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Mtmr1
Gene Detail
Symbol

Name
ID
Mtmr1
myotubularin related protein 1
MGI:1858271
Feature Type
protein coding gene
Genetic Map
Chromosome X
36.75 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:71364760-71419196 bp, + strand
From VEGA annotation of GRCm38

  54437 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2840  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: MTMR1
Gene Tree: Mtmr1

Human
homologs
MTMR1, myotubularin related protein 1
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 8776
neXtProt AC: NX_Q13613

Human Chr (Location): Xq28; chrX:150692983-150765102 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Female mice homozygous and male mice hemizygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior.
 
Interactions
Mtmr1 interacts with 336 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process dephosphorylation, lipid metabolic process, ...
Component cytoplasm, membrane, ...
Function hydrolase activity, phosphatase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (215)    Tissues (180)    Images (59)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
In situ reporter (knock in) 59
RT-PCR 62
cDNA source data(69)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mtmr1 ; ZFIN mtmr1a, mtmr1b    NEW 
Molecular
reagents
All nucleic(73) cDNA(69) Primer pair(4)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000017893 (Evidence)
Ensembl Gene Model ENSMUSG00000015214 (Evidence)
Entrez Gene 53332 (Evidence)
UniGene 219672
DFCI TC1676673, TC1607710, TC1576947
DoTS DT.101149070, DT.101736049, DT.91337738, DT.91573366, DT.99841317, DT.94199152
NIA Mouse Gene Index U019916
EC 3.1.3.64
Consensus CDS Project CCDS30178.1
International Mouse Phenotyping Consortium Status Mtmr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017893 VEGA Gene Model | MGI Sequence Detail 54437 C57BL/6J ±  kb
transcript OTTMUST00000043273 VEGA | MGI Sequence Detail 4640 Not Applicable 
polypeptide OTTMUSP00000019453 VEGA | MGI Sequence Detail 671 Not Applicable 

For the selected sequences
All sequences(96) RefSeq(24) UniProt(11)
Polymorphisms
SNPs within 2kb(269 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004182 GRAM
InterPro IPR010569 Myotubularin-related
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR000387 Protein-tyrosine/Dual specificity phosphatase
InterPro IPR016130 Protein-tyrosine phosphatase, active site
Protein Ontology PR:000010731 myotubularin-related protein 1
References
(Earliest) J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
(Latest) J:204566 Gendrel AV, et al., Epigenetic functions of smchd1 repress gene clusters on the inactive X chromosome and on autosomes. Mol Cell Biol. 2013 Aug;33(16):3150-65
All references(31)
Other
accession IDs
MGI:2147990

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory