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Aliases for MRI1 Gene

Aliases for MRI1 Gene

  • Methylthioribose-1-Phosphate Isomerase 1 2 3 5
  • Mediator Of RhoA-Dependent Invasion 2 3 4
  • Translation Initiation Factor EIF-2B Subunit Alpha/Beta/Delta-Like Protein 3 4
  • S-Methyl-5-Thioribose-1-Phosphate Isomerase 1 2 3
  • MTR-1-P Isomerase 3 4
  • EC 5.3.1.23 4 56
  • M1Pi 3 4
  • MRDI 3 4
  • Methylthioribose-1-Phosphate Isomerase Homolog (S. Cerevisiae) 2
  • Methylthioribose-1-Phosphate Isomerase Homolog 3
  • S-Methyl-5-Thioribose-1-Phosphate Isomerase 4
  • Methylthioribose-1-Phosphate Isomerase 3
  • Ypr118w 3
  • MTNA 3

External Ids for MRI1 Gene

Previous GeneCards Identifiers for MRI1 Gene

  • GC19P013875
  • GC19P013447

Summaries for MRI1 Gene

Entrez Gene Summary for MRI1 Gene

  • 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]

GeneCards Summary for MRI1 Gene

MRI1 (Methylthioribose-1-Phosphate Isomerase 1) is a Protein Coding gene. Diseases associated with MRI1 include Spinal Cord Melanoma and Visual Agnosia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Sulfur amino acid metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and S-methyl-5-thioribose-1-phosphate isomerase activity.

UniProtKB/Swiss-Prot for MRI1 Gene

  • 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.

Gene Wiki entry for MRI1 Gene

Additional gene information for MRI1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRI1 Gene

Genomics for MRI1 Gene

GeneHancer (GH) Regulatory Elements for MRI1 Gene

Promoters and enhancers for MRI1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I013763 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 607.6 +0.5 485 2.4 HDGF FOXA2 ARID4B SIN3A GATA2 SP3 SP5 SSRP1 GMEB1 SMARCA4 MRI1 ENSG00000267633
GH19I014378 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 61 +618.1 618084 7.7 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A FEZF1 YBX1 ZNF2 IRF4 ADGRE5 CCDC130 AKAP8 MRI1 ZNF333 BRD4 DDX39A DCAF15 RFX1 LOC284454
GH19I012781 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.8 -975.2 -975194 16 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 JUNB CCDC130 ZNF136 ZNF44 ZNF791 ZNF564 WDR83OS TRMT1 ZNF700 TRIR
GH19I013115 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.1 -645.6 -645556 7.7 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 TRMT1 NACC1 ZNF791 ZNF136 ZNF442 CCDC130 MRI1 ZNF564 WDR83OS ZNF44
GH19I012983 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 60.8 -779.7 -779690 3.2 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF136 ZNF625 ZNF442 ZNF844 CCDC130 ZNF564 ZNF799 WDR83OS ZNF788 ZNF709
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRI1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRI1 gene promoter:

Genomic Locations for MRI1 Gene

Genomic Locations for MRI1 Gene
chr19:13,764,492-13,774,282
(GRCh38/hg38)
Size:
9,791 bases
Orientation:
Plus strand
chr19:13,875,337-13,885,096
(GRCh37/hg19)

Genomic View for MRI1 Gene

Genes around MRI1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRI1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRI1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRI1 Gene

Proteins for MRI1 Gene

  • Protein details for MRI1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV20-MTNA_HUMAN
    Recommended name:
    Methylthioribose-1-phosphate isomerase
    Protein Accession:
    Q9BV20
    Secondary Accessions:
    • Q8NDC9

    Protein attributes for MRI1 Gene

    Size:
    369 amino acids
    Molecular mass:
    39150 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MRI1 Gene

    Alternative splice isoforms for MRI1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRI1 Gene

Selected DME Specific Peptides for MRI1 Gene

Q9BV20:
  • NTGALAT
  • PAFDVTP
  • LATAGYGTAL
  • GTALGVI
  • YGTALGV
  • NPAFDVT
  • ETRPYNQG
  • LTHCNTG
  • PFYVAAP
  • GYGTALG
  • AVVVGADR
  • NGDTANK
  • GIITELGVFAP
  • VRGAPAI

Post-translational modifications for MRI1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRI1 Gene

Domains & Families for MRI1 Gene

Gene Families for MRI1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MRI1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BV20

UniProtKB/Swiss-Prot:

MTNA_HUMAN :
  • Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.
Family:
  • Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily.
genes like me logo Genes that share domains with MRI1: view

Function for MRI1 Gene

Molecular function for MRI1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-methyl-5-thio-alpha-D-ribose 1-phosphate = S-methyl-5-thio-D-ribulose 1-phosphate.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By RhoA activation in cancer cells (at protein level).

Enzyme Numbers (IUBMB) for MRI1 Gene

Phenotypes From GWAS Catalog for MRI1 Gene

Gene Ontology (GO) - Molecular Function for MRI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016853 isomerase activity IEA --
GO:0042802 identical protein binding IPI 16189514
GO:0046523 S-methyl-5-thioribose-1-phosphate isomerase activity TAS --
genes like me logo Genes that share ontologies with MRI1: view
genes like me logo Genes that share phenotypes with MRI1: view

Animal Model Products

CRISPR Products

miRNA for MRI1 Gene

miRTarBase miRNAs that target MRI1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRI1 Gene

Localization for MRI1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRI1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRI1 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MRI1: view

Pathways & Interactions for MRI1 Gene

genes like me logo Genes that share pathways with MRI1: view

UniProtKB/Swiss-Prot Q9BV20-MTNA_HUMAN

  • 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.

