MTMR1 (myotubularin related protein 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8776
• Gene name: Myotubularin related protein 1
• Gene symbol: MTMR1
• Synonyms (NCBI Gene): -
• Chromosome: X
• Chromosome location: Xq28
• 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

miRNA Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044287	hsa-miR-106b-5p	CLASH	23622248
MIRT716295	hsa-miR-3943	HITS-CLIP	19536157
MIRT716294	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT716293	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT716292	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT716291	hsa-miR-6084	HITS-CLIP	19536157
MIRT526679	hsa-miR-4694-3p	PAR-CLIP	22012620
MIRT526678	hsa-miR-4434	PAR-CLIP	22012620
MIRT526677	hsa-miR-4516	PAR-CLIP	22012620
MIRT526675	hsa-miR-5703	PAR-CLIP	22012620
MIRT526676	hsa-miR-4531	PAR-CLIP	22012620
MIRT526674	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT727141	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT727139	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT727138	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT716295	hsa-miR-3943	HITS-CLIP	19536157
MIRT716294	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT716293	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT716292	hsa-miR-1225-3p	HITS-CLIP	19536157
MIRT716291	hsa-miR-6084	HITS-CLIP	19536157
MIRT526679	hsa-miR-4694-3p	PAR-CLIP	22012620
MIRT526678	hsa-miR-4434	PAR-CLIP	22012620
MIRT526677	hsa-miR-4516	PAR-CLIP	22012620
MIRT526675	hsa-miR-5703	PAR-CLIP	22012620
MIRT526676	hsa-miR-4531	PAR-CLIP	22012620
MIRT526674	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT1163887	hsa-miR-1182	CLIP-seq
MIRT1163888	hsa-miR-3660	CLIP-seq
MIRT1163889	hsa-miR-370	CLIP-seq
MIRT1163890	hsa-miR-4526	CLIP-seq
MIRT1163891	hsa-miR-628-5p	CLIP-seq
MIRT1920661	hsa-miR-499-3p	CLIP-seq
MIRT1920662	hsa-miR-499a-3p	CLIP-seq
MIRT1920663	hsa-miR-656	CLIP-seq
MIRT2047153	hsa-miR-218	CLIP-seq
MIRT2047154	hsa-miR-636	CLIP-seq
MIRT2276179	hsa-miR-132	CLIP-seq
MIRT2276180	hsa-miR-1910	CLIP-seq
MIRT2276181	hsa-miR-212	CLIP-seq
MIRT2276182	hsa-miR-3157-5p	CLIP-seq
MIRT2276183	hsa-miR-3910	CLIP-seq
MIRT2276184	hsa-miR-4307	CLIP-seq
MIRT2276185	hsa-miR-4450	CLIP-seq
MIRT2276186	hsa-miR-455-3p	CLIP-seq
MIRT2276187	hsa-miR-4691-3p	CLIP-seq
MIRT2276179	hsa-miR-132	CLIP-seq
MIRT2276180	hsa-miR-1910	CLIP-seq
MIRT2276181	hsa-miR-212	CLIP-seq
MIRT2276182	hsa-miR-3157-5p	CLIP-seq
MIRT2276185	hsa-miR-4450	CLIP-seq
MIRT2276187	hsa-miR-4691-3p	CLIP-seq
MIRT2454566	hsa-miR-302f	CLIP-seq

Gene ontology (GO) Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IBA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IDA	11733541, 27018598
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	IEA
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	ISS
GO:0004438	Function	Phosphatidylinositol-3-phosphate phosphatase activity	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	16787938
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	IEA
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031648	Process	Protein destabilization	IMP	33053349
GO:0042803	Function	Protein homodimerization activity	IPI	27018598
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IBA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IDA	11733541, 27018598
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IDA	27018598
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IEA
GO:0052629	Function	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	TAS
GO:0052866	Function	Phosphatidylinositol phosphate phosphatase activity	IEA
GO:0060304	Process	Regulation of phosphatidylinositol dephosphorylation	IDA	16787938

Other IDs

• MIM: 300171
• HGNC: 7449
• e!Ensembl: ENSG00000063601

Protein

• UniProt ID: Q13613
• Protein name: Phosphatidylinositol-3-phosphate phosphatase MTMR1 (EC 3.1.3.-) (Myotubularin-related protein 1) (Phosphatidylinositol-3,5-bisphosphate 3-phosphatase) (EC 3.1.3.95)
• Protein function: Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate, generating phosphatidylinositol (PubMed:11733541, PubMed:27018598). Could also dephosphorylate phosphatidylinositol 3,5-bisphosphate to pr
• PDB: 5C16
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02893	GRAM	91 → 206	GRAM domain	Domain
  PF06602	Myotub-related	213 → 550	Myotubularin-like phosphatase domain	Domain

• Sequence:

