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Protein

Myotubularin-related protein 1

Gene

MTMR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:11733541, PubMed:27018598). Activity with phosphatidylinositol (3,5)-bisphosphate is controversial; it has been shown by PubMed:27018598, while PubMed:11733541 find no activity with this substrate.2 Publications

Catalytic activityi

1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.1 Publication
1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.2 Publications

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei438 – 4381Phosphocysteine intermediatePROSITE-ProRule annotation1 Publication
Binding sitei484 – 4841SubstrateBy similarity

GO - Molecular functioni

  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Source: UniProtKB
  • phosphatidylinositol-3-phosphatase activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB
  • protein tyrosine phosphatase activity Source: InterPro

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Chemistry

SwissLipidsiSLP:000001136.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 1
Alternative name(s):
Phosphatidylinositol-3,5-bisphosphate 3-phosphatase (EC:3.1.3.951 Publication)
Phosphatidylinositol-3-phosphate phosphatase (EC:3.1.3.641 Publication)
Gene namesi
Name:MTMR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:7449. MTMR1.

Subcellular locationi

  • Cell membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
  • Cytoplasm By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi438 – 4381C → S: Abolishes enzyme activity. 1 Publication
Mutagenesisi443 – 4431D → A: Abolishes enzyme activity. 1 Publication
Mutagenesisi444 – 4441R → A: Abolishes enzyme activity with phosphatidylinositol 3-phosphate. Reduces activity with phosphatidylinositol (3,5)-bisphosphate. 1 Publication
Mutagenesisi484 – 4841R → A: Abolishes enzyme activity. 1 Publication

Organism-specific databases

PharmGKBiPA31252.

Polymorphism and mutation databases

BioMutaiMTMR1.
DMDMi33112667.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 665665Myotubularin-related protein 1PRO_0000094932Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1 – 11N-acetylmethionineCombined sources
Modified residuei43 – 431PhosphoserineCombined sources
Modified residuei49 – 491PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ13613.
PaxDbiQ13613.
PeptideAtlasiQ13613.
PRIDEiQ13613.

PTM databases

DEPODiQ13613.
iPTMnetiQ13613.
PhosphoSiteiQ13613.

Expressioni

Gene expression databases

BgeeiENSG00000063601.
CleanExiHS_MTMR1.
ExpressionAtlasiQ13613. baseline and differential.
GenevisibleiQ13613. HS.

Organism-specific databases

HPAiHPA018502.

Interactioni

Subunit structurei

Homodimer.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi114306. 18 interactions.
IntActiQ13613. 1 interaction.
STRINGi9606.ENSP00000359417.

Structurei

Secondary structure

1
665
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi106 – 11611Combined sources
Beta strandi118 – 1203Combined sources
Beta strandi122 – 13817Combined sources
Beta strandi145 – 1506Combined sources
Helixi151 – 1533Combined sources
Beta strandi154 – 1596Combined sources
Beta strandi172 – 1798Combined sources
Beta strandi181 – 1855Combined sources
Helixi196 – 2049Combined sources
Helixi206 – 2083Combined sources
Helixi214 – 2174Combined sources
Helixi226 – 2283Combined sources
Helixi232 – 2387Combined sources
Beta strandi244 – 2496Combined sources
Turni251 – 2544Combined sources
Beta strandi255 – 2573Combined sources
Beta strandi265 – 2684Combined sources
Helixi273 – 2819Combined sources
Helixi284 – 2863Combined sources
Beta strandi290 – 2945Combined sources
Turni296 – 2983Combined sources
Beta strandi301 – 3055Combined sources
Turni311 – 3144Combined sources
Helixi318 – 32912Combined sources
Beta strandi337 – 3437Combined sources
Helixi345 – 3539Combined sources
Turni361 – 3633Combined sources
Beta strandi367 – 3748Combined sources
Helixi377 – 39115Combined sources
Helixi397 – 3993Combined sources
Helixi400 – 4078Combined sources
Helixi409 – 42820Combined sources
Beta strandi434 – 4374Combined sources
Beta strandi439 – 4435Combined sources
Helixi444 – 45613Combined sources
Helixi458 – 4614Combined sources
Helixi463 – 47311Combined sources
Turni474 – 4785Combined sources
Helixi481 – 4855Combined sources
Turni486 – 4883Combined sources
Helixi500 – 51415Combined sources
Turni516 – 5183Combined sources
Helixi523 – 53513Combined sources
Beta strandi543 – 5453Combined sources
Helixi546 – 5516Combined sources
Helixi554 – 5574Combined sources
Helixi561 – 5677Combined sources
Helixi568 – 5725Combined sources
Helixi591 – 5933Combined sources
Helixi598 – 6014Combined sources
Turni602 – 6043Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5C16X-ray2.07A/B/C/D95-665[»]
ProteinModelPortaliQ13613.
SMRiQ13613. Positions 95-606.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini90 – 16172GRAMAdd
BLAST
Domaini226 – 601376Myotubularin phosphatasePROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni351 – 3544Substrate binding1 Publication
Regioni376 – 3772Substrate binding1 Publication
Regioni438 – 4447Substrate binding1 Publication
Regioni608 – 66558Required for dimerization1 PublicationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 106Poly-Ala
Compositional biasi14 – 174Poly-Gly
Compositional biasi645 – 6484Poly-Ser

