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    MRI1 methylthioribose-1-phosphate isomerase 1 [ Homo sapiens (human) ]

    Gene ID: 84245, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MRI1provided by HGNC
    Official Full Name
    methylthioribose-1-phosphate isomerase 1provided by HGNC
    Primary source
    HGNC:HGNC:28469
    See related
    Ensembl:ENSG00000037757 MIM:615105; AllianceGenome:HGNC:28469
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    M1Pi; MRDI; MTNA; Ypr118w
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 6.8), skin (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRI1 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13764522..13774282)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13890747..13900482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13875336..13885096)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372284 Neighboring gene MPRA-validated peak3373 silencer Neighboring gene MPRA-validated peak3374 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14133 Neighboring gene YJU2 splicing factor homolog B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10207 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:13873547-13874063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13876533-13877162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13885277-13885806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:13885807-13886335 Neighboring gene chromosome 19 open reading frame 53 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13896673-13897634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14137 Neighboring gene zinc finger SWIM-type containing 4 Neighboring gene uncharacterized LOC107985334 Neighboring gene MPRA-validated peak3376 silencer Neighboring gene RNA, 7SL, cytoplasmic 619, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Overexpression of EI2BL promoted human non-small cell lung cancer progression by inducing cell EMT phenotype. Li HR, et al. J Clin Pathol, 2020 Mar. PMID 31586937
    2. Structure of mediator of RhoA-dependent invasion (MRDI) explains its dual function as a metabolic enzyme and a mediator of cell invasion. Templeton PD, et al. Biochemistry, 2013 Aug 20. PMID 23859498, Free PMC Article
    3. 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. Sunker A, et al. Gene, 2013 Jan 10. PMID 23124037
    4. A mediator of Rho-dependent invasion moonlights as a methionine salvage enzyme. Kabuyama Y, et al. Mol Cell Proteomics, 2009 Oct. PMID 19620624, Free PMC Article
    5. Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate isomerase related to regulatory eIF2B subunits. Bumann M, et al. J Biol Chem, 2004 Aug 27. PMID 15215245

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated expression of EI2BL promoted non-small cell lung cancer cell proliferation, migration and invasion.
      Title: Overexpression of EI2BL promoted human non-small cell lung cancer progression by inducing cell EMT phenotype.
    2. Data indicate that the structural elements in MRDI distal from the MTR-1-P catalytic site are responsible for the invasion phenotype.
      Title: Structure of mediator of RhoA-dependent invasion (MRDI) explains its dual function as a metabolic enzyme and a mediator of cell invasion.
    3. 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.
      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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-methyl-5-thioribose-1-phosphate isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables S-methyl-5-thioribose-1-phosphate isomerase activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-methionine salvage from methylthioadenosine IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-methionine salvage from methylthioadenosine TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    methylthioribose-1-phosphate isomerase
    Names
    MTR-1-P isomerase
    S-methyl-5-thioribose-1-phosphate isomerase 1
    mediator of RhoA-dependent invasion
    methylthioribose-1-phosphate isomerase homolog
    translation initiation factor eIF-2B subunit alpha/beta/delta-like protein
    NP_001026897.1
    NP_001316501.1
    NP_115661.1
    XP_011526658.1
    XP_011526659.1
    XP_047295465.1
    XP_054178306.1
    XP_054178307.1
    XP_054178308.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051243.1 RefSeqGene

      Range
      5031..14791
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001031727.4 → NP_001026897.1  methylthioribose-1-phosphate isomerase isoform 1

      See identical proteins and their annotated locations for NP_001026897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC008686, AL834276, BC001703, BM147362
      Consensus CDS
      CCDS32923.1
      UniProtKB/Swiss-Prot
      Q8NDC9, Q9BV20
      Related
      ENSP00000040663.5, ENST00000040663.8
      Conserved Domains (1) summary
      TIGR00512
      Location:4 → 346
      salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase

    2. NM_001329572.2 → NP_001316501.1  methylthioribose-1-phosphate isomerase isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' coding region compared to variant 1. The resulting protein (isoform 3) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC008686, AL834276
      UniProtKB/Swiss-Prot
      Q9BV20
      Conserved Domains (2) summary
      TIGR00512
      Location:4 → 317
      salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase
      pfam01008
      Location:44 → 317
      IF-2B; Initiation factor 2 subunit family

    3. NM_032285.4 → NP_115661.1  methylthioribose-1-phosphate isomerase isoform 2

      See identical proteins and their annotated locations for NP_115661.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC008686, AL834276, BM147362
      Consensus CDS
      CCDS12297.1
      UniProtKB/Swiss-Prot
      Q9BV20
      Related
      ENSP00000314871.7, ENST00000319545.12
      Conserved Domains (2) summary
      cl00348
      Location:4 → 299
      GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
      pfam01008
      Location:44 → 299
      IF-2B; Initiation factor 2 subunit family

    RNA

    1. NR_138051.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon and uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC008686, AL834276

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13764522..13774282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011528356.3 → XP_011526658.1  methylthioribose-1-phosphate isomerase isoform X1

      Conserved Domains (2) summary
      TIGR00512
      Location:4 → 317
      salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase
      pfam01008
      Location:44 → 317
      IF-2B; Initiation factor 2 subunit family

    2. XM_011528357.4 → XP_011526659.1  methylthioribose-1-phosphate isomerase isoform X2

      Conserved Domains (1) summary
      cl00348
      Location:4 → 187
      GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]

    3. XM_047439509.1 → XP_047295465.1  methylthioribose-1-phosphate isomerase isoform X3

    RNA

    1. XR_244089.5 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      13890747..13900482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322331.1 → XP_054178306.1  methylthioribose-1-phosphate isomerase isoform X1

    2. XM_054322332.1 → XP_054178307.1  methylthioribose-1-phosphate isomerase isoform X2

    3. XM_054322333.1 → XP_054178308.1  methylthioribose-1-phosphate isomerase isoform X3

    RNA

    1. XR_008485209.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV20.1 GenPept UniProtKB/Swiss-Prot:Q9BV20

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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