MTMR6 myotubularin related protein 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTMR6provided by HGNC
Official Full Name: myotubularin related protein 6provided by HGNC
Primary source: HGNC:HGNC:7453
See related: Ensembl:ENSG00000139505 MIM:603561; AllianceGenome:HGNC:7453
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables phosphatidylinositol-3,5-bisphosphate phosphatase activity and phosphatidylinositol-3-phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Located in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.13

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (25246222..25287488, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (24455889..24497172, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (25820360..25861626, complement)

Chromosome 13 - NC_000013.11 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?

Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase.
Title: Myotubularin-related protein 6 is an ion channel-associated pro-leishmanial phosphatase.
rescue experiments using MTMR6 overexpression further verified that MTMR6 was a functional target of miR-506-3p. Our data indicate that miR-506-3p might serve as a tumor suppressor gene and propose a new regulatory mechanism of MTMR6 by miR-506-3p in ovarian cancer .
Title: MiR-506-3p suppresses the proliferation of ovarian cancer cells by negatively regulating the expression of MTMR6.
MTMR6, which dephosphorylates PI(3)P to PI, and its binding partner MTMR9, are required for macropinocytosis.
Title: Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis.
results indicate that the cellular localization of MTMR6 is regulated by Rab1B in the early secretory and autophagic pathways
Title: Phosphatidylinositol 3-phosphatase myotubularin-related protein 6 (MTMR6) is regulated by small GTPase Rab1B in the early secretory and autophagic pathways.
MTMR9 greatly enhances the functions of MTMR6
Title: MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis.
Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
Title: Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
investigation of MTM1 and MTMR6 and finding that they use PtdIns(3,5)P2 in addition to PtdIns3P as a substrate in vitro
Title: Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases.
Data show that KCa3.1, which is critical for Ca2+ influx in reactivated naive T cells and central memory T cells, requires phosphatidylinositol-3 phosphatase for activation and is inhibited by PI(3)P phosphatase myotubularin-related protein 6 (MTMR6).
Title: Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells.

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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

A007G03 (e-PCR)
- UniSTS:56899

RH11246 (e-PCR)
- UniSTS:78255

D13S1453 (e-PCR)
- UniSTS:20423

D13S824E (e-PCR)
- UniSTS:151501

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS Traceable Author Statement more info
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3,5-bisphosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
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	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein tyrosine phosphatase activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	IEA Inferred from Electronic Annotation more info
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 protein dephosphorylation	NAS Non-traceable Author Statement 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 cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum-Golgi intermediate compartment	IEA Inferred from Electronic Annotation more info
is_active_in nuclear envelope	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: myotubularin-related protein 6

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

NP_001372159.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372160.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372161.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372162.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372163.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372164.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372165.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372166.1

EC 3.1.3.64

EC 3.1.3.95

NP_001372167.1

EC 3.1.3.64

EC 3.1.3.95

NP_004676.3

EC 3.1.3.64

EC 3.1.3.95

XP_011533609.1

EC 3.1.3.64

EC 3.1.3.95

XP_016876335.1

EC 3.1.3.64

EC 3.1.3.95

XP_047286722.1

EC 3.1.3.64

EC 3.1.3.95

XP_054231142.1

EC 3.1.3.64

EC 3.1.3.95

XP_054231143.1

EC 3.1.3.64

EC 3.1.3.95

XP_054231144.1

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_001385230.1 → NP_001372159.1 myotubularin-related protein 6 isoform 2

Status: VALIDATED

Source sequence(s)

AL590787

UniProtKB/TrEMBL

A0A9L9PXJ0

Related

ENSP00000516657.1, ENST00000482345.2

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 469

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385231.1 → NP_001372160.1 myotubularin-related protein 6 isoform 3

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14585
Location:112 → 413

PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6
NM_001385232.1 → NP_001372161.1 myotubularin-related protein 6 isoform 4

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 389

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385233.1 → NP_001372162.1 myotubularin-related protein 6 isoform 5

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 388

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385234.1 → NP_001372163.1 myotubularin-related protein 6 isoform 6

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 386

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385235.1 → NP_001372164.1 myotubularin-related protein 6 isoform 7

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 366

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385236.1 → NP_001372165.1 myotubularin-related protein 6 isoform 8

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cd14585
Location:130 → 431

PTP-MTMR6; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 6
NM_001385237.1 → NP_001372166.1 myotubularin-related protein 6 isoform 9

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

cl28904
Location:130 → 386

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_001385238.1 → NP_001372167.1 myotubularin-related protein 6 isoform 10

Status: VALIDATED

Source sequence(s)

AL590787

Conserved Domains (1) summary

cl28904
Location:1 → 295

PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
NM_004685.5 → NP_004676.3 myotubularin-related protein 6 isoform 1

See identical proteins and their annotated locations for NP_004676.3

Status: VALIDATED

Source sequence(s)

AL590787

Consensus CDS

CCDS9313.1

UniProtKB/Swiss-Prot

B2RBB5, B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80, Q9Y217

Related

ENSP00000371221.5, ENST00000381801.6

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:107 → 444

Myotub-related; Myotubularin-like phosphatase domain

RNA

NR_169592.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AL590787

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

25246222..25287488 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535307.2 → XP_011533609.1 myotubularin-related protein 6 isoform X1

Conserved Domains (2) summary

cd13343
Location:1 → 101

PH-GRAM_MTMR6; Myotubularian (MTM) related (MTMR) 6 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

pfam06602
Location:107 → 482

Myotub-related; Myotubularin-like phosphatase domain
XM_017020846.2 → XP_016876335.1 myotubularin-related protein 6 isoform X2
XM_047430766.1 → XP_047286722.1 myotubularin-related protein 6 isoform X3