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Mtmr4 myotubularin related protein 4 [ Mus musculus (house mouse) ]

Gene ID: 170749, updated on 13-Oct-2024

Summary

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Official Symbol
Mtmr4provided by MGI
Official Full Name
myotubularin related protein 4provided by MGI
Primary source
MGI:MGI:2180699
See related
Ensembl:ENSMUSG00000018401 AllianceGenome:MGI:2180699
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ESTM44; ZFYVE11; FYVE-DSP2; mKIAA0647
Summary
Predicted to enable phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity; phosphatidylinositol-3-phosphatase activity; and protein phosphatase binding activity. Predicted to be involved in phosphatidylinositol dephosphorylation; regulation of autophagy; and regulation of phosphatidylinositol dephosphorylation. Predicted to be located in endosome. Predicted to be active in cytoplasm and membrane. Is expressed in central nervous system; embryo; retina inner nuclear layer; and retina outer nuclear layer. Orthologous to human MTMR4 (myotubularin related protein 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in whole brain E14.5 (RPKM 12.2), CNS E18 (RPKM 11.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Mtmr4 in Genome Data Viewer
Location:
11 C; 11 52.15 cM
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (87482769..87507128)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (87591954..87616302)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene testis expressed gene 14 intercellular bridge forming factor Neighboring gene predicted gene, 34000 Neighboring gene septin 4 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:87405102-87405211 Neighboring gene STARR-positive B cell enhancer ABC_E68 Neighboring gene STARR-seq mESC enhancer starr_30293 Neighboring gene heat shock transcription factor family member 5 Neighboring gene STARR-positive B cell enhancer ABC_E5260 Neighboring gene STARR-seq mESC enhancer starr_30296 Neighboring gene ring finger protein 43 Neighboring gene predicted gene, 25968

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The myotubularin MTMR4 regulates phagosomal phosphatidylinositol 3-phosphate turnover and phagocytosis. Sheffield DA, et al. J Biol Chem, 2019 Nov 8. PMID 31543504, Free PMC Article
  2. PtdIns3P phosphatases MTMR3 and MTMR4 negatively regulate innate immune responses to DNA through modulating STING trafficking. Dewi Pamungkas Putri D, et al. J Biol Chem, 2019 May 24. PMID 30944173, Free PMC Article
  3. Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). Eddleston J, et al. Genomics, 1999 Mar 1. PMID 10051400
  4. Prediction of the coding sequences of mouse homologues of KIAA gene: I. The complete nucleotide sequences of 100 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2002 Oct 31. PMID 12465718
  5. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2)  1 citation
  • Targeted (1) 

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 MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables molecular adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-3-phosphate phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein phosphatase binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein phosphatase binding ISO
Inferred from Sequence Orthology
more info
  
enables protein serine/threonine phosphatase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in midbody abscission ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of BMP signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of endocytic recycling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in phagosome maturation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in phosphatidylinositol dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphatidylinositol dephosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of phosphatidylinositol dephosphorylation ISO
Inferred from Sequence Orthology
more info
  
involved_in response to denervation involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in early phagosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in late endosome membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
myotubularin-related protein 4
Names
FYVE zinc finger phosphatase
NP_001344830.1
NP_001389514.1
NP_001389515.1
NP_001389516.1
NP_001389517.1
NP_001389518.1
NP_001389519.1
NP_001389520.1
NP_001389521.1
NP_001389522.1
NP_001389523.1
NP_573478.1
XP_036012263.1

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.

mRNA and Protein(s)

  1. NM_001357901.1 → NP_001344830.1  myotubularin-related protein 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
    Source sequence(s)
    AK133861, AK146641, BC058091, BF470538, BY263784, CO041663
    Consensus CDS
    CCDS88215.1
    Related
    ENSMUSP00000090478.6, ENSMUST00000092802.12
    Conserved Domains (3) summary
    cd13342
    Location:23 → 136
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:1049 → 1108
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    pfam06602
    Location:160 → 496
    Myotub-related; Myotubularin-like phosphatase domain

  2. NM_001402585.1 → NP_001389514.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  3. NM_001402586.1 → NP_001389515.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  4. NM_001402587.1 → NP_001389516.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  5. NM_001402588.1 → NP_001389517.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1
    Related
    ENSMUSP00000112902.2, ENSMUST00000119628.8

  6. NM_001402589.1 → NP_001389518.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  7. NM_001402590.1 → NP_001389519.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  8. NM_001402591.1 → NP_001389520.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  9. NM_001402592.1 → NP_001389521.1  myotubularin-related protein 4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596086
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1

  10. NM_001402593.1 → NP_001389522.1  myotubularin-related protein 4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596086

  11. NM_001402594.1 → NP_001389523.1  myotubularin-related protein 4 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596086

  12. NM_133215.2 → NP_573478.1  myotubularin-related protein 4 isoform 1

    See identical proteins and their annotated locations for NP_573478.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK133861, AK146641, BC058091, BF470538, BY263784, CO041663
    Consensus CDS
    CCDS25214.1
    UniProtKB/Swiss-Prot
    Q5ND06, Q5ND08, Q91XS1
    Related
    ENSMUSP00000099468.4, ENSMUST00000103179.10
    Conserved Domains (4) summary
    cd13342
    Location:23 → 136
    PH-GRAM_MTMR4; Myotubularian (MTM) related 4 protein (MTMR4) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cd15733
    Location:1106 → 1165
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    cd14587
    Location:172 → 479
    PTP-MTMR4; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 4
    pfam03154
    Location:729 → 849
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    87482769..87507128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036156370.1 → XP_036012263.1  myotubularin-related protein 4 isoform X3

    Conserved Domains (3) summary
    cd15733
    Location:1076 → 1135
    FYVE_MTMR4; FYVE domain found in myotubularin-related protein 4 (MTMR4) and similar proteins
    cd14587
    Location:142 → 449
    PTP-MTMR4; protein tyrosine phosphatase-like domain of myotubularin related phosphoinositide phosphatase 4
    cl17171
    Location:2 → 106
    PH-like; Pleckstrin homology-like domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91XS1.1 GenPept UniProtKB/Swiss-Prot:Q91XS1

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