HUMAN:HFE

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	HFE (synonyms: HLAH)
Protein Name(s)	Hereditary hemochromatosis protein HLA-H
External Links
UniProt	Q30201
EMBL	U60319 U91328 Z92910 Y09801 Y09800 Y09803 Y09799 AF079407 AF079408 AF079409 AF115264 AF115265 AF144240 AF144242 AF149804 AJ249335 AJ249336 AJ249337 AJ249338 AJ250635 EU523119 CH471087 CH471087 BC117201 BC117203
CCDS	CCDS4578.1 CCDS4579.1 CCDS4580.1 CCDS4581.1 CCDS4582.1 CCDS47386.1 CCDS47387.1 CCDS54974.1 CCDS54975.1
RefSeq	NP_000401.1 NP_001287678.1 NP_620572.1 NP_620573.1 NP_620575.1 NP_620576.1 NP_620577.1 NP_620578.1 NP_620579.1 NP_620580.1
UniGene	Hs.233325
PDB	1A6Z 1C42 1DE4
PDBsum	1A6Z 1C42 1DE4
ProteinModelPortal	Q30201
SMR	Q30201
BioGrid	109325
DIP	DIP-2737N
IntAct	Q30201
MINT	MINT-7896047
PhosphoSite	Q30201
DMDM	2497915
MaxQB	Q30201
PaxDb	Q30201
PRIDE	Q30201
DNASU	3077
Ensembl	ENST00000317896 ENST00000336625 ENST00000349999 ENST00000352392 ENST00000353147 ENST00000357618 ENST00000397022 ENST00000461397 ENST00000488199
GeneID	3077
KEGG	hsa:3077
UCSC	uc003nfx.1 uc003nfy.1 uc003nfz.1 uc003nga.1 uc003ngb.1 uc003ngc.1 uc003ngd.1 uc003nge.1 uc003ngf.1
CTD	3077
GeneCards	GC06P026087
GeneReviews	HFE
H-InvDB	HIX0025100
HGNC	HGNC:4886
HPA	HPA017276
MIM	176200 235200 612635 613609 614193
neXtProt	NX_Q30201
Orphanet	139498 101330 79473
PharmGKB	PA29263
eggNOG	NOG41118
GeneTree	ENSGT00760000118960
HOGENOM	HOG000151270
HOVERGEN	HBG016709
InParanoid	Q30201
OMA	VILGCEM
OrthoDB	EOG7JT6WQ
PhylomeDB	Q30201
TreeFam	TF336617
EvolutionaryTrace	Q30201
GeneWiki	HFE_(gene)
GenomeRNAi	3077
NextBio	12169
PRO	PR:Q30201
Proteomes	UP000005640
Bgee	Q30201
ExpressionAtlas	Q30201
Genevestigator	Q30201
GO	GO:0045177 GO:0045178 GO:0031410 GO:0005769 GO:0005887 GO:0042612 GO:0048471 GO:0005886 GO:0055037 GO:0042605 GO:0005102 GO:0002474 GO:0006879 GO:0010106 GO:0007565 GO:0042446 GO:0006955 GO:0097459 GO:0060586 GO:0001916 GO:0006461
Gene3D	2.60.40.10 3.30.500.10
InterPro	IPR007110 IPR013783 IPR003006 IPR003597 IPR011161 IPR011162 IPR027648 IPR001039
Pfam	PF07654 PF00129
PRINTS	PR01638
SMART	SM00407
SUPFAM	SSF54452
PROSITE	PS50835 PS00290

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0039706	co-receptor binding	PMID:22728873^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q96B86	F		Seeded From UniProt	complete
involved_in	GO:0048260	positive regulation of receptor-mediated endocytosis	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	PMID:9465039^[3]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:9465039^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P02786	F		Seeded From UniProt	complete
involved_in	GO:1904283	negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	PMID:24643698^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P01892	P		Seeded From UniProt	complete
involved_in	GO:2000008	regulation of protein localization to cell surface	PMID:12704209^[5]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:Q9UP52) occurs_in:(UBERON:0002114)	Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	PMID:12704209^[5]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0013482)	Seeded From UniProt	complete
enables	GO:0030881	beta-2-microglobulin binding	PMID:9546397^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P61769	F		Seeded From UniProt	complete
enables	GO:0030881	beta-2-microglobulin binding	PMID:9465039^[3]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P61769	F		Seeded From UniProt	complete
involved_in	GO:1900121	negative regulation of receptor binding	PMID:9465039^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P02787)	Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	PMID:22728873^[1]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0010039	response to iron ion	PMID:21173098^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	PMID:21173098^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0002725	negative regulation of T cell cytokine production	PMID:24643698^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P01892	P	has_regulation_target:(UniProtKB:P13236)\|has_regulation_target:(UniProtKB:P13501)\|has_regulation_target:(UniProtKB:P20333-2)\|has_regulation_target:(UniProtKB:P10145)\|has_regulation_target:(UniProtKB:P10147)\|has_regulation_target:(UniProtKB:P35225)\|has_regulation_target:(UniProtKB:P05113)\|has_regulation_target:(UniProtKB:P48023:PRO_0000034501)\|has_regulation_target:(UniProtKB:P01579)	Seeded From UniProt	complete
involved_in	GO:2001186	negative regulation of CD8-positive, alpha-beta T cell activation	PMID:24643698^[4]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P01892	P		Seeded From UniProt	complete
involved_in	GO:2000272	negative regulation of signaling receptor activity	PMID:9465039^[3]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P02786)	Seeded From UniProt	complete
involved_in	GO:2000273	positive regulation of signaling receptor activity	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P	has_regulation_target:(UniProtKB:Q9UP52)	Seeded From UniProt	complete
NOT\|part_of	GO:0042612	MHC class I protein complex	PMID:8696333^[8]	ECO:0000320	phylogenetic determination of loss of key residues evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|enables	GO:0042605	peptide antigen binding	PMID:8696333^[8]	ECO:0000320	phylogenetic determination of loss of key residues evidence used in manual assertion		F		Seeded From UniProt	complete
NOT\|involved_in	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	PMID:8696333^[8]	ECO:0000320	phylogenetic determination of loss of key residues evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21173098^[7]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(UBERON:0001977)	Seeded From UniProt	complete
involved_in	GO:0090277	positive regulation of peptide hormone secretion	PMID:21173098^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P81172)	Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	PMID:12704209^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	PMID:9990067^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	occurs_in:(UBERON:0002114)	Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:9990067^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P02786	F	occurs_in:(UBERON:0002114)	Seeded From UniProt	complete
enables	GO:0030881	beta-2-microglobulin binding	PMID:9990067^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P61769	F	occurs_in:(UBERON:0002114)	Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:9990067^[9]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:1000338)	Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:22728873^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9UP52	F		Seeded From UniProt	complete
enables	GO:0039706	co-receptor binding	PMID:22728873^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q6ZVN8	F		Seeded From UniProt	complete
involved_in	GO:1904437	positive regulation of transferrin receptor binding	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02786 UniProtKB:P02787 UniProtKB:P61769 UniProtKB:Q9UP52	P		Seeded From UniProt	complete
involved_in	GO:0034756	regulation of iron ion transport	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02786 UniProtKB:P02787 UniProtKB:P61769 UniProtKB:Q9UP52	P	has_start_location:(GO:0005615) has_end_location:(GO:0005768) regulates_transport_of:(CHEBI:29034)	Seeded From UniProt	complete
involved_in	GO:1904434	positive regulation of ferrous iron binding	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02786 UniProtKB:P02787 UniProtKB:P61769 UniProtKB:Q9UP52	P		Seeded From UniProt	complete
involved_in	GO:1900122	positive regulation of receptor binding	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P	has_regulation_target:(UniProtKB:P02787)	Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:18353247^[2]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q9UP52	F		Seeded From UniProt	complete
involved_in	GO:0034756	regulation of iron ion transport	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	PMID:18353247^[2]	ECO:0000305	curator inference used in manual assertion	GO:0071281	P	part_of:(GO:0071281)	Seeded From UniProt	complete
involved_in	GO:0032092	positive regulation of protein binding	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P	has_regulation_target:(UniProtKB:Q9UP52)	Seeded From UniProt	complete
involved_in	GO:0071281	cellular response to iron ion	PMID:18353247^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:P02787,UniProtKB:P61769,UniProtKB:Q07891,UniProtKB:Q9UP52	P		Seeded From UniProt	complete
NOT\|involved_in	GO:0019882	antigen processing and presentation	PMID:9546397^[6]	ECO:0000305	curator inference used in manual assertion	GO:0042605	P		Seeded From UniProt	complete
involved_in	GO:0010628	positive regulation of gene expression	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P70387	P	has_regulation_target:(UniProtKB:P36894)	Seeded From UniProt	complete
involved_in	GO:0032435	negative regulation of proteasomal ubiquitin-dependent protein catabolic process	PMID:24904118^[10]	ECO:0000305	curator inference used in manual assertion	GO:2000059	P	has_regulation_target:(UniProtKB:P36894)	Seeded From UniProt	complete
part_of	GO:0009897	external side of plasma membrane	PMID:24904118^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	PMID:24904118^[10]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:Q15797)\|has_regulation_target:(UniProtKB:Q99717)\|has_regulation_target:(UniProtKB:O15198)	Seeded From UniProt	complete
involved_in	GO:2000059	negative regulation of ubiquitin-dependent protein catabolic process	PMID:24904118^[10]	ECO:0000314	direct assay evidence used in manual assertion		P	has_regulation_target:(UniProtKB:P36894)	Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	PMID:24904118^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:O00238	F		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	PMID:24904118^[10]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P36894	F		Seeded From UniProt	complete
