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Protein

Hereditary hemochromatosis protein

Gene

HFE

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

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.1 Publication

<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

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-917977 Transferrin endocytosis and recycling

<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:
Hereditary hemochromatosis protein
Alternative name(s):
HLA-H
<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:HFE
Synonyms:HLAH
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000010704.18

Human Gene Nomenclature Database

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HGNCi
HGNC:4886 HFE

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613609 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q30201

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 306Extracellular1 PublicationAdd BLAST284
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei307 – 330HelicalSequence analysisAdd BLAST24
Topological domaini331 – 348Cytoplasmic1 PublicationAdd BLAST18

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Hemochromatosis 1 (HFE1)18 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
See also OMIM:235200
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_0425066R → S in HFE1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149342416EnsemblClinVar.1
Natural variantiVAR_04250743G → D in HFE1; associated with D-63 in one patient. 1 Publication1
Natural variantiVAR_00439765S → C in HFE1; mild form. 5 PublicationsCorresponds to variant dbSNP:rs1800730EnsemblClinVar.1
Natural variantiVAR_04250866R → C in HFE1. 1 PublicationCorresponds to variant dbSNP:rs747739169Ensembl.1
Natural variantiVAR_00872993G → R in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934597EnsemblClinVar.1
Natural variantiVAR_008730105I → T in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934596EnsemblClinVar.1
Natural variantiVAR_008113127Q → H in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934595EnsemblClinVar.1
Natural variantiVAR_042509176A → V in HFE1; uncertain pathological significance. 1 Publication1
Natural variantiVAR_042510224R → G in HFE1. 1 Publication1
Natural variantiVAR_004398282C → Y in HFE1; associated with susceptibility to porphyria cutanea tarda; associated with increased serum transferrin levels; higher frequency in patients with type 2 diabetes than in controls. 12 PublicationsCorresponds to variant dbSNP:rs1800562EnsemblClinVar.1
Natural variantiVAR_037304283Q → P in HFE1; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake. 2 PublicationsCorresponds to variant dbSNP:rs111033563EnsemblClinVar.1
Natural variantiVAR_042511295V → A in HFE1. 2 PublicationsCorresponds to variant dbSNP:rs143175221EnsemblClinVar.1
Natural variantiVAR_008114330R → M in HFE1. 1 PublicationCorresponds to variant dbSNP:rs111033558EnsemblClinVar.1
Variegate porphyria (VP)
Disease susceptibility is associated with variations affecting the gene represented in this entry. Iron overload due to HFE variants is a precipitating or exacerbating factor in variegate porphyria.
Disease descriptionA form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease.
See also OMIM:176200
Microvascular complications of diabetes 7 (MVCD7)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionPathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis.
See also OMIM:612635

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3077

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

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GeneReviewsi
HFE

MalaCards human disease database

More...
MalaCardsi
HFE
MIMi176200 phenotype
235200 phenotype
612635 phenotype
614193 phenotype

Open Targets

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OpenTargetsi
ENSG00000010704

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

More...
Orphaneti
443062 Familial porphyria cutanea tarda
139498 NON RARE IN EUROPE: Hemochromatosis type 1
443057 Sporadic porphyria cutanea tarda
465508 Symptomatic form of hemochromatosis type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29263

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HFE

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2497915

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Add BLAST22
<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_000001889223 – 348Hereditary hemochromatosis proteinAdd BLAST326

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi110N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi124 ↔ 187
Glycosylationi130N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi225 ↔ 282
Glycosylationi234N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q30201

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

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PaxDbi
Q30201

PeptideAtlas

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PeptideAtlasi
Q30201

PRoteomics IDEntifications database

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PRIDEi
Q30201

ProteomicsDB human proteome resource

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ProteomicsDBi
61558
61559 [Q30201-10]
61560 [Q30201-11]
61561 [Q30201-2]
61562 [Q30201-3]
61563 [Q30201-4]
61564 [Q30201-5]
61565 [Q30201-6]
61566 [Q30201-7]
61567 [Q30201-8]
61568 [Q30201-9]

Consortium for Top Down Proteomics

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TopDownProteomicsi
Q30201-1 [Q30201-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q30201

