Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Hepatocyte nuclear factor 4-alpha

Gene

HNF4A

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

Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.

Miscellaneous

Binds fatty acids.

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 bindingi57 – 132Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

<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 functionDNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-210745 Regulation of gene expression in beta cells
R-HSA-383280 Nuclear Receptor transcription pathway

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

More...
SignaLinki
P41235

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P41235

<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 4-alpha
Short name:
HNF-4-alpha
Alternative name(s):
Nuclear receptor subfamily 2 group A member 1
Transcription factor 14
Short name:
TCF-14
Transcription factor HNF-4
<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:HNF4A
Synonyms:HNF4, NR2A1, TCF14
<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 20

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000101076.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5024 HNF4A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600281 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P41235

<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

Maturity-onset diabetes of the young 1 (MODY1)4 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:125850
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_004668136R → W in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853336Ensembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853338EnsemblClinVar.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_004670402V → I in NIDDM; reduced transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs137853337Ensembl.1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.
See also OMIM:616026
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07195185R → W in FRTS4. 2 PublicationsCorresponds to variant dbSNP:rs587777732EnsemblClinVar.1

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>Mutagenesisi313S → A: Abolishes AMPK-mediated phosphorylation. 1 Publication1
Mutagenesisi313S → D: Phosphomimetic mutant that leads to reduced ability to bind DNA. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3172

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

More...
GeneReviewsi
HNF4A

MalaCards human disease database

More...
MalaCardsi
HNF4A
MIMi125850 phenotype
125853 phenotype
606391 phenotype
616026 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101076

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

More...
Orphaneti
263455 Hyperinsulinism due to HNF4A deficiency
552 MODY
93111 Renal cysts and diabetes syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29349

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5398

Drug and drug target database

More...
DrugBanki
DB05447 AVI-4557
DB03017 Lauric Acid
DB08231 MYRISTIC ACID

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HNF4A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
148886624

<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_00000535581 – 474Hepatocyte nuclear factor 4-alphaAdd BLAST474

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 residuei142Phosphoserine1 Publication1
Modified residuei143PhosphoserineBy similarity1
Modified residuei144PhosphotyrosineCombined sources1
Modified residuei166Phosphothreonine1 Publication1
Modified residuei167Phosphoserine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki234Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki307Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei313Phosphoserine; by AMPK1 Publication1
Modified residuei429PhosphothreonineCombined sources1
Modified residuei432PhosphothreonineCombined sources1 Publication1
Modified residuei436PhosphoserineCombined sources1 Publication1
Modified residuei458N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA.3 Publications
Acetylation at Lys-458 lowers transcriptional activation by about two-fold.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P41235

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

More...
PaxDbi
P41235

PeptideAtlas

More...
PeptideAtlasi
P41235

PRoteomics IDEntifications database

More...
PRIDEi
P41235

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55441
55442 [P41235-2]
55443 [P41235-3]
55444 [P41235-4]
55445 [P41235-5]
55446 [P41235-6]
55447 [P41235-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P41235

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

More...
PhosphoSitePlusi
P41235

<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

More...
Bgeei
ENSG00000101076 Expressed in 113 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P41235 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P41235 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB019417
HPA004712

<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

Homodimerization is required for HNF4-alpha to bind to its recognition site. Interacts with PER2.

<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
109414, 74 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
P41235

Database of interacting proteins

More...
DIPi
DIP-499N

Protein interaction database and analysis system

More...
IntActi
P41235, 15 interactors

Molecular INTeraction database

More...
MINTi
P41235

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312987

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P41235

<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

1474
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P41235

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

More...
SMRi
P41235

Database of comparative protein structure models

More...
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
P41235

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini147 – 377NR LBDPROSITE-ProRule annotationAdd BLAST231

<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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4215 Eukaryota
ENOG410XQT8 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157965

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG005606

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P41235

KEGG Orthology (KO)

More...
KOi
K07292

Identification of Orthologs from Complete Genome Data

More...
OMAi
KRMRYQV

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0A89

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P41235

TreeFam database of animal gene trees

More...
TreeFami
TF352097

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.50.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003068 COUP_TF
IPR039067 HNF4A
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA

The PANTHER Classification System

More...
PANTHERi
PTHR24083:SF41 PTHR24083:SF41, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01282 COUPTNFACTOR
PR00398 STRDHORMONER
PR00047 STROIDFINGER

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48508 SSF48508, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_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 (7+)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 7 <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 promoter usage and alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform HNF4-Alpha-1 (identifier: P41235-1) [UniParc]FASTAAdd to basket
Also known as: HNF-4B