involved_in	GO:0030509	BMP signaling pathway	PMID:24904118^[10]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	PMID:9546397^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:9546397^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P02786	F		Seeded From UniProt	complete
NOT\|part_of	GO:0042612	MHC class I protein complex	PMID:9546397^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|enables	GO:0042605	peptide antigen binding	PMID:9546397^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006879	cellular iron ion homeostasis	PMID:10085150^[11]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0055037	recycling endosome	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0045178	basal part of cell	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0045177	apical part of cell	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0031410	cytoplasmic vesicle	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005769	early endosome	PMID:15880641^[12]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005102	signaling receptor binding	PMID:10638746^[13]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P02786	F		Seeded From UniProt	complete
involved_in	GO:1990641	response to iron ion starvation	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000422361 RGD:2793	P		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:109191 PANTHER:PTN000422361 UniProtKB:Q30201	F		Seeded From UniProt	complete
part_of	GO:0009897	external side of plasma membrane	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:107674 MGI:MGI:109431 MGI:MGI:109432 MGI:MGI:1861032 MGI:MGI:1925027 MGI:MGI:2179988 MGI:MGI:2179989 MGI:MGI:95896 MGI:MGI:95904 MGI:MGI:95915 MGI:MGI:95938 PANTHER:PTN002314307 UniProtKB:Q30201	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95896 PANTHER:PTN002314307 UniProtKB:Q95460 UniProtKB:Q9BZM6	C		Seeded From UniProt	complete
part_of	GO:0005615	extracellular space	PMID:21873635^[14]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:95929 PANTHER:PTN002314307 UniProtKB:P25311 UniProtKB:Q29983 UniProtKB:Q30201 UniProtKB:Q9BZM5	C		Seeded From UniProt	complete
involved_in	GO:1990641	response to iron ion starvation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
part_of	GO:1990357	terminal web	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	C		Seeded From UniProt	complete
involved_in	GO:0097421	liver regeneration	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
part_of	GO:0045177	apical part of cell	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	C		Seeded From UniProt	complete
involved_in	GO:0010106	cellular response to iron ion starvation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
involved_in	GO:0007565	female pregnancy	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
involved_in	GO:0006953	acute-phase response	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:O35799 ensembl:ENSRNOP00000022881	P		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	C		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	F		Seeded From UniProt	complete
involved_in	GO:0060586	multicellular organismal iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	P		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	P		Seeded From UniProt	complete
involved_in	GO:0042446	hormone biosynthetic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	P		Seeded From UniProt	complete
involved_in	GO:0010628	positive regulation of gene expression	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P70387 ensembl:ENSMUSP00000089298	P		Seeded From UniProt	complete
involved_in	GO:0002626	negative regulation of T cell antigen processing and presentation	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031092	P		Seeded From UniProt	complete
involved_in	GO:0006879	cellular iron ion homeostasis	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031092	P		Seeded From UniProt	complete
involved_in	GO:0098711	iron ion import across plasma membrane	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031092	P		Seeded From UniProt	complete
enables	GO:1990459	transferrin receptor binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031092	F		Seeded From UniProt	complete
part_of	GO:1990712	HFE-transferrin receptor complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR031092	C		Seeded From UniProt	complete
involved_in	GO:0065003	protein-containing complex assembly	PMID:10638746^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005887	integral component of plasma membrane	PMID:10638746^[13]	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	PMID:10638746^[13] Reactome:R-HSA-5691154	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0033572	transferrin transport	Reactome:R-HSA-917977	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472	C		Seeded From UniProt	complete
involved_in	GO:0006811	ion transport	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0406	P		Seeded From UniProt	complete
part_of	GO:0016021	integral component of membrane	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0812	C		Seeded From UniProt	complete
part_of	GO:0005886	plasma membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-1003 UniProtKB-SubCell:SL-0039	C		Seeded From UniProt	complete
involved_in	GO:0055072	iron ion homeostasis	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0410	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 ^1.3 D'Alessio, F et al. (2012) The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. J. Hepatol. 57 1052-60 PubMed GONUTS page
↑ ^2.00 ^2.01 ^2.02 ^2.03 ^2.04 ^2.05 ^2.06 ^2.07 ^2.08 ^2.09 ^2.10 Waheed, A et al. (2008) HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron. Arch. Biochem. Biophys. 474 193-7 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 Feder, JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. U.S.A. 95 1472-7 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 Reuben, A et al. (2014) The WT hemochromatosis protein HFE inhibits CD8⁺ T-lymphocyte activation. Eur. J. Immunol. 44 1604-14 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 Griffiths, WJ & Cox, TM (2003) Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J. Histochem. Cytochem. 51 613-24 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Lebrón, JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93 111-23 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Girelli, D et al. (2011) A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica 96 500-6 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Feder, JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13 399-408 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 ^9.3 Waheed, A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc. Natl. Acad. Sci. U.S.A. 96 1579-84 PubMed GONUTS page
↑ ^10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 ^10.6 Wu, XG et al. (2014) HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood 124 1335-43 PubMed GONUTS page
↑ Roy, CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biol. Chem. 274 9022-8 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Gruper, Y et al. (2005) Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. J. Cell. Physiol. 204 901-12 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 Bennett, MJ et al. (2000) Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 403 46-53 PubMed GONUTS page
↑ ^14.0 ^14.1 ^14.2 ^14.3 ^14.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:22728873-1] 1.0 ^1.1 ^1.2 ^1.3 D'Alessio, F et al. (2012) The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. J. Hepatol. 57 1052-60 PubMed GONUTS page

