LOCUS       NM_017791               3629 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens FLVCR choline and putative heme transporter 2
            (FLVCR2), transcript variant 1, mRNA.
ACCESSION   NM_017791
VERSION     NM_017791.3
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 3629)
  AUTHORS   Wang,H., You,X., Wang,J., Chen,X., Gao,Y., Wang,M., Zhang,W.,
            Zhang,J., Yu,Y., Han,B., Qi,M., Liu,X., Lou,H. and Dong,T.
  TITLE     MFSD7C protects hemolysis-induced lung impairments by inhibiting
            ferroptosis
  JOURNAL   Nat Commun 15 (1), 8226 (2024)
   PUBMED   39300060
  REMARK    GeneRIF: MFSD7C protects hemolysis-induced lung impairments by
            inhibiting ferroptosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3629)
  AUTHORS   Ri,K., Weng,T.H., Claveras Cabezudo,A., Josting,W., Zhang,Y.,
            Bazzone,A., Leong,N.C.P., Welsch,S., Doty,R.T., Gursu,G.,
            Lim,T.J.Y., Schmidt,S.L., Abkowitz,J.L., Hummer,G., Wu,D.,
            Nguyen,L.N. and Safarian,S.
  TITLE     Molecular mechanism of choline and ethanolamine transport in humans
  JOURNAL   Nature 630 (8016), 501-508 (2024)
   PUBMED   38778100
  REMARK    GeneRIF: Molecular mechanism of choline and ethanolamine transport
            in humans.
REFERENCE   3  (bases 1 to 3629)
  AUTHORS   Cater,R.J., Mukherjee,D., Gil-Iturbe,E., Erramilli,S.K., Chen,T.,
            Koo,K., Santander,N., Reckers,A., Kloss,B., Gawda,T., Choy,B.C.,
            Zhang,Z., Katewa,A., Larpthaveesarp,A., Huang,E.J., Mooney,S.W.J.,
            Clarke,O.B., Yee,S.W., Giacomini,K.M., Kossiakoff,A.A., Quick,M.,
            Arnold,T. and Mancia,F.
  TITLE     Structural and molecular basis of choline uptake into the brain by
            FLVCR2
  JOURNAL   Nature 629 (8012), 704-709 (2024)
   PUBMED   38693257
  REMARK    GeneRIF: Structural and molecular basis of choline uptake into the
            brain by FLVCR2.
REFERENCE   4  (bases 1 to 3629)
  AUTHORS   Nguyen,X.T.A., Le,T.N.U., Nguyen,T.Q., Thi Thuy Ha,H., Artati,A.,
            Leong,N.C.P., Nguyen,D.T., Lim,P.Y., Susanto,A.V., Huang,Q.,
            Fam,L., Leong,L.N., Bonne,I., Lee,A., Granadillo,J.L., Gooch,C.,
            Yu,D., Huang,H., Soong,T.W., Chang,M.W., Wenk,M.R., Adamski,J.,
            Cazenave-Gassiot,A. and Nguyen,L.N.
  TITLE     MFSD7c functions as a transporter of choline at the blood-brain
            barrier
  JOURNAL   Cell Res 34 (3), 245-257 (2024)
   PUBMED   38302740
  REMARK    GeneRIF: MFSD7c functions as a transporter of choline at the
            blood-brain barrier.
REFERENCE   5  (bases 1 to 3629)
  AUTHORS   Duffy,S.P., Shing,J., Saraon,P., Berger,L.C., Eiden,M.V., Wilde,A.
            and Tailor,C.S.
  TITLE     The Fowler syndrome-associated protein FLVCR2 is an importer of
            heme
  JOURNAL   Mol Cell Biol 30 (22), 5318-5324 (2010)
   PUBMED   20823265
  REMARK    GeneRIF: Results report the cellular function of FLVCR2 as an
            importer of heme.
REFERENCE   6  (bases 1 to 3629)
  AUTHORS   Thomas,S., Encha-Razavi,F., Devisme,L., Etchevers,H.,
            Bessieres-Grattagliano,B., Goudefroye,G., Elkhartoufi,N.,
            Pateau,E., Ichkou,A., Bonniere,M., Marcorelle,P., Parent,P.,
            Manouvrier,S., Holder,M., Laquerriere,A., Loeuillet,L., Roume,J.,
            Martinovic,J., Mougou-Zerelli,S., Gonzales,M., Meyer,V.,
            Wessner,M., Feysot,C.B., Nitschke,P., Leticee,N., Munnich,A.,
            Lyonnet,S., Wookey,P., Gyapay,G., Foliguet,B., Vekemans,M. and
            Attie-Bitach,T.
  TITLE     High-throughput sequencing of a 4.1 Mb linkage interval reveals
            FLVCR2 deletions and mutations in lethal cerebral vasculopathy
  JOURNAL   Hum Mutat 31 (10), 1134-1141 (2010)
   PUBMED   20690116
  REMARK    GeneRIF: High-throughput sequence data identified mutations and a
            large deletion in the FLVCR2 gene casuing lethal cerebral
            vasculopathy.
REFERENCE   7  (bases 1 to 3629)
  AUTHORS   Meyer,E., Ricketts,C., Morgan,N.V., Morris,M.R., Pasha,S.,
            Tee,L.J., Rahman,F., Bazin,A., Bessieres,B., Dechelotte,P.,
            Yacoubi,M.T., Al-Adnani,M., Marton,T., Tannahill,D., Trembath,R.C.,
            Fallet-Bianco,C., Cox,P., Williams,D. and Maher,E.R.
  TITLE     Mutations in FLVCR2 are associated with proliferative vasculopathy
            and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
  JOURNAL   Am J Hum Genet 86 (3), 471-478 (2010)
   PUBMED   20206334
  REMARK    GeneRIF: Direct sequencing of candidate genes within the target
            interval in chromosome 14q24.3 revealed five different germline
            mutations in FLVCR2 in five families with Fowler syndrome.
REFERENCE   8  (bases 1 to 3629)
  AUTHORS   Brown,J.K., Fung,C. and Tailor,C.S.
  TITLE     Comprehensive mapping of receptor-functioning domains in feline
            leukemia virus subgroup C receptor FLVCR1
  JOURNAL   J Virol 80 (4), 1742-1751 (2006)
   PUBMED   16439531
REFERENCE   9  (bases 1 to 3629)
  AUTHORS   Brasier,G., Tikellis,C., Xuereb,L., Craigie,J., Casley,D.,
            Kovacs,C.S., Fudge,N.J., Kalnins,R., Cooper,M.E. and Wookey,P.J.
  TITLE     Novel hexad repeats conserved in a putative transporter with
            restricted expression in cell types associated with growth, calcium
            exchange and homeostasis
  JOURNAL   Exp Cell Res 293 (1), 31-42 (2004)
   PUBMED   14729055
REFERENCE   10 (bases 1 to 3629)
  AUTHORS   Wimer,B.M.
  TITLE     Letter: Remission of lymphoblastic leukaemia
  JOURNAL   Lancet 1 (7954), 316 (1976)
   PUBMED   55640
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA166212.1, BC019087.2,
            AY260577.1 and CR739521.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_017791.2.
            
            Summary: This gene encodes a member of the major facilitator
            superfamily. The encoded transmembrane protein is a calcium
            transporter. Unlike the related protein feline leukemia virus
            subgroup C receptor 1, the protein encoded by this locus does not
            bind to feline leukemia virus subgroup C envelope protein. The
            encoded protein may play a role in development of brain vascular
            endothelial cells, as mutations at this locus have been associated
            with proliferative vasculopathy and hydranencephaly-hydrocephaly
            syndrome. Alternatively spliced transcript variants have been
            described.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK000378.1, AY260577.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000238667.9/ ENSP00000238667.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                DA166212.1         24-37
            15-2574             BC019087.2         1-2560
            2575-3626           AY260577.1         2578-3629
            3627-3629           CR739521.1         596-598
FEATURES             Location/Qualifiers
     source          1..3629
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..3629
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /note="FLVCR choline and putative heme transporter 2"
                     /db_xref="GeneID:55640"
                     /db_xref="HGNC:HGNC:20105"
                     /db_xref="MIM:610865"
     exon            1..1022
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     CDS             354..1934
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     feline leukemia virus subgroup C receptor-related protein
                     2; calcium-chelate transporter; feline leukemia virus
                     subgroup C cellular receptor family member 2; heme
                     transporter FLVCR2; FLVCR heme transporter 2;
                     choline/ethanolamine transporter FLVCR2"
                     /codon_start=1
                     /product="choline/ethanolamine transporter FLVCR2 isoform
                     1"
                     /protein_id="NP_060261.2"
                     /db_xref="CCDS:CCDS9844.1"
                     /db_xref="GeneID:55640"
                     /db_xref="HGNC:HGNC:20105"
                     /db_xref="MIM:610865"
                     /translation="MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPS
                     VSVHPSSSAHPSALAQPSGLAHPSSSGPEDLSVIKVSRRRWAVVLVFSCYSMCNSFQW
                     IQYGSINNIFMHFYGVSAFAIDWLSMCYMLTYIPLLLPVAWLLEKFGLRTIALTGSAL
                     NCLGAWVKLGSLKPHLFPVTVVGQLICSVAQVFILGMPSRIASVWFGANEVSTACSVA
                     VFGNQLGIAIGFLVPPVLVPNIEDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKP
                     KYPPSRAQSLSYALTSPDASYLGSIARLFKNLNFVLLVITYGLNAGAFYALSTLLNRM
                     VIWHYPGEEVNAGRIGLTIVIAGMLGAVISGIWLDRSKTYKETTLVVYIMTLVGMVVY
                     TFTLNLGHLWVVFITAGTMGFFMTGYLPLGFEFAVELTYPESEGISSGLLNISAQVFG
                     IIFTISQGQIIDNYGTKPGNIFLCVFLTLGAALTAFIKADLRRQKANKETLENKLQEE
                     EEESNTSKVPTAVSEDHL"
     exon            1023..1164
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1305
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1306..1373
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1374..1477
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1588
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1694
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1695..1806
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1862
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..3629
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3611..3616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /note="hexamer: AATAAA"
     polyA_site      3629
                     /gene="FLVCR2"
                     /gene_synonym="C14orf58; CCT; EPV; FLVCRL14q; MFSD7C;
                     PVHH; SLC49A2"
                     /note="major polyA site"
ORIGIN      
        1 agaggactct gcgggcgaag tggctgcgca aggagagaac ttttcctgca caaggaacgc
       61 ctcgtgggga gacccaaggc aggagcggtc cggagccggc tgcggcgtgt gcggccggcc
      121 ttgggacagc gatcgccgcg ggtggcaaca gagagcccca agcaaaagtg ggagcaggag
      181 cttggaggtg agcacaggaa gccccacttg aggcttttac gcagcctcta gtctctgttt
      241 cttctggaat aggcaagtgt cctttcaact ctaagagacc agcagaggcc actgtccctt
      301 aagactgccg gagtcctcac cacttctcca ggattccaga ggagactgtg gcgatggtga
      361 atgaaggtcc caaccaggaa gagagcgatg acacccctgt gccggagtcc gcactccaag
      421 cggaccccag cgtctcggtc catcccagcg tctcggtcca tcccagcgtc tccatcaacc
      481 ccagcgtctc tgtccacccc agcagttcgg cccaccccag tgccttagcc caacccagtg
      541 gcttggctca ccccagtagc tcgggccctg aggacctcag cgtgatcaag gtgagcaggc
      601 gccgttgggc cgtggtcctg gtgtttagct gctactccat gtgcaactcc tttcagtgga
      661 tccagtacgg ctccatcaat aacatcttca tgcacttcta cggtgtcagt gcctttgcca
      721 ttgactggct gtccatgtgc tacatgctga cttacatccc tctgctcctg ccagtggctt
      781 ggctgctgga gaagttcggc ctgcgcacca ttgctctcac tggctcggct ctcaactgcc
      841 tgggggcctg ggtgaagctg ggcagcctga agccgcatct ctttccggtc accgtggtgg
      901 gccagctcat ctgctctgtg gcccaggttt tcatcctggg catgccctcc cgcatcgctt
      961 ccgtctggtt cggggctaat gaggtttcaa cagcctgctc cgtggctgtc tttggcaatc
     1021 agcttggaat tgcgattggg ttcttggtcc ctcctgtttt ggtacccaac attgaagacc
     1081 gggacgagct tgcctaccac atcagcatca tgttctatat aataggaggt gtggccactc
     1141 tcctcctcat ccttgtcatc attgtgttca aggagaaacc taaatatccc cccagcaggg
     1201 cccaatccct gagctatgcc ttgacctctc ctgatgcctc atacttaggt tccatcgccc
     1261 ggctcttcaa aaatctcaac tttgtgctgc ttgtcatcac ctatggtctg aatgctggtg
     1321 ctttttatgc cttgtccact cttctgaatc gcatggtgat ctggcactac ccgggggaag
     1381 aagtgaatgc tggaagaatt ggcctgacga tcgtcattgc aggaatgctt ggggctgtga
     1441 tctcaggaat ctggctggat aggtccaaaa cctacaaaga gacaaccctg gtagtctata
     1501 tcatgacact ggtgggcatg gtggtgtaca cgtttacctt gaacctggga cacctgtggg
     1561 tagtgttcat cactgctggc acaatgggct tctttatgac tggctatctc ccactgggat
     1621 ttgagtttgc tgtggagctc acgtacccag aatcagaagg catctcctcc ggcctcctca
     1681 acatatctgc acaggtattt gggatcatct ttaccatctc ccagggccag attattgaca
     1741 actatggaac caagcctggg aacatcttcc tgtgtgtgtt ccttactctt ggagcagccc
     1801 tcactgcatt cattaaggca gatctccgga gacagaaagc aaacaaagaa actcttgaga
     1861 acaaactcca agaggaggag gaggagagca acaccagcaa agtgcccact gctgtgtcag
     1921 aggatcatct ctgagaggaa ggtggtgaca actcagggaa cacgaacacc ccaccttttc
     1981 cttcagcaca gctctcaccg ccagcacaaa gggcttcgct agagatgttt ttggagggaa
     2041 tcagtgggac tatttgtggc atggatggcc tattcctcct agaacccacg taagagcttg
     2101 gatgatttag ttggagaaaa ttgcacctat caccaaatgc aaatttgatt cccacctcca
     2161 ccccctttta ggttatggga gttggtgttg ggacagggtg gcagagaata ttggagtcaa
     2221 tcctagcttg gtctcttgcc ttccctcttt tcctccatcc atcgtggaca atgcctgcaa
     2281 aattttcaca ggaagaaagc ctattcagga tattaacttg aaatttccag tgtcctaaga
     2341 gcctctcatg aagcccagtt ctaataagtg gcaagctgct ctgccggggt catctcctgg
     2401 gtcatcggac tgattgctca agttctgcag gagaggaagc accattagaa caactccatc
     2461 agaacagctc caccgggact tgtgggccta aattttcctg gcctaacggg tctgtctcca
     2521 aaccctcttt cctaagagct gagcaaacca accataataa acttgacaaa agactttgtt
     2581 gtggccatga cagagatacc gactcaggag ggctacctac ctaggtgtga tcatgctggg
     2641 ggctaccttc tgagtatatt tgtgaaagca catatttggg aactctggta gcttgagttg
     2701 ggaatgggaa ggttcttttt tacagaagta cttccccagg gacttctgtg tgtcacagtc
     2761 acctctgatg cctttatctt gatgttgcat tgggaatctc agccatcagc ccaagtgctt
     2821 gttttattcc aaggcagggt aatccccgtc aacttactct aacctttgct gaaaactaat
     2881 cttgattcat tctactctga aaatccaaag gtgcttctga gagataagag ggaaggggta
     2941 gaaggaaagg tgccccttga aatgggaatt gagcctgtta gaattaaaag cttatctcac
     3001 ctctgctggg gacagtattt gcaccaccaa cccctctcct cacctgcttt gagcgataat
     3061 ctttatcaga tattctaaac ttaaagggat tccctttaaa ccaactcaag ctgatctttc
     3121 ctatctagcc tgctgtttgg ctgtactcat gggctttggt aatatctcct aaaaatgagg
     3181 ttttggtaat ttttcctatg cattgggcaa ctgtgatcgt gaccactgtg ctgtcttgct
     3241 ccagccactg ccctggcctc agcatatcag ggcagcctgt gctggctgca atactgtggt
     3301 gcttgggcca ctgcctgaga ggagccaggt ttgtgtgtgt ctgcatgtgt gtgtgtgtgt
     3361 gtttgtacag attcaagcaa tggatgcaag gaacatgctg tatgtaatag aagaaagaag
     3421 tccacgtttt cggcagaagt agtgagtcag tgtggaagag aggtgagggt gtgctttact
     3481 ttttgataaa gagaaagatg tttactcata aacccttcaa aaggtattaa caaaatgttt
     3541 accaaaccta ttgctttatt ttaaaaacat aatttgtgtt ttctatttgt aagatctgac
     3601 atttcgaggc aataaaaact tctcagaaa
//