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
MRLSKTLVDM DMADYSAALD PAYTTLEFEN VQVLTMGNDT SPSEGTNLNA
60 70 80 90 100
PNSLGVSALC AICGDRATGK HYGASSCDGC KGFFRRSVRK NHMYSCRFSR
110 120 130 140 150
QCVVDKDKRN QCRYCRLKKC FRAGMKKEAV QNERDRISTR RSSYEDSSLP
160 170 180 190 200
SINALLQAEV LSRQITSPVS GINGDIRAKK IASIADVCES MKEQLLVLVE
210 220 230 240 250
WAKYIPAFCE LPLDDQVALL RAHAGEHLLL GATKRSMVFK DVLLLGNDYI
260 270 280 290 300
VPRHCPELAE MSRVSIRILD ELVLPFQELQ IDDNEYAYLK AIIFFDPDAK
310 320 330 340 350
GLSDPGKIKR LRSQVQVSLE DYINDRQYDS RGRFGELLLL LPTLQSITWQ
360 370 380 390 400
MIEQIQFIKL FGMAKIDNLL QEMLLGGSPS DAPHAHHPLH PHLMQEHMGT
410 420 430 440 450
NVIVANTMPT HLSNGQMCEW PRPRGQAATP ETPQPSPPGG SGSEPYKLLP
460 470
GAVATIVKPL SAIPQPTITK QEVI
Note: Produced by alternative promoter usage.
Length:474
Mass (Da):52,785
Last modified:May 29, 2007 - v3
<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:i5F1309B89D95DCAF
GO
Isoform HNF4-Alpha-2 (identifier: P41235-2) [UniParc]FASTAAdd to basket
Also known as: HNF4-A

The sequence of this isoform differs from the canonical sequence as follows:
     418-428: CEWPRPRGQAA → S

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:464
Mass (Da):51,619
Checksum:iFF0A4FB233ADCC56
GO
Isoform HNF4-Alpha-3 (identifier: P41235-3) [UniParc]FASTAAdd to basket
Also known as: HNF4-C

The sequence of this isoform differs from the canonical sequence as follows:
     378-474: SPSDAPHAHH...QPTITKQEVI → PCQAQEGRGW...SPLCRFGQVA

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:417
Mass (Da):46,623
Checksum:iDE7D9F4F6436EFE2
GO
Isoform HNF4-Alpha-4 (identifier: P41235-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-38: N → NDLLPLRLARLRHPLRHHWSISGGVDSSPQG

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:504
Mass (Da):56,139
Checksum:iF291EFDE331E9338
GO
Isoform HNF4-Alpha-7 (identifier: P41235-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY

Note: Produced by alternative promoter usage.
Show »
Length:452
Mass (Da):50,150
Checksum:i96854D18F389B0F9
GO
Isoform HNF4-Alpha-8 (identifier: P41235-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY
     418-428: CEWPRPRGQAA → S

Note: Produced by alternative splicing of isoform HNF4-Alpha-7.
Show »
Length:442
Mass (Da):48,984
Checksum:i8FD1619FC51F7217
GO
Isoform HNF4-Alpha-9 (identifier: P41235-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY
     378-474: SPSDAPHAHH...QPTITKQEVI → PCQAQEGRGW...SPLCRFGQVA

Note: Produced by alternative splicing of isoform HNF4-Alpha-7.
Show »
Length:395
Mass (Da):43,988
Checksum:iDC25511938ED9EF0
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXV4A0A087WXV4_HUMAN
Hepatocyte nuclear factor 4-alpha
HNF4A
449Annotation 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>
B9VVT8B9VVT8_HUMAN
HNF4alpha10/11/12
HNF4A HNF4alpha
103Annotation 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>
F8WBS7F8WBS7_HUMAN
Hepatocyte nuclear factor 4-alpha
HNF4A
107Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB48082 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAA54248 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA61133 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated
The sequence CAA61134 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated
The sequence CAA61135 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 conflicti440G → A in CAA54248 (PubMed:7926813).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07195185R → W in FRTS4. 2 PublicationsCorresponds to variant dbSNP:rs587777732EnsemblClinVar.1
Natural variantiVAR_004668136R → W in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853336Ensembl.1
Natural variantiVAR_004669139T → I2 PublicationsCorresponds to variant dbSNP:rs1800961EnsemblClinVar.1
Natural variantiVAR_010600264V → M Rare polymorphism found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity. 2 PublicationsCorresponds to variant dbSNP:rs139779712Ensembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853338EnsemblClinVar.1
Natural variantiVAR_004670402V → I in NIDDM; reduced transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs137853337Ensembl.1
Natural variantiVAR_011785445P → S1 PublicationCorresponds to variant dbSNP:rs1063239EnsemblClinVar.1
Natural variantiVAR_062267453V → I1 PublicationCorresponds to variant dbSNP:rs776824742Ensembl.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_0260301 – 38MRLSK…LTMGN → MVSVNAPLGAPVESSY in isoform HNF4-Alpha-7, isoform HNF4-Alpha-8 and isoform HNF4-Alpha-9. CuratedAdd BLAST38
Alternative sequenceiVSP_00367338N → NDLLPLRLARLRHPLRHHWS ISGGVDSSPQG in isoform HNF4-Alpha-4. Curated1
Alternative sequenceiVSP_003675378 – 474SPSDA…KQEVI → PCQAQEGRGWSGDSPGDRPH TVSSPLSSLASPLCRFGQVA in isoform HNF4-Alpha-3 and isoform HNF4-Alpha-9. 2 PublicationsAdd BLAST97
Alternative sequenceiVSP_003674418 – 428CEWPRPRGQAA → S in isoform HNF4-Alpha-2 and isoform HNF4-Alpha-8. 1 PublicationAdd BLAST11

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
X87870 mRNA Translation: CAA61133.1 Frameshift.
X87871 mRNA Translation: CAA61134.1 Frameshift.
X87872 mRNA Translation: CAA61135.1 Frameshift.
Z49825 mRNA Translation: CAA89989.1
AY680696 mRNA Translation: AAT91237.1
AY680697 mRNA Translation: AAT91238.1
AY680698 mRNA Translation: AAT91239.1
U72969
, U72959, U72961, U72962, U72963, U72964, U72965, U72966, U72967, U72968 Genomic DNA Translation: AAB48082.1 Sequence problems.
U72967
, U72959, U72961, U72962, U72963, U72964, U72965, U72966 Genomic DNA Translation: AAB48083.1
EF591040 Genomic DNA Translation: ABQ52204.1
AL132772 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75924.1
CH471077 Genomic DNA Translation: EAW75925.1
BC137539 mRNA Translation: AAI37540.1
BC137540 mRNA Translation: AAI37541.1
X76930 mRNA Translation: CAA54248.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13330.1 [P41235-1]
CCDS13331.1 [P41235-3]
CCDS42876.1 [P41235-5]
CCDS46604.1 [P41235-6]
CCDS46605.1 [P41235-2]
CCDS68131.1 [P41235-7]

Protein sequence database of the Protein Information Resource

More...
PIRi
JC4937
JC4938
JC6096

NCBI Reference Sequences

More...
RefSeqi
NP_000448.3, NM_000457.4 [P41235-1]
NP_001025174.1, NM_001030003.2 [P41235-6]
NP_001025175.1, NM_001030004.2 [P41235-7]
NP_001245284.1, NM_001258355.1
NP_001274111.1, NM_001287182.1
NP_001274112.1, NM_001287183.1
NP_001274113.1, NM_001287184.1
NP_787110.2, NM_175914.4 [P41235-5]
NP_849181.1, NM_178850.2 [P41235-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.116462

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000316099; ENSP00000312987; ENSG00000101076 [P41235-1]
ENST00000316673; ENSP00000315180; ENSG00000101076 [P41235-5]
ENST00000415691; ENSP00000412111; ENSG00000101076 [P41235-2]
ENST00000443598; ENSP00000410911; ENSG00000101076 [P41235-3]
ENST00000457232; ENSP00000396216; ENSG00000101076 [P41235-6]
ENST00000609795; ENSP00000476609; ENSG00000101076 [P41235-7]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3172

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3172

UCSC genome browser

More...
UCSCi
uc002xlt.4 human [P41235-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, 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
X87870 mRNA Translation: CAA61133.1 Frameshift.
X87871 mRNA Translation: CAA61134.1 Frameshift.
X87872 mRNA Translation: CAA61135.1 Frameshift.
Z49825 mRNA Translation: CAA89989.1
AY680696 mRNA Translation: AAT91237.1
AY680697 mRNA Translation: AAT91238.1
AY680698 mRNA Translation: AAT91239.1
U72969
, U72959, U72961, U72962, U72963, U72964, U72965, U72966, U72967, U72968 Genomic DNA Translation: AAB48082.1 Sequence problems.
U72967
, U72959, U72961, U72962, U72963, U72964, U72965, U72966 Genomic DNA Translation: AAB48083.1
EF591040 Genomic DNA Translation: ABQ52204.1
AL132772 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75924.1
CH471077 Genomic DNA Translation: EAW75925.1
BC137539 mRNA Translation: AAI37540.1
BC137540 mRNA Translation: AAI37541.1
X76930 mRNA Translation: CAA54248.1 Different initiation.
CCDSiCCDS13330.1 [P41235-1]
CCDS13331.1 [P41235-3]
CCDS42876.1 [P41235-5]
CCDS46604.1 [P41235-6]
CCDS46605.1 [P41235-2]
CCDS68131.1 [P41235-7]
PIRiJC4937
JC4938
JC6096
RefSeqiNP_000448.3, NM_000457.4 [P41235-1]
NP_001025174.1, NM_001030003.2 [P41235-6]
NP_001025175.1, NM_001030004.2 [P41235-7]
NP_001245284.1, NM_001258355.1
NP_001274111.1, NM_001287182.1
NP_001274112.1, NM_001287183.1
NP_001274113.1, NM_001287184.1
NP_787110.2, NM_175914.4 [P41235-5]
NP_849181.1, NM_178850.2 [P41235-3]
UniGeneiHs.116462

