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MTM1 myotubularin 1 [ Homo sapiens (human) ]

Gene ID: 4534, updated on 11-Apr-2024

Summary

Official Symbol
MTM1provided by HGNC
Official Full Name
myotubularin 1provided by HGNC
Primary source
HGNC:HGNC:7448
See related
Ensembl:ENSG00000171100 MIM:300415; AllianceGenome:HGNC:7448
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
Also known as
CNM; CNMX; MTMX; XLMTM
Summary
This gene encodes a dual-specificity phosphatase that acts on both phosphotyrosine and phosphoserine. It is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

See MTM1 in Genome Data Viewer
Location:
Xq28
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (150562653..150673143)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (148830768..148940792)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149737071..149841616)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:149406763-149407264 Neighboring gene X-ray repair cross complementing 6 pseudogene 2 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 ATAC-STARR-seq lymphoblastoid silent region 21051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21052 Neighboring gene myotubularin related protein 1 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 uncharacterized LOC124905294 Neighboring gene CD99 molecule like 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Severe X-linked myotubular myopathy
MedGen: C0410203 OMIM: 310400 GeneReviews: X-Linked Myotubular Myopathy
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-01-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-11)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in TOR signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in endosome to lysosome transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intermediate filament organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion distribution IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in mitochondrion distribution IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in muscle cell cellular homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of TOR signaling IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction 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 positive regulation of skeletal muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of vacuole organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in skeletal muscle tissue growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in I band IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in filopodium IDA
Inferred from Direct Assay
more info
PubMed 
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
myotubularin
Names
phosphatidylinositol-3,5-bisphosphate 3-phosphatase
phosphatidylinositol-3-phosphate phosphatase
NP_000243.1
NP_001363835.1
NP_001363836.1
NP_001363837.1
XP_011529473.1
XP_011529474.1
XP_016885036.1
XP_016885037.1
XP_016885040.1
XP_047298088.1
XP_047298089.1
XP_047298090.1
XP_047298091.1
XP_047298092.1
XP_047298093.1
XP_054183086.1
XP_054183087.1
XP_054183088.1
XP_054183089.1
XP_054183090.1
XP_054183091.1
XP_054183092.1
XP_054183093.1
XP_054183094.1
XP_054183095.1
XP_054183096.1

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_008199.1 RefSeqGene

    Range
    5001..109570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_839

mRNA and Protein(s)

  1. NM_000252.3NP_000243.1  myotubularin isoform 1

    See identical proteins and their annotated locations for NP_000243.1

    Status: REVIEWED

    Source sequence(s)
    BC030779, BQ002481, DC418907, U46024
    Consensus CDS
    CCDS14694.1
    UniProtKB/Swiss-Prot
    A6NDB1, B7Z491, F2Z330, Q13496, Q8NEL1
    UniProtKB/TrEMBL
    A8K6P5
    Related
    ENSP00000359423.3, ENST00000370396.7
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162489
    Myotub-related; Myotubularin-like phosphatase domain
  2. NM_001376906.1NP_001363835.1  myotubularin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC136957, AF002223
    UniProtKB/TrEMBL
    A8K6P5
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162489
    Myotub-related; Myotubularin-like phosphatase domain
  3. NM_001376907.1NP_001363836.1  myotubularin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC136957, AF002223
    UniProtKB/TrEMBL
    A0A8I5QJV9
    Related
    ENSP00000510634.1, ENST00000692015.1
    Conserved Domains (2) summary
    pfam06602
    Location:113451
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44106
    PH-like; Pleckstrin homology-like domain
  4. NM_001376908.1NP_001363837.1  myotubularin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC136957, AF002223
    Consensus CDS
    CCDS14694.1
    UniProtKB/Swiss-Prot
    A6NDB1, B7Z491, F2Z330, Q13496, Q8NEL1
    UniProtKB/TrEMBL
    A8K6P5
    Related
    ENSP00000508718.1, ENST00000689694.1
    Conserved Domains (2) summary
    cd13355
    Location:44143
    PH-GRAM_MTM1; Myotubularian 1 protein (MTM1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:162489
    Myotub-related; Myotubularin-like phosphatase domain

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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    150562653..150673143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442132.1XP_047298088.1  myotubularin isoform X1

  2. XM_011531172.2XP_011529474.1  myotubularin isoform X3

    See identical proteins and their annotated locations for XP_011529474.1

    UniProtKB/TrEMBL
    A0A8I5KZ76, A8K6P5
    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  3. XM_047442133.1XP_047298089.1  myotubularin isoform X1

  4. XM_047442134.1XP_047298090.1  myotubularin isoform X4

  5. XM_017029548.2XP_016885037.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8I5KZ76, A8K6P5
    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  6. XM_011531171.2XP_011529473.1  myotubularin isoform X3

    See identical proteins and their annotated locations for XP_011529473.1

    UniProtKB/TrEMBL
    A0A8I5KZ76, A8K6P5
    Related
    ENSP00000510607.1, ENST00000689314.1
    Conserved Domains (2) summary
    pfam06602
    Location:165498
    Myotub-related; Myotubularin-like phosphatase domain
    cl17171
    Location:44158
    PH-like; Pleckstrin homology-like domain
  7. XM_047442137.1XP_047298093.1  myotubularin isoform X6

    Related
    ENST00000306167.11
  8. XM_047442135.1XP_047298091.1  myotubularin isoform X4

  9. XM_047442136.1XP_047298092.1  myotubularin isoform X5

  10. XM_017029547.1XP_016885036.1  myotubularin isoform X2

    UniProtKB/TrEMBL
    A8K6P5
  11. XM_017029551.3XP_016885040.1  myotubularin isoform X7

    UniProtKB/TrEMBL
    A0A8I5KQR6
    Related
    ENSP00000509809.1, ENST00000690282.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    148830768..148940792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327111.1XP_054183086.1  myotubularin isoform X1

  2. XM_054327115.1XP_054183090.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8I5KZ76
  3. XM_054327112.1XP_054183087.1  myotubularin isoform X1

  4. XM_054327117.1XP_054183092.1  myotubularin isoform X4

  5. XM_054327116.1XP_054183091.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8I5KZ76
  6. XM_054327114.1XP_054183089.1  myotubularin isoform X3

    UniProtKB/TrEMBL
    A0A8I5KZ76
  7. XM_054327120.1XP_054183095.1  myotubularin isoform X6

  8. XM_054327118.1XP_054183093.1  myotubularin isoform X4

  9. XM_054327119.1XP_054183094.1  myotubularin isoform X5

  10. XM_054327113.1XP_054183088.1  myotubularin isoform X2

  11. XM_054327121.1XP_054183096.1  myotubularin isoform X7

    UniProtKB/TrEMBL
    A0A8I5KQR6