Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: MTR (5-methyltetrahydrofolate-homocysteine methyltransferase) Homo sapiens
Analyze
Symbol: MTR
Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
Description: Exhibits methionine synthase activity. Involved in cobalamin metabolic process and methionine biosynthetic process. Localizes to the cytosol. Implicated in several diseases, including IgA glomerulonephritis; autistic disorder; hematologic cancer (multiple); hyperhomocysteinemia; and methylmalonic aciduria and homocystinuria type cblG.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5-methyltetrahydrofolate--homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1; cblG; cobalamin-dependent methionine synthase; FLJ33168; FLJ43216; FLJ45386; HMAG; methionine synthase; MS; vitamin-B12 dependent methionine synthase
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1236,795,292 - 236,921,278 (+)Ensembl
GRCh381236,794,304 - 236,903,981 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371236,958,581 - 237,067,281 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361235,025,341 - 235,130,585 (+)NCBINCBI36hg18NCBI36
Build 341233,284,758 - 233,390,001NCBI
Celera1210,207,757 - 210,316,611 (+)NCBI
Cytogenetic Map1q43NCBI
HuRef1207,414,687 - 207,523,271 (+)NCBIHuRef
CHM1_11238,230,032 - 238,338,720 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on MTR
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731933
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-12-31
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.