HFE_RHIUN
ID HFE_RHIUN Reviewed; 348 AA.
AC Q9GL41;
DT 25-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 25-MAY-2022, entry version 77.
DE RecName: Full=Hereditary hemochromatosis protein homolog;
DE Flags: Precursor;
GN Name=HFE;
OS Rhinoceros unicornis (Greater Indian rhinoceros).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Perissodactyla; Rhinocerotidae; Rhinoceros.
OX NCBI_TaxID=9809;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
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 affinity
CC for iron-loaded transferrin. {ECO:0000250|UniProtKB:Q30201}.
CC -!- SUBUNIT: Binds TFR through the extracellular domain in a pH-dependent
CC manner. {ECO:0000250|UniProtKB:Q30201}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q30201};
CC Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q30201}.
CC -!- SIMILARITY: Belongs to the MHC class I family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AY007544; AAG23704.1; -; mRNA.
DR AlphaFoldDB; Q9GL41; -.
DR SMR; Q9GL41; -.
DR GO; GO:1990712; C:HFE-transferrin receptor complex; IEA:InterPro.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:1990459; F:transferrin receptor binding; IEA:InterPro.
DR GO; GO:0098711; P:iron ion import across plasma membrane; IEA:InterPro.
DR GO; GO:0002626; P:negative regulation of T cell antigen processing and presentation; IEA:InterPro.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 3.30.500.10; -; 1.
DR InterPro; IPR031092; HFE.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
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; IPR037055; MHC_I-like_Ag-recog_sf.
DR InterPro; IPR011162; MHC_I/II-like_Ag-recog.
DR InterPro; IPR001039; MHC_I_a_a1/a2.
DR PANTHER; PTHR16675:SF172; PTHR16675:SF172; 1.
DR Pfam; PF07654; C1-set; 1.
DR Pfam; PF00129; MHC_I; 1.
DR PRINTS; PR01638; MHCCLASSI.
DR SMART; SM00407; IGc1; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR SUPFAM; SSF54452; SSF54452; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS00290; IG_MHC; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Disulfide bond; Glycoprotein; Ion transport; Iron;
KW Iron transport; Membrane; Signal; Transmembrane; Transmembrane helix;
KW Transport.
FT SIGNAL 1..22
FT /evidence="ECO:0000250"
FT CHAIN 23..348
FT /note="Hereditary hemochromatosis protein homolog"
FT /id="PRO_0000018896"
FT TOPO_DOM 23..306
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:Q30201"
FT TRANSMEM 307..330
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 331..348
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:Q30201"
FT DOMAIN 207..296
FT /note="Ig-like C1-type"
FT REGION 23..114
FT /note="Alpha-1"
FT REGION 115..205
FT /note="Alpha-2"
FT REGION 206..297
FT /note="Alpha-3"
FT REGION 298..306
FT /note="Connecting peptide"
FT CARBOHYD 110
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 130
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 234
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 124..187
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT DISULFID 225..282
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
SQ SEQUENCE 348 AA; 39743 MW; F2723D57A327A6B4 CRC64;
MGPRARPALF FLILLRTVAA QGRPPRSHSL RYLFMGASER DHGLPLFEAL GYVDDELFVA
YNHESRRAES RAQWVLGEAH SQLWLQLSQS LKGWDHMFIV DFWTIMDNHN HSKESHTLQV
ILGCEVQEDN STRGFWMYGY DGQDHLEFCP ETLDWRAAES RALTTKLEWE VNKIRAKQNR
AYLERDCPEQ LQWLLELGRG VLDQQVPPLV KVTHHVASAV TTLRCQALNF YPQNITMRWL
KDRKPVDVKD AESKDVLPSG DGTYQSWVAL AVPPGEEQRY TCQVEHPGLD QPLTATWEPS
LSNTLVTGVI SGIAVCVIIF LIGILFRILR KRQASRGAMG DYVLAECE