Gene Ontology (GO) - Biological Process for MRI1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0009086 methionine biosynthetic process IEA --
GO:0019509 L-methionine salvage from methylthioadenosine TAS,IBA --
GO:0044237 cellular metabolic process IEA --
GO:0044249 cellular biosynthetic process IEA --
genes like me logo Genes that share ontologies with MRI1: view

No data available for SIGNOR curated interactions for MRI1 Gene

Drugs & Compounds for MRI1 Gene

(2) Additional Compounds for MRI1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Methylthioribose 1-phosphate
  • 1-Phospho-5-S-methylthioribose
  • 1-Phosphomethylthioribose
  • 5-Methylthio-5-deoxy-D-ribose 1-phosphate
  • 5-Methylthio-5-deoxy-D-ribose-1-phosphate
  • 5-Methylthio-D-ribose-1-phosphate
72843-83-5
5-Methylthioribulose 1-phosphate
  • 1-Phospho-5-S-methylthioribulose
  • 1-Phosphomethylthioribulose
  • 1PMT-ribulose
  • 5-Methylthio-2-ribulose-1-phosphate
  • 5-Methylthio-5-deoxy-D-ribulose 1-phosphate
86316-83-8
genes like me logo Genes that share compounds with MRI1: view

Transcripts for MRI1 Gene

Unigene Clusters for MRI1 Gene

Methylthioribose-1-phosphate isomerase homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRI1 Gene

No ASD Table

Relevant External Links for MRI1 Gene

GeneLoc Exon Structure for
MRI1
ECgene alternative splicing isoforms for
MRI1

Expression for MRI1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRI1 Gene

Protein differential expression in normal tissues from HIPED for MRI1 Gene

This gene is overexpressed in Salivary gland (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRI1 Gene



Protein tissue co-expression partners for MRI1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRI1 Gene:

MRI1

SOURCE GeneReport for Unigene cluster for MRI1 Gene:

Hs.439370

Evidence on tissue expression from TISSUES for MRI1 Gene

  • Nervous system(4.5)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with MRI1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRI1 Gene

Orthologs for MRI1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRI1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRI1 33 34
  • 98.64 (n)
dog
(Canis familiaris)
Mammalia MRI1 34 33
  • 89.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRI1 33 34
  • 88.55 (n)
mouse
(Mus musculus)
Mammalia Mri1 33 16 34
  • 83.92 (n)
rat
(Rattus norvegicus)
Mammalia Mri1 33
  • 83.74 (n)
oppossum
(Monodelphis domestica)
Mammalia MRI1 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRI1 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRI1 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mri1 33
  • 66.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15801 33
zebrafish
(Danio rerio)
Actinopterygii mri1 33 34
  • 68.59 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG11334 33 34
  • 61.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001589 33
  • 58.82 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C01G10.9 33
  • 48.63 (n)
C01G10.9 34
  • 41 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR098W 33
  • 55.2 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D15455g 33
  • 50.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRI1 33 34 36
  • 49.61 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G05830 33
  • 55.36 (n)
rice
(Oryza sativa)
Liliopsida Os11g0216900 33
  • 54.13 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.181 33
corn
(Zea mays)
Liliopsida Zm.9981 33
wheat
(Triticum aestivum)
Liliopsida Ta.14479 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02226 33
  • 60.66 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC23E6.10c 33
  • 53.55 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 52 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2138 33
Species where no ortholog for MRI1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MRI1 Gene

ENSEMBL:
Gene Tree for MRI1 (if available)
TreeFam:
Gene Tree for MRI1 (if available)

Paralogs for MRI1 Gene

No data available for Paralogs for MRI1 Gene

Variants for MRI1 Gene

Sequence variations from dbSNP and Humsavar for MRI1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs141094096 likely-pathogenic, Infantile epilepsy, Severe cystic degeneration of the brain 13,768,642(+) G/A 3_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000063474 -- 13,764,464(+) C/T upstream_transcript_variant
rs1000111408 -- 13,769,648(+) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000226332 -- 13,769,453(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000447039 -- 13,767,224(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MRI1 Gene

Variant ID Type Subtype PubMed ID
esv3893166 CNV gain 25118596
nsv833757 CNV loss 17160897

Variation tolerance for MRI1 Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRI1 Gene

Human Gene Mutation Database (HGMD)
MRI1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRI1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRI1 Gene

Disorders for MRI1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MRI1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spinal cord melanoma
  • melanoma of the spinal cord
visual agnosia
  • primary visual agnosia
arachnoiditis
  • spinal arachnoiditis
epidural abscess
  • abscess epidural
vascular hemostatic disease
  • hemostatic disorders
- elite association - COSMIC cancer census association via MalaCards
Search MRI1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRI1

genes like me logo Genes that share disorders with MRI1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRI1 Gene

Publications for MRI1 Gene

  1. A mediator of Rho-dependent invasion moonlights as a methionine salvage enzyme. (PMID: 19620624) Kabuyama Y … Ahn NG (Molecular & cellular proteomics : MCP 2009) 2 3 4 58
  2. 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. (PMID: 23124037) Sunker A … Alkuraya FS (Gene 2013) 2 3 58
  3. Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate isomerase related to regulatory eIF2B subunits. (PMID: 15215245) Bumann M … Baumann U (The Journal of biological chemistry 2004) 2 3 58
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58

Products for MRI1 Gene

Sources for MRI1 Gene

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