LOCUS       NM_001367916            4506 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens magnesium transporter 1 (MAGT1), transcript variant 1,
            mRNA.
ACCESSION   NM_001367916
VERSION     NM_001367916.1
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 4506)
  AUTHORS   Golloshi,K., Mitchell,W., Kumar,D., Malik,S., Parikh,S.,
            Aljudi,A.A., Castellino,S.M. and Chandrakasan,S.
  TITLE     HLH and Recurrent EBV Lymphoma as the presenting manifestation of
            MAGT1 Deficiency: A Systematic Review of the Expanding Disease
            Spectrum
  JOURNAL   J Clin Immunol 44 (7), 153 (2024)
   PUBMED   38896122
  REMARK    GeneRIF: HLH and Recurrent EBV Lymphoma as the presenting
            manifestation of MAGT1 Deficiency: A Systematic Review of the
            Expanding Disease Spectrum.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4506)
  AUTHORS   Zhang,J., Yang,X. and Ni,H.
  TITLE     Long non-coding RNA FLVCR1-AS1 functions as a ceRNA to aggravate
            cervical cancer cell growth by the miR-381-3p/MAGT1 axis
  JOURNAL   Arch Gynecol Obstet 306 (6), 2093-2103 (2022)
   PUBMED   35430713
  REMARK    GeneRIF: Long non-coding RNA FLVCR1-AS1 functions as a ceRNA to
            aggravate cervical cancer cell growth by the miR-381-3p/MAGT1 axis.
REFERENCE   3  (bases 1 to 4506)
  AUTHORS   Li,L., Zhang,X., Li,Y., Xiao,B., Pei,S., Jiang,H. and Zhang,X.
  TITLE     Transcription factor KLF16 activates MAGT1 to regulate the
            tumorigenesis and progression of breast cancer
  JOURNAL   Int J Mol Med 50 (3) (2022)
   PUBMED   35796007
  REMARK    GeneRIF: Transcription factor KLF16 activates MAGT1 to regulate the
            tumorigenesis and progression of breast cancer.
REFERENCE   4  (bases 1 to 4506)
  AUTHORS   Watson,C.M., Nadat,F., Ahmed,S., Crinnion,L.A., O'Riordan,S.,
            Carter,C. and Savic,S.
  TITLE     Identification of a novel MAGT1 mutation supports a diagnosis of
            XMEN disease
  JOURNAL   Genes Immun 23 (2), 66-72 (2022)
   PUBMED   35264785
  REMARK    GeneRIF: Identification of a novel MAGT1 mutation supports a
            diagnosis of XMEN disease.
REFERENCE   5  (bases 1 to 4506)
  AUTHORS   Bi,C., Zhang,X., Chen,Y., Dong,Y., Shi,Y., Lei,Y., Lv,D., Cao,X.,
            Li,W. and Shi,H.
  TITLE     MAGT1 is required for HeLa cell proliferation through regulating
            p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis
  JOURNAL   Cell Cycle 20 (21), 2233-2247 (2021)
   PUBMED   34499581
  REMARK    GeneRIF: MAGT1 is required for HeLa cell proliferation through
            regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC
            axis.
REFERENCE   6  (bases 1 to 4506)
  AUTHORS   Molinari,F., Foulquier,F., Tarpey,P.S., Morelle,W., Boissel,S.,
            Teague,J., Edkins,S., Futreal,P.A., Stratton,M.R., Turner,G.,
            Matthijs,G., Gecz,J., Munnich,A. and Colleaux,L.
  TITLE     Oligosaccharyltransferase-subunit mutations in nonsyndromic mental
            retardation
  JOURNAL   Am J Hum Genet 82 (5), 1150-1157 (2008)
   PUBMED   18455129
  REMARK    GeneRIF: study shows that mutations in two OTase-subunit genes,
            N33/TUSC3 and IAP result in autosomal-recessive nonsyndromic mental
            retardation
REFERENCE   7  (bases 1 to 4506)
  AUTHORS   Shibatani,T., David,L.L., McCormack,A.L., Frueh,K. and Skach,W.R.
  TITLE     Proteomic analysis of mammalian oligosaccharyltransferase reveals
            multiple subcomplexes that contain Sec61, TRAP, and two potential
            new subunits
  JOURNAL   Biochemistry 44 (16), 5982-5992 (2005)
   PUBMED   15835887
REFERENCE   8  (bases 1 to 4506)
  AUTHORS   Goytain,A. and Quamme,G.A.
  TITLE     Identification and characterization of a novel mammalian Mg2+
            transporter with channel-like properties
  JOURNAL   BMC Genomics 6, 48 (2005)
   PUBMED   15804357
  REMARK    GeneRIF: identifed a novel gene that encodes a protein involved
            with Mg2+-evoked transport, MagT1; results suggest that MagT1 may
            provide a selective and regulated pathway for Mg2+ transport in
            epithelial cells[MagT1]
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4506)
  AUTHORS   Kelleher,D.J., Karaoglu,D., Mandon,E.C. and Gilmore,R.
  TITLE     Oligosaccharyltransferase isoforms that contain different catalytic
            STT3 subunits have distinct enzymatic properties
  JOURNAL   Mol Cell 12 (1), 101-111 (2003)
   PUBMED   12887896
REFERENCE   10 (bases 1 to 4506)
  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 DC329979.1, BC060842.1,
            BC041014.1 and AL138743.6.
            
            Summary: This gene encodes a ubiquitously expressed magnesium
            cation transporter protein that localizes to the cell membrane.
            This protein also associates with N-oligosaccharyl transferase and
            therefore may have a role in N-glycosylation. Mutations in this
            gene cause a form of X-linked intellectual disability (XLID). This
            gene may have multiple in-frame translation initiation sites, one
            of which would encode a shorter protein with an N-terminus
            containing a signal peptide at amino acids 1-29. [provided by
            RefSeq, Jul 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803616.225927.1, BC060842.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000618282.5/ ENSP00000480732.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DC329979.1         134-138
            6-1555              BC060842.1         2-1551
            1556-2808           BC041014.1         1536-2788
            2809-3889           BC060842.1         2806-3886
            3890-4506           AL138743.6         105367-105983       c
FEATURES             Location/Qualifiers
     source          1..4506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq21.1"
     gene            1..4506
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="magnesium transporter 1"
                     /db_xref="GeneID:84061"
                     /db_xref="HGNC:HGNC:28880"
                     /db_xref="MIM:300715"
     exon            1..127
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1033
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; oligosaccharyltransferase 3 homolog B;
                     implantation-associated protein; oligosaccharyl
                     transferase subunit MAGT1;
                     dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase subunit MAGT1"
                     /codon_start=1
                     /product="dolichyl-diphosphooligosaccharide--protein
                     glycosyltransferase subunit MAGT1 isoform 1 precursor"
                     /protein_id="NP_001354845.1"
                     /db_xref="CCDS:CCDS94636.1"
                     /db_xref="GeneID:84061"
                     /db_xref="HGNC:HGNC:28880"
                     /db_xref="MIM:300715"
                     /translation="MAARWRFWCVSVTMVVALLIVCDVPSASAQRKKEMVLSEKVSQL
                     MEWTNKRPVIRMNGDKFRRLVKAPPRNYSVIVMFTALQLHRQCVVCKQADEEFQILAN
                     SWRYSSAFTNRIFFAMVDFDEGSDVFQMLNMNSAPTFINFPAKGKPKRGDTYELQVRG
                     FSAEQIARWIADRTDVNIRVIRPPNYAGPLMLGLLLAVIGGLVYLRRSNMEFLFNKTG
                     WAFAALCFVLAMTSGQMWNHIRGPPYAHKNPHTGHVNYIHGSSQAQFVAETHIVLLFN
                     GGVTLGMVLLCEAATSDMDIGKRKIMCVAGIGLVVLFFSWMLSIFRSKYHGYPYSFLM
                     S"
     exon            128..297
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            298..415
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            416..556
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            557..697
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            698..787
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            788..851
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            852..926
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1017
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..4506
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3869..3874
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="hexamer: AATAAA"
     polyA_site      3889
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="major polyA site"
     regulatory      3980..3985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="hexamer: ATTAAA"
     polyA_site      4000
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
     regulatory      4221..4226
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="hexamer: AATAAA"
     polyA_site      4244
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
     regulatory      4417..4422
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="hexamer: AGTAAA"
     polyA_site      4440
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
     regulatory      4483..4488
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
                     /note="hexamer: ATTAAA"
     polyA_site      4506
                     /gene="MAGT1"
                     /gene_synonym="bA217H1.1; CDG1CC; IAP; MRX95; OST3B;
                     PRO0756; SLC58A1; XMEN"
ORIGIN      
        1 acttatagaa gggagaggag cgaacatggc agcgcgttgg cggttttggt gtgtctctgt
       61 gaccatggtg gtggcgctgc tcatcgtttg cgacgttccc tcagcctctg cccaaagaaa
      121 gaaggagatg gtgttatctg aaaaggttag tcagctgatg gaatggacta acaaaagacc
      181 tgtaataaga atgaatggag acaagttccg tcgccttgtg aaagccccac cgagaaatta
      241 ctccgttatc gtcatgttca ctgctctcca actgcataga cagtgtgtcg tttgcaagca
      301 agctgatgaa gaattccaga tcctggcaaa ctcctggcga tactccagtg cattcaccaa
      361 caggatattt tttgccatgg tggattttga tgaaggctct gatgtatttc agatgctaaa
      421 catgaattca gctccaactt tcatcaactt tcctgcaaaa gggaaaccca aacggggtga
      481 tacatatgag ttacaggtgc ggggtttttc agctgagcag attgcccggt ggatcgccga
      541 cagaactgat gtcaatatta gagtgattag acccccaaat tatgctggtc cccttatgtt
      601 gggattgctt ttggctgtta ttggtggact tgtgtatctt cgaagaagta atatggaatt
      661 tctctttaat aaaactggat gggcttttgc agctttgtgt tttgtgcttg ctatgacatc
      721 tggtcaaatg tggaaccata taagaggacc accatatgcc cataagaatc cccacacggg
      781 acatgtgaat tatatccatg gaagcagtca agcccagttt gtagctgaaa cacacattgt
      841 tcttctgttt aatggtggag ttaccttagg aatggtgctt ttatgtgaag ctgctacctc
      901 tgacatggat attggaaagc gaaagataat gtgtgtggct ggtattggac ttgttgtatt
      961 attcttcagt tggatgctct ctatttttag atctaaatat catggctacc catacagctt
     1021 tctgatgagt taaaaaggtc ccagagatat atagacactg gagtactgga aattgaaaaa
     1081 cgaaaatcgt gtgtgtttga aaagaagaat gcaacttgta tattttgtat tacctctttt
     1141 tttcaagtga tttaaatagt taatcattta accaaagaag atgtgtagtg ccttaacaag
     1201 caatcctctg tcaaaatctg aggtatttga aaataattat cctcttaacc ttctcttccc
     1261 agtgaacttt atggaacatt taatttagta caattaagta tattataaaa attgtaaaac
     1321 tactactttg ttttagttag aacaaagctc aaaactactt tagttaactt ggtcatctga
     1381 ttttatattg ccttatccaa agatggggaa agtaagtcct gaccaggtgt tcccacatat
     1441 gcctgttaca gataactaca ttaggaattc attcttagct tcttcatctt tgtgtggatg
     1501 tgtatacttt acgcatcttt ccttttgagt agagaaatta tgtgtgtcat gtggtcttct
     1561 gaaaatggaa caccattctt cagagcacac gtctagccct cagcaagaca gttgtttctc
     1621 ctcctccttg catatttcct actgaaatac agtgctgtct atgattgttt ttgttttgtt
     1681 gtttttttga gacggtctcg ctgtgtcaca caggctggag tgcagtggcg tgagctcggc
     1741 tgactgcaaa ctctgcctcc caggtttaag cgattctcct gtcacagctt cccaagtagc
     1801 tgggatttac aggtgtgcac cgccatgcca ggctaatttt tgtgttttta gtagagacag
     1861 ggtttcgcca agttgtccag gctggtcttg aactcctggg ctcaagtgat ccgcccgcct
     1921 cagtctccca aagtgcgagg atgacatgtg tgagctacca caccagcaat gtctatgctt
     1981 ctcgatagct gtgaacatga aaagacatct attgggagtc cgaggcaggt ggattgcttg
     2041 aggccaggag ttagagacca gcctggccaa caaggcaaaa ccccgtctct actaaaaata
     2101 tgaaaattag ctgggcttgg tggctcatgc ctataatcct agctacttgg gaggctgagg
     2161 cacgagactt gcttaatacc tgggaggcgg agattgcagt gagccgagat cacgctactg
     2221 cgctccagcc tgagtgatag agtgagactc tgtctcaaaa aaaagtatct ctaaatacag
     2281 gattataatt tctgcttgag tatggtgtta actaccttgt atttagaaag atttcagatt
     2341 cattccatct ccttagtttt cttttaaggt gacccatctg tgataaaaat atagcttagt
     2401 gctaaaatca gtgtaactta tacatggcct aaaatgtttc tacaaattag agtttgtcac
     2461 ttattccatt tgtacctaag agaaaaatag gctcagttag aaaaggactc cctggccagg
     2521 cgcagtgact tacgcctgta atctcagcac tttgggaggc caaggcaggc agatcacgag
     2581 gtcaggagtt cgagaccatc ctggccaaca tggtgaaacc ccgtctctac taaaaatata
     2641 aaaattagct gggtgtggtg gcaggagcct gtaatcccag ctacacagga ggctgaggca
     2701 cgagaatcac ttgaactcag gagatggagg tttcagtgag ccaagatcac accactgcac
     2761 tccagcctgg caacagagcg agactccatc tcaaaaaaaa aaaaaaaagt aagaaagaaa
     2821 aggactccct tagaatggga aagaaaaatc ataaaatatt gagctgatgc ctgtatatag
     2881 aaattaagcg tttctcgaaa gctgttctat gttttgctgt tattttagtc tttattctct
     2941 tcctttaggt ggagaaacaa agtaccaatt tgaagggatt ttttttattt tgtcttttgg
     3001 tttctgtcag tagaaataac catatgtgct aaccaaattt ctgtgaagaa tgttttcatg
     3061 gttatcatta tatctaacta taacctcccc catagttatg aagagtaacc tgaaatgcca
     3121 ctattgtgga aataggataa ttgtaattgt gaaaaaataa ttttaaggaa atcttacaag
     3181 tattacatta aaaagatact atgactgcca cctgccattt accttctaat aaccctgcca
     3241 tgtggtttgc agaaagagat ggatatagta gcctcagaag aaatatttta tgtgggtttt
     3301 ttgtttttcg ttactagatt tcatggatga ggggatatgg ttgacctttt actttttaat
     3361 ggagcagcca gtttttgtta attactcact tgtaaattgt gagattctga attccttacc
     3421 tgctattctt gtacttgtct caggccaaat ctatgctgtg gttcttatga gacttgtatg
     3481 aagatgccct gatttgtaca gattgaccac gggaatacta ctgccatgta atctgtatag
     3541 ttccagataa tttgtcatga acattgacag aatgacaatt ttttgtattt gctttttctc
     3601 cctttaagag cacattcttc tgtaaggaga aaggcagcat tctggctaaa atgtgtagaa
     3661 ggtaatttac tacacttata aaatagtgtg acttttgtga aaattttgaa ttagctttca
     3721 tatgaagtgc cttaagtaga ctcttcattt acttttctgg taatggttta aatatcattt
     3781 gttatgcatt tttaagatac agttcagaat gacacattgt agtggcaaag ataaccaaat
     3841 gtctggctgt ttgctttttg accatatcaa taaactttta caatctaaat tctgagtttt
     3901 tgattaccat ctaaagagga gtgagtttta aacactaaac tagaattgta aaattaggat
     3961 tttacatttt gaagttataa ttaaattaat ttaaatttca tattgtccta aggacagttt
     4021 gatgggacag tttctttaag tatttctgga ttgggatata ttattctagg aatctataca
     4081 tggtccctca ttcttaatgt tgttacccat taggtgagtc aaaacaacca agatgagtag
     4141 ataaatgact gtttgcaaca attgatctac ctttcgtccc agacagtgaa cattccttga
     4201 ctaggtaatt tccttttgat aataaaaact tgatttgaaa gttaccctgg cagattataa
     4261 gttatatgaa actagacagc agctcttttg caaacatgga gtagaaacac tgcacaggaa
     4321 gtaaagagat ctggctttta gcccttgctc tgtttctgtc taactatatg accataggtg
     4381 tcacctgaac ctctctgaac atatttcttt atactaagta aagtgtatta ggctaaatta
     4441 ccttagtagt ccttcctgct ctattgttct attatgcaaa atattaaaga tgcacttaaa
     4501 tttgaa
//
