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Q9Y217 (MTMR6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myotubularin-related protein 6

EC=3.1.3.-
Gene names
Name:MTMR6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length621 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8 Ref.10

Subunit structure

Interacts with ALKBH4, KCNN4, MTMR7, MTMR8 and MTMR9. Ref.1 Ref.8 Ref.9 Ref.12

Subcellular location

Nucleus envelope Ref.9.

Tissue specificity

Expressed in CD4+ T-cells. Ref.10

Sequence similarities

Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Contains 1 myotubularin phosphatase domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y217-1)

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.
Isoform 2 (identifier: Q9Y217-2)

The sequence of this isoform differs from the canonical sequence as follows:
     536-548: KIKQRKNKQTDGI → LTSYSSFKIIVGQ
     549-621: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 621621Myotubularin-related protein 6
PRO_0000094939

Regions

Domain124 – 499376Myotubularin phosphatase
Region248 – 2514Substrate binding By similarity
Region273 – 2742Substrate binding By similarity
Region336 – 3427Substrate binding By similarity

Sites

Active site3361Phosphocysteine intermediate By similarity
Binding site3821Substrate By similarity

Amino acid modifications

Modified residue1081Phosphotyrosine By similarity
Modified residue5611Phosphoserine Ref.11
Modified residue5891Phosphoserine Ref.11

Natural variations

Alternative sequence536 – 54813KIKQR…QTDGI → LTSYSSFKIIVGQ in isoform 2.
VSP_036614
Alternative sequence549 – 62173Missing in isoform 2.
VSP_036615
Natural variant1311A → T.
Corresponds to variant rs34885345 [ dbSNP | Ensembl ].
VAR_057143
Natural variant3191I → V. Ref.2 Ref.3 Ref.4 Ref.6 Ref.7
Corresponds to variant rs7995033 [ dbSNP | Ensembl ].
VAR_024583

Experimental info

Sequence conflict891H → R in CAD89918. Ref.4
Sequence conflict1141P → S in BAG37162. Ref.3
Sequence conflict1251W → R in CAD89918. Ref.4
Sequence conflict3331L → S in AAL01037. Ref.2
Sequence conflict3331L → S in AAC78841. Ref.7
Sequence conflict3681I → T in BAG37162. Ref.3
Sequence conflict4301H → D in BAG52676. Ref.3
Sequence conflict4421Q → P in AAL01037. Ref.2
Sequence conflict4421Q → P in AAC78841. Ref.7

Secondary structure

........................................................................................... 621
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: 1F34608F99DCEA39

FASTA62171,968
        10         20         30         40         50         60 
MEHIRTTKVE QVKLLDRFST SNKSLTGTLY LTATHLLFID SHQKETWILH HHIASVEKLA 

        70         80         90        100        110        120 
LTTSGCPLVI QCKNFRTVHF IVPRERDCHD IYNSLLQLSK QAKYEDLYAF SYNPKQNDSE 

       130        140        150        160        170        180 
RLQGWQLIDL AEEYKRMGVP NSHWQLSDAN RDYKICETYP RELYVPRIAS KPIIVGSSKF 

       190        200        210        220        230        240 
RSKGRFPVLS YYHQDKEAAI CRCSQPLSGF SARCLEDEHL LQAISKANPV NRYMYVMDTR 

       250        260        270        280        290        300 
PKLNAMANRA AGKGYENEDN YSNIRFQFVG IENIHVMRSS LQKLLEVNGT KGLSVNDFYS 

       310        320        330        340        350        360 
GLESSGWLRH IKAVMDAAIF LAKAITVENA SVLVHCSDGW DRTSQVCSLG SLLLDSYYRT 

       370        380        390        400        410        420 
IKGFMVLIEK DWISFGHKFS ERCGQLDGDP KEVSPVFTQF LECVWHLTEQ FPQAFEFSEA 

       430        440        450        460        470        480 
FLLQIHEHIH SCQFGNFLGN CQKEREELKL KEKTYSLWPF LLEDQKKYLN PLYSSESHRF 

       490        500        510        520        530        540 
TVLEPNTVSF NFKFWRNMYH QFDRTLHPRQ SVFNIIMNMN EQNKQLEKDI KDLESKIKQR 

       550        560        570        580        590        600 
KNKQTDGILT KELLHSVHPE SPNLKTSLCF KEQTLLPVND ALRTIEGSSP ADNRYSEYAE 

       610        620 
EFSKSEPAVV SLEYGVARMT C 

« Hide

Isoform 2 [UniParc].

Checksum: 161703C7D46CBD88
Show »

FASTA54863,743

References

« Hide 'large scale' references
[1]"Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9."
Mochizuki Y., Majerus P.W.
Proc. Natl. Acad. Sci. U.S.A. 100:9768-9773(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH MTMR9.
[2]Hong W.
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT VAL-319.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT VAL-319.
Tissue: Testis and Trachea.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-319.
Tissue: Skeletal muscle.
[5]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT VAL-319.
Tissue: Eye.
[7]"Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human."
Laporte J., Blondeau F., Buj-Bello A., Tentler D., Kretz C., Dahl N., Mandel J.-L.
Hum. Mol. Genet. 7:1703-1712(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 157-621 (ISOFORM 1), VARIANT VAL-319.
[8]"The phosphatidylinositol 3-phosphate phosphatase myotubularin-related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1."
Srivastava S., Li Z., Lin L., Liu G., Ko K., Coetzee W.A., Skolnik E.Y.
Mol. Cell. Biol. 25:3630-3638(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH KCNN4.
[9]"Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions."
Lorenzo O., Urbe S., Clague M.J.
J. Cell Sci. 119:2953-2959(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MTMR7; MTMR8 AND MTMR9.
[10]"Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells."
Srivastava S., Ko K., Choudhury P., Li Z., Johnson A.K., Nadkarni V., Unutmaz D., Coetzee W.A., Skolnik E.Y.
Mol. Cell. Biol. 26:5595-5602(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[11]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-561 AND SER-589, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Human ALKBH4 interacts with proteins associated with transcription."
Bjornstad L.G., Meza T.J., Otterlei M., Olafsrud S.M., Meza-Zepeda L.A., Falnes P.O.
PLoS ONE 7:E49045-E49045(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH ALKBH4.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004676.3. NM_004685.3.
UniGeneHs.643702.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YF0X-ray2.65A1-505[»]
ProteinModelPortalQ9Y217.
SMRQ9Y217. Positions 4-505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114558. 5 interactions.
IntActQ9Y217. 3 interactions.
MINTMINT-2822863.
STRING9606.ENSP00000371221.

PTM databases

PhosphoSiteQ9Y217.

Polymorphism databases

DMDM317373414.

Proteomic databases

PaxDbQ9Y217.
PRIDEQ9Y217.

Protocols and materials databases

DNASU9107.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000381801; ENSP00000371221; ENSG00000139505. [Q9Y217-1]
ENST00000540661; ENSP00000443161; ENSG00000139505. [Q9Y217-2]
GeneID9107.
KEGGhsa:9107.
UCSCuc001uqe.1. human. [Q9Y217-2]
uc001uqf.4. human. [Q9Y217-1]

Organism-specific databases

CTD9107.
GeneCardsGC13M025820.
H-InvDBHIX0011183.
HIX0171878.
HGNCHGNC:7453. MTMR6.
HPAHPA034778.
MIM603561. gene.
neXtProtNX_Q9Y217.
PharmGKBPA31256.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG322789.
HOVERGENHBG000220.
InParanoidQ9Y217.
KOK01112.
OMAVFNIIMN.
OrthoDBEOG71RXJC.
PhylomeDBQ9Y217.
TreeFamTF315197.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressQ9Y217.
BgeeQ9Y217.
CleanExHS_MTMR6.
GenevestigatorQ9Y217.

Family and domain databases

Gene3D2.30.29.30. 1 hit.
InterProIPR010569. Myotubularin-like_Pase_dom.
IPR011993. PH_like_dom.
IPR016130. Tyr_Pase_AS.
[Graphical view]
PfamPF06602. Myotub-related. 1 hit.
[Graphical view]
PROSITEPS51339. PPASE_MYOTUBULARIN. 1 hit.
PS00383. TYR_PHOSPHATASE_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMTMR6.
GenomeRNAi9107.
NextBio34137.
PROQ9Y217.
SOURCESearch...

Entry information

Entry nameMTMR6_HUMAN
AccessionPrimary (citable) accession number: Q9Y217
Secondary accession number(s): B2RBB5 expand/collapse secondary AC list , B3KSB4, Q5JRG6, Q86TB7, Q86YH4, Q96P80
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM