Mtmr1 myotubularin related protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mtmr1provided by MGI
Official Full Name: myotubularin related protein 1provided by MGI
Primary source: MGI:MGI:1858271
See related: Ensembl:ENSMUSG00000015214 AllianceGenome:MGI:1858271
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables phosphatidylinositol-3-phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation and regulation of phosphatidylinositol dephosphorylation. Predicted to act upstream of or within lipid metabolic process. Located in cytoplasm and plasma membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Orthologous to human MTMR1 (myotubularin related protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 7.3), frontal lobe adult (RPKM 4.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 36.75 cM

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (70408332..70462802)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (71364760..71419196)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF073997 (e-PCR)
- UniSTS:163620

DXMit25 (e-PCR), detects polymorphism
- UniSTS:132133

Mtmr1 (e-PCR), detects polymorphism
- UniSTS:496010

Mtmr1 (e-PCR), detects polymorphism
- UniSTS:256399

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol phosphate phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate phosphatase activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of phosphatidylinositol dephosphorylation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: myotubularin-related protein 1

Names: phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase

NP_001300631.1

EC 3.1.3.64

EC 3.1.3.95

NP_001300632.1

EC 3.1.3.64

EC 3.1.3.95

NP_001300633.1

EC 3.1.3.64

EC 3.1.3.95

NP_001300635.1

EC 3.1.3.64

EC 3.1.3.95

NP_001300636.1

EC 3.1.3.64

EC 3.1.3.95

NP_058681.1

EC 3.1.3.64

EC 3.1.3.95

XP_006528199.1

EC 3.1.3.64

EC 3.1.3.95

XP_006528200.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017901.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017902.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017903.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017904.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017905.1

EC 3.1.3.64

EC 3.1.3.95

XP_036017906.1

EC 3.1.3.64

EC 3.1.3.95

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001313702.2 → NP_001300631.1 myotubularin-related protein 1 isoform D

Status: VALIDATED

Description

Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (D).

Source sequence(s)

AL772294

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:145 → 244

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:251 → 586

Myotub-related; Myotubularin-like phosphatase domain
NM_001313703.2 → NP_001300632.1 myotubularin-related protein 1 isoform B

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks two in-frame exons compared to variant 4. The resulting isoform (B) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AL772294

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:119 → 218

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:225 → 560

Myotub-related; Myotubularin-like phosphatase domain
NM_001313704.2 → NP_001300633.1 myotubularin-related protein 1 isoform C

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 4. The resulting isoform (C) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AL772294

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:128 → 227

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:234 → 569

Myotub-related; Myotubularin-like phosphatase domain
NM_001313706.2 → NP_001300635.1 myotubularin-related protein 1 isoform E

Status: VALIDATED

Description

Transcript Variant: This variant (5) lacks two in-frame exons compared to variant 4. The resulting isoform (E) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AL772294

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:128 → 227

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:234 → 569

Myotub-related; Myotubularin-like phosphatase domain
NM_001313707.2 → NP_001300636.1 myotubularin-related protein 1 isoform F

Status: VALIDATED

Description

Transcript Variant: This variant (6) lacks an in-frame exon compared to variant 4. The resulting isoform (F) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AL772294

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:136 → 235

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:242 → 577

Myotub-related; Myotubularin-like phosphatase domain
NM_016985.3 → NP_058681.1 myotubularin-related protein 1 isoform A

See identical proteins and their annotated locations for NP_058681.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) lacks three in-frame exons compared to variant 4. The resulting isoform (A) has the same N- and C-termini but is shorter compared to isoform D.

Source sequence(s)

AL772294

Consensus CDS

CCDS30178.1

UniProtKB/Swiss-Prot

Q9Z2C4

UniProtKB/TrEMBL

I7HJQ9

Related

ENSMUSP00000015358.2, ENSMUST00000015358.8

Conserved Domains (2) summary

cd13358
Location:111 → 210

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:217 → 552

Myotub-related; Myotubularin-like phosphatase domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

70408332..70462802

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162009.1 → XP_036017902.1 myotubularin-related protein 1 isoform X2

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:137 → 236

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:253 → 579

Myotub-related; Myotubularin-like phosphatase domain
XM_036162010.1 → XP_036017903.1 myotubularin-related protein 1 isoform X3

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:129 → 228

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:245 → 571

Myotub-related; Myotubularin-like phosphatase domain
XM_036162013.1 → XP_036017906.1 myotubularin-related protein 1 isoform X6

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:111 → 210

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14592
Location:244 → 488

PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
XM_036162008.1 → XP_036017901.1 myotubularin-related protein 1 isoform X1

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:146 → 245

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:262 → 588

Myotub-related; Myotubularin-like phosphatase domain
XM_036162011.1 → XP_036017904.1 myotubularin-related protein 1 isoform X4

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:146 → 245

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14592
Location:279 → 523

PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
XM_036162012.1 → XP_036017905.1 myotubularin-related protein 1 isoform X5

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:128 → 227

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14592
Location:261 → 505

PTP-MTMR1; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 1
XM_006528137.5 → XP_006528200.1 myotubularin-related protein 1 isoform X7

See identical proteins and their annotated locations for XP_006528200.1

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:13 → 112

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:119 → 455

Myotub-related; Myotubularin-like phosphatase domain
XM_006528136.5 → XP_006528199.1 myotubularin-related protein 1 isoform X7

See identical proteins and their annotated locations for XP_006528199.1

UniProtKB/TrEMBL

I7HJQ9

Conserved Domains (2) summary

cd13358
Location:13 → 112

PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:119 → 455

Myotub-related; Myotubularin-like phosphatase domain