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myotubularin related protein 14

Summary

Gene Symbol

MTMR14

Aliases

FLJ22405
FLJ90311
egg-derived tyrosine phosphatase homolog (Drosophila)
hEDTP
hJumpy

Organism

Homo sapiens (human)

External Links

NCBI Gene

64419

HGNC

26190

KEGG Gene ID

hsa:64419

PubChem

64419

Alliance of Genome Resources

HGNC:26190

Annotation

Keyword

Acetylation
Alternative splicing
Cytoplasm
Disease variant
Glycoprotein
Hydrolase
Methylation
Phosphoprotein
Reference proteome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q8WYY9
Q8NCE2	HCV NS5A-transactivated protein 4 splice variant A-binding protein 1 hJumpy

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 2** entries
GO Term	Evidence Code	PMID
phosphatidylinositol biosynthetic process
macroautophagy

GO Hierarchy

biological process

metabolic process [inference]

catabolic process [inference]

cellular catabolic process [inference]

autophagy [inference]

macroautophagy

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular catabolic process [inference]

autophagy [inference]

macroautophagy

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular catabolic process [inference]

autophagy [inference]

macroautophagy

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

process utilizing autophagic mechanism [inference]

autophagy [inference]

macroautophagy

Displaying **all 3** entries
GO Term	Evidence Code	PMID
cytosol
perinuclear region of cytoplasm	IDA	17008356
ruffle	IDA	17008356

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

cell projection [inference]

plasma membrane bounded cell projection [inference]

ruffle

perinuclear region of cytoplasm

Displaying **all 4** entries
GO Term	Evidence Code	PMID
phosphatidylinositol-3-phosphate phosphatase activity	IBA IDA TAS	17008356
protein serine/threonine phosphatase activity
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
protein binding	IPI	25416956 25910212

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity [inference]

phosphoprotein phosphatase activity [inference]

protein serine/threonine phosphatase activity

phosphatidylinositol phosphate phosphatase activity [inference]

phosphatidylinositol bisphosphate phosphatase activity [inference]

phosphatidylinositol-3,5-bisphosphate phosphatase activity [inference]

phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

phosphatidylinositol monophosphate phosphatase activity [inference]

phosphatidylinositol-3-phosphate phosphatase activity

catalytic activity, acting on a protein [inference]

phosphoprotein phosphatase activity [inference]

protein serine/threonine phosphatase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000163719

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K18086

Name

myotubularin-related protein 14 [EC:3.1.3.64 3.1.3.95]

References

Disease

Disease Ontology

Displaying entries **41 - 45** of 45 in total

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DO ID	Disease Name	Source
DOID:686	liver carcinoma	DisGeNET
DOID:8488	polyhydramnios	DisGeNET
DOID:8545	malignant hyperthermia	DisGeNET
DOID:9923	developmental coordination disorder	DisGeNET
DOID:9970	obesity	DisGeNET

The Human Phenotype Ontology

Displaying entries **11 - 20** of 47 in total

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HPO ID	HPO Term
HP:0001371	Flexion contracture
HP:0001436	Abnormality of the foot musculature
HP:0001520	Large for gestational age
HP:0001558	Decreased fetal movement
HP:0001561	Polyhydramnios
HP:0002021	Pyloric stenosis
HP:0002047	Malignant hyperthermia
HP:0002194	Delayed gross motor development
HP:0002355	Difficulty walking
HP:0002522	Areflexia of lower limbs

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:169189	autosomal dominant centronuclear myopathy
OMIM:160150	autosomal dominant centronuclear myopathy

PubChem Disease

MedGen Diseases

Autosomal dominant centronuclear myopathy

OMIM Phenotypes

MYOPATHY, CENTRONUCLEAR, 1; CNM1

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **81 - 87** of 87 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Cynoglossus semilaevis	103386626		CYNSE04029
Propithecus coquereli	105812594		PROCO19830
Cyprinus carpio carpio	109092397		CYPCA48139
Cyprinus carpio carpio	109092399		CYPCA55321
Nannospalax galili	103751415		NANGA02962
Corvus moneduloides	116449589		CORMO01289
Carlito syrichta	103270574		CARSF22336

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Last updated: August 19, 2024