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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)DescriptionActionsGraphical viewLength
Active sitei438Phosphocysteine intermediatePROSITE-ProRule annotation1 Publication1
Binding sitei484SubstrateBy similarity1

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

BioCyciZFISH:ENSG00000063601-MONOMER.
ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Chemistry databases

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)DescriptionActionsGraphical viewLength
Mutagenesisi438C → S: Abolishes enzyme activity. 1 Publication1
Mutagenesisi443D → A: Abolishes enzyme activity. 1 Publication1
Mutagenesisi444R → A: Abolishes enzyme activity with phosphatidylinositol 3-phosphate. Reduces activity with phosphatidylinositol (3,5)-bisphosphate. 1 Publication1
Mutagenesisi484R → A: Abolishes enzyme activity. 1 Publication1

Organism-specific databases

DisGeNETi8776.
OpenTargetsiENSG00000063601.
PharmGKBiPA31252.

Polymorphism and mutation databases

BioMutaiMTMR1.
DMDMi33112667.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949321 – 665Myotubularin-related protein 1Add BLAST665

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei43PhosphoserineCombined sources1
Modified residuei49PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ13613.
PaxDbiQ13613.
PeptideAtlasiQ13613.
PRIDEiQ13613.

PTM databases

DEPODiQ13613.
iPTMnetiQ13613.
PhosphoSitePlusiQ13613.

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 interactors.
IntActiQ13613. 1 interactor.
STRINGi9606.ENSP00000359417.

Structurei

Secondary structure

1665
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi106 – 116Combined sources11
Beta strandi118 – 120Combined sources3
Beta strandi122 – 138Combined sources17
Beta strandi145 – 150Combined sources6
Helixi151 – 153Combined sources3
Beta strandi154 – 159Combined sources6
Beta strandi172 – 179Combined sources8
Beta strandi181 – 185Combined sources5
Helixi196 – 204Combined sources9
Helixi206 – 208Combined sources3
Helixi214 – 217Combined sources4
Helixi226 – 228Combined sources3
Helixi232 – 238Combined sources7
Beta strandi244 – 249Combined sources6
Turni251 – 254Combined sources4
Beta strandi255 – 257Combined sources3
Beta strandi265 – 268Combined sources4
Helixi273 – 281Combined sources9
Helixi284 – 286Combined sources3
Beta strandi290 – 294Combined sources5
Turni296 – 298Combined sources3
Beta strandi301 – 305Combined sources5
Turni311 – 314Combined sources4
Helixi318 – 329Combined sources12
Beta strandi337 – 343Combined sources7
Helixi345 – 353Combined sources9
Turni361 – 363Combined sources3
Beta strandi367 – 374Combined sources8
Helixi377 – 391Combined sources15
Helixi397 – 399Combined sources3
Helixi400 – 407Combined sources8
Helixi409 – 428Combined sources20
Beta strandi434 – 437Combined sources4
Beta strandi439 – 443Combined sources5
Helixi444 – 456Combined sources13
Helixi458 – 461Combined sources4
Helixi463 – 473Combined sources11
Turni474 – 478Combined sources5
Helixi481 – 485Combined sources5
Turni486 – 488Combined sources3
Helixi500 – 514Combined sources15
Turni516 – 518Combined sources3
Helixi523 – 535Combined sources13
Beta strandi543 – 545Combined sources3
Helixi546 – 551Combined sources6
Helixi554 – 557Combined sources4
Helixi561 – 567Combined sources7
Helixi568 – 572Combined sources5
Helixi591 – 593Combined sources3
Helixi598 – 601Combined sources4
Turni602 – 604Combined sources3

3D structure databases

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

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini90 – 161GRAMAdd BLAST72
Domaini226 – 601Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni351 – 354Substrate binding1 Publication4
Regioni376 – 377Substrate binding1 Publication2
Regioni438 – 444Substrate binding1 Publication7
Regioni608 – 665Required for dimerization1 PublicationAdd BLAST58

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 10Poly-Ala6
Compositional biasi14 – 17Poly-Gly4
Compositional biasi645 – 648Poly-Ser4

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.
3.90.190.10. 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)DescriptionActionsGraphical viewLength
Sequence conflicti541F → L in CAA12271 (Ref. 4) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005169553 – 568DVYTK…YINSQ → AWGAGTQRARGSLRSR in isoform 1A. CuratedAdd BLAST16
Alternative sequenceiVSP_005170569 – 665Missing in isoform 1A. CuratedAdd BLAST97

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
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5C16X-ray2.07A/B/C/D95-665[»]
ProteinModelPortaliQ13613.
SMRiQ13613.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114306. 18 interactors.
IntActiQ13613. 1 interactor.
STRINGi9606.ENSP00000359417.

Chemistry databases

SwissLipidsiSLP:000001136.

PTM databases

DEPODiQ13613.
iPTMnetiQ13613.
PhosphoSitePlusiQ13613.

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.
DisGeNETi8776.
GeneCardsiMTMR1.
H-InvDBHIX0017110.
HGNCiHGNC:7449. MTMR1.
HPAiHPA018502.
MIMi300171. gene.
neXtProtiNX_Q13613.
OpenTargetsiENSG00000063601.
PharmGKBiPA31252.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000063601-MONOMER.
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.
3.90.190.10. 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: November 30, 2016
This is version 147 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.