601Missing in isoform B. CuratedAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M57732 mRNA Translation: AAA88077.1
X71346 mRNA Translation: CAB59201.1
U72618
, U72612, U72613, U72614, U72615, U72616, U72617 Genomic DNA Translation: AAC51137.1
HM116552 mRNA Translation: ADM43489.1
HM116557 mRNA Translation: ADM43494.1
HM116558 mRNA Translation: ADM43495.1
HM449088 mRNA Translation: ADK56177.1
HM449089 mRNA Translation: ADK56178.1
EF641294 Genomic DNA Translation: ABR09270.1
AC079602 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98226.1
BC104908 mRNA Translation: AAI04909.1
BC104910 mRNA Translation: AAI04911.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9209.1 [P20823-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A36749

NCBI Reference Sequences

More...
RefSeqi
NP_000536.5, NM_000545.6 [P20823-1]
NP_001293108.1, NM_001306179.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.654455

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000538646; ENSP00000443964; ENSG00000135100 [P20823-4]
ENST00000540108; ENSP00000445445; ENSG00000135100 [P20823-8]
ENST00000541924; ENSP00000440361; ENSG00000135100 [P20823-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6927

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6927

UCSC genome browser

More...
UCSCi
uc021rfb.2 human [P20823-1]

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

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M57732 mRNA Translation: AAA88077.1
X71346 mRNA Translation: CAB59201.1
U72618
, U72612, U72613, U72614, U72615, U72616, U72617 Genomic DNA Translation: AAC51137.1
HM116552 mRNA Translation: ADM43489.1
HM116557 mRNA Translation: ADM43494.1
HM116558 mRNA Translation: ADM43495.1
HM449088 mRNA Translation: ADK56177.1
HM449089 mRNA Translation: ADK56178.1
EF641294 Genomic DNA Translation: ABR09270.1
AC079602 Genomic DNA No translation available.
CH471054 Genomic DNA Translation: EAW98226.1
BC104908 mRNA Translation: AAI04909.1
BC104910 mRNA Translation: AAI04911.1
CCDSiCCDS9209.1 [P20823-1]
PIRiA36749
RefSeqiNP_000536.5, NM_000545.6 [P20823-1]
NP_001293108.1, NM_001306179.1
UniGeneiHs.654455

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IC8X-ray2.60A/B85-278[»]
2GYPX-ray1.40A/B2-32[»]
ProteinModelPortaliP20823
SMRiP20823
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112789, 39 interactors
DIPiDIP-33544N
IntActiP20823, 11 interactors
MINTiP20823
STRINGi9606.ENSP00000257555

Chemistry databases

DrugBankiDB04419 Norleucine

PTM databases

iPTMnetiP20823
PhosphoSitePlusiP20823

Polymorphism and mutation databases

BioMutaiHNF1A
DMDMi51338763

Proteomic databases

MaxQBiP20823
PaxDbiP20823
PeptideAtlasiP20823
PRIDEiP20823
ProteomicsDBi53806
53807 [P20823-2]
53808 [P20823-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
6927
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000538646; ENSP00000443964; ENSG00000135100 [P20823-4]
ENST00000540108; ENSP00000445445; ENSG00000135100 [P20823-8]
ENST00000541924; ENSP00000440361; ENSG00000135100 [P20823-5]
GeneIDi6927
KEGGihsa:6927
UCSCiuc021rfb.2 human [P20823-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6927
DisGeNETi6927
EuPathDBiHostDB:ENSG00000135100.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HNF1A
GeneReviewsiHNF1A

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0036847
HGNCiHGNC:11621 HNF1A
HPAiHPA035231
MalaCardsiHNF1A
MIMi142330 phenotype
142410 gene
600496 phenotype
606391 phenotype
612520 phenotype
neXtProtiNX_P20823
OpenTargetsiENSG00000135100
Orphaneti319303 Chromophobe renal cell carcinoma
404511 Clear cell papillary renal cell carcinoma
324575 Hyperinsulinism due to HNF1A deficiency
552 MODY
PharmGKBiPA36380

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFA0 Eukaryota
ENOG410ZZZ0 LUCA
GeneTreeiENSGT00940000153818
HOGENOMiHOG000015305
HOVERGENiHBG005980
InParanoidiP20823
KOiK08036
PhylomeDBiP20823
TreeFamiTF320327

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
SignaLinkiP20823
SIGNORiP20823

Miscellaneous databases

EvolutionaryTraceiP20823

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HNF1A

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

More...
GenomeRNAii
6927

Protein Ontology

More...
PROi
PR:P20823

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000135100 Expressed in 95 organ(s), highest expression level in right lobe of liver
CleanExiHS_HNF1A
ExpressionAtlasiP20823 baseline and differential
GenevisibleiP20823 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
IPR006898 HNF1a_C
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
PF04813 HNF-1A_C, 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 nameiHNF1A_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: P20823
Secondary accession number(s): A5Z2R8
, E0YMJ5, E0YMK0, E0YMK1, E2I9R4, E2I9R5, F5H5U3, Q2M3H2, Q99861
<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: February 1, 1991
Last sequence update: August 16, 2004
Last modified: December 5, 2018
This is version 223 of the entry and version 2 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 12
    Human chromosome 12: 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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