HUMAN:HFE

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	HFE ( synonyms: HLAH )
Protein Name(s)	Hereditary hemochromatosis protein HLA-H
External Links
UniProt Identifier	HFE_HUMAN
UniProt Accessions	Q30201, B2CKL0, O75929, O75930, O75931, Q17RT0, Q96KU5, Q96KU7, Q96KU8, Q9HC64, Q9HC68, Q9HC70, Q9HC83,
EMBL	U60319, U91328, Z92910, Y09801, Y09800, Y09803, Y09799, AF079407, AF079408, AF079409, AJ249335, AJ249336, AJ249337, AJ250635, AF115264, AF115265, AF144240, AF144242, AF149804, EU523119, CH471087, BC117201, BC117203,
RefSeq	NP_000401.1, NP_620572.1, NP_620573.1, NP_620575.1, NP_620576.1, NP_620577.1, NP_620578.1, NP_620579.1,
PDB	1A6Z, 1C42, 1DE4,
IntAct	Q30201,
Ensembl	ENST00000357618,
Pfam	PF07654, PF00129,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect
	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0490	P
	GO:0005515	protein binding	PMID:15880641^[1]	IPI: Inferred from Physical Interaction	UniProtKB:P02787	F
	GO:0005737	cytoplasm	PMID:10085150^[2]	TAS: Traceable Author Statement		C
	GO:0005769	early endosome	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0005886	plasma membrane	PMID:10638746^[3]	TAS: Traceable Author Statement		C
	GO:0005887	integral to plasma membrane	PMID:10638746^[3]	TAS: Traceable Author Statement		C
	GO:0006461	protein complex assembly	PMID:10638746^[3]	TAS: Traceable Author Statement		P
	GO:0006810	transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0813	P
	GO:0006811	ion transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0406	P
	GO:0006826	iron ion transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0410	P
	GO:0006826	iron ion transport	PMID:10085150^[2]	TAS: Traceable Author Statement		P
	GO:0006879	cellular iron ion homeostasis	PMID:10638746^[3]	TAS: Traceable Author Statement		P
	GO:0006898	receptor-mediated endocytosis	PMID:10085150^[2]	TAS: Traceable Author Statement		P
	GO:0006955	immune response	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	P
	GO:0006955	immune response	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	P
	GO:0007565	female pregnancy	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	P
	GO:0010106	cellular response to iron ion starvation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	P
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	C
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016020	membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0162	C
	GO:0016021	integral to membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0812	C
	GO:0019882	antigen processing and presentation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	P
	GO:0019882	antigen processing and presentation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	P
	GO:0031410	cytoplasmic vesicle	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0042446	hormone biosynthetic process	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000089298	P
	GO:0042612	MHC class I protein complex	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	C
	GO:0042612	MHC class I protein complex	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0490	C
	GO:0045177	apical part of cell	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	C
	GO:0045177	apical part of cell	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0045178	basal part of cell	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0048471	perinuclear region of cytoplasm	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0055037	recycling endosome	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0055072	iron ion homeostasis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000089298	P
	GO:0060586	multicellular organismal iron ion homeostasis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000089298	P
	GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0490	P
	GO:0005515	protein binding	PMID:15880641^[1]	IPI: Inferred from Physical Interaction	UniProtKB:P02787	F
	GO:0005737	cytoplasm	PMID:10085150^[2]	TAS: Traceable Author Statement		C
	GO:0005769	early endosome	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0005886	plasma membrane	PMID:10638746^[3]	TAS: Traceable Author Statement		C
	GO:0005887	integral to plasma membrane	PMID:10638746^[3]	TAS: Traceable Author Statement		C
	GO:0006461	protein complex assembly	PMID:10638746^[3]	TAS: Traceable Author Statement		P
	GO:0006810	transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0813	P
	GO:0006811	ion transport	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0406	P
	GO:0006826	iron ion transport	PMID:10085150^[2]	TAS: Traceable Author Statement		P
	GO:0006879	cellular iron ion homeostasis	PMID:10638746^[3]	TAS: Traceable Author Statement		P
	GO:0006898	receptor-mediated endocytosis	PMID:10085150^[2]	TAS: Traceable Author Statement		P
	GO:0006955	immune response	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	P
	GO:0006955	immune response	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	P
	GO:0007565	female pregnancy	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	P
	GO:0010106	cellular response to iron ion starvation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	P
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	C
	GO:0016020	membrane	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	C
	GO:0016020	membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0472	C
	GO:0016020	membrane	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0162	C
	GO:0016021	integral to membrane	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0812	C
	GO:0019882	antigen processing and presentation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	P
	GO:0019882	antigen processing and presentation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011161	P
	GO:0031410	cytoplasmic vesicle	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0042612	MHC class I protein complex	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001039	C
	GO:0042612	MHC class I protein complex	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0490	C
	GO:0045177	apical part of cell	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSRNOP00000022881	C
	GO:0045177	apical part of cell	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0045178	basal part of cell	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0048471	perinuclear region of cytoplasm	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0055037	recycling endosome	PMID:15880641^[1]	IDA: Inferred from Direct Assay		C
	GO:0055072	iron ion homeostasis	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0410	P
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Notes

References

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

↑ ^1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 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
↑ ^2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 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
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 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:15880641-0] 1.00 ^1.01 ^1.02 ^1.03 ^1.04 ^1.05 ^1.06 ^1.07 ^1.08 ^1.09 ^1.10 ^1.11 ^1.12 ^1.13 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:10085150-1] 2.0 ^2.1 ^2.2 ^2.3 ^2.4 ^2.5 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:10638746-2] 3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 ^3.6 ^3.7 Bennett MJ et al. (2000) Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 403: 46-53 PubMed GONUTS page

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HUMAN:HFE

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