Domaini

The C-terminal region is required for dimerization.1 Publication

Sequence similaritiesi

Contains 1 GRAM domain.Curated
Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210598.
HOVERGENiHBG000220.
InParanoidiQ13613.
KOiK18081.
PhylomeDBiQ13613.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR004182. GRAM.
IPR030587. MTMR1.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
IPR003595. Tyr_Pase_cat.
IPR000387. TYR_PHOSPHATASE_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF40. PTHR10807:SF40. 1 hit.
PfamiPF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 1 hit.
SM00404. PTPc_motif. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q13613-1) [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
MDRPAAAAAA GCEGGGGPNP GPAGGRRPPR AAGGATAGSR QPSVETLDSP
60 70 80 90 100
TGSHVEWCKQ LIAATISSQI SGSVTSENVS RDYKALRDGN KLAQMEEAPL
110 120 130 140 150
FPGESIKAIV KDVMYICPFM GAVSGTLTVT DFKLYFKNVE RDPHFILDVP
160 170 180 190 200
LGVISRVEKI GAQSHGDNSC GIEIVCKDMR NLRLAYKQEE QSKLGIFENL
210 220 230 240 250
NKHAFPLSNG QALFAFSYKE KFPINGWKVY DPVSEYKRQG LPNESWKISK
260 270 280 290 300
INSNYEFCDT YPAIIVVPTS VKDDDLSKVA AFRAKGRVPV LSWIHPESQA
310 320 330 340 350
TITRCSQPLV GPNDKRCKED EKYLQTIMDA NAQSHKLIIF DARQNSVADT
360 370 380 390 400
NKTKGGGYES ESAYPNAELV FLEIHNIHVM RESLRKLKEI VYPSIDEARW
410 420 430 440 450
LSNVDGTHWL EYIRMLLAGA VRIADKIESG KTSVVVHCSD GWDRTAQLTS
460 470 480 490 500
LAMLMLDSYY RTIKGFETLV EKEWISFGHR FALRVGHGND NHADADRSPI
510 520 530 540 550
FLQFVDCVWQ MTRQFPSAFE FNELFLITIL DHLYSCLFGT FLCNCEQQRF
560 570 580 590 600
KEDVYTKTIS LWSYINSQLD EFSNPFFVNY ENHVLYPVAS LSHLELWVNY
610 620 630 640 650
YVRWNPRMRP QMPIHQNLKE LLAVRAELQK RVEGLQREVA TRAVSSSSER
660
GSSPSHSATS VHTSV
Length:665
Mass (Da):74,678
Last modified:July 19, 2003 - v4
Checksum:i12E766859F0DCA75
GO
Isoform 1A (identifier: Q13613-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     553-568: DVYTKTISLWSYINSQ → AWGAGTQRARGSLRSR
     569-665: Missing.

