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

Gene ID: 84245, updated on 21-Dec-2019

Summary

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
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

Genomic context

See MRI1 in Genome Data Viewer
Location:
19p13.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (13764492..13774282)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (13875328..13885096)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372284 Neighboring gene coiled-coil domain containing 130 Neighboring gene chromosome 19 open reading frame 53 Neighboring gene zinc finger SWIM-type containing 4 Neighboring gene uncharacterized LOC107985334 Neighboring gene RNA, 7SL, cytoplasmic 619, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3207

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001031727.4NP_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
    Q9BV20
    Related
    ENSP00000040663.5, ENST00000040663.8
    Conserved Domains (2) summary
    TIGR00512
    Location:4346
    salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase
    pfam01008
    Location:44346
    IF-2B; Initiation factor 2 subunit family
  2. NM_001329572.2NP_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:4317
    salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase
    pfam01008
    Location:44317
    IF-2B; Initiation factor 2 subunit family
  3. NM_032285.4NP_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:4299
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
    pfam01008
    Location:44299
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    13764492..13774282
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528357.3XP_011526659.1  methylthioribose-1-phosphate isomerase isoform X2

    Conserved Domains (1) summary
    cl00348
    Location:4187
    GCD2; Translation initiation factor 2B subunit, eIF-2B alpha/beta/delta family [Translation, ribosomal structure and biogenesis]
  2. XM_011528356.2XP_011526658.1  methylthioribose-1-phosphate isomerase isoform X1

    Conserved Domains (2) summary
    TIGR00512
    Location:4317
    salvage_mtnA; S-methyl-5-thioribose-1-phosphate isomerase
    pfam01008
    Location:44317
    IF-2B; Initiation factor 2 subunit family

RNA

  1. XR_244089.4 RNA Sequence

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