HRG1_HUMAN
ID HRG1_HUMAN Reviewed; 146 AA.
AC Q6P1K1; Q9BUB3; Q9NX17;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Heme transporter HRG1;
DE AltName: Full=Heme-responsive gene 1 protein homolog;
DE Short=HRG-1;
DE Short=hHRG-1;
DE AltName: Full=Solute carrier family 48 member 1;
GN Name=SLC48A1; Synonyms=HRG1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Signet-ring cell carcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, HEME-BINDING, AND TISSUE SPECIFICITY.
RX PubMed=18418376; DOI=10.1038/nature06934;
RA Rajagopal A., Rao A.U., Amigo J., Tian M., Upadhyay S.K., Hall C., Uhm S.,
RA Mathew M.K., Fleming M.D., Paw B.H., Krause M., Hamza I.;
RT "Haem homeostasis is regulated by the conserved and concerted functions of
RT HRG-1 proteins.";
RL Nature 453:1127-1131(2008).
CC -!- FUNCTION: Heme transporter that regulates intracellular heme
CC availability through the endosomal or lysosomal compartment.
CC {ECO:0000269|PubMed:18418376}.
CC -!- INTERACTION:
CC Q6P1K1; P21964: COMT; NbExp=3; IntAct=EBI-1222191, EBI-372265;
CC Q6P1K1; Q15125: EBP; NbExp=3; IntAct=EBI-1222191, EBI-3915253;
CC Q6P1K1; P11279: LAMP1; NbExp=3; IntAct=EBI-1222191, EBI-2805407;
CC Q6P1K1; Q96B96: LDAF1; NbExp=3; IntAct=EBI-1222191, EBI-7055862;
CC Q6P1K1; P50222: MEOX2; NbExp=3; IntAct=EBI-1222191, EBI-748397;
CC Q6P1K1; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-1222191, EBI-8638294;
CC Q6P1K1; Q86WB7-2: UNC93A; NbExp=3; IntAct=EBI-1222191, EBI-13356252;
CC -!- SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:18418376};
CC Multi-pass membrane protein {ECO:0000269|PubMed:18418376}. Lysosome
CC membrane {ECO:0000269|PubMed:18418376}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:18418376}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6P1K1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6P1K1-2; Sequence=VSP_035184;
CC -!- TISSUE SPECIFICITY: Highly expressed in the brain, kidney, heart and
CC skeletal muscle. Moderately expressed in the liver, lung, placenta and
CC small intestine. {ECO:0000269|PubMed:18418376}.
CC -!- SIMILARITY: Belongs to the HRG family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH26344.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=BAA91205.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=EAW57951.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK000496; BAA91205.1; ALT_SEQ; mRNA.
DR EMBL; CH471111; EAW57951.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC002759; AAH02759.2; -; mRNA.
DR EMBL; BC026344; AAH26344.2; ALT_SEQ; mRNA.
DR EMBL; BC065033; AAH65033.1; -; mRNA.
DR CCDS; CCDS8755.2; -. [Q6P1K1-1]
DR RefSeq; NP_060312.2; NM_017842.2. [Q6P1K1-1]
DR RefSeq; XP_016875101.1; XM_017019612.1.
DR RefSeq; XP_016875102.1; XM_017019613.1.
DR RefSeq; XP_016875103.1; XM_017019614.1.
DR RefSeq; XP_016875104.1; XM_017019615.1.
DR RefSeq; XP_016875105.1; XM_017019616.1.
DR RefSeq; XP_016875106.1; XM_017019617.1. [Q6P1K1-1]
DR AlphaFoldDB; Q6P1K1; -.
DR BioGRID; 120784; 184.
DR IntAct; Q6P1K1; 12.
DR MINT; Q6P1K1; -.
DR STRING; 9606.ENSP00000415998; -.
DR TCDB; 2.A.110.1.1; the heme transporter, heme-responsive gene protein (hrg) family.
DR iPTMnet; Q6P1K1; -.
DR PhosphoSitePlus; Q6P1K1; -.
DR BioMuta; SLC48A1; -.
DR jPOST; Q6P1K1; -.
DR MassIVE; Q6P1K1; -.
DR PaxDb; Q6P1K1; -.
