Human Gene MRI1 (uc002mxe.3)
  Description: Homo sapiens methylthioribose-1-phosphate isomerase 1 (MRI1), transcript variant 1, mRNA.
RefSeq Summary (NM_001031727): 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 (Including UTRs)
   Position: hg19 chr19:13,875,337-13,885,096 Size: 9,760 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr19:13,875,403-13,883,095 Size: 7,693 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:13,875,337-13,885,096)mRNA (may differ from genome)Protein (369 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MTNA_HUMAN
DESCRIPTION: RecName: Full=Methylthioribose-1-phosphate isomerase; Short=M1Pi; Short=MTR-1-P isomerase; EC=5.3.1.23; AltName: Full=Mediator of RhoA-dependent invasion; AltName: Full=S-methyl-5-thioribose-1-phosphate isomerase; AltName: Full=Translation initiation factor eIF-2B subunit alpha/beta/delta-like protein;
FUNCTION: Catalyzes the interconversion of methylthioribose-1- phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1- P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover.
CATALYTIC ACTIVITY: S-methyl-5-thio-alpha-D-ribose 1-phosphate = S-methyl-5-thio-D-ribulose 1-phosphate.
PATHWAY: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 1/6.
INTERACTION: Self; NbExp=3; IntAct=EBI-747381, EBI-747381;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cell projection. Note=Primarily nuclear, but cytoplasmic in cancer cells, with enrichment at leading edge of the plasma membrane in late stage tumor cells.
INDUCTION: By RhoA activation in cancer cells (at protein level).
SIMILARITY: Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MRI1
Diseases sorted by gene-association score: spinal cord melanoma (16), visual agnosia (11), arachnoiditis (9), epidural abscess (7), vascular hemostatic disease (7), discitis (7), epilepsy, familial temporal lobe, 3 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.72 RPKM in Cervix - Endocervix
Total median expression: 498.59 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.2066-0.336 Picture PostScript Text
3' UTR -960.992001-0.480 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000649 - IF-2B-related
IPR005251 - IF-2BI_MTNA
IPR011559 - Initiation_fac_2B_a/b/d

Pfam Domains:
PF01008 - Initiation factor 2 subunit family

SCOP Domains:
100950 - NagB/RpiA/CoA transferase-like

ModBase Predicted Comparative 3D Structure on Q9BV20
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0016853 isomerase activity
GO:0042802 identical protein binding
GO:0046523 S-methyl-5-thioribose-1-phosphate isomerase activity

Biological Process:
GO:0008652 cellular amino acid biosynthetic process
GO:0009086 methionine biosynthetic process
GO:0019509 L-methionine biosynthetic process from methylthioadenosine
GO:0044237 cellular metabolic process
GO:0044249 cellular biosynthetic process

