MTMR1 myotubularin related protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTMR1provided by HGNC
Official Full Name: myotubularin related protein 1provided by HGNC
Primary source: HGNC:HGNC:7449
See related: Ensembl:ENSG00000063601 MIM:300171; AllianceGenome:HGNC:7449
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
Summary: This gene encodes a member of the myotubularin related family of proteins. Members of this family contain the consensus sequence for the active site of protein tyrosine phosphatases. Alternatively spliced variants have been described but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 7.5), skin (RPKM 6.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq28

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (150692962..150765108)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (148960611..149032751)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (149861435..149933581)

Chromosome X - NC_000023.11 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

an aberrant MTMR1 expression and signs of altered myofiber maturation were documented in both DM1 and in DM2 muscle tissues.
Title: Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
Altered splicing of MTMR1 RNA in the pathological context of congenital myotonic dystrophy
Title: Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.
REVIEW : MTMR1 belongs to the myotubularin family of phosphoinositides phosphatases
Title: Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DXS7445E (e-PCR)
- UniSTS:51485

DXS1281 (e-PCR)
- UniSTS:99113

RH68511 (e-PCR)
- UniSTS:16467

A005E38 (e-PCR)
- UniSTS:7006

RH98480 (e-PCR)
- UniSTS:85956

DXS7026E (e-PCR)
- UniSTS:33268

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS Traceable Author Statement 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	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3-phosphate phosphatase activity	TAS Traceable Author Statement more info
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in phosphatidylinositol biosynthetic process	TAS Traceable Author Statement more info
involved_in phosphatidylinositol dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of phosphatidylinositol dephosphorylation	IDA Inferred from Direct Assay more info	PubMed

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	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

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_001293073.1

EC 3.1.3.64

EC 3.1.3.95

NP_001293074.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340919.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340920.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340921.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340922.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340923.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340924.1

EC 3.1.3.64

EC 3.1.3.95

NP_001340925.1

EC 3.1.3.64

EC 3.1.3.95

NP_003819.1

EC 3.1.3.64

EC 3.1.3.95

XP_005274822.1

EC 3.1.3.64

EC 3.1.3.95

XP_005274823.1

EC 3.1.3.64

EC 3.1.3.95

XP_006724918.1

EC 3.1.3.64

EC 3.1.3.95

XP_011529512.1

EC 3.1.3.64

EC 3.1.3.95

XP_016885410.1

EC 3.1.3.64

EC 3.1.3.95

XP_016885412.1

EC 3.1.3.64

EC 3.1.3.95

XP_016885413.1

EC 3.1.3.64

EC 3.1.3.95

XP_047298560.1

EC 3.1.3.64

EC 3.1.3.95

XP_047298561.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184014.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184015.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184016.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184017.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184018.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184019.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184020.1

EC 3.1.3.64

EC 3.1.3.95

XP_054184021.1

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.

Genomic

NG_012551.2 RefSeqGene

Range

5436..77148

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001306144.3 → NP_001293073.1 myotubularin-related protein 1 isoform 1

See identical proteins and their annotated locations for NP_001293073.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AF002223

Consensus CDS

CCDS78512.1

UniProtKB/TrEMBL

F8WA39

Related

ENSP00000414178.2, ENST00000445323.7

Conserved Domains (2) summary

cd13358
Location:115 → 214

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

pfam06602
Location:221 → 556

Myotub-related; Myotubularin-like phosphatase domain
NM_001306145.2 → NP_001293074.1 myotubularin-related protein 1 isoform 3

See identical proteins and their annotated locations for NP_001293074.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region, lacks multiple 3' coding exons and contains an alternate 3' terminal exon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AF002223, AK023451, BC032947

Consensus CDS

CCDS78513.1

UniProtKB/TrEMBL

Q8NEC6

Related

ENSP00000445281.1, ENST00000542156.5

Conserved Domains (2) summary

cd13358
Location:107 → 206

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

cl21483
Location:213 → 352

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
NM_001353990.2 → NP_001340919.1 myotubularin-related protein 1 isoform 4

Status: REVIEWED

Description

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

Source sequence(s)

AF002223

Consensus CDS

CCDS94687.1

UniProtKB/TrEMBL

E9PPP8

Related

ENSP00000436957.2, ENST00000490316.7

Conserved Domains (2) summary

cd13358
Location:124 → 223

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

pfam06602
Location:246 → 566

Myotub-related; Myotubularin-like phosphatase domain
NM_001353991.1 → NP_001340920.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 6-10, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_001353992.1 → NP_001340921.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 5 and 7-10, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_001353993.1 → NP_001340922.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variants 5, 6, and 8-10, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_001353994.1 → NP_001340923.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 5-7, 9, and 10, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_001353995.1 → NP_001340924.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 5-8 and 10, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_001353996.1 → NP_001340925.1 myotubularin-related protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (10), as well as variants 5-9, encodes isoform 5.

