Protein detail

HFE

Hereditary hemochromatosis protein (HLA-H)

Protein symbol HFE	UniProt ID Q30201	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

Ensembl

ENSG00000010704

Entrez Gene Symbol

HFE

Gene Synonym

HFE1HLA-H

Gene Description

Homeostatic iron regulator

Chromosome

Position

26087281-26098343

Frequency

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

Molecular Function

Biological Process

KEGG

hsa04350 TGF-beta signaling pathway

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	transmembrane	UniProt_location	No	No	No	Yes	No
transmembrane	transmembrane	UniProt_topology	No	No	No	Yes	No
transmembrane	transmembrane	UniProt_keyword	No	No	No	Yes	No
transmembrane	transmembrane	OmniPath	No	No	No	Yes	No
transmembrane_predicted	transmembrane	OmniPath	No	No	No	Yes	No
transmembrane	transmembrane	CellPhoneDB	No	No	No	Yes	No
transmembrane	transmembrane	TopDB	No	No	No	Yes	No
transmembrane	transmembrane	LOCATE	No	No	No	Yes	No
transmembrane	transmembrane	Ramilowski_location	No	No	No	Yes	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	Yes	No

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Regulatory Interaction Network

0 records.

Protein Complex Composition

4 records.

Component Gene Symbols	Component UniProt ID	Stoichiometry	Database
ADHFE1 GMPR GMPR2 MTHFD1 NAXE NPEPL1 YJEFN3	A6XGL0 P11586 P36959 Q8IWW8 Q8NCW5 Q8NDH3 Q9P2T1	0:0:0:0:0:0:0	hu.MAP2
ACSF3 ADHFE1 GCLM GMPR GMPR2	P36959 P48507 Q4G176 Q8IWW8 Q9P2T1	0:0:0:0:0	hu.MAP
ADHFE1 GMPR GMPR2	P36959 Q8IWW8 Q9P2T1	0:0:0	hu.MAP
ACMSD ADHFE1 NPEPL1	Q8IWW8 Q8NDH3 Q8TDX5	0:0:0	hu.MAP2

Isolation & Detection Technology

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential UltracentrifugationUltrafiltration / Tangential Flow Filtration	Western blotting	3	38731868 24393738 33709510

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

Drugs

ADALIMUMAB-ADBM EPOETIN ALFA IRON CARBONYL PAZOPANIB

Antibody

HPA017276 HPA053470

Interaction Protein

ENSG00000072274ENSG00000166710

Interaction Count

Interaction Dataset

intact_biogrid