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

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PhosphoSitePlusi
Q30201

<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

Expressed in all tissues tested except brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000010704 Expressed in 196 organ(s), highest expression level in mononuclear cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q30201 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q30201 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA017276
HPA053470

<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 TFR through the extracellular domain in a pH-dependent manner.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)

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BioGridi
109325, 95 interactors

Database of interacting proteins

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DIPi
DIP-2737N

Protein interaction database and analysis system

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IntActi
Q30201, 8 interactors

Molecular INTeraction database

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MINTi
Q30201

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417404

<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

1348
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
Q30201

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

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SMRi
Q30201

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q30201

<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>Domaini207 – 298Ig-like C1-typeAdd BLAST92

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>Regioni23 – 114Alpha-1Add BLAST92
Regioni115 – 205Alpha-2Add BLAST91
Regioni206 – 297Alpha-3Add BLAST92
Regioni298 – 306Connecting peptide9

<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 MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFNV Eukaryota
ENOG4111CQR LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153637

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000151270

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG016709

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q30201

Identification of Orthologs from Complete Genome Data

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OMAi
QLFVSYD

Database of Orthologous Groups

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OrthoDBi
EOG091G0K1X

Database for complete collections of gene phylogenies

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PhylomeDBi
Q30201

TreeFam database of animal gene trees

More...
TreeFami
TF336617

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 1 hit
3.30.500.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031092 HFE
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
IPR011161 MHC_I-like_Ag-recog
IPR037055 MHC_I-like_Ag-recog_sf
IPR011162 MHC_I/II-like_Ag-recog
IPR001039 MHC_I_a_a1/a2

The PANTHER Classification System

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PANTHERi
PTHR16675:SF172 PTHR16675:SF172, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF07654 C1-set, 1 hit
PF00129 MHC_I, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01638 MHCCLASSI

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00407 IGc1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 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 (11+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 11 <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
Note: Additional isoforms seem to exist.

This entry has 11 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q30201-1) [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
MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL
60 70 80 90 100
GYVDDQLFVF YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV
110 120 130 140 150
DFWTIMENHN HSKESHTLQV ILGCEMQEDN STEGYWKYGY DGQDHLEFCP
160 170 180 190 200
DTLDWRAAEP RAWPTKLEWE RHKIRARQNR AYLERDCPAQ LQQLLELGRG
210 220 230 240 250
VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL KDKQPMDAKE
260 270 280 290 300
FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
310 320 330 340
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Length:348
Mass (Da):40,108
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i432EB9A314A55BEA
GO
Isoform 2 (identifier: Q30201-2) [UniParc]FASTAAdd to basket
Also known as: delE2

The sequence of this isoform differs from the canonical sequence as follows:
     26-114: RSHSLHYLFM...IMENHNHSKE → Q

Show »
Length:260
Mass (Da):29,633
Checksum:iC30AC94F06A81AAA
GO
Isoform 3 (identifier: Q30201-3) [UniParc]FASTAAdd to basket
Also known as: del14E4

The sequence of this isoform differs from the canonical sequence as follows:
     207-220: Missing.

Show »
Length:334
Mass (Da):38,625
Checksum:i811D9D68BB9D7F3A
GO
Isoform 4 (identifier: Q30201-4) [UniParc]FASTAAdd to basket
Also known as: delE214E4

The sequence of this isoform differs from the canonical sequence as follows:
     26-114: RSHSLHYLFM...IMENHNHSKE → Q
     207-220: Missing.

Show »
Length:246
Mass (Da):28,151
Checksum:i47B79FE7B8B49A0A
GO
Isoform 5 (identifier: Q30201-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-49: RSHSLHYLFMGASEQDLGLSLFEA → P

Show »
Length:325
Mass (Da):37,514
Checksum:i626343ACFAA862EF
GO
Isoform 6 (identifier: Q30201-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-26: R → L
     27-206: Missing.

Show »
Length:168
Mass (Da):18,734
Checksum:i525C7094CEE850F9
GO
Isoform 7 (identifier: Q30201-7) [UniParc]FASTAAdd to basket
Also known as: delE3

The sequence of this isoform differs from the canonical sequence as follows:
     114-205: Missing.

