MTMR1 - myotubularin related protein 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8776

About MTMR1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,692,962-150,765,108 (from NCBI)

This gene has 14 transcripts (splice variants), 242 orthologues and 13 paralogues. Ubiquitous expression in lymph node (RPKM 7.5), skin (RPKM 6.6) and 25 other tissues.

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]

MTMR1 Products (10)

mRNA Protein Name
NM_001306144.3 NP_001293073.1 myotubularin-related protein 1 isoform 1
NM_001306145.2 NP_001293074.1 myotubularin-related protein 1 isoform 3
NM_001353990.2 NP_001340919.1 myotubularin-related protein 1 isoform 4
NM_001353991.1 NP_001340920.1 myotubularin-related protein 1 isoform 5
NM_001353992.1 NP_001340921.1 myotubularin-related protein 1 isoform 5
NM_001353993.1 NP_001340922.1 myotubularin-related protein 1 isoform 5
NM_001353994.1 NP_001340923.1 myotubularin-related protein 1 isoform 5
NM_001353995.1 NP_001340924.1 myotubularin-related protein 1 isoform 5
NM_001353996.1 NP_001340925.1 myotubularin-related protein 1 isoform 5
NM_003828.5 NP_003819.1 myotubularin-related protein 1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
IDA: Inferred from direct assay
27018598 GOA
enables phosphatidylinositol-3-phosphate phosphatase activity IDA
IDA: Inferred from direct assay
11733541 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
27018598 GOA
Biological Process GO Annotation Evidence Références Source
involved in phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
11733541 GOA
involved in regulation of phosphatidylinositol dephosphorylation IDA
IDA: Inferred from direct assay
16787938 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytoplasm IDA
IDA: Inferred from direct assay
16787938 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTMR1 Protein Structure

GRAM

GRAM: GRAM domain (109 - 160)

Myotub-related

Myotub-related: Myotubularin-like phosphatase domain (213 - 551)

  • 0
  • 200
  • 400
  • 600
  • 665 a.a.
Protein Preferred Names Protein Names

myotubularin-related protein 1

  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase

Related Diseases

Diseases Alias
Myopathy, Centronuclear, X-Linked

  • X-Linked Myotubular Myopathy

  • Xlmtm

  • X-Linked Centronuclear Myopathy

  • Xlcnm

  • CNMX

  • Mtm1

  • Myotubular Myopathy, X-Linked

  • Mtmx

  • Myotubular Myopathy 1

  • Centronuclear Myopathy X-Linked

  • Myotubular Myopathy

  • Mtm

  • Cnm

  • Xmtm

  • Myotubular Myopathy Type 1
Charcot-Marie-Tooth Disease, Type 4b1

  • Charcot-Marie-Tooth Disease Type 4b1

  • CMT4B1

  • Cmt4b

  • Charcot-Marie-Tooth Neuropathy Type 4b1

  • Charcot-Marie-Tooth Disease Type 4b

  • Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

  • Charcot-Marie-Tooth Neuropathy, Type 4b1

  • Charcot-Marie-Tooth Disease, Type 4b

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1

  • Charcot-Marie-Tooth Disease 4b1

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Centronuclear Myopathy

  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy
Charcot-Marie-Tooth Disease, Type 4b2

  • Charcot-Marie-Tooth Disease Type 4b2

  • CMT4B2

  • Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2

  • Charcot-Marie-Tooth Neuropathy, Type 4b2

  • Charcot-Marie-Tooth Neuropathy Type 4b2

  • Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2

  • Cmt 4b2

  • Charcot Marie Tooth Disease Type 4b2

  • Charcot-Marie-Tooth Disease 4b2

  • Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2

  • Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Charcot-Marie-Tooth Disease, Type 4b3

  • Charcot-Marie-Tooth Disease Type 4b3

  • CMT4B3

  • Charcot-Marie-Tooth Disease With Focally Folded Myelin

  • Charcot-Marie-Tooth Disease 4b3

  • Charcot-Marie-Tooth Neuropathy Type 4b3
Charcot-Marie-Tooth Disease

  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies
Myopathy

  • Muscular Diseases

  • Myopathies
Myotonic Dystrophy 1

  • Myotonic Dystrophy

  • Dystrophia Myotonica

  • Steinert Disease

  • Myotonic Dystrophy Type 1

  • Myotonia Atrophica

  • DM1

  • Congenital Myotonic Dystrophy

  • Myotonia Dystrophica

  • Steinert Myotonic Dystrophy

  • Dystrophia Myotonica 1

  • Dm

  • Steinert'S Disease

  • Steinert Myotonic Dystrophy Syndrome

  • Myotonic Dystrophy Of Steinert

  • Dystrophia Myotonica Type 1

  • Myotonic Dystrophy Congenital

  • Dystrophy, Myotonic, Type 1

  • Dm - [Dystrophia Myotonica]

  • Myotonic Muscular Dystrophy
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS08785 MTMR1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris MTMR1 VGNC VGNC:43478
Mus musculus MTMR1 MGD MGI:1858271
Macaca mulatta MTMR1 VGNC VGNC:75072
Felis catus MTMR1 VGNC VGNC:68344
Bos taurus MTMR1 VGNC VGNC:31736
Rattus norvegicus MTMR1 RGD RGD:1306569
Others MTMR1 NCBI