Cellular Component:
GO:0001650 fibrillar center
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  LF384411 - JP 2014500723-A/191914: Polycomb-Associated Non-Coding RNAs.
AL834276 - Homo sapiens mRNA; cDNA DKFZp547E2313 (from clone DKFZp547E2313).
AY358176 - Homo sapiens clone DNA142955 TLEA6390 (UNQ6390) mRNA, complete cds.
BC001703 - Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae), mRNA (cDNA clone MGC:3207 IMAGE:3501899), complete cds.
JD338043 - Sequence 319067 from Patent EP1572962.
EU832423 - Synthetic construct Homo sapiens clone HAIB:100067452; DKFZo004G0128 hypothetical protein MGC3207 protein (MGC3207) gene, encodes complete protein.
EU832338 - Synthetic construct Homo sapiens clone HAIB:100067367; DKFZo008G0127 hypothetical protein MGC3207 protein (MGC3207) gene, encodes complete protein.
AM392616 - Synthetic construct Homo sapiens clone IMAGE:100001976 for hypothetical protein (MGC3207 gene).
AM393224 - Synthetic construct Homo sapiens clone IMAGE:100001969 for hypothetical protein (MGC3207 gene).
AB528180 - Synthetic construct DNA, clone: pF1KE0443, Homo sapiens MRI1 gene for methylthioribose-1-phosphate isomerase homolog, without stop codon, in Flexi system.
HQ448241 - Synthetic construct Homo sapiens clone IMAGE:100071642; CCSB003410_02 hypothetical protein MGC3207 (MGC3207) gene, encodes complete protein.
KJ899767 - Synthetic construct Homo sapiens clone ccsbBroadEn_09161 MRI1 gene, encodes complete protein.
LF373276 - JP 2014500723-A/180779: Polycomb-Associated Non-Coding RNAs.
LF373275 - JP 2014500723-A/180778: Polycomb-Associated Non-Coding RNAs.
LF373273 - JP 2014500723-A/180776: Polycomb-Associated Non-Coding RNAs.
LF373271 - JP 2014500723-A/180774: Polycomb-Associated Non-Coding RNAs.
LF373270 - JP 2014500723-A/180773: Polycomb-Associated Non-Coding RNAs.
LF373269 - JP 2014500723-A/180772: Polycomb-Associated Non-Coding RNAs.
AF318324 - Homo sapiens pp12301 mRNA, complete cds.
JD169844 - Sequence 150868 from Patent EP1572962.
JD338268 - Sequence 319292 from Patent EP1572962.
JD145894 - Sequence 126918 from Patent EP1572962.
JD056446 - Sequence 37470 from Patent EP1572962.
JD103112 - Sequence 84136 from Patent EP1572962.
JD064044 - Sequence 45068 from Patent EP1572962.
JD046542 - Sequence 27566 from Patent EP1572962.
JD247731 - Sequence 228755 from Patent EP1572962.
JD444788 - Sequence 425812 from Patent EP1572962.
JD073055 - Sequence 54079 from Patent EP1572962.
JD443378 - Sequence 424402 from Patent EP1572962.
JD083914 - Sequence 64938 from Patent EP1572962.
JD480059 - Sequence 461083 from Patent EP1572962.
JD212889 - Sequence 193913 from Patent EP1572962.
JD407501 - Sequence 388525 from Patent EP1572962.
JD342273 - Sequence 323297 from Patent EP1572962.
JD505414 - Sequence 486438 from Patent EP1572962.
JD101850 - Sequence 82874 from Patent EP1572962.
JD498254 - Sequence 479278 from Patent EP1572962.
JD498255 - Sequence 479279 from Patent EP1572962.
JD498256 - Sequence 479280 from Patent EP1572962.
JD303334 - Sequence 284358 from Patent EP1572962.
JD187900 - Sequence 168924 from Patent EP1572962.
JD378491 - Sequence 359515 from Patent EP1572962.
JD051175 - Sequence 32199 from Patent EP1572962.
JD178767 - Sequence 159791 from Patent EP1572962.
JD201445 - Sequence 182469 from Patent EP1572962.
JD558804 - Sequence 539828 from Patent EP1572962.
JD245361 - Sequence 226385 from Patent EP1572962.
JD266169 - Sequence 247193 from Patent EP1572962.
JD266172 - Sequence 247196 from Patent EP1572962.
JD371279 - Sequence 352303 from Patent EP1572962.
JD337582 - Sequence 318606 from Patent EP1572962.
JD542917 - Sequence 523941 from Patent EP1572962.
JD213069 - Sequence 194093 from Patent EP1572962.
JD409274 - Sequence 390298 from Patent EP1572962.
JD374527 - Sequence 355551 from Patent EP1572962.
JD489098 - Sequence 470122 from Patent EP1572962.
JD489099 - Sequence 470123 from Patent EP1572962.
JD441054 - Sequence 422078 from Patent EP1572962.
JD112912 - Sequence 93936 from Patent EP1572962.
JD480470 - Sequence 461494 from Patent EP1572962.
JD081643 - Sequence 62667 from Patent EP1572962.
JD081644 - Sequence 62668 from Patent EP1572962.
JD081645 - Sequence 62669 from Patent EP1572962.
JD222396 - Sequence 203420 from Patent EP1572962.
JD107587 - Sequence 88611 from Patent EP1572962.
JD536339 - Sequence 517363 from Patent EP1572962.
MA619988 - JP 2018138019-A/191914: Polycomb-Associated Non-Coding RNAs.
MA608853 - JP 2018138019-A/180779: Polycomb-Associated Non-Coding RNAs.
MA608852 - JP 2018138019-A/180778: Polycomb-Associated Non-Coding RNAs.
MA608850 - JP 2018138019-A/180776: Polycomb-Associated Non-Coding RNAs.
MA608848 - JP 2018138019-A/180774: Polycomb-Associated Non-Coding RNAs.
MA608847 - JP 2018138019-A/180773: Polycomb-Associated Non-Coding RNAs.
MA608846 - JP 2018138019-A/180772: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BV20 (Reactome details) participates in the following event(s):

R-HSA-1237096 Methylthio-ribose-P = Methylthio-ribulose-P
R-HSA-1299507 Methylthio-ribulose-P = Methylthio-ribose-P
R-HSA-1237112 Methionine salvage pathway
R-HSA-351202 Metabolism of polyamines
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: MRDI, MTNA_HUMAN, NM_001031727, NP_001026897, Q8NDC9, Q9BV20, UNQ6390/PRO21135
UCSC ID: uc002mxe.3
RefSeq Accession: NM_001031727
Protein: Q9BV20 (aka MTNA_HUMAN)
CCDS: CCDS32923.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001031727.2
exon count: 6CDS single in 3' UTR: no RNA size: 3177
ORF size: 1110CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2259.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.