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Protein

Hereditary hemochromatosis protein homolog

Gene

Hfe

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. antigen binding Source: GO_Central
  2. peptide antigen binding Source: InterPro
  3. receptor binding Source: MGI

GO - Biological processi

  1. antigen processing and presentation Source: GO_Central
  2. antigen processing and presentation of peptide antigen via MHC class I Source: UniProtKB-KW
  3. cellular response to iron ion starvation Source: Ensembl
  4. female pregnancy Source: Ensembl
  5. hormone biosynthetic process Source: MGI
  6. immune response Source: InterPro
  7. iron ion homeostasis Source: MGI
  8. iron ion import into cell Source: MGI
  9. multicellular organismal iron ion homeostasis Source: MGI
  10. positive regulation of T cell mediated cytotoxicity Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Immunity

Names & Taxonomyi

Protein namesi
Recommended name:
Hereditary hemochromatosis protein homolog
Gene namesi
Name:Hfe
Synonyms:Mr2
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 13

Organism-specific databases

MGIiMGI:109191. Hfe.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 318294ExtracellularSequence AnalysisAdd
BLAST
Transmembranei319 – 33921HelicalSequence AnalysisAdd
BLAST
Topological domaini340 – 35920CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical part of cell Source: MGI
  2. basal part of cell Source: MGI
  3. cytoplasmic vesicle Source: MGI
  4. early endosome Source: MGI
  5. integral component of membrane Source: UniProtKB-KW
  6. MHC class I protein complex Source: UniProtKB-KW
  7. perinuclear region of cytoplasm Source: MGI
  8. plasma membrane Source: GO_Central
  9. recycling endosome Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane, MHC I

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2424Sequence AnalysisAdd
BLAST
Chaini25 – 359335Hereditary hemochromatosis protein homologPRO_0000018894Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi114 – 1141N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi136 ↔ 199PROSITE-ProRule annotation
Glycosylationi142 – 1421N-linked (GlcNAc...)Sequence Analysis
Glycosylationi166 – 1661N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi237 ↔ 294PROSITE-ProRule annotation
Glycosylationi246 – 2461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP70387.
PRIDEiP70387.

PTM databases

PhosphoSiteiP70387.

Expressioni

Gene expression databases

BgeeiP70387.
CleanExiMM_HFE.
ExpressionAtlasiP70387. baseline and differential.
GenevestigatoriP70387.

Interactioni

Subunit structurei

Binds TFR through the extracellular domain.

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000089298.

Structurei

3D structure databases

ProteinModelPortaliP70387.
SMRiP70387. Positions 30-309.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini219 – 30890Ig-like C1-typeAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni25 – 126102Alpha-1Add
BLAST
Regioni127 – 21791Alpha-2Add
BLAST
Regioni218 – 30992Alpha-3Add
BLAST
Regioni310 – 3189Connecting peptide

Sequence similaritiesi

Belongs to the MHC class I family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41118.
GeneTreeiENSGT00760000118960.
HOGENOMiHOG000296917.
HOVERGENiHBG016709.
InParanoidiP70387.
OMAiNHSKVTK.
TreeFamiTF336617.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiIPR007110. 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]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti327 – 3271V → I in AAC03447 (PubMed:9396865).Curated
Sequence conflicti327 – 3271V → I in AAB07525 (Ref. 2) Curated
Sequence conflicti327 – 3271V → I in AAI16745 (PubMed:15489334).Curated
Sequence conflicti327 – 3271V → I in AAI16747 (PubMed:15489334).Curated
Sequence conflicti327 – 3271V → I in CAA73197 (Ref. 8) Curated

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_034554.2. NM_010424.4.
UniGeneiMm.2681.

Genome annotation databases

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

Cross-referencesi

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_034554.2. NM_010424.4.
UniGeneiMm.2681.

3D structure databases

ProteinModelPortaliP70387.
SMRiP70387. Positions 30-309.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000089298.

PTM databases

PhosphoSiteiP70387.

Proteomic databases

PaxDbiP70387.
PRIDEiP70387.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi3077.
MGIiMGI:109191. Hfe.

Phylogenomic databases

eggNOGiNOG41118.
GeneTreeiENSGT00760000118960.
HOGENOMiHOG000296917.
HOVERGENiHBG016709.
InParanoidiP70387.
OMAiNHSKVTK.
TreeFamiTF336617.

Miscellaneous databases

NextBioi287795.
PROiP70387.
SOURCEiSearch...

Gene expression databases

BgeeiP70387.
CleanExiMM_HFE.
ExpressionAtlasiP70387. baseline and differential.
GenevestigatoriP70387.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProiIPR007110. 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]
PfamiPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
[Graphical view]
PRINTSiPR01638. MHCCLASSI.
SMARTiSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMiSSF54452. SSF54452. 1 hit.
PROSITEiPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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.

Entry informationi

Entry nameiHFE_MOUSE
AccessioniPrimary (citable) accession number: P70387
Secondary accession number(s): Q14AQ5, Q5SZ90, Q9D754
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: July 27, 2011
Last modified: February 4, 2015
This is version 116 of the entry and version 2 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.