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P70387 (HFE_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hereditary hemochromatosis protein homolog
Gene names
Name:Hfe
Synonyms:Mr2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length359 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin By similarity.

Subunit structure

Binds TFR through the extracellular domain.

Subcellular location

Membrane; Single-pass type I membrane protein.

Sequence similarities

Belongs to the MHC class I family.

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Ontologies

Keywords
   Biological processImmunity
   Cellular componentMembrane
MHC I
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processantigen processing and presentation

Inferred from Biological aspect of Ancestor. Source: RefGenome

antigen processing and presentation of peptide antigen via MHC class I

Inferred from electronic annotation. Source: UniProtKB-KW

cellular response to iron ion starvation

Inferred from electronic annotation. Source: Ensembl

female pregnancy

Inferred from electronic annotation. Source: Ensembl

hormone biosynthetic process

Inferred from mutant phenotype PubMed 15914561. Source: MGI

immune response

Inferred from electronic annotation. Source: InterPro

iron ion homeostasis

Inferred from mutant phenotype PubMed 15914561. Source: MGI

iron ion import into cell

Inferred from mutant phenotype PubMed 10077651. Source: MGI

multicellular organismal iron ion homeostasis

Inferred from mutant phenotype PubMed 10077651. Source: MGI

positive regulation of T cell mediated cytotoxicity

Inferred from electronic annotation. Source: InterPro

   Cellular_componentMHC class I protein complex

Inferred from electronic annotation. Source: UniProtKB-KW

apical part of cell

Inferred from electronic annotation. Source: Ensembl

basal part of cell

Inferred from electronic annotation. Source: Ensembl

cytoplasmic vesicle

Inferred from electronic annotation. Source: Ensembl

early endosome

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from Biological aspect of Ancestor. Source: RefGenome

recycling endosome

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionantigen binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

peptide antigen binding

Inferred from electronic annotation. Source: InterPro

receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Chain25 – 359335Hereditary hemochromatosis protein homolog
PRO_0000018894

Regions

Topological domain25 – 318294Extracellular Potential
Transmembrane319 – 33921Helical; Potential
Topological domain340 – 35920Cytoplasmic Potential
Domain219 – 30890Ig-like C1-type
Region25 – 126102Alpha-1
Region127 – 21791Alpha-2
Region218 – 30992Alpha-3
Region310 – 3189Connecting peptide

Amino acid modifications

Glycosylation1141N-linked (GlcNAc...) Potential
Glycosylation1421N-linked (GlcNAc...) Potential
Glycosylation1661N-linked (GlcNAc...) Potential
Glycosylation2461N-linked (GlcNAc...) Potential
Disulfide bond136 ↔ 199 By similarity
Disulfide bond237 ↔ 294 By similarity

Experimental info

Sequence conflict3271V → I in AAC03447. Ref.1
Sequence conflict3271V → I in AAB07525. Ref.2
Sequence conflict3271V → I in AAI16745. Ref.6
Sequence conflict3271V → I in AAI16747. Ref.6
Sequence conflict3271V → I in CAA73197. Ref.8

Sequences

Sequence LengthMass (Da)Tools
P70387 [UniParc].

Last modified July 27, 2011. Version 2.
Checksum: 586657B7F9FF20B4

FASTA35940,534
        10         20         30         40         50         60 
MSLSAGLPVR PLLLLLLLLW SVAPQALPPR SHSLRYLFMG ASEPDLGLPL FEARGYVDDQ 

        70         80         90        100        110        120 
LFVSYNHESR RAEPRAPWIL EQTSSQLWLH LSQSLKGWDY MFIVDFWTIM GNYNHSKVTK 

       130        140        150        160        170        180 
LGVVSESHIL QVVLGCEVHE DNSTSGFWRY GYDGQDHLEF CPKTLNWSAA EPGAWATKVE 

       190        200        210        220        230        240 
WDEHKIRAKQ NRDYLEKDCP EQLKRLLELG RGVLGQQVPT LVKVTRHWAS TGTSLRCQAL 

       250        260        270        280        290        300 
DFFPQNITMR WLKDNQPLDA KDVNPEKVLP NGDETYQGWL TLAVAPGDET RFTCQVEHPG 

       310        320        330        340        350 
LDQPLTASWE PLQSQAMIIG IISGVTVCAI FLVGILFLIL RKRKASGGTM GGYVLTDCE 

« Hide

References

« Hide 'large scale' references
[1]"The mouse HFE gene."
Riegert P., Gilfillan S., Nanda I., Schmid M., Bahram S.
Immunogenetics 47:174-177(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Strain: 129/SvJ.
[2]Hashimoto K.
Submitted (SEP-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Strain: BALB/c.
Tissue: Lung.
[3]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Strain: C57BL/6J.
Tissue: Bone marrow and Tongue.
[4]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[5]Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[7]"Identification of a mouse homolog for the human hereditary haemochromatosis candidate gene."
Hashimoto K., Hirai M., Kurosawa Y.
Biochem. Biophys. Res. Commun. 230:35-39(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 37-211.
Strain: BALB/c.
Tissue: Liver.
[8]Albig W., Drabent B., Doenecke D.
Submitted (MAY-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 79-359.
Strain: 129.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF007558 Genomic DNA. Translation: AAC03447.1.
U66849 mRNA. Translation: AAB07525.1.
AK009581 mRNA. Translation: BAB26373.1.
AK150697 mRNA. Translation: BAE29776.1.
AL590388 Genomic DNA. Translation: CAI25849.2.
CH466561 Genomic DNA. Translation: EDL32544.1.
BC116744 mRNA. Translation: AAI16745.1.
BC116746 mRNA. Translation: AAI16747.1.
Y12650 Genomic DNA. Translation: CAA73197.1.
U80604 Genomic DNA. Translation: AAB51504.1.
CCDSCCDS26360.1.
PIRJC5382.
RefSeqNP_034554.2. NM_010424.4.
UniGeneMm.2681.

3D structure databases

ProteinModelPortalP70387.
SMRP70387. Positions 30-309.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000089298.

PTM databases

PhosphoSiteP70387.

Proteomic databases

PaxDbP70387.
PRIDEP70387.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000091706; ENSMUSP00000089298; ENSMUSG00000006611.
GeneID15216.
KEGGmmu:15216.
UCSCuc007pup.1. mouse.

Organism-specific databases

CTD3077.
MGIMGI:109191. Hfe.

Phylogenomic databases

eggNOGNOG41118.
GeneTreeENSGT00750000117285.
HOGENOMHOG000296917.
HOVERGENHBG016709.
InParanoidQ9D754.
OMANHSKVTK.
TreeFamTF336617.

Gene expression databases

ArrayExpressP70387.
BgeeP70387.
CleanExMM_HFE.
GenevestigatorP70387.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003006. Ig/MHC_CS.
IPR003597. Ig_C1-set.
IPR011161. MHC_I-like_Ag-recog.
IPR011162. MHC_I/II-like_Ag-recog.
IPR027648. MHC_I_a.
IPR001039. MHC_I_a_a1/a2.
[Graphical view]
PfamPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
[Graphical view]
PRINTSPR01638. MHCCLASSI.
SMARTSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio287795.
PROP70387.
SOURCESearch...

Entry information

Entry nameHFE_MOUSE
AccessionPrimary (citable) accession number: P70387
Secondary accession number(s): Q14AQ5, Q5SZ90, Q9D754
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 27, 2011
Last modified: July 9, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot