U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 84245, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
19p13.13
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13764522..13774282)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (13890747..13900482)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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 (37) 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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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 S-adenosylmethionine IEA
Inferred from Electronic Annotation
more info
  
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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous