Protein detail
HFE
Hereditary hemochromatosis protein (HLA-H)
Entry name HFE | UniProt ID | EVMP score 0.50 |
Frequency 1 | Transmembrane count 1 | Protein classification Disease related genesHuman disease related genesPredicted membrane proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Hereditary hemochromatosis protein (HLA-H)
Protein Class
Disease related genesHuman disease related genesPredicted membrane proteins
Protein Function
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of ion transport and metabolism
- Human disease related genes:Endocrine and metabolic diseases:Diabetes
Transmembrane
307..330; Helical
Transmembrane Count
1
Ensembl
Entrez Gene Symbol
Gene Synonym
HFE1HLA-H
Gene Description
Homeostatic iron regulator
Chromosome
6
Position
26087281-26098343
Frequency
1
EVMP Score
0.50
Fluorescence & Localization
Function & Pathway
Protein Function
- Disease related genes
- Human disease related genes:Congenital disorders of metabolism:Congenital disorders of ion transport and metabolism
- Human disease related genes:Endocrine and metabolic diseases:Diabetes
Cellular Component
- GO:0005615 extracellular space
- GO:0005654 nucleoplasm
- GO:0005769 early endosome
- GO:0005886 plasma membrane
- GO:0009897 external side of plasma membrane
- GO:0031410 cytoplasmic vesicle
- GO:0045177 apical part of cell
- GO:0045178 basal part of cell
- GO:0048471 perinuclear region of cytoplasm
- GO:0055037 recycling endosome
- GO:1990712 HFE-transferrin receptor complex
Molecular Function
Biological Process
Reactome
Mediation Categories
Adhesion and uptake mediationFusion and delivery mediationImmune mediationMetabolism mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
31 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| transmembrane_tmhmm | transmembrane_predicted | Almen2009 | No | No | No | Yes | No |
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Regulatory Interaction Network
0 records.
Protein Complex Composition
4 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| ADHFE1GMPRGMPR2MTHFD1NAXENPEPL1YJEFN3 | A6XGL0P11586P36959Q8IWW8Q8NCW5Q8NDH3Q9P2T1 | 0:0:0:0:0:0:0 | hu.MAP2 | |||
| ACSF3ADHFE1GCLMGMPRGMPR2 | P36959P48507Q4G176Q8IWW8Q9P2T1 | 0:0:0:0:0 | hu.MAP | |||
| ADHFE1GMPRGMPR2 | P36959Q8IWW8Q9P2T1 | 0:0:0 | hu.MAP | |||
| ACMSDADHFE1NPEPL1 | Q8IWW8Q8NDH3Q8TDX5 | 0:0:0 | hu.MAP2 |
Sequence, Structure & Domains
Sequences
Length
348
Mass
40,108
Sequence
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
Alternative Products
Event=Alternative splicing; Named isoforms=11; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q30201-1; Sequence=Displayed; Name=2; Synonyms=delE2; IsoId=Q30201-2; Sequence=VSP_003218; Name=3; Synonyms=del14E4; IsoId=Q30201-3; Sequence=VSP_003225; Name=4; Synonyms=delE214E4; IsoId=Q30201-4; Sequence=VSP_003218, VSP_003225; Name=5; IsoId=Q30201-5; Sequence=VSP_003219; Name=6; IsoId=Q30201-6; Sequence=VSP_047336, VSP_003220; Name=7; Synonyms=delE3; IsoId=Q30201-7; Sequence=VSP_003221; Name=8; Synonyms=1043-2283del,intron6ins; IsoId=Q30201-8; Sequence=VSP_003226, VSP_003227; Name=9; Synonyms=delE3-7; IsoId=Q30201-9; Sequence=VSP_003223, VSP_003224; Name=10; Synonyms=562-878del; IsoId=Q30201-10; Sequence=VSP_003222; Name=11; IsoId=Q30201-11; Sequence=VSP_043477, VSP_043478
Alternative Sequence
26..114; RSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKE -> Q (in isoform 2 and isoform 4); 26..49; RSHSLHYLFMGASEQDLGLSLFEA -> P (in isoform 5); 26; R -> Q (in isoform 11); 26; R -> L (in isoform 6); 27..298; Missing (in isoform 11); 27..206; Missing (in isoform 6); 114..219; Missing (in isoform 10); 114..205; Missing (in isoform 7); 144..161; DHLEFCPDTLDWRAAEPR -> VLQDTIYSSEVSSLGIKF (in isoform 9); 162..348; Missing (in isoform 9); 207..220; Missing (in isoform 3 and isoform 4); 275..276; GE -> KY (in isoform 8); 277..348; Missing (in isoform 8)
3D Structural Models
Turn
79..82; 108..110; 199..201
Helix
75..78; 83..107; 150..152; 160..162; 163..170; 174..184; 186..198; 248..250; 276..279
Beta Strand
28..38; 43..45; 48..53; 56..65; 68..70; 112..114; 117..126; 132..140; 143..149; 154..159; 209..216; 221..233; 236..241; 255..258; 264..272; 280..285; 289..291; 293..296
3D Structure
X-ray crystallography (2)
Domain & Motif Annotations
Domain (FT)
207..298; Ig-like C1-type
Region
23..114; Alpha-1; 115..205; Alpha-2; 206..297; Alpha-3; 298..306; Connecting peptide
Protein Families
MHC class I family
Sequence Similarities
Belongs to the MHC class I family.
Clinical Relevance
Disease Involvement
Disease variant
Interaction Protein
ENSG00000072274ENSG00000166710
Interaction Count
2
Interaction Dataset
intact_biogrid