LOCUS       NM_017842               2978 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens solute carrier family 48 member 1 (SLC48A1), mRNA.
ACCESSION   NM_017842
VERSION     NM_017842.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2978)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2978)
  AUTHORS   Fogarty,F.M., O'Keeffe,J., Zhadanov,A., Papkovsky,D., Ayllon,V. and
            O'Connor,R.
  TITLE     HRG-1 enhances cancer cell invasive potential and couples glucose
            metabolism to cytosolic/extracellular pH gradient regulation by the
            vacuolar-H(+) ATPase
  JOURNAL   Oncogene 33 (38), 4653-4663 (2014)
   PUBMED   24141772
  REMARK    GeneRIF: HRG-1 may represent a novel target for selectively
            disrupting V-ATPase activity and the metastatic potential of cancer
            cells.
REFERENCE   3  (bases 1 to 2978)
  AUTHORS   White,C., Yuan,X., Schmidt,P.J., Bresciani,E., Samuel,T.K.,
            Campagna,D., Hall,C., Bishop,K., Calicchio,M.L., Lapierre,A.,
            Ward,D.M., Liu,P., Fleming,M.D. and Hamza,I.
  TITLE     HRG1 is essential for heme transport from the phagolysosome of
            macrophages during erythrophagocytosis
  JOURNAL   Cell Metab 17 (2), 261-270 (2013)
   PUBMED   23395172
  REMARK    GeneRIF: These results reveal HRG1 as the long-sought heme
            transporter for heme-iron recycling in macrophages and suggest that
            genetic variations in HRG1 could be modifiers of human iron
            metabolism.
REFERENCE   4  (bases 1 to 2978)
  AUTHORS   Kottgen,A., Albrecht,E., Teumer,A., Vitart,V., Krumsiek,J.,
            Hundertmark,C., Pistis,G., Ruggiero,D., O'Seaghdha,C.M., Haller,T.,
            Yang,Q., Tanaka,T., Johnson,A.D., Kutalik,Z., Smith,A.V., Shi,J.,
            Struchalin,M., Middelberg,R.P., Brown,M.J., Gaffo,A.L., Pirastu,N.,
            Li,G., Hayward,C., Zemunik,T., Huffman,J., Yengo,L., Zhao,J.H.,
            Demirkan,A., Feitosa,M.F., Liu,X., Malerba,G., Lopez,L.M., van der
            Harst,P., Li,X., Kleber,M.E., Hicks,A.A., Nolte,I.M., Johansson,A.,
            Murgia,F., Wild,S.H., Bakker,S.J., Peden,J.F., Dehghan,A.,
            Steri,M., Tenesa,A., Lagou,V., Salo,P., Mangino,M., Rose,L.M.,
            Lehtimaki,T., Woodward,O.M., Okada,Y., Tin,A., Muller,C.,
            Oldmeadow,C., Putku,M., Czamara,D., Kraft,P., Frogheri,L.,
            Thun,G.A., Grotevendt,A., Gislason,G.K., Harris,T.B., Launer,L.J.,
            McArdle,P., Shuldiner,A.R., Boerwinkle,E., Coresh,J., Schmidt,H.,
            Schallert,M., Martin,N.G., Montgomery,G.W., Kubo,M., Nakamura,Y.,
            Tanaka,T., Munroe,P.B., Samani,N.J., Jacobs,D.R. Jr., Liu,K.,
            D'Adamo,P., Ulivi,S., Rotter,J.I., Psaty,B.M., Vollenweider,P.,
            Waeber,G., Campbell,S., Devuyst,O., Navarro,P., Kolcic,I.,
            Hastie,N., Balkau,B., Froguel,P., Esko,T., Salumets,A., Khaw,K.T.,
            Langenberg,C., Wareham,N.J., Isaacs,A., Kraja,A., Zhang,Q.,
            Wild,P.S., Scott,R.J., Holliday,E.G., Org,E., Viigimaa,M.,
            Bandinelli,S., Metter,J.E., Lupo,A., Trabetti,E., Sorice,R.,
            Doring,A., Lattka,E., Strauch,K., Theis,F., Waldenberger,M.,
            Wichmann,H.E., Davies,G., Gow,A.J., Bruinenberg,M., Stolk,R.P.,
            Kooner,J.S., Zhang,W., Winkelmann,B.R., Boehm,B.O., Lucae,S.,
            Penninx,B.W., Smit,J.H., Curhan,G., Mudgal,P., Plenge,R.M.,
            Portas,L., Persico,I., Kirin,M., Wilson,J.F., Mateo Leach,I., van
            Gilst,W.H., Goel,A., Ongen,H., Hofman,A., Rivadeneira,F.,
            Uitterlinden,A.G., Imboden,M., von Eckardstein,A., Cucca,F.,
            Nagaraja,R., Piras,M.G., Nauck,M., Schurmann,C., Budde,K.,
            Ernst,F., Farrington,S.M., Theodoratou,E., Prokopenko,I.,
            Stumvoll,M., Jula,A., Perola,M., Salomaa,V., Shin,S.Y.,
            Spector,T.D., Sala,C., Ridker,P.M., Kahonen,M., Viikari,J.,
            Hengstenberg,C., Nelson,C.P., Meschia,J.F., Nalls,M.A., Sharma,P.,
            Singleton,A.B., Kamatani,N., Zeller,T., Burnier,M., Attia,J.,
            Laan,M., Klopp,N., Hillege,H.L., Kloiber,S., Choi,H., Pirastu,M.,
            Tore,S., Probst-Hensch,N.M., Volzke,H., Gudnason,V., Parsa,A.,
            Schmidt,R., Whitfield,J.B., Fornage,M., Gasparini,P.,
            Siscovick,D.S., Polasek,O., Campbell,H., Rudan,I., Bouatia-Naji,N.,
            Metspalu,A., Loos,R.J., van Duijn,C.M., Borecki,I.B., Ferrucci,L.,
            Gambaro,G., Deary,I.J., Wolffenbuttel,B.H., Chambers,J.C., Marz,W.,
            Pramstaller,P.P., Snieder,H., Gyllensten,U., Wright,A.F., Navis,G.,
            Watkins,H., Witteman,J.C., Sanna,S., Schipf,S., Dunlop,M.G.,
            Tonjes,A., Ripatti,S., Soranzo,N., Toniolo,D., Chasman,D.I.,
            Raitakari,O., Kao,W.H., Ciullo,M., Fox,C.S., Caulfield,M.,
            Bochud,M. and Gieger,C.
  CONSRTM   LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
            ICBP Consortium; MAGIC Consortium
  TITLE     Genome-wide association analyses identify 18 new loci associated
            with serum urate concentrations
  JOURNAL   Nat Genet 45 (2), 145-154 (2013)
   PUBMED   23263486
REFERENCE   5  (bases 1 to 2978)
  AUTHORS   Yuan,X., Protchenko,O., Philpott,C.C. and Hamza,I.
  TITLE     Topologically conserved residues direct heme transport in
            HRG-1-related proteins
  JOURNAL   J Biol Chem 287 (7), 4914-4924 (2012)
   PUBMED   22174408
  REMARK    GeneRIF: a model in which heme is translocated across membranes
            facilitated by conserved amino acids positioned on the exoplasmic,
            cytoplasmic, and transmembrane regions of HRG-1-related proteins.
REFERENCE   6  (bases 1 to 2978)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 2978)
  AUTHORS   O'Callaghan,K.M., Ayllon,V., O'Keeffe,J., Wang,Y., Cox,O.T.,
            Loughran,G., Forgac,M. and O'Connor,R.
  TITLE     Heme-binding protein HRG-1 is induced by insulin-like growth factor
            I and associates with the vacuolar H+-ATPase to control endosomal
            pH and receptor trafficking
  JOURNAL   J Biol Chem 285 (1), 381-391 (2010)
   PUBMED   19875448
  REMARK    GeneRIF: HRG-1 regulates V-ATPase activity, which is essential for
            endosomal acidification, heme binding, and receptor trafficking in
            mammalian cells.
