Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Myotubularin-related protein 14 (MTMR14, also known as Jumpy) belongs to the myotubularin family, whose members are dual-specificity phosphatases that act primarily to dephosphorylate phosphoinositides (PIs). They act specifically on PI3P and PI3,5P2, dephosphorylating them to form PIP and PI5P, respectively []. MTMR14 interacts with early autophagosomes and negatively regulates progression through the steps of autophagy []. It has been linked to the a congenital muscle disorder known as myopathy, centronuclear, 1 (CNM1) []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Wen N |
Year: |
2018 |
Journal: |
PLoS One |
Title: |
Deficiency of MTMR14 impairs male fertility in Mus musculus. |
Volume: |
13 |
Issue: |
11 |
Pages: |
e0206224 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li S |
Year: |
2020 |
Journal: |
Biomed Pharmacother |
Title: |
MTMR14 protects against hepatic ischemia-reperfusion injury through interacting with AKT signaling in vivo and in vitro. |
Volume: |
129 |
|
Pages: |
110455 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
142
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Tosch V |
Year: |
2006 |
Journal: |
Hum Mol Genet |
Title: |
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. |
Volume: |
15 |
Issue: |
21 |
Pages: |
3098-106 |
|
•
•
•
•
•
|
Publication |
First Author: |
Vergne I |
Year: |
2009 |
Journal: |
EMBO J |
Title: |
Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy. |
Volume: |
28 |
Issue: |
15 |
Pages: |
2244-58 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
331
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
189
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
140
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
264
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
264
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
648
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
274
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
298
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
119
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Robinson FL |
Year: |
2006 |
Journal: |
Trends Cell Biol |
Title: |
Myotubularin phosphatases: policing 3-phosphoinositides. |
Volume: |
16 |
Issue: |
8 |
Pages: |
403-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang JL |
Year: |
2020 |
Journal: |
Cell Death Dis |
Title: |
Myotubularin-related protein 14 suppresses cardiac hypertrophy by inhibiting Akt. |
Volume: |
11 |
Issue: |
2 |
Pages: |
140 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yin L |
Year: |
2017 |
Journal: |
J Physiol Biochem |
Title: |
Mice lacking myotubularin-related protein 14 show accelerated high-fat diet-induced lipid accumulation and inflammation. |
Volume: |
73 |
Issue: |
1 |
Pages: |
17-28 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
Publication |
First Author: |
Shen J |
Year: |
2009 |
Journal: |
Nat Cell Biol |
Title: |
Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis. |
Volume: |
11 |
Issue: |
6 |
Pages: |
769-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hnia K |
Year: |
2012 |
Journal: |
Adv Biol Regul |
Title: |
Primary T-tubule and autophagy defects in the phosphoinositide phosphatase Jumpy/MTMR14 knockout mice muscle. |
Volume: |
52 |
Issue: |
1 |
Pages: |
98-107 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6444353 |
Assay Type: |
RT-PCR |
Annotation Date: |
2020-07-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1716828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:6446197 |
Age: |
postnatal week 5 |
|
|
Specimen Label: |
wild type control |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:6444353 |
Assay Type: |
RT-PCR |
Annotation Date: |
2020-07-29 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1716828 |
|
Stage: |
TS28 |
Assay Id: |
MGI:6446197 |
Age: |
postnatal week 5 |
|
|
Specimen Label: |
miR-183C |
Detected: |
true |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:1518971 |
Assay Type: |
RNA in situ |
Annotation Date: |
2009-08-25 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1754422 |
Pattern: |
Scattered |
Stage: |
TS22 |
Assay Id: |
MGI:4354967 |
Age: |
embryonic day 14.5 |
|
|
Specimen Label: |
Table S5 - 1110061O0Rik |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lumayag S |
Year: |
2013 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. |
Volume: |
110 |
Issue: |
6 |
Pages: |
E507-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sansom SN |