DR PeptideAtlas; Q6P1K1; -.
DR PRIDE; Q6P1K1; -.
DR ProteomicsDB; 66835; -. [Q6P1K1-1]
DR ProteomicsDB; 66836; -. [Q6P1K1-2]
DR TopDownProteomics; Q6P1K1-1; -. [Q6P1K1-1]
DR Antibodypedia; 25407; 17 antibodies from 9 providers.
DR DNASU; 55652; -.
DR Ensembl; ENST00000442218.3; ENSP00000415998.2; ENSG00000211584.14. [Q6P1K1-1]
DR Ensembl; ENST00000442892.2; ENSP00000410134.2; ENSG00000211584.14. [Q6P1K1-2]
DR Ensembl; ENST00000547002.5; ENSP00000446739.1; ENSG00000211584.14. [Q6P1K1-2]
DR GeneID; 55652; -.
DR KEGG; hsa:55652; -.
DR MANE-Select; ENST00000442218.3; ENSP00000415998.2; NM_017842.3; NP_060312.2.
DR UCSC; uc001rqc.4; human. [Q6P1K1-1]
DR CTD; 55652; -.
DR DisGeNET; 55652; -.
DR GeneCards; SLC48A1; -.
DR HGNC; HGNC:26035; SLC48A1.
DR HPA; ENSG00000211584; Tissue enhanced (brain).
DR MIM; 612187; gene.
DR neXtProt; NX_Q6P1K1; -.
DR OpenTargets; ENSG00000211584; -.
DR PharmGKB; PA164725837; -.
DR VEuPathDB; HostDB:ENSG00000211584; -.
DR eggNOG; ENOG502S0AI; Eukaryota.
DR GeneTree; ENSGT00390000002307; -.
DR HOGENOM; CLU_148774_0_0_1; -.
DR InParanoid; Q6P1K1; -.
DR OMA; YLSCIWS; -.
DR OrthoDB; 1615209at2759; -.
DR PhylomeDB; Q6P1K1; -.
DR TreeFam; TF332621; -.
DR PathwayCommons; Q6P1K1; -.
DR SignaLink; Q6P1K1; -.
DR BioGRID-ORCS; 55652; 12 hits in 1074 CRISPR screens.
DR ChiTaRS; SLC48A1; human.
DR GenomeRNAi; 55652; -.
DR Pharos; Q6P1K1; Tbio.
DR PRO; PR:Q6P1K1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q6P1K1; protein.
DR Bgee; ENSG00000211584; Expressed in C1 segment of cervical spinal cord and 189 other tissues.
DR ExpressionAtlas; Q6P1K1; baseline and differential.
DR Genevisible; Q6P1K1; HS.
DR GO; GO:0010008; C:endosome membrane; IDA:WormBase.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005765; C:lysosomal membrane; IDA:WormBase.
DR GO; GO:0005886; C:plasma membrane; IDA:WormBase.
DR GO; GO:0020037; F:heme binding; IDA:WormBase.
DR GO; GO:0015232; F:heme transmembrane transporter activity; IDA:WormBase.
DR GO; GO:0015886; P:heme transport; IDA:WormBase.
DR InterPro; IPR026218; HRG.
DR PANTHER; PTHR31525; PTHR31525; 1.
DR Pfam; PF16954; HRG; 2.
DR PRINTS; PR02095; TRNSPORTRHRG.
PE 1: Evidence at protein level;
KW Alternative splicing; Endosome; Lysosome; Membrane; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..146
FT /note="Heme transporter HRG1"
FT /id="PRO_0000348575"
FT TRANSMEM 12..32
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 74..94
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 110..130
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOTIF 142..143
FT /note="Di-leucine motif"
FT VAR_SEQ 1..57
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_035184"
SQ SEQUENCE 146 AA; 16419 MW; EFA5D75C637713DF CRC64;
MAPSRLQLGL RAAYSGISSV AGFSIFLVWT VVYRQPGTAA MGGLAGVLAL WVLVTHVMYM
QDYWRTWLKG LRGFFFVGVL FSAVSIAAFC TFLVLAITRH QSLTDPTSYY LSSVWSFISF
KWAFLLSLYA HRYRADFADI SILSDF
