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Protein

Myotubularin-related protein 6

Gene

MTMR6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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-3,5-bisphosphate phosphatase activity Source: UniProtKB
  • phosphatidylinositol-3-phosphatase activity Source: UniProtKB
  • protein serine/threonine phosphatase activity Source: UniProtKB
  • protein tyrosine phosphatase activity Source: UniProtKB

GO - Biological processi

  • phosphatidylinositol biosynthetic process Source: Reactome
  • phosphatidylinositol dephosphorylation Source: UniProtKB
  • protein dephosphorylation Source: UniProtKB

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000139505.11
HGNCiHGNC:7453 MTMR6
MIMi603561 gene
neXtProtiNX_Q9Y217

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

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

Interactioni

Subunit structurei

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi114558, 40 interactors
IntActiQ9Y217, 14 interactors
MINTiQ9Y217
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

Phylogenomic databases

eggNOGiKOG1089 Eukaryota
ENOG410XPTU LUCA
GeneTreeiENSGT00760000118832
HOVERGENiHBG000220
InParanoidiQ9Y217
KOiK18083
OMAiIMNMNEQ
OrthoDBiEOG091G02LA
PhylomeDBiQ9Y217
TreeFamiTF315197

Family and domain databases

CDDicd13343 PH-GRAM_MTMR6, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030581 MTMR6
IPR035998 MTMR6_PH-GRAM
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:SF34 PTHR10807:SF34, 1 hit
PfamiView protein in Pfam
PF06602 Myotub-related, 1 hit
SMARTiView protein in SMART
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: 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 dbSNP:rs34885345Ensembl.1
Natural variantiVAR_024583319I → V5 PublicationsCorresponds to variant dbSNP:rs7995033Ensembl.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiMTMR6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y217
Secondary accession number(s): B2RBB5
, B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 11, 2011
Last modified: May 23, 2018
This is version 170 of the entry and version 3 of the sequence. See 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

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