LOCUS       NM_052859               5081 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens RFT1 glycolipid translocator homolog (RFT1), mRNA.
ACCESSION   NM_052859
VERSION     NM_052859.4
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 5081)
  AUTHORS   Hirata,E., Sakata,K.T., Dearden,G.I., Noor,F., Menon,I.,
            Chiduza,G.N. and Menon,A.K.
  TITLE     Molecular characterization of Rft1, an ER membrane protein
            associated with congenital disorder of glycosylation RFT1-CDG
  JOURNAL   J Biol Chem 300 (8), 107584 (2024)
   PUBMED   39025454
  REMARK    GeneRIF: Molecular characterization of Rft1, an ER membrane protein
            associated with congenital disorder of glycosylation RFT1-CDG.
REFERENCE   2  (bases 1 to 5081)
  AUTHORS   Chen,S., Pei,C.X., Xu,S., Li,H., Liu,Y.S., Wang,Y., Jin,C., Dean,N.
            and Gao,X.D.
  TITLE     Rft1 catalyzes lipid-linked oligosaccharide translocation across
            the ER membrane
  JOURNAL   Nat Commun 15 (1), 5157 (2024)
   PUBMED   38886340
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5081)
  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   4  (bases 1 to 5081)
  AUTHORS   Abiramalatha,T., Arunachal,G., Muthusamy,K. and Thomas,N.
  TITLE     A family with floppy neonates with severe respiratory
            insufficiency: A lethal phenotype of RFT1-CDG due to a novel
            mutation
  JOURNAL   Eur J Med Genet 62 (4), 248-253 (2019)
   PUBMED   30071302
  REMARK    GeneRIF: A novel RFT1 missense mutation was identified in a family
            with history of neonatal deaths due to severe respiratory
            insufficiency.
REFERENCE   5  (bases 1 to 5081)
  AUTHORS   Bastaki,F., Bizzari,S., Hamici,S., Nair,P., Mohamed,M., Saif,F.,
            Malik,E.M., Al-Ali,M.T. and Hamzeh,A.R.
  TITLE     Single-center experience of N-linked Congenital Disorders of
            Glycosylation with a Summary of Molecularly Characterized Cases in
            Arabs
  JOURNAL   Ann Hum Genet 82 (1), 35-47 (2018)
   PUBMED   28940310
REFERENCE   6  (bases 1 to 5081)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 5081)
  AUTHORS   Jaeken,J., Vleugels,W., Regal,L., Corchia,C., Goemans,N.,
            Haeuptle,M.A., Foulquier,F., Hennet,T., Matthijs,G. and
            Dionisi-Vici,C.
  TITLE     RFT1-CDG: deafness as a novel feature of congenital disorders of
            glycosylation
  JOURNAL   J Inherit Metab Dis 32 Suppl 1, S335-S338 (2009)
   PUBMED   19856127
  REMARK    GeneRIF: Six patients with RFT1-CDG show sensorineural deafness as
            part of a severe neurological syndrome
REFERENCE   8  (bases 1 to 5081)
  AUTHORS   Haeuptle,M.A., Pujol,F.M., Neupert,C., Winchester,B.,
            Kastaniotis,A.J., Aebi,M. and Hennet,T.
  TITLE     Human RFT1 deficiency leads to a disorder of N-linked glycosylation
  JOURNAL   Am J Hum Genet 82 (3), 600-606 (2008)
   PUBMED   18313027
  REMARK    GeneRIF: RFT1 deficiency in both yeast and human cells leads to the
            accumulation of incomplete DolPP-GlcNAc(2)Man(5) and to a profound
            glycosylation disorder in humans.
REFERENCE   9  (bases 1 to 5081)
  AUTHORS   Helenius,J., Ng,D.T., Marolda,C.L., Walter,P., Valvano,M.A. and
            Aebi,M.
  TITLE     Translocation of lipid-linked oligosaccharides across the ER
            membrane requires Rft1 protein
  JOURNAL   Nature 415 (6870), 447-450 (2002)
   PUBMED   11807558
REFERENCE   10 (bases 1 to 5081)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC043595.1, AC096887.2 and
            AL713685.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_052859.3.
            
            Summary: This gene encodes an enzyme which catalyzes the
            translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the
            cytoplasmic to the luminal side of the endoplasmic reticulum
            membrane in the pathway for the N-glycosylation of proteins.
            Mutations in this gene are associated with congenital disorder of
            glycosylation type In.[provided by RefSeq, Dec 2008].
            
            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 :: KY814482.1, SRR1803614.119714.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296292.8/ ENSP00000296292.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2110              BC043595.1         13-2122
            2111-2842           AC096887.2         110966-111697       c
            2843-4093           AL713685.1         1-1251
            4094-4611           AC096887.2         109197-109714       c
            4612-5081           AL713685.1         1770-2239
FEATURES             Location/Qualifiers
     source          1..5081
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.1"
     gene            1..5081
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="RFT1 glycolipid translocator homolog"
                     /db_xref="GeneID:91869"
                     /db_xref="HGNC:HGNC:30220"
                     /db_xref="MIM:611908"
     exon            1..98
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1661
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="putative endoplasmic reticulum multispan
                     transmembrane protein; protein RFT1 homolog; RFT1,
                     requiring fifty three 1 homolog; congenital disorder of
                     glycosylation 1N"
                     /codon_start=1
                     /product="man(5)GlcNAc(2)-PP-dolichol translocation
                     protein RFT1"
                     /protein_id="NP_443091.1"
                     /db_xref="CCDS:CCDS2869.1"
                     /db_xref="GeneID:91869"
                     /db_xref="HGNC:HGNC:30220"
                     /db_xref="MIM:611908"
                     /translation="MGSQEVLGHAARLASSGLLLQVLFRLITFVLNAFILRFLSKEIV
                     GVVNVRLTLLYSTTLFLAREAFRRACLSGGTQRDWSQTLNLLWLTVPLGVFWSLFLGW
                     IWLQLLEVPDPNVVPHYATGVVLFGLSAVVELLGEPFWVLAQAHMFVKLKVIAESLSV
                     ILKSVLTAFLVLWLPHWGLYIFSLAQLFYTTVLVLCYVIYFTKLLGSPESTKLQTLPV
                     SRITDLLPNITRNGAFINWKEAKLTWSFFKQSFLKQILTEGERYVMTFLNVLNFGDQG
                     VYDIVNNLGSLVARLIFQPIEESFYIFFAKVLERGKDATLQKQEDVAVAAAVLESLLK
                     LALLAGLTITVFGFAYSQLALDIYGGTMLSSGSGPVLLRSYCLYVLLLAINGVTECFT
                     FAAMSKEEVDRYNFVMLALSSSFLVLSYLLTRWCGSVGFILANCFNMGIRITQSLCFI
                     HRYYRRSPHRPLAGLHLSPVLLGTFALSGGVTAVSEVFLCCEQGWPARLAHIAVGAFC
                     LGATLGTAFLTETKLIHFLRTQLGVPRRTDKMT"
     exon            99..184
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            185..301
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            302..491
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            492..593
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            594..731
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            732..810
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            811..861
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            862..992
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1137
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1243
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1493
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..5081
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1888..1893
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="hexamer: AATAAT"
     polyA_site      1916
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="major polyA site"
     regulatory      2016..2021
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="hexamer: AATAAT"
     polyA_site      2038
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
     polyA_site      2146
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
     polyA_site      2170
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
     regulatory      2556..2561
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="hexamer: AATAAG"
     polyA_site      2576
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
     polyA_site      2770
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
     regulatory      5052..5057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
                     /note="hexamer: AATAAA"
     polyA_site      5081
                     /gene="RFT1"
                     /gene_synonym="CDG1N; SLC76A1"
ORIGIN      
        1 ggcatttcct ggtgtctgag cctggcgcgg aggctatggg cagccaggag gtgctgggcc
       61 acgcggcccg gctggcctcc tccggtctcc tcctgcaggt gttgtttcgg ttgatcacct
      121 ttgtcttgaa tgcatttatt cttcgcttcc tgtcaaagga aatcgttggc gtagtaaatg
      181 taagactaac gctgctttac tcaaccaccc tcttcctggc cagagaggcc ttccgcagag
      241 catgtctcag tgggggcacc cagcgagact ggagccagac cctcaacctg ctgtggctaa
      301 cagtccccct gggtgtgttt tggtccttat tcctgggctg gatctggttg cagctgcttg
      361 aagtgcctga tcctaatgtt gtccctcact atgcaactgg agtggtgctg tttggtctct
      421 cggcagtggt ggagcttcta ggagagccct tttgggtctt ggcacaagca catatgtttg
      481 tgaagctcaa ggtgattgca gagagcctgt cggtaattct taagagcgtt ctgacagctt
      541 ttctcgtgct gtggttgcct cactggggat tgtacatttt ctctttggcc cagcttttct
      601 ataccacagt tctggtgctc tgctatgtta tttatttcac aaagttactg ggttccccag
      661 aatcaaccaa gcttcaaact cttcctgtct ccagaataac agatctgtta cccaatatta
      721 caagaaatgg agcgtttata aactggaaag aggctaaact gacttggagt tttttcaaac
      781 agtctttctt gaaacagatt ttgacagaag gcgagcgata tgtgatgaca tttttgaatg
      841 tattgaactt tggtgatcag ggtgtgtatg atatagtgaa taatcttggc tcccttgtgg
      901 ccagattaat tttccagcca atagaggaaa gtttttatat attttttgct aaggtgctgg
      961 agaggggaaa ggatgccaca cttcagaagc aggaggacgt tgctgtggct gctgcagtct
     1021 tggagtccct gctcaagctg gccctgctgg ccggcctgac catcactgtt tttggctttg
     1081 cctattctca gctggctctg gatatctacg gagggaccat gcttagctca ggatccggtc
     1141 ctgttttgct gcgttcctac tgtctctatg ttctcctgct tgccatcaat ggagtgacag
     1201 agtgtttcac atttgctgcc atgagcaaag aggaggtcga caggtacaat tttgtgatgc
     1261 tggccctgtc ctcctcattc ctggtgttat cctatctctt gacccgttgg tgtggcagcg
     1321 tgggcttcat cttggccaac tgctttaaca tgggcattcg gatcacgcag agcctttgct
     1381 tcatccaccg ctactaccga aggagccccc acaggcccct ggctggcctg cacctatcgc
     1441 cagtcctgct cgggacattt gccctcagtg gtggggttac tgctgtttcg gaggtattcc
     1501 tctgctgtga gcagggctgg ccagccagac tggcacacat tgctgtgggg gccttctgtc
     1561 tgggagcaac tctcgggaca gcattcctca cagagaccaa gctgatccat ttcctcagga
     1621 ctcagttagg tgtgcccaga cgcactgaca aaatgacatg acttcaggga agcctggaca
     1681 cccgaggcac ctggaccagc tatgggtagt tctgtgggtg gaacacattc tgtgtaagag
     1741 ccccactgag ggctctgcag cggagtgaca gcaaccccag agatgaggca ccagagagtg
     1801 ccactgcatg agacacctgt gaccattcga agtctgaaat gcgggggggg agtttcattt
     1861 ttaagtgaag accaaaagcc ctttaaaaat aatagttttt tatcatttta tagtaatcag
     1921 cattttctct tttactaata tactcattcc ttttgcgtat gattggcctt tggagctaca
     1981 tgctccaaca aactatatct taattgttaa ctgttaataa ttatctggcc cagaaaaaga
     2041 gatgcagtga ttttaccctt cacaggaata ttgaacttct tctgtaaaag agagagagaa
     2101 acctctctct ctcatgcacc acatggaaac agagtgtggc cctgaagttg tggctttctt
     2161 tgtgtcaaaa ctgtggtctg agtttttaga gaaggaaaaa tgctactcag tgagaaatcc
     2221 aagaaatgaa accaggaagg ttttcagatc acatttccca gagtgagttc gggagaatct
     2281 tgcctgtcgt gatcacactg ttccccgccg ccccaggtca gcacatactt gacccagagt
     2341 gggctctcag gatttgttga ttgaagggtg ggtgaaagct ggctggagac tcctggcctg
     2401 gccacctgca agaggcggac tttgaagaaa actgtgatcc agttgagcca ctttgtccct
     2461 gaggggaatg ctgctttgca gctttctgta acttctcaca tgggaattgc actggtgaca
     2521 gataaggttt aacagatgta cttttttatc ctcagaataa gacaaggcaa actctatatg
     2581 gctagtatta ctgagtcagg tccctcccgt tgacccatta attccagcat tgatcaatac
     2641 aaccaaattc cagccccagg acaagagtgg caggcatggg ggcctggtac tccaggctac
     2701 agtgtgagcc caggtgttct gcaccttgca gcctgcacac tgcaggtgaa atcatgagca
     2761 gtgttctgga gtgtgaagtg tttttatttt tttgttaatg tattaattcc ttttagatat
     2821 taacccccct cagaactata tgcacaaact ataacttgga tgttaataat cctgtcactc
     2881 agtgccccaa accttctgtg tctacaccta gagagagggc cagtaagggc aactcctatc
     2941 atgcattaaa atgcatgtat ttaaatctgc ttgcccagag ccagtaccca ggggctaagg
     3001 attaagacct gtcagtacac caagactggg gcccagtcac ctggcaggtt tttatctact
     3061 cagagggaga atgctttgca ctaagtggga gaaaagcagc taaatgcaag gtgtcctgag
     3121 caattagagg acctccaaag catggcctca gtcatgcctt catcgggcaa ggtcaggcca
     3181 gctcagaaaa atggatggtc ccatagggtc aagtggagca cacacggaag gcagtcctcc
     3241 ttccctccca tgtcctttct ctgtccctgg catccacaga aagggacctt cagtcctcat
     3301 gagctgcttc tctgcagctg ctgatcaccc tcccggaacc ctgcacctat cccgtgccca
     3361 cctgacccca gactcaagca tgatcctcat tctacctgcc tcggaatcac ctggattgca
     3421 agtcagaaca tggcttccca ggacccactc caggccttca gggtctgtgt ctcccaggag
     3481 gagggctctg agattggctt ttctggcaag cccacgtggc tttgatgcca ccaaggttgg
     3541 catgccccat tgtcttcctt cgtgacaggc ccaggaccat catgctcatg ctcacagtgc
     3601 ctgttctctg ctccaggaac agagctgctg ctctacaagc agccttgtga ctccggggtc
     3661 tctgggagca ggactcccca ggcttgtgct ctctcagctt gagagaggct ctatgtctga
     3721 aggcagtgct cactctctca tccctcccct gctgttcgcc cagtgctgct gtcagggcca
     3781 gctcctcttg aaagacagcc agccgcaaag gcagcccagg gcttcttccg gtgtcctgct
     3841 tccctgtatc tagggagagt tgtacatgtg gctgcgtgtt ttcccaggac tagccctgcc
     3901 gcctgggctg tcagcacttt ggcagcaggt cctctgtggt tctctgcctc tggtgcctcc
     3961 ctaaagctca gctggacctg accaggcctc tggcatttcc cctgctggac cccctagagc
     4021 cacagctgtg cctcagggag cttgcataca tgtgggccag cctgcctcac tttacccaag
     4081 tggatttggg gagcagaaat catacttttg gctttcaata ccacttatag tgaggctact
     4141 tctccatgga aacaagtctc tgaggcacaa cctttatgaa aggaaggagc attcgttggt
     4201 gagaagaaca gtatcgctga cttcctgtgc tcctctggcc acaggtaact gttggtcact
     4261 tcagatttgg cttggggtct ctcagtgagg agctgctgct gtgctgttta atgcttacct
     4321 gatggcaact tctggctctg gaaccgctac tctgccctgt tcccagccac ttcccaacct
     4381 gattcaagca gggcccctcc ttcctcctgt ctttatttat ttatttattg agacagagtc
     4441 tcactctgtc gcccaggctg gagtgcagta gcgcgatctc ggctcactgc gagctctgcc
     4501 tcctgggttc aagcgattct cttgcctcag cctcctgagt agctggggct acaggcgcct
     4561 gccaccacac ccggctaatt tttgtatttt tagtagagac agggtttcac catattggcc
     4621 aggctggtct tgaactcctg accttgtgat ccgcccgcct cagcctccca aagtgctggg
     4681 attacaggcg tgagccaccg ctcctggcct attcttttct tttcagagac aaggtctcac
     4741 tctctcctct cgcccaggct ggagtgcagt ggtgtcatca tagctcattg cagcctcaaa
     4801 ctcctgggct caagcaatcc tcccacctca gcctcctgag tagctgggat cacaggtgtg
     4861 tgctacctca cccagctaat ttctaatttt tttttgtaga gactggatct cactgttgcc
     4921 ttgaactcct gggctcaagt gatcctcctg cctcagcctc ccaaagtgct gggattccag
     4981 accagccatt ttttttcctt aatcatgcat tcctgttgct agtttcacat cagtcccctg
     5041 gtttaataag aaataaaata ttttcttcac acttttgaaa a
//