REFERENCE   8  (bases 1 to 2978)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 2978)
  AUTHORS   Rajagopal,A., Rao,A.U., Amigo,J., Tian,M., Upadhyay,S.K., Hall,C.,
            Uhm,S., Mathew,M.K., Fleming,M.D., Paw,B.H., Krause,M. and Hamza,I.
  TITLE     Haem homeostasis is regulated by the conserved and concerted
            functions of HRG-1 proteins
  JOURNAL   Nature 453 (7198), 1127-1131 (2008)
   PUBMED   18418376
  REMARK    GeneRIF: Human and worm proteins localize together, and bind and
            transport haem, thus establishing an evolutionarily conserved
            function for HRG-1.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC026344.1 and AC004466.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017842.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC026344.1, SRR1803613.204957.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000442218.3/ ENSP00000415998.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1308              BC026344.1         1-1308
            1309-2978           AC004466.1         108383-110052       c
FEATURES             Location/Qualifiers
     source          1..2978
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.11"
     gene            1..2978
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="solute carrier family 48 member 1"
                     /db_xref="GeneID:55652"
                     /db_xref="HGNC:HGNC:26035"
                     /db_xref="MIM:612187"
     exon            1..203
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..508
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="heme-responsive gene 1 protein homolog; solute
                     carrier family 48 (heme transporter), member 1"
                     /codon_start=1
                     /product="heme transporter HRG1"
                     /protein_id="NP_060312.2"
                     /db_xref="CCDS:CCDS8755.2"
                     /db_xref="GeneID:55652"
                     /db_xref="HGNC:HGNC:26035"
                     /db_xref="MIM:612187"
                     /translation="MAPSRLQLGLRAAYSGISSVAGFSIFLVWTVVYRQPGTAAMGGL
                     AGVLALWVLVTHVMYMQDYWRTWLKGLRGFFFVGVLFSAVSIAAFCTFLVLAITRHQS
                     LTDPTSYYLSSVWSFISFKWAFLLSLYAHRYRADFADISILSDF"
     exon            204..371
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /inference="alignment:Splign:2.1.0"
     exon            372..2978
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1876..1881
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="hexamer: AATACA"
     polyA_site      1897
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="major polyA site"
     regulatory      2959..2964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="hexamer: AATAAA"
     polyA_site      2978
                     /gene="SLC48A1"
                     /gene_synonym="hHRG-1; HRG; HRG-1; HRG1"
                     /note="major polyA site"
ORIGIN      
        1 ggcttcgggc cctgcacctg tgactctcgg ccgcgctcgc cctcggcccg cccggcgccg
       61 cagccccatg gccccgtcca ggctgcagct cggcctccgc gccgcctact ccggcatcag
      121 ctccgtggcc ggcttctcca tcttcctcgt ctggacggtg gtctaccgac agccggggac
      181 cgcggccatg ggagggctcg caggggtgct ggcactgtgg gtcctggtga cgcacgtgat
      241 gtacatgcaa gattattgga ggacctggct caaggggctg cgcggcttct tcttcgtggg
      301 cgtcctcttc tcggccgtct ccatcgctgc cttctgcacc ttcctcgtgc tggccatcac
      361 ccggcatcag agcctcacag accccaccag ctactacctc tccagcgtct ggagcttcat
      421 ttccttcaag tgggccttcc tgctcagcct ctatgcccac cgctaccggg ctgactttgc
      481 tgacatcagc atcctcagcg atttctgacc cagggggtga ggtctctgca ccctgggggg
      541 gccttaggac ctggactcag cctctgagat gttgggagag gctactccca ccccctggtg
      601 accccagaac tgtggcagaa aatacacagc aggacgagtg tggtctccca ggaagctgtc
      661 ctgcccgtcc cctttcgagg aaacctgagt gtggtagaga ggggatcctg ccatgttgct
      721 cctcatcagc ctggccagag ggcagcttta gaccttttca aatgaatctg ttttcttttc
      781 tttctttttt ttttcttttt tttttttttt tgagatggag tcttactctg tcacccaggc
      841 tggagtgcag tagtgcgatc tcagctcact gcaacctccg cctcccaggt tcaagcaatt
      901 ctcctgcctt ggcctctcaa gtagctggga ttacaggcat ctgccaccat gcccggcaaa
      961 tttttgtgtt tttagtagag acagggtttt gccatgttgg ccaggctggt ctcgaactcc
     1021 tgatctcagg tgattcaccc gcctcagcct tccaaagtgc tgggattata ggtgtgagcc
     1081 accgtgcccg gcctggatct gttttcttag cacgcagtga ggaatctttg tacttaaggc
     1141 cagggcaaca aagtcaagag gtcaaggtgt agggccatga ggcctggacc tatgctgcag
     1201 gcaagggttt ccatccccgc tgccctaggc actctcttcc caaggccagg ttgggcacct
     1261 ggggaggtca gttcagaaat atctagcaga gacctcttaa acccccatcc cagcacccca
     1321 tcctgttgtt cccagagctg gtctcccatg agtgtgctag agccagatag ccgtggcccc
     1381 ccacccatct cactcacaca cacaggcatc catacacccc agaagacttc ccaaatgagg
     1441 ccagactcag ggtcacgggg aatgtgcttc tgcccctgta agggctttgg ggaagggggc
     1501 aacatagtag aggctggaaa gagcccccaa acctgtaccc atgcccctcc agccctgcgt
     1561 ttccattctg ccttctcaga gtgcccttgc tgcacccaga ccaccggcca ggagagacct
     1621 tctctcccac tccagcccct ctcactgccc ttcaactaga gctttcacct ttttacattt
     1681 cccttctgaa ggacacaaat ctgcttttct gcccatacac tggcccaagg gctcacctaa
     1741 cttgggaggg aaggggctgt tggtacaagg atgattttct gttagactgc cattttgcac
     1801 ggtctccccc ttcccatctg atgtgtcctg cccctcagct ctttgcctta tctgtgtcac
     1861 tgtcacttta gcaaaaatac agcggccatt tgtatcagcc tctggtggtt gcttgtgagg
     1921 tgggactctt gcgggaacag gtggactttg ggaggagtgg gcagggaggg agtggtagtg
     1981 gcagttctcg agctatctga ttaagccatt ccgctagttc agttgtgccc tggagggcag
     2041 gggacagagt cagtatctct ggggctgcag gccctcttgc cttggccctc ctggcatggg
     2101 gtaaccacca gctcagctct cctcctccag ctttcctctc tctagcacac cccagccagg
     2161 gcaaggatgc ccacgggcat agctacagca acccctgcgg gatttggtgt ccacacccga
     2221 gaggccaggc cagatgggaa agggattagc gcctcttccc tcacactctg ccaggctgcc
     2281 aggagcttgg gccaggtcta aggtaatgag gtgctcctct tcctgctgga aaaaccggac
     2341 agactcagaa ccacaaaggc aggtgctgcc agcctggcgc cttcctctct gcttaggctg
     2401 ggtgagcttg tccaggcctg tgcctcaccc cttctctctt ctaggctcag tgtatgctta
     2461 atcaggcatg gtgcatcaga gcgggaagga gccatcaaca gtgtatactt ctggagcctt
     2521 ctactgataa acagaggccc cagaagacga tttgacttac ctgagctccc agctgggact
     2581 taaacccagg tgtgtctgag tcacaactct tcggggatgc cgtggtgagc tggggctgag
     2641 ctcctgtatt cccactcccc caccccaccc ccactcctgc catatcaggg ctggtctctg
     2701 tggactcagc ccagggctgc ctcctctttg tcaccccaaa gtggggcagc cagggacagc
     2761 cagggtgtgt tcagaatggg ttcttcctgc agggcaggaa gggcagattg ttaaaggggc
     2821 tgcggcccag accaccctgg tccctcctcc ggcagtgact cagacccaca ctgtgccgtg
     2881 cagctgtgtg ccctgcacac ccgcttgacg gcgcactgct cacttctggg gggccctttc
     2941 agaggcactt ttaaagcaaa taaaacattt attgttca
//
