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Protein

Myotubularin

Gene

Mtm1

Organism
Rattus norvegicus (Rat)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). Has also been shown to dephosphorylate phosphotyrosine- and phosphoserine-containing peptides. Negatively regulates EGFR degradation through regulation of EGFR trafficking from the late endosome to the lysosome. Plays a role in vacuolar formation and morphology. Regulates desmin intermediate filament assembly and architecture. Plays a role in mitochondrial morphology and positioning. Required for skeletal muscle maintenance but not for myogenesis (By similarity).By similarity

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.By similarity
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.By similarity

Enzyme regulationi

Allosterically activated by phosphatidylinositol 5-phosphate (PI5P).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei375Phosphocysteine intermediatePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protein phosphatase
Biological processLipid metabolism, Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin
Alternative name(s):
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.95By similarity)
Phosphatidylinositol-3-phosphate phosphatase (EC:3.1.3.64By similarity)
Gene namesi
Name:Mtm1
OrganismiRattus norvegicus (Rat)
Taxonomic identifieri10116 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeRattus
Proteomesi
  • UP000002494 Componenti: Unplaced

Organism-specific databases

RGDi1304582 Mtm1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Endosome, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003286571 – 602MyotubularinAdd BLAST602

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei18PhosphoserineBy similarity1
Modified residuei495PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ6AXQ4
PRIDEiQ6AXQ4

PTM databases

iPTMnetiQ6AXQ4
PhosphoSitePlusiQ6AXQ4

Expressioni

Gene expression databases

GenevisibleiQ6AXQ4 RN

Interactioni

Subunit structurei

Interacts with MTMR12; the interaction modulates MTM1 intracellular localization. Interacts with KMT2A/MLL1 (via SET domain). Interacts with DES in skeletal muscle but not in cardiac muscle (By similarity). Interacts with SPEG (By similarity).By similarity

Protein-protein interaction databases

STRINGi10116.ENSRNOP00000058761

Structurei

3D structure databases

ProteinModelPortaliQ6AXQ4
SMRiQ6AXQ4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 97GRAMAdd BLAST70
Domaini163 – 538Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

Domaini

The GRAM domain mediates binding to PI(3,5)P2 and, with lower affinity, to other phosphoinositides.By similarity

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG4471 Eukaryota
ENOG410XPTU LUCA
HOGENOMiHOG000210598
HOVERGENiHBG000220
InParanoidiQ6AXQ4
KOiK01108
OrthoDBiEOG091G04DS
PhylomeDBiQ6AXQ4

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR004182 GRAM
IPR030561 Myotubularin
IPR010569 Myotubularin-like_Pase_dom
IPR030564 Myotubularin_fam
IPR011993 PH-like_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
PANTHERiPTHR10807 PTHR10807, 1 hit
PTHR10807:SF69 PTHR10807:SF69, 1 hit
PfamiView protein in Pfam
PF02893 GRAM, 1 hit
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
SM00568 GRAM, 1 hit
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51339 PPASE_MYOTUBULARIN, 1 hit
PS00383 TYR_PHOSPHATASE_1, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6AXQ4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASSSASDCD AHPVERESMR KVSQDGVRQD MSKSGPRLPG ESAITDKEVI
60 70 80 90 100
YICPFSGPVK GRLYITNYRL YLRSLETDLA PILDVPLGVI SRIEKMGGVT
110 120 130 140 150
SRGENSYGLD ITCKDLRNLR FALKQEGHSR RDIFDVLTRH AFPLAYNLPL
160 170 180 190 200
FAFVNEEKFK VDGWAIYNPV EEYRRQGLPD RHWRISFVNQ RYELCDTYPA
210 220 230 240 250
LLVVPYRASD DDLRRVATFR SRNRIPVLSW IHPENRAAIM RCSQPLVGVG
260 270 280 290 300
GKRSRDDERY LDIIRETNKQ TSKLTIYDAR PGVNAVANKA TGGGYEGEDA
310 320 330 340 350
YPHAELSFLD IHNIHVMRES LRRVRDIVYP HVEEAHWLSS LESTHWLEHI
360 370 380 390 400
KLLLTGAIRV ADKVASGLSS VLVHCSDGWD RTAQLTTLAM LMLDGFYRSI
410 420 430 440 450
EGFEILVQKE WISFGHKFSS RIGHGDKNHA DADRSPIFLQ FIDCVWQMTK
460 470 480 490 500
QFPTAFEFNE CFLVAILDHL YSCRFGTFLL NCEAARERQR LAERTVSVWS
510 520 530 540 550
LINSNKDEFT NPFYARESNR VIYPVTSVRH LELWVNYYIR WNPRIRQQPH
560 570 580 590 600
PMEQRYNELL ALRDDYIKKL EELQLATPTK LTDSSTPPSG SAQIAPRMQT

HF
Length:602
Mass (Da):69,352
Last modified:April 8, 2008 - v2
Checksum:i15F32DE9EE95288B
GO
Isoform 2 (identifier: Q6AXQ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     546-546: R → RQ

Note: No experimental confirmation available.
Show »
Length:603
Mass (Da):69,480
Checksum:i8B4A2B360F93D189
GO

Sequence cautioni

The sequence AAH79400 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH91225 differs from that shown. Reason: Erroneous termination at position 553. Translated as Glu.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_032751546R → RQ in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC079400 mRNA Translation: AAH79400.1 Different initiation.
BC091225 mRNA Translation: AAH91225.1 Sequence problems.
RefSeqiNP_001013065.1, NM_001013047.1
UniGeneiRn.23921

Genome annotation databases

GeneIDi288762
KEGGirno:288762
UCSCiRGD:1304582 rat [Q6AXQ4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiMTM1_RAT
AccessioniPrimary (citable) accession number: Q6AXQ4
Secondary accession number(s): Q5BK31
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: May 23, 2018
This is version 104 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families

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