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Protein

Myotubularin-related protein 6

Gene

MTMR6

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

Functioni

Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei336Phosphocysteine intermediatePROSITE-ProRule annotation1
Binding sitei382SubstrateBy similarity1

GO - Molecular functioni

  • calcium-activated potassium channel activity Source: UniProtKB
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity Source: Reactome
  • phosphatidylinositol-3-phosphatase activity Source: Reactome
  • protein serine/threonine phosphatase activity Source: UniProtKB
  • protein tyrosine phosphatase activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139505-MONOMER.
BRENDAi3.1.3.95. 2681.
ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Chemistry databases

SwissLipidsiSLP:000001133.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 6 (EC:3.1.3.-)
Gene namesi
Name:MTMR6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:7453. MTMR6.

Subcellular locationi

  • Nucleus envelope 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000139505.
PharmGKBiPA31256.

Polymorphism and mutation databases

BioMutaiMTMR6.
DMDMi317373414.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000949391 – 621Myotubularin-related protein 6Add BLAST621

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei108PhosphotyrosineBy similarity1
Modified residuei556PhosphoserineCombined sources1
Modified residuei561PhosphoserineCombined sources1
Modified residuei589PhosphoserineCombined sources1
Modified residuei611PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y217.
PaxDbiQ9Y217.
PeptideAtlasiQ9Y217.
PRIDEiQ9Y217.
TopDownProteomicsiQ9Y217-1. [Q9Y217-1]

PTM databases

DEPODiQ9Y217.
iPTMnetiQ9Y217.
PhosphoSitePlusiQ9Y217.

Expressioni

Tissue specificityi

Expressed in CD4+ T-cells.1 Publication

Gene expression databases

BgeeiENSG00000139505.
CleanExiHS_MTMR6.
GenevisibleiQ9Y217. HS.

Organism-specific databases

HPAiHPA034778.

Interactioni

Subunit structurei

Interacts with ALKBH4, KCNN4, MTMR7, MTMR8 and MTMR9.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AMOTL2Q9Y2J4-43EBI-766064,EBI-10187270
MTMR9Q96QG78EBI-766064,EBI-744593
MTUS2Q5JR593EBI-766064,EBI-742948
NMIQ132873EBI-766064,EBI-372942
NMIQ8WTW23EBI-766064,EBI-10174268
TRIM27P143733EBI-766064,EBI-719493

Protein-protein interaction databases

BioGridi114558. 21 interactors.
IntActiQ9Y217. 13 interactors.
MINTiMINT-2822863.
STRINGi9606.ENSP00000371221.

Structurei

Secondary structure

1621
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi5 – 11Combined sources7
Beta strandi26 – 31Combined sources6
Beta strandi33 – 43Combined sources11
Beta strandi45 – 49Combined sources5
Helixi50 – 52Combined sources3
Beta strandi53 – 58Combined sources6
Beta strandi65 – 72Combined sources8
Beta strandi77 – 83Combined sources7
Helixi85 – 98Combined sources14
Helixi108 – 110Combined sources3
Helixi119 – 125Combined sources7
Helixi130 – 136Combined sources7
Beta strandi140 – 147Combined sources8
Helixi148 – 150Combined sources3
Beta strandi157 – 159Combined sources3
Beta strandi161 – 169Combined sources9
Helixi171 – 180Combined sources10
Helixi182 – 184Combined sources3
Beta strandi188 – 192Combined sources5
Turni194 – 196Combined sources3
Beta strandi199 – 202Combined sources4
Helixi215 – 227Combined sources13
Beta strandi234 – 238Combined sources5
Turni258 – 260Combined sources3
Beta strandi264 – 268Combined sources5
Helixi274 – 288Combined sources15
Helixi295 – 304Combined sources10
Helixi307 – 326Combined sources20
Beta strandi332 – 334Combined sources3
Turni336 – 338Combined sources3
Beta strandi339 – 341Combined sources3
Helixi342 – 354Combined sources13
Helixi357 – 359Combined sources3
Helixi361 – 371Combined sources11
Turni372 – 376Combined sources5
Helixi379 – 383Combined sources5
Beta strandi385 – 387Combined sources3
Helixi390 – 392Combined sources3
Helixi396 – 410Combined sources15
Turni412 – 414Combined sources3
Helixi419 – 429Combined sources11
Turni430 – 432Combined sources3
Beta strandi439 – 441Combined sources3
Helixi442 – 447Combined sources6
Helixi450 – 453Combined sources4
Helixi458 – 461Combined sources4
Helixi465 – 468Combined sources4
Beta strandi488 – 491Combined sources4
Helixi496 – 502Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YF0X-ray2.65A1-505[»]
ProteinModelPortaliQ9Y217.
SMRiQ9Y217.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini124 – 499Myotubularin phosphatasePROSITE-ProRule annotationAdd BLAST376

