|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
HLA-H
|
|
gptkbp:associatedWith
|
gptkb:diabetes_mellitus
arthritis
liver cirrhosis
cardiomyopathy
iron overload
skin pigmentation
hereditary hemochromatosis
|
|
gptkbp:biologicalProcess
|
iron ion homeostasis
MHC class I receptor activity
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Feder et al.
|
|
gptkbp:discoveredIn
|
1996
|
|
gptkbp:encodes
|
gptkb:HFE_protein
|
|
gptkbp:Entrez_Gene_ID
|
3077
ENSG00000010704
rs1799945
rs1800562
rs1800730
|
|
gptkbp:expressedIn
|
liver
intestine
|
|
gptkbp:function
|
regulation of iron absorption
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_000410.3
|
|
gptkbp:HGNC_ID
|
4886
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HFE gene
|
|
gptkbp:inheritance
|
autosomal recessive
Mendelian
|
|
gptkbp:interactsWith
|
gptkb:transferrin_receptor_1
gptkb:beta-2_microglobulin
|
|
gptkbp:length
|
343 amino acids
approximately 4 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_6
|
|
gptkbp:locusType
|
gptkb:6p21.3
|
|
gptkbp:mutationAssociatedWith
|
C282Y
H63D
S65C
|
|
gptkbp:numberOfExons
|
7
|
|
gptkbp:OMIM
|
613609
|
|
gptkbp:orthologIn
|
gptkb:HFE
|
|
gptkbp:orthologInMouse
|
gptkb:Hfe
|
|
gptkbp:pathway
|
iron homeostasis
MHC class I protein complex
|
|
gptkbp:proteinFamily
|
gptkb:MHC_class_I_family
immunoglobulin-like domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:symbol
|
gptkb:HFE
|
|
gptkbp:UniProtID
|
Q30201
|
|
gptkbp:bfsParent
|
gptkb:6p21.3
gptkb:chromosome_6_(human)
gptkb:HFE_protein
|
|
gptkbp:bfsLayer
|
7
|