LOCUS       NM_001031727            3178 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens methylthioribose-1-phosphate isomerase 1 (MRI1),
            transcript variant 1, mRNA.
ACCESSION   NM_001031727
VERSION     NM_001031727.4
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 3178)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3178)
  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   3  (bases 1 to 3178)
  AUTHORS   Li,H.R., Qiu,B.Q., Gao,J., Jin,C., Jiang,J.H. and Ding,J.Y.
  TITLE     Overexpression of EI2BL promoted human non-small cell lung cancer
            progression by inducing cell EMT phenotype
  JOURNAL   J Clin Pathol 73 (3), 139-146 (2020)
   PUBMED   31586937
  REMARK    GeneRIF: Elevated expression of EI2BL promoted non-small cell lung
            cancer cell proliferation, migration and invasion.
REFERENCE   4  (bases 1 to 3178)
  AUTHORS   Templeton,P.D., Litman,E.S., Metzner,S.I., Ahn,N.G. and Sousa,M.C.
  TITLE     Structure of mediator of RhoA-dependent invasion (MRDI) explains
            its dual function as a metabolic enzyme and a mediator of cell
            invasion
  JOURNAL   Biochemistry 52 (33), 5675-5684 (2013)
   PUBMED   23859498
  REMARK    GeneRIF: Data indicate that the structural elements in MRDI distal
            from the MTR-1-P catalytic site are responsible for the invasion
            phenotype.
REFERENCE   5  (bases 1 to 3178)
  AUTHORS   Sunker,A. and Alkuraya,F.S.
  TITLE     Identification of MRI1, encoding translation initiation factor
            eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus
            for infantile epilepsy with severe cystic degeneration of the brain
  JOURNAL   Gene 512 (2), 450-452 (2013)
   PUBMED   23124037
  REMARK    GeneRIF: Identification of MRI1, encoding translation initiation
            factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate
            locus for infantile epilepsy with severe cystic degeneration of the
            brain.
REFERENCE   6  (bases 1 to 3178)
  AUTHORS   Xin,X., Rual,J.F., Hirozane-Kishikawa,T., Hill,D.E., Vidal,M.,
            Boone,C. and Thierry-Mieg,N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   7  (bases 1 to 3178)
  AUTHORS   Bumann,M., Djafarzadeh,S., Oberholzer,A.E., Bigler,P., Altmann,M.,
            Trachsel,H. and Baumann,U.
  TITLE     Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate
            isomerase related to regulatory eIF2B subunits
  JOURNAL   J Biol Chem 279 (35), 37087-37094 (2004)
   PUBMED   15215245
REFERENCE   8  (bases 1 to 3178)
  AUTHORS   Colland,F., Jacq,X., Trouplin,V., Mougin,C., Groizeleau,C.,
            Hamburger,A., Meil,A., Wojcik,J., Legrain,P. and Gauthier,J.M.
  TITLE     Functional proteomics mapping of a human signaling pathway
  JOURNAL   Genome Res 14 (7), 1324-1332 (2004)
   PUBMED   15231748
REFERENCE   9  (bases 1 to 3178)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 3178)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM147362.1, BC001703.1,
            AC008686.8 and AL834276.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001031727.3.