Show »
Length:568
Mass (Da):63,330
Checksum:iEA1F7406012707B6
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti541 – 5411F → L in CAA12271 (Ref. 4) Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei553 – 56816DVYTK…YINSQ → AWGAGTQRARGSLRSR in isoform 1A. CuratedVSP_005169Add
BLAST
Alternative sequencei569 – 66597Missing in isoform 1A. CuratedVSP_005170Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002223 Genomic DNA. No translation available.
CH471169 Genomic DNA. Translation: EAW99384.1.
CH471169 Genomic DNA. Translation: EAW99388.1.
AJ224979 mRNA. Translation: CAA12271.1.
AF057354 mRNA. Translation: AAD40368.1.
U58032 mRNA. Translation: AAC79117.1.
CCDSiCCDS14695.1. [Q13613-1]
RefSeqiNP_001293073.1. NM_001306144.1.
NP_003819.1. NM_003828.3. [Q13613-1]
XP_006724918.1. XM_006724855.3. [Q13613-1]
UniGeneiHs.347187.

Genome annotation databases

EnsembliENST00000370390; ENSP00000359417; ENSG00000063601. [Q13613-1]
ENST00000485376; ENSP00000434105; ENSG00000063601. [Q13613-2]
GeneIDi8776.
KEGGihsa:8776.
UCSCiuc004fei.4. human. [Q13613-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF002223 Genomic DNA. No translation available.
CH471169 Genomic DNA. Translation: EAW99384.1.
CH471169 Genomic DNA. Translation: EAW99388.1.
AJ224979 mRNA. Translation: CAA12271.1.
AF057354 mRNA. Translation: AAD40368.1.
U58032 mRNA. Translation: AAC79117.1.
CCDSiCCDS14695.1. [Q13613-1]
RefSeqiNP_001293073.1. NM_001306144.1.
NP_003819.1. NM_003828.3. [Q13613-1]
XP_006724918.1. XM_006724855.3. [Q13613-1]
UniGeneiHs.347187.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
5C16X-ray2.07A/B/C/D95-665[»]
ProteinModelPortaliQ13613.
SMRiQ13613. Positions 95-606.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114306. 18 interactions.
IntActiQ13613. 1 interaction.
STRINGi9606.ENSP00000359417.

Chemistry

SwissLipidsiSLP:000001136.

PTM databases

DEPODiQ13613.
iPTMnetiQ13613.
PhosphoSiteiQ13613.

Polymorphism and mutation databases

BioMutaiMTMR1.
DMDMi33112667.

Proteomic databases

MaxQBiQ13613.
PaxDbiQ13613.
PeptideAtlasiQ13613.
PRIDEiQ13613.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370390; ENSP00000359417; ENSG00000063601. [Q13613-1]
ENST00000485376; ENSP00000434105; ENSG00000063601. [Q13613-2]
GeneIDi8776.
KEGGihsa:8776.
UCSCiuc004fei.4. human. [Q13613-1]

Organism-specific databases

CTDi8776.
GeneCardsiMTMR1.
H-InvDBHIX0017110.
HGNCiHGNC:7449. MTMR1.
HPAiHPA018502.
MIMi300171. gene.
neXtProtiNX_Q13613.
PharmGKBiPA31252.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOGENOMiHOG000210598.
HOVERGENiHBG000220.
InParanoidiQ13613.
KOiK18081.
PhylomeDBiQ13613.
TreeFamiTF315197.

Enzyme and pathway databases

ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Miscellaneous databases

ChiTaRSiMTMR1. human.
GeneWikiiMTMR1.
GenomeRNAii8776.
PROiQ13613.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000063601.
CleanExiHS_MTMR1.
ExpressionAtlasiQ13613. baseline and differential.
GenevisibleiQ13613. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR004182. GRAM.
IPR030587. MTMR1.
IPR010569. Myotubularin-like_Pase_dom.
IPR030564. Myotubularin_fam.
IPR011993. PH_dom-like.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
IPR003595. Tyr_Pase_cat.
IPR000387. TYR_PHOSPHATASE_dom.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF40. PTHR10807:SF40. 1 hit.
PfamiPF02893. GRAM. 1 hit.
PF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00568. GRAM. 1 hit.
SM00404. PTPc_motif. 1 hit.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
PS50056. TYR_PHOSPHATASE_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR1_HUMAN
AccessioniPrimary (citable) accession number: Q13613
Secondary accession number(s): A0A024RC07
, Q9UBX6, Q9UEM0, Q9UQD5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 19, 2003
Last modified: September 7, 2016
This is version 144 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.