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Tbio
HFE
Hereditary hemochromatosis protein

Protein Summary
Description
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000317896
  • ENSP00000313776
  • ENSG00000010704
  • ENST00000336625
  • ENSP00000337819
  • ENST00000349999
  • ENSP00000259699
  • ENST00000352392
  • ENSP00000315936
  • ENST00000353147
  • ENSP00000312342
  • ENST00000357618
  • ENSP00000417404
  • ENST00000397022
  • ENSP00000380217
  • ENST00000461397
  • ENSP00000420802
  • ENST00000488199
  • ENSP00000420559

Symbol
  • HLAH
  • HH
  • HFE1
  • HLA-H
  • MVCD7
  • TFQTL2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological term
1
trait
1
biological process
0.97
protein domain
0.97
disease
0.93


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2474.59   (req: < 5)
Gene RIFs: 504   (req: <= 3)
Antibodies: 318   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2474.59   (req: >= 5)
Gene RIFs: 504   (req: > 3)
Antibodies: 318   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 44
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Protein Data Bank (3)
1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (232)
Iron uptake and transport (R-HSA-917937)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 3 of 3
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Iron uptake and transport
Reactome
Transferrin endocytosis and recycling
Reactome
Transport of small molecules
Name
Explore in Pharos
Explore in Source
Iron uptake and transport
Transferrin endocytosis and recycling
Transport of small molecules
Gene Ontology Terms (56)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Protein-Protein Interactions (324)
1 – 10 of 324
SMPDL3B
Tbio
Family: Enzyme
Novelty: 0.15268942
p_int: 0.999994752
p_ni: 0.000005211
p_wrong: 3.7e-8
Data Source: BioPlex
TAPBP
Tbio
Novelty: 0.00308518
p_int: 0.999987165
p_ni: 0.000010476
p_wrong: 0.00000236
Score: 0.288
Data Source: BioPlex,STRINGDB
FUT4
Tbio
Family: Enzyme
Novelty: 0.00069228
p_int: 0.999986502
p_ni: 0.000011231
p_wrong: 0.000002267
Data Source: BioPlex
NMU
Tbio
Novelty: 0.00347523
p_int: 0.999964668
p_ni: 0.000035273
p_wrong: 5.9e-8
Data Source: BioPlex
RNF128
Tbio
Family: Enzyme
Novelty: 0.03254465
p_int: 0.999631169
p_ni: 0.000053894
p_wrong: 0.000314937
Data Source: BioPlex
UGT3A2
Tbio
Family: Enzyme
Novelty: 1.37837838
p_int: 0.999575371
p_ni: 0.000256965
p_wrong: 0.000167664
Data Source: BioPlex
CD55
Tbio
Novelty: 0.00064328
p_int: 0.999359815
p_ni: 0.000638531
p_wrong: 0.000001654
Data Source: BioPlex
SLC27A6
Tbio
Family: Transporter
Novelty: 0.01699786
p_int: 0.998990306
p_ni: 0.001009694
Data Source: BioPlex
NECTIN3
Tbio
Novelty: 0.02114497
p_int: 0.998961812
p_ni: 0.001013807
p_wrong: 0.000024381
Data Source: BioPlex
ST6GALNAC4
Tbio
Family: Enzyme
Novelty: 0.05394729
p_int: 0.998795109
p_ni: 0.000599188
p_wrong: 0.000605703
Data Source: BioPlex
Publication Statistics
PubMed Score  2474.59

PubMed score by year
PubTator Score  1740.3

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEP
1-70
RTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGY
70-140
DGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLV
140-210
KVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRY
210-280
TCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE
280-348
MGPRARPALLLLMLLQTAVLQGRLLRSHSLHYLFMGASEQDLGLSLFEALGYVDDQLFVFYDHESRRVEPRTPWVSSRISSQMWLQLSQSLKGWDHMFTVDFWTIMENHNHSKESHTLQVILGCEMQEDNSTEGYWKYGYDGQDHLEFCPDTLDWRAAEPRAWPTKLEWERHKIRARQNRAYLERDCPAQLQQLLELGRGVLDQQVPPLVKVTHHVTSSVTTLRCRALNYYPQNITMKWLKDKQPMDAKEFEPKDVLPNGDGTYQGWITLAVPPGEEQRYTCQVEHPGLDQPLIVIWEPSPSGTLVIGVISGIAVFVVILFIGILFIILRKRQGSRGAMGHYVLAERE