            
            Summary: This enzyme functions in the methionine salvage pathway by
            catalyzing the interconversion of methylthioribose-1-phosphate and
            methythioribulose-1-phosphate. Elevated expression of the encoded
            protein is associated with metastatic melanoma and this protein
            promotes melanoma cell invasion independent of its enzymatic
            activity. Mutations in this gene may be associated with vanishing
            white matter disease (VMWD). [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR1803613.275889.1,
                                           SRR1803611.271851.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000040663.8/ ENSP00000040663.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                BM147362.1         10-36
            28-1462             BC001703.1         1-1435
            1463-2824           AC008686.8         134600-135961
            2825-3178           AL834276.1         2674-3027
FEATURES             Location/Qualifiers
     source          1..3178
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.13"
     gene            1..3178
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="methylthioribose-1-phosphate isomerase 1"
                     /db_xref="GeneID:84245"
                     /db_xref="HGNC:HGNC:28469"
                     /db_xref="MIM:615105"
     exon            1..199
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1177
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /EC_number="5.3.1.23"
                     /note="isoform 1 is encoded by transcript variant 1;
                     translation initiation factor eIF-2B subunit
                     alpha/beta/delta-like protein; MTR-1-P isomerase;
                     methylthioribose-1-phosphate isomerase homolog;
                     S-methyl-5-thioribose-1-phosphate isomerase 1; mediator of
                     RhoA-dependent invasion"
                     /codon_start=1
                     /product="methylthioribose-1-phosphate isomerase isoform
                     1"
                     /protein_id="NP_001026897.1"
                     /db_xref="CCDS:CCDS32923.1"
                     /db_xref="GeneID:84245"
                     /db_xref="HGNC:HGNC:28469"
                     /db_xref="MIM:615105"
                     /translation="MTLEAIRYSRGSLQILDQLLLPKQSRYEAVGSVHQAWEAIRAMK
                     VRGAPAIALVGCLSLAVELQAGAGGPGLAALVAFVRDKLSFLVTARPTAVNMARAARD
                     LADVAAREAEREGATEEAVRERVICCTEDMLEKDLRDNRSIGDLGARHLLERVAPSGG
                     KVTVLTHCNTGALATAGYGTALGVIRSLHSLGRLEHAFCTETRPYNQGARLTAFELVY
                     EQIPATLITDSMVAAAMAHRGVSAVVVGADRVVANGDTANKVGTYQLAIVAKHHGIPF
                     YVAAPSSSCDLRLETGKEIIIEERPGQELTDVNGVRIAAPGIGVWNPAFDVTPHDLIT
                     GGIITELGVFAPEELRTALTTTISSRDGTLDGPQM"
     exon            200..438
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     exon            439..614
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     exon            615..791
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     exon            792..1016
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..3178
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3154..3159
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="hexamer: AATAAA"
     polyA_site      3178
                     /gene="MRI1"
                     /gene_synonym="M1Pi; MRDI; MTNA; Ypr118w"
                     /note="major polyA site"
ORIGIN      
        1 gccccgctcc caagtgcgcg cggaccccta gctccctctg agttgcgctg ggcttggctg
       61 ctgcaccatg accctggagg cgatccgcta ctcgcggggc tccctgcaga tcctagacca
      121 gctgctgctg cccaagcaga gccgctacga ggcggtgggc tcggtgcacc aggcctggga
      181 ggccatccgc gccatgaagg tgcggggcgc cccggccata gccctggtgg gctgtctcag
      241 cctcgccgtg gagctgcagg cgggcgccgg gggaccggga ctcgccgcgc tcgtggcctt
      301 cgtgcgcgac aagctgagct tcctcgtcac cgcccggccc accgctgtca acatggcccg
      361 cgccgcccgc gacctggctg atgttgcagc ccgggaggcc gaacgggagg gcgctacgga
      421 agaggcggtc cgggagagag tgatctgctg caccgaggac atgctggaga aagacctcag
      481 agacaaccga agcattgggg acctaggagc ccgccacctc ctggagcggg tggcccccag
      541 cggtggcaag gtgactgtgc tgacccactg taacactggt gctctggcca ccgctggcta
      601 tggtacagcc ctaggtgtga ttcgctcact gcacagcctg ggccgcctgg agcatgcctt
      661 ctgcacagag acccggccct acaaccaggg agcccggctg acggcctttg agctggtcta
      721 tgagcagatc cccgccaccc ttatcaccga cagcatggtg gctgctgcca tggcccatag
      781 gggcgtgtca gctgtggtcg tgggagctga ccgcgtggtt gccaacggcg acacagccaa
      841 caaggtgggc acctaccagc tggccattgt cgccaagcac catggcattc ccttctacgt
      901 ggctgccccc agctcttcat gtgacctccg tctggagacc ggcaaggaga tcattattga
      961 agagcgaccg ggccaggagc tgaccgatgt taatggggtc cggattgcag cacctgggat
     1021 tggagtttgg aatcctgcct tcgatgtcac cccccacgac ctcatcactg gtggcatcat
     1081 cacagaactg ggggtctttg cccctgagga gctccggaca gccctaacca ccaccatctc
     1141 ttccagggat ggaaccctag atggacccca gatgtaacca actcagctct ccctagcctg
     1201 cctctctagg tttttcaata catttcttga atggctaccc aaaagctgac cgtccagccc
     1261 ctgaccacac ttgttcctag tgcagggagc tcagacaggg ccttccatct agagcccagc
     1321 acctagagcc aggctgccca gattcaaatc ctgactccgc cacttttccc actgtatgat
     1381 cttgggcaag tcacttcacc tctctgtgcc ttggtttcct catttataaa atgtggataa
     1441 caggccgggc gcagtggctc acacctgtaa tcccagcact ttgggaggcc gaggcaggtg
     1501 gatcacaaga tcaggagatt gagaccatcc tggctaacat ggtgaaaccc catctctact
     1561 aaaaatacaa aaaattagcc gggtgtggtg gtgggcacct gcagtcccag ctacttggga
     1621 ggctgaggca ggagaatggc gtgaaactgg gaggcagagc ttgcagtgag ccgagatagc
     1681 gccactgcac tccagcctgg gcaacagagc gagactccgt ctcaaaaata aatataatta
     1741 attaattatt taattaaaaa aataaaaaat aaatgtggat aatactagta cctccctctt
     1801 aaggtcaggg ctggagctag ggtgacatct ccagggcaga attttaagag gacaccaaaa
     1861 aagctcagca accaagataa aaaatatttt aaagcaatat tttgttttgg gttttttttt
     1921 tttgagatca agtatcactc gttacccagg ctggaatgta gaggcgagat ctcagctcac
     1981 tgaaacctgt gcctccccgg ttcaagcgat tctcctgcca cagcctcctg agtagctggg
     2041 attacaggca tgcgccacca tgcccagcta atttttctat ttttagtaga gacatgattt
     2101 caccatgttg gccaggctgg tctcgaactc ctgactcaaa tgatccccct gcctcagcct
     2161 cccaaagtgc tgggactaca ggcatgagcc actgtgcctg accttacagc agtatttttt
     2221 aaaaatcaaa attaatgcaa aaatccatga tgaggccagg cttggtggct catgcctgta
     2281 attccagcac tttgggagga tcccttgagc ccaggtgttt gagaccagtt tgggtaacat
     2341 aggaagagct tgtctctaca aacaaaaatt taaaaacaat gagctgggca tggaactcac
     2401 acctctagcc ccagctactc aggctgaagt gggaggatgg cttgagccca ggagttcaag
     2461 gatgcagtgt gctttgattg cactactgca cttcacccta agcaacagag tgagacccca
     2521 tctctttaaa aaaaaaaaaa aatccatgat gaacaaaaca agtatttgtt tgagacgggg
     2581 tctcgctctg tcgcccaggc tggagtacag tggtgccatc tcagctcact gcaacctccg
     2641 ccttctgggt tcaagcgact ctcctgcctc agcctcccga gtagctggga ttacaggagc
     2701 ctggcactat gcctggctaa tttttgtatt tttattggag acaccatgtt agtcgtggct
     2761 ggtctccaac tcctgacctc gggtgatccg cgccccgcgg cctccgaaag tgctgggatt
     2821 acaagcgtga gccaccgtgc ccggcctaaa taaaattttg aagaggctag aaccccgcac
     2881 ttgtgccttg agcttactga cctcaacacc ctggttccac taaaacttta tttacaaaat
     2941 tatgctgccg gtctgcagga tgtagtttaa caatttgatt attttggata ttaaaatatt
     3001 ttttaagtct tgaaaatatt gtttactatt accaaagttt ttgaaccttc ttaaattctg
     3061 taccagaggt gagtgccaca ccctaaccta gtctgagttt ttatgtgtaa agatcataaa
     3121 acgttgtaag ttttctaaaa cacataagct ctcaataaac gttagcttat cattgtca
//
