ID HFE_DICBI Reviewed; 348 AA.
AC Q9GL43; Q9GK81;
DT 25-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 06-MAR-2013, entry version 54.
DE RecName: Full=Hereditary hemochromatosis protein homolog;
DE Flags: Precursor;
GN Name=HFE;
OS Diceros bicornis (Black rhinoceros).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Rhinocerotidae;
OC Diceros.
OX NCBI_TaxID=9805;
RN [1]
RP NUCLEOTIDE SEQUENCE.
RA West C.J., Worley M., Beutler E.;
RT "Rhinoceros HFE polymorphisms.";
RL Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Binds to transferrin receptor (TFR) and reduces its
CC affinity for iron-loaded transferrin.
CC -!- SUBUNIT: Binds TFR through the extracellular domain.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane
CC protein.
CC -!- SIMILARITY: Belongs to the MHC class I family.
CC -!- SIMILARITY: Contains 1 Ig-like C1-type (immunoglobulin-like)
CC domain.
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DR EMBL; AY007542; AAG23702.1; -; mRNA.
DR EMBL; AF301592; AAG39940.1; -; Genomic_DNA.
DR ProteinModelPortal; Q9GL43; -.
DR SMR; Q9GL43; 26-297.
DR HOVERGEN; HBG016709; -.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0042612; C:MHC class I protein complex; IEA:UniProtKB-KW.
DR GO; GO:0002474; P:antigen processing and presentation of peptide antigen via MHC class I; IEA:UniProtKB-KW.
DR GO; GO:0006955; P:immune response; IEA:InterPro.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 3.30.500.10; -; 1.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR003006; Ig/MHC_CS.
DR InterPro; IPR003597; Ig_C1-set.
DR InterPro; IPR011161; MHC_I-like_Ag-recog.
DR InterPro; IPR011162; MHC_I/II-like_Ag-recog.
DR InterPro; IPR001039; MHC_I_a_a1/a2.
DR Pfam; PF07654; C1-set; 1.
DR Pfam; PF00129; MHC_I; 1.
DR PRINTS; PR01638; MHCCLASSI.
DR SMART; SM00407; IGc1; 1.
DR SUPFAM; SSF54452; MHC_I/II-like_Ag-recog; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS00290; IG_MHC; 1.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Immunity; Membrane; MHC I; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1 22 By similarity.
FT CHAIN 23 348 Hereditary hemochromatosis protein
FT homolog.
FT /FTId=PRO_0000018890.
FT TOPO_DOM 23 306 Extracellular (Potential).
FT TRANSMEM 307 330 Helical; (Potential).
FT TOPO_DOM 331 348 Cytoplasmic (Potential).
FT DOMAIN 207 296 Ig-like C1-type.
FT REGION 23 114 Alpha-1.
FT REGION 115 205 Alpha-2.
FT REGION 206 297 Alpha-3.
FT REGION 298 306 Connecting peptide.
FT CARBOHYD 110 110 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 130 130 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 234 234 N-linked (GlcNAc...) (Potential).
FT DISULFID 124 187 By similarity.
FT DISULFID 225 282 By similarity.
SQ SEQUENCE 348 AA; 39818 MW; 4D95E7B01E48FB90 CRC64;
MGPRARPALF FLILLRTVAA QGRPPRSHSL RYLFMGASER DHGLPLFEAL GYVDDELFVA
YNHESRRAES RAQWVLGEAH SQLWLQLTQS LKGWDHMFIV DFWTIMDNHN HSKESHTLQV
ILGCEVQEDN STRGFWKYGY DGQDHLEFCP ETLDWRAAES RALTTKLEWE VNKIRAKQNR
AYLERDCPEQ LQWLLELGRG VLDQQVPPLV KVTHHVASAV TTLRCQALNF YPQNITMRWL
KDRKPVDVKD AESKDVLPSG DGTYQSWEAL AVPPGEEQRY TCQVEHPGLD QPLTATWEPS
LSNTLVTGVI SGIAVCVIIF FIGILFRILR KRQASRGAMG DYVLAECE
//