  MDRPAAAAAAGCEGGGGPNPGPAGGRRPPRAAGGATAGSRQPSVETLDSPTGSHVEWCKQ
  LIAATISSQISGSVTSENVSRDYKALRDGNKLAQMEEAPLFPGESIKAIVKDVMYICPFM
  GAVSGTLTVTDFKLYFKNVERDPHFILDVPLGVISRVEKIGAQSHGDNSCGIEIVCKDMR
  NLRLAYKQEEQSKLGIFENLNKHAFPLSNGQALFAFSYKEKFPINGWKVYDPVSEYKRQG
  LPNESWKISKINSNYEFCDTYPAIIVVPTSVKDDDLSKVAAFRAKGRVPVLSWIHPESQA
  TITRCSQPLVGPNDKRCKEDEKYLQTIMDANAQSHKLIIFDARQNSVADTNKTKGGGYES
  ESAYPNAELVFLEIHNIHVMRESLRKLKEIVYPSIDEARWLSNVDGTHWLEYIRMLLAGA
  VRIADKIESGKTSVVVHCSDGWDRTAQLTSLAMLMLDSYYRTIKGFETLVEKEWISFGHR
  FALRVGHGNDNHADADRSPIFLQFVDCVWQMTRQFPSAFEFNELFLITILDHLYSCLFGT
  FLCNCEQQRFKEDVYTKTISLWSYINSQLDEFSNPFFVNYENHVLYPVASLSHLELWVNY
  YVRWNPRMRPQMPIHQNLKELLAVRAELQKRVEGLQREVATRAVSSSSERGSSPSHSATS
  VHTSV

• Sequence length: 665

Pathways

KEGG Pathway	Reactome Pathway
Inositol phosphate metabolism	Synthesis of PIPs at the plasma membrane
Metabolic pathways
Phosphatidylinositol signaling system

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (17)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (6)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Charcot-Marie-Tooth disease, Type 4B1	Charcot-Marie-Tooth Disease	BEFREE	29408998		★☆☆☆☆ Found in Text Mining only
Congenital Myotonic Dystrophy	Congenital Myotonic Dystrophy	BEFREE	12217958		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	20685272		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	20685272		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	BEFREE	29408998, 9828128		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

MTMR8 3 shared pathwaysInositol phosphate metabolism, Phosphatidylinositol signaling system, Synthesis of PIPs at the plasma membrane Related via 3 shared pathways including Inositol phosphate metabolism, Phosphatidylinositol signaling system. MTMR6 3 shared pathwaysInositol phosphate metabolism, Phosphatidylinositol signaling system, Synthesis of PIPs at the plasma membrane Related via 3 shared pathways including Inositol phosphate metabolism, Phosphatidylinositol signaling system. PIK3C2B 3 shared pathwaysInositol phosphate metabolism, Phosphatidylinositol signaling system, Synthesis of PIPs at the plasma membrane Related via 3 shared pathways including Inositol phosphate metabolism, Phosphatidylinositol signaling system. SYNJ2 3 shared pathwaysInositol phosphate metabolism, Phosphatidylinositol signaling system, Synthesis of PIPs at the plasma membrane Related via 3 shared pathways including Inositol phosphate metabolism, Phosphatidylinositol signaling system. INPP5K 2 shared pathwaysInositol phosphate metabolism, Synthesis of PIPs at the plasma membrane Related via 2 shared pathways including Inositol phosphate metabolism, Synthesis of PIPs at the plasma membrane.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MTMR8	0	[]	3	["Inositol phosphate metabolism","Phosphatidylinositol signaling system","Synthesis of PIPs at the plasma membrane"]	0	[]
MTMR6	0	[]	3	["Inositol phosphate metabolism","Phosphatidylinositol signaling system","Synthesis of PIPs at the plasma membrane"]	0	[]
PIK3C2B	0	[]	3	["Inositol phosphate metabolism","Phosphatidylinositol signaling system","Synthesis of PIPs at the plasma membrane"]	0	[]
SYNJ2	0	[]	3	["Inositol phosphate metabolism","Phosphatidylinositol signaling system","Synthesis of PIPs at the plasma membrane"]	0	[]
INPP5K	0	[]	2	["Inositol phosphate metabolism","Synthesis of PIPs at the plasma membrane"]	0	[]

Diseases Linked via Similar Genes

Kleine-levin syndrome Linked via 1 of 5 related genesMTMR8 Alzheimer disease Linked via 1 of 5 related genesPIK3C2B Atrial fibrillation Linked via 1 of 5 related genesPIK3C2B Neoplasms Linked via 1 of 5 related genesPIK3C2B Breast cancer Linked via 1 of 5 related genesPIK3C2B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Kleine-levin syndrome	1	["MTMR8"]
Alzheimer disease	1	["PIK3C2B"]
Atrial fibrillation	1	["PIK3C2B"]
Neoplasms	1	["PIK3C2B"]
Breast cancer	1	["PIK3C2B"]