HFE

HFE
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1DE4, 1A6Z
Dynodwyr
Cyfenwau	HFE, HFE1, HH, HLA-H, MVCD7, TFQTL2, HFE gene, hemochromatosis, homeostatic iron regulator
Dynodwyr allanol	OMIM: 613609 HomoloGene: 88330 GeneCards: HFE
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • peptide antigen binding • beta-2-microglobulin binding • co-receptor binding • GO:0001948, GO:0016582 protein binding • transferrin receptor binding • signaling receptor binding • natural killer cell lectin-like receptor binding Cydrannau o'r gell • integral component of membrane • recycling endosome • HFE-transferrin receptor complex • bilen • basal part of cell • Cellbilen • apical part of cell • integral component of plasma membrane • terminal web • early endosome • MHC class I protein complex • perinuclear region of cytoplasm • GO:0016023 cytoplasmic vesicle • external side of plasma membrane • extracellular space Prosesau biolegol • negative regulation of T cell antigen processing and presentation • positive regulation of peptide hormone secretion • positive regulation of receptor-mediated endocytosis • cellular response to iron ion • antigen processing and presentation • negative regulation of receptor binding • regulation of protein localization to cell surface • antigen processing and presentation of peptide antigen via MHC class I • female pregnancy • positive regulation of pathway-restricted SMAD protein phosphorylation • response to iron ion starvation • iron ion homeostasis • negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I • cludo ïon • BMP signaling pathway • cellular response to iron ion starvation • response to iron ion • multicellular organismal iron ion homeostasis • positive regulation of ferrous iron binding • positive regulation of transferrin receptor binding • positive regulation of signaling receptor activity • liver regeneration • GO:1901313 positive regulation of gene expression • negative regulation of T cell cytokine production • acute-phase response • negative regulation of proteasomal ubiquitin-dependent protein catabolic process • negative regulation of ubiquitin-dependent protein catabolic process • positive regulation of receptor binding • negative regulation of signaling receptor activity • positive regulation of protein binding • hormone biosynthetic process • negative regulation of CD8-positive, alpha-beta T cell activation • cellular iron ion homeostasis • iron ion import across plasma membrane • transferrin transport • GO:0034622 protein-containing complex assembly • T cell mediated cytotoxicity • GO:0046730, GO:0046737, GO:0046738, GO:0046736 immune response • natural killer cell activation • natural killer cell mediated cytotoxicity • susceptibility to natural killer cell mediated cytotoxicity • GO:1900400 regulation of iron ion transport Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3077	n/a
Ensembl	ENSG00000010704	n/a
UniProt	Q30201	n/a
RefSeq (mRNA)	NM_000410 NM_001300749 NM_139002 NM_139003 NM_139004 NM_139005 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010 NM_139011 NM_001384164	n/a
RefSeq (protein)	NP_000401 NP_001287678 NP_620572 NP_620573 NP_620575 NP_620576 NP_620577 NP_620578 NP_620579 NP_620580 NP_001371093	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn HFE yw HFE a elwir hefyd yn Hemochromatosis (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 6, band 6p22.2.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn HFE.

• HH
• HFE1
• HLA-H
• MVCD7
• TFQTL2

Llyfryddiaeth

• "Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele. ". Am J Hematol. 2017. PMID 29084376.
• "Ethnic and genetic factors of iron status in women of reproductive age. ". Am J Clin Nutr. 2017. PMID 29070555.
• "HFE mRNA expression is responsive to intracellular and extracellular iron loading: short communication. ". Mol Biol Rep. 2017. PMID 28840425.
• "ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency. ". PLoS One. 2017. PMID 28617828.
• "The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.". Immun Inflamm Dis. 2017. PMID 28474781.