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
1PZLX-ray2.10A142-378[»]
3CBBX-ray2.00A/B58-135[»]
3FS1X-ray2.20A148-377[»]
4B7WX-ray4.00A/B/C/D142-377[»]
4IQRX-ray2.90A/B/E/F55-377[»]
ProteinModelPortaliP41235
SMRiP41235
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109414, 74 interactors
CORUMiP41235
DIPiDIP-499N
IntActiP41235, 15 interactors
MINTiP41235
STRINGi9606.ENSP00000312987

Chemistry databases

BindingDBiP41235
ChEMBLiCHEMBL5398
DrugBankiDB05447 AVI-4557
DB03017 Lauric Acid
DB08231 MYRISTIC ACID

PTM databases

iPTMnetiP41235
PhosphoSitePlusiP41235

Polymorphism and mutation databases

BioMutaiHNF4A
DMDMi148886624

Proteomic databases

MaxQBiP41235
PaxDbiP41235
PeptideAtlasiP41235
PRIDEiP41235
ProteomicsDBi55441
55442 [P41235-2]
55443 [P41235-3]
55444 [P41235-4]
55445 [P41235-5]
55446 [P41235-6]
55447 [P41235-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316099; ENSP00000312987; ENSG00000101076 [P41235-1]
ENST00000316673; ENSP00000315180; ENSG00000101076 [P41235-5]
ENST00000415691; ENSP00000412111; ENSG00000101076 [P41235-2]
ENST00000443598; ENSP00000410911; ENSG00000101076 [P41235-3]
ENST00000457232; ENSP00000396216; ENSG00000101076 [P41235-6]
ENST00000609795; ENSP00000476609; ENSG00000101076 [P41235-7]
GeneIDi3172
KEGGihsa:3172
UCSCiuc002xlt.4 human [P41235-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3172
DisGeNETi3172
EuPathDBiHostDB:ENSG00000101076.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HNF4A
GeneReviewsiHNF4A
HGNCiHGNC:5024 HNF4A
HPAiCAB019417
HPA004712
MalaCardsiHNF4A
MIMi125850 phenotype
125853 phenotype
600281 gene
606391 phenotype
616026 phenotype
neXtProtiNX_P41235
OpenTargetsiENSG00000101076
Orphaneti263455 Hyperinsulinism due to HNF4A deficiency
552 MODY
93111 Renal cysts and diabetes syndrome
PharmGKBiPA29349

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4215 Eukaryota
ENOG410XQT8 LUCA
GeneTreeiENSGT00940000157965
HOVERGENiHBG005606
InParanoidiP41235
KOiK07292
OMAiKRMRYQV
OrthoDBiEOG091G0A89
PhylomeDBiP41235
TreeFamiTF352097

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
R-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP41235
SIGNORiP41235

Miscellaneous databases

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

More...
ChiTaRSi
HNF4A human
EvolutionaryTraceiP41235

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Hepatocyte_nuclear_factor_4_alpha

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

More...
GenomeRNAii
3172

Protein Ontology

More...
PROi
PR:P41235

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101076 Expressed in 113 organ(s), highest expression level in liver
ExpressionAtlasiP41235 baseline and differential
GenevisibleiP41235 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003068 COUP_TF
IPR039067 HNF4A
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PANTHERiPTHR24083:SF41 PTHR24083:SF41, 1 hit
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01282 COUPTNFACTOR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_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 nameiHNF4A_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: P41235
Secondary accession number(s): A5JW41
, B2RPP8, O00659, O00723, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
<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, 1995
Last sequence update: May 29, 2007
Last modified: December 5, 2018
This is version 217 of the entry and version 3 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 20
    Human chromosome 20: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again