[PMID:18353247-2] 2.00 ^2.01 ^2.02 ^2.03 ^2.04 ^2.05 ^2.06 ^2.07 ^2.08 ^2.09 ^2.10 Waheed, A et al. (2008) HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron. Arch. Biochem. Biophys. 474 193-7 PubMed GONUTS page

[PMID:9465039-3] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 Feder, JN et al. (1998) The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl. Acad. Sci. U.S.A. 95 1472-7 PubMed GONUTS page

[PMID:24643698-4] 4.0 ^4.1 ^4.2 Reuben, A et al. (2014) The WT hemochromatosis protein HFE inhibits CD8⁺ T-lymphocyte activation. Eur. J. Immunol. 44 1604-14 PubMed GONUTS page

[PMID:12704209-5] 5.0 ^5.1 ^5.2 Griffiths, WJ & Cox, TM (2003) Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. J. Histochem. Cytochem. 51 613-24 PubMed GONUTS page

[PMID:9546397-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 ^6.5 Lebrón, JA et al. (1998) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93 111-23 PubMed GONUTS page

[PMID:21173098-7] 7.0 ^7.1 ^7.2 ^7.3 Girelli, D et al. (2011) A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis. Haematologica 96 500-6 PubMed GONUTS page

[PMID:8696333-8] 8.0 ^8.1 ^8.2 Feder, JN et al. (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13 399-408 PubMed GONUTS page

[PMID:9990067-9] 9.0 ^9.1 ^9.2 ^9.3 Waheed, A et al. (1999) Association of HFE protein with transferrin receptor in crypt enterocytes of human duodenum. Proc. Natl. Acad. Sci. U.S.A. 96 1579-84 PubMed GONUTS page

[PMID:24904118-10] 10.0 ^10.1 ^10.2 ^10.3 ^10.4 ^10.5 ^10.6 Wu, XG et al. (2014) HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression. Blood 124 1335-43 PubMed GONUTS page

[PMID:10085150-11] Roy, CN et al. (1999) The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. J. Biol. Chem. 274 9022-8 PubMed GONUTS page

[PMID:15880641-12] 12.0 ^12.1 ^12.2 ^12.3 ^12.4 ^12.5 Gruper, Y et al. (2005) Transferrin receptor co-localizes and interacts with the hemochromatosis factor (HFE) and the divalent metal transporter-1 (DMT1) in trophoblast cells. J. Cell. Physiol. 204 901-12 PubMed GONUTS page

[PMID:10638746-13] 13.0 ^13.1 ^13.2 ^13.3 Bennett, MJ et al. (2000) Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 403 46-53 PubMed GONUTS page

[PMID:21873635-14] 14.0 ^14.1 ^14.2 ^14.3 ^14.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:HFE

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