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Protein

Hereditary hemochromatosis protein homolog

Gene

Hfe

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processIon transport, Iron transport, Transport
LigandIron

Enzyme and pathway databases

ReactomeiR-MMU-917977 Transferrin endocytosis and recycling

Names & Taxonomyi

Protein namesi
Recommended name:
Hereditary hemochromatosis protein homolog
Gene namesi
Name:Hfe
Synonyms:Mr2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 13

Organism-specific databases

MGIiMGI:109191 Hfe

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 318ExtracellularBy similarityAdd BLAST294
Transmembranei319 – 339HelicalSequence analysisAdd BLAST21
Topological domaini340 – 359CytoplasmicBy similarityAdd BLAST20

Keywords - Cellular componenti

Cell membrane, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 24Sequence analysisAdd BLAST24
ChainiPRO_000001889425 – 359Hereditary hemochromatosis protein homologAdd BLAST335

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi136 ↔ 199PROSITE-ProRule annotation
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi237 ↔ 294PROSITE-ProRule annotation
Glycosylationi246N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP70387
PaxDbiP70387
PeptideAtlasiP70387
PRIDEiP70387

PTM databases

iPTMnetiP70387
PhosphoSitePlusiP70387

Expressioni

Gene expression databases

BgeeiENSMUSG00000006611
CleanExiMM_HFE
ExpressionAtlasiP70387 baseline and differential
GenevisibleiP70387 MM

Interactioni

Subunit structurei

Binds TFR through the extracellular domain in a pH-dependent manner.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi200285, 1 interactor
STRINGi10090.ENSMUSP00000089298

Structurei

3D structure databases

ProteinModelPortaliP70387
SMRiP70387
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini219 – 308Ig-like C1-typeAdd BLAST90

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni25 – 126Alpha-1Add BLAST102
Regioni127 – 217Alpha-2Add BLAST91
Regioni218 – 309Alpha-3Add BLAST92
Regioni310 – 318Connecting peptide9

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IFNV Eukaryota
ENOG4111CQR LUCA
GeneTreeiENSGT00740000114936
HOGENOMiHOG000296917
HOVERGENiHBG016709
InParanoidiP70387
OMAiITMKWLK
OrthoDBiEOG091G0K1X
TreeFamiTF336617

Family and domain databases

Gene3Di2.60.40.10, 1 hit
3.30.500.10, 1 hit
InterProiView protein in InterPro
IPR031092 HFE
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR003006 Ig/MHC_CS
IPR003597 Ig_C1-set
IPR011161 MHC_I-like_Ag-recog
IPR037055 MHC_I-like_Ag-recog_sf
IPR011162 MHC_I/II-like_Ag-recog
IPR001039 MHC_I_a_a1/a2
PANTHERiPTHR16675:SF172 PTHR16675:SF172, 1 hit
PfamiView protein in Pfam
PF07654 C1-set, 1 hit
PF00129 MHC_I, 1 hit
PRINTSiPR01638 MHCCLASSI
SMARTiView protein in SMART
SM00407 IGc1, 1 hit
SUPFAMiSSF48726 SSF48726, 1 hit
SSF54452 SSF54452, 1 hit
PROSITEiView protein in PROSITE
PS50835 IG_LIKE, 1 hit
PS00290 IG_MHC, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P70387-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSLSAGLPVR PLLLLLLLLW SVAPQALPPR SHSLRYLFMG ASEPDLGLPL
60 70 80 90 100
FEARGYVDDQ LFVSYNHESR RAEPRAPWIL EQTSSQLWLH LSQSLKGWDY
110 120 130 140 150
MFIVDFWTIM GNYNHSKVTK LGVVSESHIL QVVLGCEVHE DNSTSGFWRY
160 170 180 190 200
GYDGQDHLEF CPKTLNWSAA EPGAWATKVE WDEHKIRAKQ NRDYLEKDCP
210 220 230 240 250
EQLKRLLELG RGVLGQQVPT LVKVTRHWAS TGTSLRCQAL DFFPQNITMR
260 270 280 290 300
WLKDNQPLDA KDVNPEKVLP NGDETYQGWL TLAVAPGDET RFTCQVEHPG
310 320 330 340 350
LDQPLTASWE PLQSQAMIIG IISGVTVCAI FLVGILFLIL RKRKASGGTM

GGYVLTDCE
Length:359
Mass (Da):40,534
Last modified:July 27, 2011 - v2
Checksum:i586657B7F9FF20B4
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti327V → I in AAC03447 (PubMed:9396865).Curated1
Sequence conflicti327V → I in AAB07525 (Ref. 2) Curated1
Sequence conflicti327V → I in AAI16745 (PubMed:15489334).Curated1
Sequence conflicti327V → I in AAI16747 (PubMed:15489334).Curated1
Sequence conflicti327V → I in CAA73197 (Ref. 8) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS26360.1
PIRiJC5382
RefSeqiNP_001334422.1, NM_001347493.1
NP_034554.2, NM_010424.5
UniGeneiMm.2681

Genome annotation databases

EnsembliENSMUST00000091706; ENSMUSP00000089298; ENSMUSG00000006611
GeneIDi15216
KEGGimmu:15216
UCSCiuc007pup.1 mouse

Similar proteinsi

Entry informationi

Entry nameiHFE_MOUSE
AccessioniPrimary (citable) accession number: P70387
Secondary accession number(s): Q14AQ5, Q5SZ90, Q9D754
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 27, 2011
Last modified: May 23, 2018
This is version 141 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families
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