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni248 – 251Substrate bindingBy similarity4
Regioni273 – 274Substrate bindingBy similarity2
Regioni336 – 342Substrate bindingBy similarity7

Sequence similaritiesi

Contains 1 myotubularin phosphatase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOVERGENiHBG000220.
InParanoidiQ9Y217.
KOiK18083.
OMAiIKFWRGM.
OrthoDBiEOG091G02LA.
PhylomeDBiQ9Y217.
TreeFamiTF315197.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.90.190.10. 1 hit.
InterProiIPR030581. MTMR6.
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.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF34. PTHR10807:SF34. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00404. 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.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9Y217-1) [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
MEHIRTTKVE QVKLLDRFST SNKSLTGTLY LTATHLLFID SHQKETWILH
60 70 80 90 100
HHIASVEKLA LTTSGCPLVI QCKNFRTVHF IVPRERDCHD IYNSLLQLSK
110 120 130 140 150
QAKYEDLYAF SYNPKQNDSE RLQGWQLIDL AEEYKRMGVP NSHWQLSDAN
160 170 180 190 200
RDYKICETYP RELYVPRIAS KPIIVGSSKF RSKGRFPVLS YYHQDKEAAI
210 220 230 240 250
CRCSQPLSGF SARCLEDEHL LQAISKANPV NRYMYVMDTR PKLNAMANRA
260 270 280 290 300
AGKGYENEDN YSNIRFQFVG IENIHVMRSS LQKLLEVNGT KGLSVNDFYS
310 320 330 340 350
GLESSGWLRH IKAVMDAAIF LAKAITVENA SVLVHCSDGW DRTSQVCSLG
360 370 380 390 400
SLLLDSYYRT IKGFMVLIEK DWISFGHKFS ERCGQLDGDP KEVSPVFTQF
410 420 430 440 450
LECVWHLTEQ FPQAFEFSEA FLLQIHEHIH SCQFGNFLGN CQKEREELKL
460 470 480 490 500
KEKTYSLWPF LLEDQKKYLN PLYSSESHRF TVLEPNTVSF NFKFWRNMYH
510 520 530 540 550
QFDRTLHPRQ SVFNIIMNMN EQNKQLEKDI KDLESKIKQR KNKQTDGILT
560 570 580 590 600
KELLHSVHPE SPNLKTSLCF KEQTLLPVND ALRTIEGSSP ADNRYSEYAE
610 620
EFSKSEPAVV SLEYGVARMT C
Length:621
Mass (Da):71,968
Last modified:January 11, 2011 - v3
Checksum:i1F34608F99DCEA39
GO
Isoform 2 (identifier: Q9Y217-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     536-548: KIKQRKNKQTDGI → LTSYSSFKIIVGQ
     549-621: Missing.

Note: No experimental confirmation available.
Show »
Length:548
Mass (Da):63,743
Checksum:i161703C7D46CBD88
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti89H → R in CAD89918 (PubMed:17974005).Curated1
Sequence conflicti114P → S in BAG37162 (PubMed:14702039).Curated1
Sequence conflicti125W → R in CAD89918 (PubMed:17974005).Curated1
Sequence conflicti333L → S in AAL01037 (Ref. 2) Curated1
Sequence conflicti333L → S in AAC78841 (PubMed:9736772).Curated1
Sequence conflicti368I → T in BAG37162 (PubMed:14702039).Curated1
Sequence conflicti430H → D in BAG52676 (PubMed:14702039).Curated1
Sequence conflicti442Q → P in AAL01037 (Ref. 2) Curated1
Sequence conflicti442Q → P in AAC78841 (PubMed:9736772).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057143131A → T.Corresponds to variant rs34885345dbSNPEnsembl.1
Natural variantiVAR_024583319I → V.5 PublicationsCorresponds to variant rs7995033dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036614536 – 548KIKQR…QTDGI → LTSYSSFKIIVGQ in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_036615549 – 621Missing in isoform 2. 1 PublicationAdd BLAST73

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF406619 mRNA. Translation: AAL01037.1.
AK093237 mRNA. Translation: BAG52676.1.
AK314587 mRNA. Translation: BAG37162.1.
AL832017 mRNA. Translation: CAD89918.1.
AL590787 Genomic DNA. Translation: CAI39897.1.
BC040012 mRNA. Translation: AAH40012.1.
AF072928 mRNA. Translation: AAC78841.1.
CCDSiCCDS9313.1. [Q9Y217-1]
RefSeqiNP_004676.3. NM_004685.3. [Q9Y217-1]
UniGeneiHs.643702.

Genome annotation databases

EnsembliENST00000381801; ENSP00000371221; ENSG00000139505. [Q9Y217-1]
GeneIDi9107.
KEGGihsa:9107.
UCSCiuc001uqf.6. human. [Q9Y217-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF406619 mRNA. Translation: AAL01037.1.
AK093237 mRNA. Translation: BAG52676.1.
AK314587 mRNA. Translation: BAG37162.1.
AL832017 mRNA. Translation: CAD89918.1.
AL590787 Genomic DNA. Translation: CAI39897.1.
BC040012 mRNA. Translation: AAH40012.1.
AF072928 mRNA. Translation: AAC78841.1.
CCDSiCCDS9313.1. [Q9Y217-1]
RefSeqiNP_004676.3. NM_004685.3. [Q9Y217-1]
UniGeneiHs.643702.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YF0X-ray2.65A1-505[»]
ProteinModelPortaliQ9Y217.
SMRiQ9Y217.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114558. 21 interactors.
IntActiQ9Y217. 13 interactors.
MINTiMINT-2822863.
STRINGi9606.ENSP00000371221.

Chemistry databases

SwissLipidsiSLP:000001133.

PTM databases

DEPODiQ9Y217.
iPTMnetiQ9Y217.
PhosphoSitePlusiQ9Y217.

Polymorphism and mutation databases

BioMutaiMTMR6.
DMDMi317373414.

Proteomic databases

EPDiQ9Y217.
PaxDbiQ9Y217.
PeptideAtlasiQ9Y217.
PRIDEiQ9Y217.
TopDownProteomicsiQ9Y217-1. [Q9Y217-1]

Protocols and materials databases

DNASUi9107.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381801; ENSP00000371221; ENSG00000139505. [Q9Y217-1]
GeneIDi9107.
KEGGihsa:9107.
UCSCiuc001uqf.6. human. [Q9Y217-1]

Organism-specific databases

CTDi9107.
GeneCardsiMTMR6.
H-InvDBHIX0011183.
HIX0171878.
HGNCiHGNC:7453. MTMR6.
HPAiHPA034778.
MIMi603561. gene.
neXtProtiNX_Q9Y217.
OpenTargetsiENSG00000139505.
PharmGKBiPA31256.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1089. Eukaryota.
ENOG410XPTU. LUCA.
GeneTreeiENSGT00760000118832.
HOVERGENiHBG000220.
InParanoidiQ9Y217.
KOiK18083.
OMAiIKFWRGM.
OrthoDBiEOG091G02LA.
PhylomeDBiQ9Y217.
TreeFamiTF315197.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000139505-MONOMER.
BRENDAi3.1.3.95. 2681.
ReactomeiR-HSA-1660499. Synthesis of PIPs at the plasma membrane.

Miscellaneous databases

ChiTaRSiMTMR6. human.
GeneWikiiMTMR6.
GenomeRNAii9107.
PROiQ9Y217.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139505.
CleanExiHS_MTMR6.
GenevisibleiQ9Y217. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.90.190.10. 1 hit.
InterProiIPR030581. MTMR6.
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.
[Graphical view]
PANTHERiPTHR10807. PTHR10807. 1 hit.
PTHR10807:SF34. PTHR10807:SF34. 1 hit.
PfamiPF06602. Myotub-related. 1 hit.
[Graphical view]
SMARTiSM00404. 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.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMTMR6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y217
Secondary accession number(s): B2RBB5
, B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 157 of the entry and version 3 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 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.