Show »
Length:256
Mass (Da):29,194
Checksum:i0E810B1BBACDF0BF
GO
Isoform 8 (identifier: Q30201-8) [UniParc]FASTAAdd to basket
Also known as: 1043-2283del,intron6ins

The sequence of this isoform differs from the canonical sequence as follows:
     275-276: GE → KY
     277-348: Missing.

Show »
Length:276
Mass (Da):32,243
Checksum:i3E0D2762D7476B82
GO
Isoform 9 (identifier: Q30201-9) [UniParc]FASTAAdd to basket
Also known as: delE3-7

The sequence of this isoform differs from the canonical sequence as follows:
     144-161: DHLEFCPDTLDWRAAEPR → VLQDTIYSSEVSSLGIKF
     162-348: Missing.

Show »
Length:161
Mass (Da):18,651
Checksum:i5E288C5835DC3784
GO
Isoform 10 (identifier: Q30201-10) [UniParc]FASTAAdd to basket
Also known as: 562-878del

The sequence of this isoform differs from the canonical sequence as follows:
     114-219: Missing.

Show »
Length:242
Mass (Da):27,711
Checksum:iE423FF903128DB74
GO
Isoform 11 (identifier: Q30201-11) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-26: R → Q
     27-298: Missing.

Note: No experimental confirmation available.
Show »
Length:76
Mass (Da):8,208
Checksum:iB56810C036B9BEE9
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
F8W7W8F8W7W8_HUMAN
Hereditary hemochromatosis protein
HFE
337Annotation 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>
Q6B0J5Q6B0J5_HUMAN
HFE protein
HFE
345Annotation 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>
H7C4K4H7C4K4_HUMAN
Hereditary hemochromatosis protein
HFE
55Annotation 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
<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 conflicti230Y → H in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti248A → T in AAG29575 (PubMed:11358357).Curated1
Sequence conflicti256V → A in AAG29577 (PubMed:11358357).Curated1
Sequence conflicti275G → E in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti311S → R in AAG29342 (PubMed:11358357).Curated1
Sequence conflicti339M → V in AAG29577 (PubMed:11358357).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