Source sequence(s)

AF002223

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
NM_003828.5 → NP_003819.1 myotubularin-related protein 1 isoform 2

See identical proteins and their annotated locations for NP_003819.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and has an alternate splice structure in the 3' UTR, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AF057354, AJ224979, AK226109, BC032947

Consensus CDS

CCDS14695.1

UniProtKB/Swiss-Prot

A0A024RC07, Q13613, Q9UBX6, Q9UEM0, Q9UQD5

Related

ENSP00000359417.3, ENST00000370390.7

Conserved Domains (2) summary

cd13358
Location:107 → 206

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

pfam06602
Location:213 → 548

Myotub-related; Myotubularin-like phosphatase domain

RNA

NR_148676.3 RNA Sequence

Status: REVIEWED

Source sequence(s)

AF002223

Related

ENST00000485376.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

150692962..150765108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005274765.4 → XP_005274822.1 myotubularin-related protein 1 isoform X1

Conserved Domains (2) summary

cd13358
Location:141 → 240

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

pfam06602
Location:247 → 582

Myotub-related; Myotubularin-like phosphatase domain
XM_005274766.4 → XP_005274823.1 myotubularin-related protein 1 isoform X2

Conserved Domains (2) summary

cd13358
Location:124 → 223

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

pfam06602
Location:230 → 565

Myotub-related; Myotubularin-like phosphatase domain
XM_006724855.4 → XP_006724918.1 myotubularin-related protein 1 isoform X3

See identical proteins and their annotated locations for XP_006724918.1

UniProtKB/Swiss-Prot

A0A024RC07, Q13613, Q9UBX6, Q9UEM0, Q9UQD5

Conserved Domains (2) summary

cd13358
Location:107 → 206

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

pfam06602
Location:213 → 548

Myotub-related; Myotubularin-like phosphatase domain
XM_047442604.1 → XP_047298560.1 myotubularin-related protein 1 isoform X4
XM_011531210.3 → XP_011529512.1 myotubularin-related protein 1 isoform X7

Conserved Domains (2) summary

cd13358
Location:141 → 240

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

cl21483
Location:247 → 386

PTPc; Protein tyrosine phosphatases (PTP) catalyze the dephosphorylation of phosphotyrosine peptides; they regulate phosphotyrosine levels in signal transduction pathways. The depth of the active site cleft renders the enzyme specific for phosphorylated Tyr ...
XM_017029924.2 → XP_016885413.1 myotubularin-related protein 1 isoform X8
XM_047442605.1 → XP_047298561.1 myotubularin-related protein 1 isoform X5

UniProtKB/TrEMBL

B7Z3D5
XM_017029921.2 → XP_016885410.1 myotubularin-related protein 1 isoform X5

UniProtKB/TrEMBL

B7Z3D5

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:135 → 455

Myotub-related; Myotubularin-like phosphatase domain
XM_017029923.2 → XP_016885412.1 myotubularin-related protein 1 isoform X6

RNA

XR_007068204.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

148960611..149032751

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328039.1 → XP_054184014.1 myotubularin-related protein 1 isoform X1
XM_054328040.1 → XP_054184015.1 myotubularin-related protein 1 isoform X2
XM_054328041.1 → XP_054184016.1 myotubularin-related protein 1 isoform X3

UniProtKB/Swiss-Prot

A0A024RC07, Q13613, Q9UBX6, Q9UEM0, Q9UQD5
XM_054328042.1 → XP_054184017.1 myotubularin-related protein 1 isoform X4
XM_054328045.1 → XP_054184020.1 myotubularin-related protein 1 isoform X7
XM_054328046.1 → XP_054184021.1 myotubularin-related protein 1 isoform X8
XM_054328043.1 → XP_054184018.1 myotubularin-related protein 1 isoform X5

UniProtKB/TrEMBL

B7Z3D5
XM_054328044.1 → XP_054184019.1 myotubularin-related protein 1 isoform X6

RNA

XR_008485513.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_176789.1: Suppressed sequence

Description

NM_176789.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.