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

    Gene ID: 8776, updated on 2-Nov-2024

    Summary

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    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

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    See MTMR1 in Genome Data Viewer
    Location:
    Xq28
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (150692962..150765108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148960611..149032751)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149861435..149933581)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mastermind like domain containing 1 Neighboring gene uncharacterized LOC124905223 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149733744-149734666 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149734667-149735588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30022 Neighboring gene myotubularin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30024 Neighboring gene cytochrome P450 family 2 subfamily C member 64, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:149940339-149940886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:149940887-149941432 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:149946045-149946676 Neighboring gene CD99 molecule like 2 Neighboring gene uncharacterized LOC124905294 Neighboring gene peptidylprolyl isomerase A pseudogene 91

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Crystal Structure of Human Myotubularin-Related Protein 1 Provides Insight into the Structural Basis of Substrate Specificity. Bong SM, et al. PLoS One, 2016. PMID 27018598, Free PMC Article
    2. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease. Kim SA, et al. J Biol Chem, 2002 Feb 8. PMID 11733541
    3. 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). Santoro M, et al. Exp Mol Pathol, 2010 Oct. PMID 20685272
    4. Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1). Kioschis P, et al. Genomics, 1998 Dec 1. PMID 9828128
    5. The myotubularin family: from genetic disease to phosphoinositide metabolism. Laporte J, et al. Trends Genet, 2001 Apr. PMID 11275328

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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).
    2. 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.
    3. 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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    phosphatidylinositol-3-phosphate phosphatase MTMR1; myotubularin-related protein 1
    Names
    phosphatidylinositol-3,5-bisphosphate 3-phosphatase
    phosphatidylinositol-3-phosphate phosphatase
    NP_001293073.1
    NP_001293074.1
    NP_001340919.1
    NP_001340920.1
    NP_001340921.1
    NP_001340922.1
    NP_001340923.1
    NP_001340924.1
    NP_001340925.1
    NP_003819.1
    XP_005274822.1
    XP_005274823.1
    XP_006724918.1
    XP_011529512.1
    XP_016885410.1
    XP_016885412.1
    XP_016885413.1
    XP_047298560.1
    XP_047298561.1
    XP_054184014.1
    XP_054184015.1
    XP_054184016.1
    XP_054184017.1
    XP_054184018.1
    XP_054184019.1
    XP_054184020.1
    XP_054184021.1

    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

    1. NG_012551.2 RefSeqGene

      Range
      5436..77148
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001306144.3 → NP_001293073.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    2. NM_001306145.2 → NP_001293074.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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 ...

    3. NM_001353990.2 → NP_001340919.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    4. NM_001353991.1 → NP_001340920.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    5. NM_001353992.1 → NP_001340921.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    6. NM_001353993.1 → NP_001340922.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    7. NM_001353994.1 → NP_001340923.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    8. NM_001353995.1 → NP_001340924.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    9. NM_001353996.1 → NP_001340925.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    10. NM_003828.5 → NP_003819.1  phosphatidylinositol-3-phosphate phosphatase MTMR1 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

    1. NR_148676.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF002223
      Related
      ENST00000485376.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      150692962..150765108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. XM_047442604.1 → XP_047298560.1  myotubularin-related protein 1 isoform X4

    5. 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 ...

    6. XM_017029924.2 → XP_016885413.1  myotubularin-related protein 1 isoform X8

    7. XM_047442605.1 → XP_047298561.1  myotubularin-related protein 1 isoform X5

      UniProtKB/TrEMBL
      B7Z3D5

    8. 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

    9. XM_017029923.2 → XP_016885412.1  myotubularin-related protein 1 isoform X6

    RNA

    1. XR_007068204.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      148960611..149032751
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328039.1 → XP_054184014.1  myotubularin-related protein 1 isoform X1

    2. XM_054328040.1 → XP_054184015.1  myotubularin-related protein 1 isoform X2

    3. XM_054328041.1 → XP_054184016.1  myotubularin-related protein 1 isoform X3

      UniProtKB/Swiss-Prot
      A0A024RC07, Q13613, Q9UBX6, Q9UEM0, Q9UQD5

    4. XM_054328042.1 → XP_054184017.1  myotubularin-related protein 1 isoform X4

    5. XM_054328045.1 → XP_054184020.1  myotubularin-related protein 1 isoform X7

    6. XM_054328046.1 → XP_054184021.1  myotubularin-related protein 1 isoform X8

    7. XM_054328043.1 → XP_054184018.1  myotubularin-related protein 1 isoform X5

      UniProtKB/TrEMBL
      B7Z3D5

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

    RNA

    1. XR_008485513.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_176789.1: Suppressed sequence

      Description
      NM_176789.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13613.4 GenPept UniProtKB/Swiss-Prot:Q13613

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