Genetic variations in HFE define the transferrin serum level quantitative trait locus 2 (TFQTL2) [MIMi:614193]. Iron is essential for biochemical functions such as oxygen transport and oxidative phosphorylation. Excessive iron can cause iron-overload-related liver diseases, whereas iron deficiency can lead to anemia. Iron status can be assessed by measuring the levels of serum iron, serum transferrin, transferrin saturation with iron, and serum ferritin.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0425066R → S in HFE1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149342416EnsemblClinVar.1
Natural variantiVAR_04250743G → D in HFE1; associated with D-63 in one patient. 1 Publication1
Natural variantiVAR_00811153V → M2 PublicationsCorresponds to variant dbSNP:rs28934889EnsemblClinVar.1
Natural variantiVAR_00811259V → M1 PublicationCorresponds to variant dbSNP:rs111033557EnsemblClinVar.1
Natural variantiVAR_00439663H → D Polymorphism associated with hemochromatosis and variegate porphyria; increased frequency among patients with diabetic nephropathy. 11 PublicationsCorresponds to variant dbSNP:rs1799945EnsemblClinVar.1
Natural variantiVAR_00439765S → C in HFE1; mild form. 5 PublicationsCorresponds to variant dbSNP:rs1800730EnsemblClinVar.1
Natural variantiVAR_04250866R → C in HFE1. 1 PublicationCorresponds to variant dbSNP:rs747739169Ensembl.1
Natural variantiVAR_00872993G → R in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934597EnsemblClinVar.1
Natural variantiVAR_008730105I → T in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934596EnsemblClinVar.1
Natural variantiVAR_008113127Q → H in HFE1. 1 PublicationCorresponds to variant dbSNP:rs28934595EnsemblClinVar.1
Natural variantiVAR_042509176A → V in HFE1; uncertain pathological significance. 1 Publication1
Natural variantiVAR_020270217T → I. Corresponds to variant dbSNP:rs4986950Ensembl.1
Natural variantiVAR_042510224R → G in HFE1. 1 Publication1
Natural variantiVAR_062279224R → Q1 PublicationCorresponds to variant dbSNP:rs62625346Ensembl.1
Natural variantiVAR_008731277E → K Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs140080192EnsemblClinVar.1
Natural variantiVAR_004398282C → Y in HFE1; associated with susceptibility to porphyria cutanea tarda; associated with increased serum transferrin levels; higher frequency in patients with type 2 diabetes than in controls. 12 PublicationsCorresponds to variant dbSNP:rs1800562EnsemblClinVar.1
Natural variantiVAR_037304283Q → P in HFE1; destabilizing effect on the tertiary structure of the protein; prevents the normal interaction between HFE and B2M and between HFE and TFRC; decreases the capacity of HFE to reduce transferrin-mediated iron uptake. 2 PublicationsCorresponds to variant dbSNP:rs111033563EnsemblClinVar.1
Natural variantiVAR_042511295V → A in HFE1. 2 PublicationsCorresponds to variant dbSNP:rs143175221EnsemblClinVar.1
Natural variantiVAR_008114330R → M in HFE1. 1 PublicationCorresponds to variant dbSNP:rs111033558EnsemblClinVar.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_00321826 – 114RSHSL…NHSKE → Q in isoform 2 and isoform 4. 2 PublicationsAdd BLAST89
Alternative sequenceiVSP_00321926 – 49RSHSL…SLFEA → P in isoform 5. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_04347726R → Q in isoform 11. 1 Publication1
Alternative sequenceiVSP_04733626R → L in isoform 6. 1 Publication1
Alternative sequenceiVSP_04347827 – 298Missing in isoform 11. 1 PublicationAdd BLAST272
Alternative sequenceiVSP_00322027 – 206Missing in isoform 6. 1 PublicationAdd BLAST180
Alternative sequenceiVSP_003222114 – 219Missing in isoform 10. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_003221114 – 205Missing in isoform 7. 2 PublicationsAdd BLAST92
Alternative sequenceiVSP_003223144 – 161DHLEF…AAEPR → VLQDTIYSSEVSSLGIKF in isoform 9. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_003224162 – 348Missing in isoform 9. 1 PublicationAdd BLAST187
Alternative sequenceiVSP_003225207 – 220Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_003226275 – 276GE → KY in isoform 8. 1 Publication2
Alternative sequenceiVSP_003227277 – 348Missing in isoform 8. 1 PublicationAdd BLAST72

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
U60319 mRNA Translation: AAC51823.1
U91328 Genomic DNA Translation: AAB82083.1
Z92910 Genomic DNA Translation: CAB07442.1
Y09801
, Y09800, Y09803, Y09799 Genomic DNA Translation: CAA70934.1
AF079407 mRNA Translation: AAC62646.1
AF079408 mRNA Translation: AAC62647.1
AF079409 mRNA Translation: AAC62648.1
AF115264 mRNA Translation: AAG29571.1
AF115265 mRNA Translation: AAG29572.1
AF144240 mRNA Translation: AAG29575.1
AF144242 mRNA Translation: AAG29577.1
AF149804 mRNA Translation: AAG29342.1
AJ249335 mRNA Translation: CAC67792.1
AJ249336 mRNA Translation: CAC67793.1
AJ249337 mRNA Translation: CAC67794.1
AJ249338 mRNA Translation: CAC67795.1
AJ250635 mRNA Translation: CAC80805.1
EU523119 Genomic DNA Translation: ACB21042.1
CH471087 Genomic DNA Translation: EAW55524.1
CH471087 Genomic DNA Translation: EAW55526.1
BC117201 mRNA Translation: AAI17202.1
BC117203 mRNA Translation: AAI17204.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4578.1 [Q30201-1]
CCDS4579.1 [Q30201-7]
CCDS4580.1 [Q30201-2]
CCDS4581.1 [Q30201-6]
CCDS4582.1 [Q30201-11]
CCDS47386.1 [Q30201-10]
CCDS47387.1 [Q30201-5]
CCDS54974.1 [Q30201-3]
CCDS54975.1 [Q30201-4]