Year: |
2009 |
Journal: |
PLoS Genet |
Title: |
The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis. |
Volume: |
5 |
Issue: |
6 |
Pages: |
e1000511 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shanghai Model Organisms Center |
Year: |
2017 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
NIH Mouse Knockout Inventory |
Year: |
2004 |
Journal: |
MGI Direct Data Submission |
Title: |
Information obtained from the NIH Mouse Knockout Inventory |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Ko MS |
Year: |
2000 |
Journal: |
Development |
Title: |
Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. |
Volume: |
127 |
Issue: |
8 |
Pages: |
1737-49 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
International Mouse Strain Resource |
Year: |
2014 |
Journal: |
Database Download |
Title: |
MGI download of germline transmission data for alleles from IMSR strain data |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wellcome Trust Sanger Institute |
Year: |
2009 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kawai J |
Year: |
2001 |
Journal: |
Nature |
Title: |
Functional annotation of a full-length mouse cDNA collection. |
Volume: |
409 |
Issue: |
6821 |
Pages: |
685-90 |
|
•
•
•
•
•
|
Publication |
First Author: |
Adams DJ |
Year: |
2024 |
Journal: |
Nature |
Title: |
Genetic determinants of micronucleus formation in vivo. |
Volume: |
627 |
Issue: |
8002 |
Pages: |
130-136 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
GemPharmatech |
Year: |
2020 |
|
Title: |
GemPharmatech Website. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Skarnes WC |
Year: |
2011 |
Journal: |
Nature |
Title: |
A conditional knockout resource for the genome-wide study of mouse gene function. |
Volume: |
474 |
Issue: |
7351 |
Pages: |
337-42 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI) |
Year: |
2008 |
Journal: |
Database Download |
Title: |
Mouse Gene Trap Data Load from dbGSS |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
GOA curators |
Year: |
2016 |
|
Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Jackson Laboratory Mouse Radiation Hybrid Database |
Year: |
2004 |
Journal: |
Database Release |
Title: |
Mouse T31 Radiation Hybrid Data Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Okazaki Y |
Year: |
2002 |
Journal: |
Nature |
Title: |
Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. |
Volume: |
420 |
Issue: |
6915 |
Pages: |
563-73 |
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2010 |
|
Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2). |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
MGI Genome Annotation Group and UniGene Staff |
Year: |
2015 |
Journal: |
Database Download |
Title: |
MGI-UniGene Interconnection Effort |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
Year: |
2010 |
|
Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
Year: |
2010 |
Journal: |
Database Download |
Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
|
Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
|
|
|
|
•
•
•
•
•
|
Allele |
Name: |
myotubularin related protein 14; endonuclease-mediated mutation 2, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Allele |
Name: |
myotubularin related protein 14; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Conditional ready, No functional change |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Myotubularin-related protein 14 (MTMR14, also known as Jumpy) belongs to the myotubularin family, whose members are dual-specificity phosphatases that act primarily to dephosphorylate phosphoinositides (PIs). They act specifically on PI3P and PI3,5P2, dephosphorylating them to form PIP and PI5P, respectively []. MTMR14 interacts with early autophagosomes and negatively regulates progression through the steps of autophagy []. It has been linked to the a congenital muscle disorder known as myopathy, centronuclear, 1 (CNM1) [].MTMR14 contain a N-terminal PH-GRAM domain, a Rac-induced recruitment domain (RID) domain, an active PTP domain, a SET-interaction domain (SID), a coiled-coil region, and a C-terminal PDZ domain. This entry represents the PH-GRAM domain that binds to phosphoinositide lipid []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Doerks T |
Year: |
2000 |
Journal: |
Trends Biochem Sci |
Title: |
GRAM, a novel domain in glucosyltransferases, myotubularins and other putative membrane-associated proteins. |
Volume: |
25 |
Issue: |
10 |
Pages: |
483-5 |
|
•
•
•
•
•
|