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

Gene ID: 8776, updated on 21-Dec-2019

Summary

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
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

Genomic context

See MTMR1 in Genome Data Viewer
Location:
Xq28
Exon count:
23
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (150692962..150765108)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (149861837..149933575)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene mastermind like domain containing 1 Neighboring gene myotubularin 1 Neighboring gene cytochrome P450 family 2 subfamily C member 64, pseudogene Neighboring gene CD99 molecule like 2 Neighboring gene peptidylprolyl isomerase A pseudogene 91 Neighboring gene RNA, U6 small nuclear 383, pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3-phosphatase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol biosynthetic process TAS
Traceable Author Statement
more info
 
phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of phosphatidylinositol dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
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_016885409.1
XP_016885410.1
XP_016885412.1
XP_016885413.1

NCBI Reference Sequences (RefSeq)

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_012551.1 RefSeqGene

    Range
    5001..76713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306144.3NP_001293073.1  myotubularin-related protein 1 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:115214
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:221556
    Myotub-related; Myotubularin-like phosphatase domain
  2. NM_001306145.1NP_001293074.1  myotubularin-related protein 1 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, DR000536
    Consensus CDS
    CCDS78513.1
    UniProtKB/TrEMBL
    Q8NEC6
    Related
    ENSP00000445281.1, ENST00000542156.5
    Conserved Domains (2) summary
    cd13358
    Location:107206
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:213352
    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_001353990.2NP_001340919.1  myotubularin-related protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AF002223
    Conserved Domains (2) summary
    cd13358
    Location:124223
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:246566
    Myotub-related; Myotubularin-like phosphatase domain
  4. NM_001353991.1NP_001340920.1  myotubularin-related protein 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 6-10, encodes isoform 5.
    Source sequence(s)
    AF002223
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  5. NM_001353992.1NP_001340921.1  myotubularin-related protein 1 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
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  6. NM_001353993.1NP_001340922.1  myotubularin-related protein 1 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
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  7. NM_001353994.1NP_001340923.1  myotubularin-related protein 1 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
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  8. NM_001353995.1NP_001340924.1  myotubularin-related protein 1 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
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  9. NM_001353996.1NP_001340925.1  myotubularin-related protein 1 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 5-9, encodes isoform 5.
    Source sequence(s)
    AF002223
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  10. NM_003828.4NP_003819.1  myotubularin-related protein 1 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)
    AA731515, AA748701, AF002223, AF057354, AJ224979, AK226109, BC032947
    Consensus CDS
    CCDS14695.1
    UniProtKB/Swiss-Prot
    Q13613
    UniProtKB/TrEMBL
    Q8NEC6
    Related
    ENSP00000359417.3, ENST00000370390.7
    Conserved Domains (2) summary
    cd13358
    Location:107206
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:213548
    Myotub-related; Myotubularin-like phosphatase domain

RNA

  1. NR_148676.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AF002223
    Related
    ENST00000485376.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006724855.3XP_006724918.1  myotubularin-related protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006724918.1

    UniProtKB/Swiss-Prot
    Q13613
    Conserved Domains (2) summary
    cd13358
    Location:107206
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:213548
    Myotub-related; Myotubularin-like phosphatase domain
  2. XM_017029924.1XP_016885413.1  myotubularin-related protein 1 isoform X8

  3. XM_011531210.2XP_011529512.1  myotubularin-related protein 1 isoform X7

    Conserved Domains (2) summary
    cd13358
    Location:141240
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    cl21483
    Location:247386
    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 ...
  4. XM_005274765.3XP_005274822.1  myotubularin-related protein 1 isoform X1

    Conserved Domains (2) summary
    cd13358
    Location:141240
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:247582
    Myotub-related; Myotubularin-like phosphatase domain
  5. XM_017029920.1XP_016885409.1  myotubularin-related protein 1 isoform X4

  6. XM_005274766.3XP_005274823.1  myotubularin-related protein 1 isoform X2

    Conserved Domains (2) summary
    cd13358
    Location:124223
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:230565
    Myotub-related; Myotubularin-like phosphatase domain
  7. XM_017029921.1XP_016885410.1  myotubularin-related protein 1 isoform X5

    UniProtKB/TrEMBL
    B7Z3D5
    Conserved Domains (2) summary
    cd13358
    Location:13112
    PH-GRAM_MTMR1; Myotubularian related 1 protein (MTMR1) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    pfam06602
    Location:135455
    Myotub-related; Myotubularin-like phosphatase domain
  8. XM_017029923.1XP_016885412.1  myotubularin-related protein 1 isoform X6

RNA

  1. XR_001755740.1 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.
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