NCBI Reference Sequences

More...
RefSeqi
NP_000401.1, NM_000410.3 [Q30201-1]
NP_001287678.1, NM_001300749.1
NP_620572.1, NM_139003.2 [Q30201-10]
NP_620573.1, NM_139004.2 [Q30201-7]
NP_620575.1, NM_139006.2 [Q30201-3]
NP_620576.1, NM_139007.2 [Q30201-2]
NP_620577.1, NM_139008.2 [Q30201-4]
NP_620578.1, NM_139009.2 [Q30201-5]
NP_620579.1, NM_139010.2 [Q30201-6]
NP_620580.1, NM_139011.2 [Q30201-11]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.233325

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317896; ENSP00000313776; ENSG00000010704 [Q30201-7]
ENST00000336625; ENSP00000337819; ENSG00000010704 [Q30201-10]
ENST00000349999; ENSP00000259699; ENSG00000010704 [Q30201-2]
ENST00000352392; ENSP00000315936; ENSG00000010704 [Q30201-11]
ENST00000353147; ENSP00000312342; ENSG00000010704 [Q30201-6]
ENST00000357618; ENSP00000417404; ENSG00000010704 [Q30201-1]
ENST00000397022; ENSP00000380217; ENSG00000010704 [Q30201-5]
ENST00000461397; ENSP00000420802; ENSG00000010704 [Q30201-3]
ENST00000488199; ENSP00000420559; ENSG00000010704 [Q30201-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3077

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3077

UCSC genome browser

More...
UCSCi
uc003nfx.2 human [Q30201-1]

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

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U60319 mRNA Translation: AAC51823.1
U91328 Genomic DNA Translation: AAB82083.1
Z92910 Genomic DNA Translation: CAB07442.1
Y09801
, Y09800, Y09803, Y09799 Genomic DNA Translation: CAA70934.1
AF079407 mRNA Translation: AAC62646.1
AF079408 mRNA Translation: AAC62647.1
AF079409 mRNA Translation: AAC62648.1
AF115264 mRNA Translation: AAG29571.1
AF115265 mRNA Translation: AAG29572.1
AF144240 mRNA Translation: AAG29575.1
AF144242 mRNA Translation: AAG29577.1
AF149804 mRNA Translation: AAG29342.1
AJ249335 mRNA Translation: CAC67792.1
AJ249336 mRNA Translation: CAC67793.1
AJ249337 mRNA Translation: CAC67794.1
AJ249338 mRNA Translation: CAC67795.1
AJ250635 mRNA Translation: CAC80805.1
EU523119 Genomic DNA Translation: ACB21042.1
CH471087 Genomic DNA Translation: EAW55524.1
CH471087 Genomic DNA Translation: EAW55526.1
BC117201 mRNA Translation: AAI17202.1
BC117203 mRNA Translation: AAI17204.1
CCDSiCCDS4578.1 [Q30201-1]
CCDS4579.1 [Q30201-7]
CCDS4580.1 [Q30201-2]
CCDS4581.1 [Q30201-6]
CCDS4582.1 [Q30201-11]
CCDS47386.1 [Q30201-10]
CCDS47387.1 [Q30201-5]
CCDS54974.1 [Q30201-3]
CCDS54975.1 [Q30201-4]
RefSeqiNP_000401.1, NM_000410.3 [Q30201-1]
NP_001287678.1, NM_001300749.1
NP_620572.1, NM_139003.2 [Q30201-10]
NP_620573.1, NM_139004.2 [Q30201-7]
NP_620575.1, NM_139006.2 [Q30201-3]
NP_620576.1, NM_139007.2 [Q30201-2]
NP_620577.1, NM_139008.2 [Q30201-4]
NP_620578.1, NM_139009.2 [Q30201-5]
NP_620579.1, NM_139010.2 [Q30201-6]
NP_620580.1, NM_139011.2 [Q30201-11]
UniGeneiHs.233325

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
1A6ZX-ray2.60A/C23-297[»]
1C42model-A26-293[»]
1DE4X-ray2.80A/D/G23-297[»]
ProteinModelPortaliQ30201
SMRiQ30201
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109325, 95 interactors
DIPiDIP-2737N
IntActiQ30201, 8 interactors
MINTiQ30201
STRINGi9606.ENSP00000417404

PTM databases

iPTMnetiQ30201
PhosphoSitePlusiQ30201

Polymorphism and mutation databases

BioMutaiHFE
DMDMi2497915

Proteomic databases

MaxQBiQ30201
PaxDbiQ30201
PeptideAtlasiQ30201
PRIDEiQ30201
ProteomicsDBi61558
61559 [Q30201-10]
61560 [Q30201-11]
61561 [Q30201-2]
61562 [Q30201-3]
61563 [Q30201-4]
61564 [Q30201-5]
61565 [Q30201-6]
61566 [Q30201-7]
61567 [Q30201-8]
61568 [Q30201-9]
TopDownProteomicsiQ30201-1 [Q30201-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3077
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317896; ENSP00000313776; ENSG00000010704 [Q30201-7]
ENST00000336625; ENSP00000337819; ENSG00000010704 [Q30201-10]
ENST00000349999; ENSP00000259699; ENSG00000010704 [Q30201-2]
ENST00000352392; ENSP00000315936; ENSG00000010704 [Q30201-11]
ENST00000353147; ENSP00000312342; ENSG00000010704 [Q30201-6]
ENST00000357618; ENSP00000417404; ENSG00000010704 [Q30201-1]
ENST00000397022; ENSP00000380217; ENSG00000010704 [Q30201-5]
ENST00000461397; ENSP00000420802; ENSG00000010704 [Q30201-3]
ENST00000488199; ENSP00000420559; ENSG00000010704 [Q30201-4]
GeneIDi3077
KEGGihsa:3077
UCSCiuc003nfx.2 human [Q30201-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3077
DisGeNETi3077
EuPathDBiHostDB:ENSG00000010704.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HFE
GeneReviewsiHFE

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0025100
HGNCiHGNC:4886 HFE
HPAiHPA017276
HPA053470
MalaCardsiHFE
MIMi176200 phenotype
235200 phenotype
612635 phenotype
613609 gene
614193 phenotype
neXtProtiNX_Q30201
OpenTargetsiENSG00000010704
Orphaneti443062 Familial porphyria cutanea tarda
139498 NON RARE IN EUROPE: Hemochromatosis type 1
443057 Sporadic porphyria cutanea tarda
465508 Symptomatic form of hemochromatosis type 1
PharmGKBiPA29263

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFNV Eukaryota
ENOG4111CQR LUCA
GeneTreeiENSGT00940000153637
HOGENOMiHOG000151270
HOVERGENiHBG016709
InParanoidiQ30201
OMAiQLFVSYD
OrthoDBiEOG091G0K1X
PhylomeDBiQ30201
TreeFamiTF336617

Enzyme and pathway databases

ReactomeiR-HSA-917977 Transferrin endocytosis and recycling

Miscellaneous databases

EvolutionaryTraceiQ30201

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HFE_(gene)

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

More...
GenomeRNAii
3077

Protein Ontology

More...
PROi
PR:Q30201

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000010704 Expressed in 196 organ(s), highest expression level in mononuclear cell
ExpressionAtlasiQ30201 baseline and differential
GenevisibleiQ30201 HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
3.30.500.10, 1 hit
InterProiView protein in InterPro
IPR031092 HFE
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
IPR011161 MHC_I-like_Ag-recog
IPR037055 MHC_I-like_Ag-recog_sf
IPR011162 MHC_I/II-like_Ag-recog
IPR001039 MHC_I_a_a1/a2
PANTHERiPTHR16675:SF172 PTHR16675:SF172, 1 hit
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00129 MHC_I, 1 hit
PRINTSiPR01638 MHCCLASSI
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 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 nameiHFE_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: Q30201
Secondary accession number(s): B2CKL0
, O75929, O75930, O75931, Q17RT0, Q96KU5, Q96KU6, Q96KU7, Q96KU8, Q9HC64, Q9HC68, Q9HC70, Q9HC83
<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: November 1, 1997
Last sequence update: November 1, 1997
Last modified: December 5, 2018
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 6
    Human chromosome 6: 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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